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PMC11688002 | Guillain–Barré syndrome (GBS) is an autoimmune disease, and the risk of GBS over a person’s lifetime is estimated at 1 in 1000. It affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy. It is an acute, postinfectious immune-mediated polyradiculoneuropathy typically arising a few days to 6 weeks after bacterial or viral infections including Campylobacter jejuni , Haemophilus influenzae , Mycoplasma pneumoniae , influenza, Epstein–Barr virus, cytomegalovirus, and more recently, Zika virus. It is, however, often associated with positive anti-ganglioside antibodies. It can also be triggered by pregnancy, surgery, or even vaccination. The mechanism by which surgery leads to GBS is currently not fully understood and may be the result of a systemic inflammatory response induced by surgical stress. Posterior fossa craniotomy as an inciting event is very uncommon with few reported cases. We reported a case of anti-sulfatide antibody-positive GBS following off-craniotomy for cerebellar contusion. A 79-year-old woman was admitted to the neurological intensive care unit for observation due to a careless fall. After the injury, the patient immediately developed coma, accompanied by nausea and vomiting. However, the patient was somnolent and Glasgow Coma Scale score was 14 on admission (eye-opening: 3 scores; verbal response: 5 scores; motor response: 6 scores). She denied a history of any infections, hypertension, diabetes, or heart disease. Emergency On non-contrast head computed tomography (CT), she was found to have contusion and laceration of left frontal lobe, left temporal lobe, and right cerebellar hemisphere with attendant traumatic subarachnoid hemorrhage, subdural hematomas, and occipital fracture . Electrocardiography revealed no abnormalities. The analysis of the cerebrospinal fluid (CSF) showed a total protein of 1.3 g/L and nuclear cell count of 3/µL. This indicated the albuminocytological dissociation. Anti-ganglioside antibodies (only anti-sulfatide antibodies) were detected to be positive in the patient’s serum but not in his CSF. Supportive treatments for the patient after admission were performed, such as electrocardio and blood pressure monitor, proton pump inhibitors to inhibit gastric acid secretion, neurotrophic drugs, and regular craniocerebral CT scans, but without gangliosides or their derivatives. Six hours after admission, the patient’s condition became worse, and her consciousness state was drowsy. An emergency head CT showed no new intracranial rebleeding. However the cerebellar hemisphere contusion and laceration were aggravated, accompanied by a local area of low-density edema was observed around the hematoma. At the same time, the patient’s brain stem was compressed and the cisterns were not clearly displayed. Therefore, cerebellar contusion and hematoma evacuation, along with decompressive craniectomy, were performed. On the first postoperative day, the patient underwent a follow-up cranial CT scan. The results of Figure 3 demonstrated post-evacuation alterations of a contusion hemorrhage in the right cerebellar hemisphere, with the creation of a local bone window. The interpeduncular and perimesencephalic cisterns were patent, and the previously observed brainstem compression was relieved. The patient’s symptoms continued to improve after surgery, and there was no motor and sensory disturbance. Seven days after surgery, the patient’s condition suddenly worsened, showing weakness in the right limb, especially in the upper limb. Ten hours later, the disease progressed to quadriplegia, autonomic dysfunction, dilated pupils, and respiratory failure. She was treated with endotracheal intubation and mechanical ventilation, but conscious. The examination of head CT and magnetic resonance imaging showed no intracranial delayed hemorrhage and cerebral infarction, and Guillebalan syndrome was considered in Figures 4 and 5 . The possibility of GBS was suggested and the lumbar puncture was subsequently performed. Intravenous immunoglobulin (IVIG) 2 g/kg was given daily. Five days later, the symptoms improved significantly, including spontaneous breathing strength, limb muscle strength recovered to grade 2, pain and temperature sensation recovered, and physical rehabilitation was continued. Six weeks later, the patient was discharged with grade 4 muscle strength recovery. This further confirmed the diagnosis of GBS. In fact, the development of GBS after traumatic brain injury was first reported in 1987. Since then, there have been a few reports of GBS after traumatic brain injury in the past 3 decades. However, to date, this is the first report of GBS after posterior fossa decompression of severe traumatic brain injury accompanied by positive anti-sulfatide antibodies only in serum, and an interesting observation in our case is the asymmetric presentation of his symptoms. Clinically, GBS is usually defined by bilateral symmetrical paresis and hyporeflexia of the limbs, and starts in the distal lower extremities, but can start more proximally in the legs or arms. Logullo et al have been demonstrated in GCS and has been attributed to varying extents of immune-mediated pathology on either side of the sagittal plane. In addition, patients may present with cranial nerve involvement resulting in facial, oculomotor, or bulbar weakness, as in Miller Fisher syndrome, which might then extend to involve the. Although GBS is self-limited and immunotherapy has a certain effect, 5% of patients may die, and 20% of patients may be left with severe dysfunction. Studies have found that anti-glucolipid antibodies (including anti-ganglioside antibodies and anti-sulfatide antibodies) on the surface of peripheral nerve membranes are closely related to the pathogenesis of GBS. Sulfatide, also known as sulfatide, is an acidic glycolipid on myelin membrane that contains sulfuric acid residues and is different from ganglioside. It is very abundant in the nervous system, mainly located in the myelin sheath, and it plays an important role in maintaining the structure and physiological function of the nerve sheath. Under pathological conditions, sulfatide can promote the transverse growth of myelin sheath, affect its sorting and assembly, and affect the normal function of myelin proteins. Some scholars have made an animal model of peripheral neuropathy by sensitizing guinea pigs with sulfatide, and confirmed that sulfatide is involved in the occurrence and development of peripheral neuropathy. Moreover, some scholars believe that screening anti-sulfatide antibodies can be used as one of the basis for the diagnosis of peripheral neuropathy. At present, the pathogenic mechanism of anti-sulfatide antibodies in inflammatory peripheral neuropathy is not very clear. Some studies have found that patients with high titers of anti-sulfatide antibodies have widened myelin membrane gap under ultrastructure, and IgM-anti-sulfatide antibodies and complement factors are deposited on the myelin sheath of such patients by indirect immunofluorescence analysis, which may be the cause of peripheral nerve injury. Diagnosis of GBS is made based on symptoms and physical examination findings. The role of CSF testing and electrophysiological examination in the diagnosis of GBS is very important. Except for the case reported by Duncan and colleagues in 1987 without a lumbar puncture examination, all cases showed albuminocytological dissociation in CSF. The examination results of our case were consistent with the report. However, due to the rapid progression of the disease, the patient could not be weaned from the ventilator in the early stage, so the opportunity of neuroelectrophysiological examination was missed. Moreover, anti-sulfatide antibodies are closely associated with GBS. Some scholars have proposed that immunoglobulin trial treatment is also a way to diagnose GBS. GBS is an immune-mediated acute inflammatory peripheral neuropathy, so the main treatment at present is still immunotherapy. Intravenous IVIG and plasma exchange are the preferred treatment for GBS. IVIG regimen was 400 mg/(kg·d) by intravenous drip for 3 to 5 days. The plasma exchange protocol was 30 to 50 mL/kg, 3 to 5 times in 1 to 2 weeks. Although early studies have shown that plasma exchange is more likely to prevent the progression of GBS than IVIG, the incidence of adverse reactions is similar between plasma exchange and IVIG. However, IVIG is easier to administer clinically, so it is more widely used and usually preferred. Although some scholars have previously suggested that glucocorticoids can slow down the progression of the disease by reducing inflammation, 8 randomized controlled trials showed that corticosteroids had no significant effect on the treatment of GBS, and oral corticosteroids even brought varying degrees of adverse reactions. In addition, plasma exchange followed by IVIG was not superior to either monotherapy, and there was no significant difference in efficacy between IVIG combined with intravenous methylprednisolone and IVIG alone. GBS with positive anti-sulfatide antibody after craniotomy in adults is a very rare condition. It is difficult to diagnose because of its atypical clinical manifestations. However, clinicians should identify post-traumatic GBS when sudden limb weakness occurs in patients without limb dysfunction after severe traumatic brain injury. The detection of ganglioside antibody spectrum in CSF and plasma, neuroelectrophysiological examination, nerve biopsy, and routine detection of CSF are of guiding significance for the differential diagnosis of GBS. Timely and effective treatment in the acute stage of GBS is the key to reduce the mortality and disability rate, but the complete remission of symptoms may take a long time. The authors are grateful to the patient and his family for their support and cooperation. Conceptualization: Xiaobin Min, Haoye Feng, Hongjun Su. Data curation: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Formal analysis: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Visualization: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—original draft: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—review & editing: Xiaobin Min, Haoye Feng, Hongjun Su. Funding acquisition: Hongjun Su. | Clinical case | biomedical | en | 0.999997 |
PMC11688002 | Guillain–Barré syndrome (GBS) is an autoimmune disease, and the risk of GBS over a person’s lifetime is estimated at 1 in 1000. It affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy. It is an acute, postinfectious immune-mediated polyradiculoneuropathy typically arising a few days to 6 weeks after bacterial or viral infections including Campylobacter jejuni , Haemophilus influenzae , Mycoplasma pneumoniae , influenza, Epstein–Barr virus, cytomegalovirus, and more recently, Zika virus. It is, however, often associated with positive anti-ganglioside antibodies. It can also be triggered by pregnancy, surgery, or even vaccination. The mechanism by which surgery leads to GBS is currently not fully understood and may be the result of a systemic inflammatory response induced by surgical stress. Posterior fossa craniotomy as an inciting event is very uncommon with few reported cases. We reported a case of anti-sulfatide antibody-positive GBS following off-craniotomy for cerebellar contusion. A 79-year-old woman was admitted to the neurological intensive care unit for observation due to a careless fall. After the injury, the patient immediately developed coma, accompanied by nausea and vomiting. However, the patient was somnolent and Glasgow Coma Scale score was 14 on admission (eye-opening: 3 scores; verbal response: 5 scores; motor response: 6 scores). She denied a history of any infections, hypertension, diabetes, or heart disease. Emergency On non-contrast head computed tomography (CT), she was found to have contusion and laceration of left frontal lobe, left temporal lobe, and right cerebellar hemisphere with attendant traumatic subarachnoid hemorrhage, subdural hematomas, and occipital fracture . Electrocardiography revealed no abnormalities. The analysis of the cerebrospinal fluid (CSF) showed a total protein of 1.3 g/L and nuclear cell count of 3/µL. This indicated the albuminocytological dissociation. Anti-ganglioside antibodies (only anti-sulfatide antibodies) were detected to be positive in the patient’s serum but not in his CSF. Supportive treatments for the patient after admission were performed, such as electrocardio and blood pressure monitor, proton pump inhibitors to inhibit gastric acid secretion, neurotrophic drugs, and regular craniocerebral CT scans, but without gangliosides or their derivatives. Six hours after admission, the patient’s condition became worse, and her consciousness state was drowsy. An emergency head CT showed no new intracranial rebleeding. However the cerebellar hemisphere contusion and laceration were aggravated, accompanied by a local area of low-density edema was observed around the hematoma. At the same time, the patient’s brain stem was compressed and the cisterns were not clearly displayed. Therefore, cerebellar contusion and hematoma evacuation, along with decompressive craniectomy, were performed. On the first postoperative day, the patient underwent a follow-up cranial CT scan. The results of Figure 3 demonstrated post-evacuation alterations of a contusion hemorrhage in the right cerebellar hemisphere, with the creation of a local bone window. The interpeduncular and perimesencephalic cisterns were patent, and the previously observed brainstem compression was relieved. The patient’s symptoms continued to improve after surgery, and there was no motor and sensory disturbance. Seven days after surgery, the patient’s condition suddenly worsened, showing weakness in the right limb, especially in the upper limb. Ten hours later, the disease progressed to quadriplegia, autonomic dysfunction, dilated pupils, and respiratory failure. She was treated with endotracheal intubation and mechanical ventilation, but conscious. The examination of head CT and magnetic resonance imaging showed no intracranial delayed hemorrhage and cerebral infarction, and Guillebalan syndrome was considered in Figures 4 and 5 . The possibility of GBS was suggested and the lumbar puncture was subsequently performed. Intravenous immunoglobulin (IVIG) 2 g/kg was given daily. Five days later, the symptoms improved significantly, including spontaneous breathing strength, limb muscle strength recovered to grade 2, pain and temperature sensation recovered, and physical rehabilitation was continued. Six weeks later, the patient was discharged with grade 4 muscle strength recovery. This further confirmed the diagnosis of GBS. In fact, the development of GBS after traumatic brain injury was first reported in 1987. Since then, there have been a few reports of GBS after traumatic brain injury in the past 3 decades. However, to date, this is the first report of GBS after posterior fossa decompression of severe traumatic brain injury accompanied by positive anti-sulfatide antibodies only in serum, and an interesting observation in our case is the asymmetric presentation of his symptoms. Clinically, GBS is usually defined by bilateral symmetrical paresis and hyporeflexia of the limbs, and starts in the distal lower extremities, but can start more proximally in the legs or arms. Logullo et al have been demonstrated in GCS and has been attributed to varying extents of immune-mediated pathology on either side of the sagittal plane. In addition, patients may present with cranial nerve involvement resulting in facial, oculomotor, or bulbar weakness, as in Miller Fisher syndrome, which might then extend to involve the. Although GBS is self-limited and immunotherapy has a certain effect, 5% of patients may die, and 20% of patients may be left with severe dysfunction. Studies have found that anti-glucolipid antibodies (including anti-ganglioside antibodies and anti-sulfatide antibodies) on the surface of peripheral nerve membranes are closely related to the pathogenesis of GBS. Sulfatide, also known as sulfatide, is an acidic glycolipid on myelin membrane that contains sulfuric acid residues and is different from ganglioside. It is very abundant in the nervous system, mainly located in the myelin sheath, and it plays an important role in maintaining the structure and physiological function of the nerve sheath. Under pathological conditions, sulfatide can promote the transverse growth of myelin sheath, affect its sorting and assembly, and affect the normal function of myelin proteins. Some scholars have made an animal model of peripheral neuropathy by sensitizing guinea pigs with sulfatide, and confirmed that sulfatide is involved in the occurrence and development of peripheral neuropathy. Moreover, some scholars believe that screening anti-sulfatide antibodies can be used as one of the basis for the diagnosis of peripheral neuropathy. At present, the pathogenic mechanism of anti-sulfatide antibodies in inflammatory peripheral neuropathy is not very clear. Some studies have found that patients with high titers of anti-sulfatide antibodies have widened myelin membrane gap under ultrastructure, and IgM-anti-sulfatide antibodies and complement factors are deposited on the myelin sheath of such patients by indirect immunofluorescence analysis, which may be the cause of peripheral nerve injury. Diagnosis of GBS is made based on symptoms and physical examination findings. The role of CSF testing and electrophysiological examination in the diagnosis of GBS is very important. Except for the case reported by Duncan and colleagues in 1987 without a lumbar puncture examination, all cases showed albuminocytological dissociation in CSF. The examination results of our case were consistent with the report. However, due to the rapid progression of the disease, the patient could not be weaned from the ventilator in the early stage, so the opportunity of neuroelectrophysiological examination was missed. Moreover, anti-sulfatide antibodies are closely associated with GBS. Some scholars have proposed that immunoglobulin trial treatment is also a way to diagnose GBS. GBS is an immune-mediated acute inflammatory peripheral neuropathy, so the main treatment at present is still immunotherapy. Intravenous IVIG and plasma exchange are the preferred treatment for GBS. IVIG regimen was 400 mg/(kg·d) by intravenous drip for 3 to 5 days. The plasma exchange protocol was 30 to 50 mL/kg, 3 to 5 times in 1 to 2 weeks. Although early studies have shown that plasma exchange is more likely to prevent the progression of GBS than IVIG, the incidence of adverse reactions is similar between plasma exchange and IVIG. However, IVIG is easier to administer clinically, so it is more widely used and usually preferred. Although some scholars have previously suggested that glucocorticoids can slow down the progression of the disease by reducing inflammation, 8 randomized controlled trials showed that corticosteroids had no significant effect on the treatment of GBS, and oral corticosteroids even brought varying degrees of adverse reactions. In addition, plasma exchange followed by IVIG was not superior to either monotherapy, and there was no significant difference in efficacy between IVIG combined with intravenous methylprednisolone and IVIG alone. GBS with positive anti-sulfatide antibody after craniotomy in adults is a very rare condition. It is difficult to diagnose because of its atypical clinical manifestations. However, clinicians should identify post-traumatic GBS when sudden limb weakness occurs in patients without limb dysfunction after severe traumatic brain injury. The detection of ganglioside antibody spectrum in CSF and plasma, neuroelectrophysiological examination, nerve biopsy, and routine detection of CSF are of guiding significance for the differential diagnosis of GBS. Timely and effective treatment in the acute stage of GBS is the key to reduce the mortality and disability rate, but the complete remission of symptoms may take a long time. The authors are grateful to the patient and his family for their support and cooperation. Conceptualization: Xiaobin Min, Haoye Feng, Hongjun Su. Data curation: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Formal analysis: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Visualization: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—original draft: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—review & editing: Xiaobin Min, Haoye Feng, Hongjun Su. Funding acquisition: Hongjun Su. | Clinical case | biomedical | en | 0.999997 |
PMC11688002 | Guillain–Barré syndrome (GBS) is an autoimmune disease, and the risk of GBS over a person’s lifetime is estimated at 1 in 1000. It affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy. It is an acute, postinfectious immune-mediated polyradiculoneuropathy typically arising a few days to 6 weeks after bacterial or viral infections including Campylobacter jejuni , Haemophilus influenzae , Mycoplasma pneumoniae , influenza, Epstein–Barr virus, cytomegalovirus, and more recently, Zika virus. It is, however, often associated with positive anti-ganglioside antibodies. It can also be triggered by pregnancy, surgery, or even vaccination. The mechanism by which surgery leads to GBS is currently not fully understood and may be the result of a systemic inflammatory response induced by surgical stress. Posterior fossa craniotomy as an inciting event is very uncommon with few reported cases. We reported a case of anti-sulfatide antibody-positive GBS following off-craniotomy for cerebellar contusion. A 79-year-old woman was admitted to the neurological intensive care unit for observation due to a careless fall. After the injury, the patient immediately developed coma, accompanied by nausea and vomiting. However, the patient was somnolent and Glasgow Coma Scale score was 14 on admission (eye-opening: 3 scores; verbal response: 5 scores; motor response: 6 scores). She denied a history of any infections, hypertension, diabetes, or heart disease. Emergency On non-contrast head computed tomography (CT), she was found to have contusion and laceration of left frontal lobe, left temporal lobe, and right cerebellar hemisphere with attendant traumatic subarachnoid hemorrhage, subdural hematomas, and occipital fracture . Electrocardiography revealed no abnormalities. The analysis of the cerebrospinal fluid (CSF) showed a total protein of 1.3 g/L and nuclear cell count of 3/µL. This indicated the albuminocytological dissociation. Anti-ganglioside antibodies (only anti-sulfatide antibodies) were detected to be positive in the patient’s serum but not in his CSF. Supportive treatments for the patient after admission were performed, such as electrocardio and blood pressure monitor, proton pump inhibitors to inhibit gastric acid secretion, neurotrophic drugs, and regular craniocerebral CT scans, but without gangliosides or their derivatives. Six hours after admission, the patient’s condition became worse, and her consciousness state was drowsy. An emergency head CT showed no new intracranial rebleeding. However the cerebellar hemisphere contusion and laceration were aggravated, accompanied by a local area of low-density edema was observed around the hematoma. At the same time, the patient’s brain stem was compressed and the cisterns were not clearly displayed. Therefore, cerebellar contusion and hematoma evacuation, along with decompressive craniectomy, were performed. On the first postoperative day, the patient underwent a follow-up cranial CT scan. The results of Figure 3 demonstrated post-evacuation alterations of a contusion hemorrhage in the right cerebellar hemisphere, with the creation of a local bone window. The interpeduncular and perimesencephalic cisterns were patent, and the previously observed brainstem compression was relieved. The patient’s symptoms continued to improve after surgery, and there was no motor and sensory disturbance. Seven days after surgery, the patient’s condition suddenly worsened, showing weakness in the right limb, especially in the upper limb. Ten hours later, the disease progressed to quadriplegia, autonomic dysfunction, dilated pupils, and respiratory failure. She was treated with endotracheal intubation and mechanical ventilation, but conscious. The examination of head CT and magnetic resonance imaging showed no intracranial delayed hemorrhage and cerebral infarction, and Guillebalan syndrome was considered in Figures 4 and 5 . The possibility of GBS was suggested and the lumbar puncture was subsequently performed. Intravenous immunoglobulin (IVIG) 2 g/kg was given daily. Five days later, the symptoms improved significantly, including spontaneous breathing strength, limb muscle strength recovered to grade 2, pain and temperature sensation recovered, and physical rehabilitation was continued. Six weeks later, the patient was discharged with grade 4 muscle strength recovery. This further confirmed the diagnosis of GBS. In fact, the development of GBS after traumatic brain injury was first reported in 1987. Since then, there have been a few reports of GBS after traumatic brain injury in the past 3 decades. However, to date, this is the first report of GBS after posterior fossa decompression of severe traumatic brain injury accompanied by positive anti-sulfatide antibodies only in serum, and an interesting observation in our case is the asymmetric presentation of his symptoms. Clinically, GBS is usually defined by bilateral symmetrical paresis and hyporeflexia of the limbs, and starts in the distal lower extremities, but can start more proximally in the legs or arms. Logullo et al have been demonstrated in GCS and has been attributed to varying extents of immune-mediated pathology on either side of the sagittal plane. In addition, patients may present with cranial nerve involvement resulting in facial, oculomotor, or bulbar weakness, as in Miller Fisher syndrome, which might then extend to involve the. Although GBS is self-limited and immunotherapy has a certain effect, 5% of patients may die, and 20% of patients may be left with severe dysfunction. Studies have found that anti-glucolipid antibodies (including anti-ganglioside antibodies and anti-sulfatide antibodies) on the surface of peripheral nerve membranes are closely related to the pathogenesis of GBS. Sulfatide, also known as sulfatide, is an acidic glycolipid on myelin membrane that contains sulfuric acid residues and is different from ganglioside. It is very abundant in the nervous system, mainly located in the myelin sheath, and it plays an important role in maintaining the structure and physiological function of the nerve sheath. Under pathological conditions, sulfatide can promote the transverse growth of myelin sheath, affect its sorting and assembly, and affect the normal function of myelin proteins. Some scholars have made an animal model of peripheral neuropathy by sensitizing guinea pigs with sulfatide, and confirmed that sulfatide is involved in the occurrence and development of peripheral neuropathy. Moreover, some scholars believe that screening anti-sulfatide antibodies can be used as one of the basis for the diagnosis of peripheral neuropathy. At present, the pathogenic mechanism of anti-sulfatide antibodies in inflammatory peripheral neuropathy is not very clear. Some studies have found that patients with high titers of anti-sulfatide antibodies have widened myelin membrane gap under ultrastructure, and IgM-anti-sulfatide antibodies and complement factors are deposited on the myelin sheath of such patients by indirect immunofluorescence analysis, which may be the cause of peripheral nerve injury. Diagnosis of GBS is made based on symptoms and physical examination findings. The role of CSF testing and electrophysiological examination in the diagnosis of GBS is very important. Except for the case reported by Duncan and colleagues in 1987 without a lumbar puncture examination, all cases showed albuminocytological dissociation in CSF. The examination results of our case were consistent with the report. However, due to the rapid progression of the disease, the patient could not be weaned from the ventilator in the early stage, so the opportunity of neuroelectrophysiological examination was missed. Moreover, anti-sulfatide antibodies are closely associated with GBS. Some scholars have proposed that immunoglobulin trial treatment is also a way to diagnose GBS. GBS is an immune-mediated acute inflammatory peripheral neuropathy, so the main treatment at present is still immunotherapy. Intravenous IVIG and plasma exchange are the preferred treatment for GBS. IVIG regimen was 400 mg/(kg·d) by intravenous drip for 3 to 5 days. The plasma exchange protocol was 30 to 50 mL/kg, 3 to 5 times in 1 to 2 weeks. Although early studies have shown that plasma exchange is more likely to prevent the progression of GBS than IVIG, the incidence of adverse reactions is similar between plasma exchange and IVIG. However, IVIG is easier to administer clinically, so it is more widely used and usually preferred. Although some scholars have previously suggested that glucocorticoids can slow down the progression of the disease by reducing inflammation, 8 randomized controlled trials showed that corticosteroids had no significant effect on the treatment of GBS, and oral corticosteroids even brought varying degrees of adverse reactions. In addition, plasma exchange followed by IVIG was not superior to either monotherapy, and there was no significant difference in efficacy between IVIG combined with intravenous methylprednisolone and IVIG alone. GBS with positive anti-sulfatide antibody after craniotomy in adults is a very rare condition. It is difficult to diagnose because of its atypical clinical manifestations. However, clinicians should identify post-traumatic GBS when sudden limb weakness occurs in patients without limb dysfunction after severe traumatic brain injury. The detection of ganglioside antibody spectrum in CSF and plasma, neuroelectrophysiological examination, nerve biopsy, and routine detection of CSF are of guiding significance for the differential diagnosis of GBS. Timely and effective treatment in the acute stage of GBS is the key to reduce the mortality and disability rate, but the complete remission of symptoms may take a long time. The authors are grateful to the patient and his family for their support and cooperation. Conceptualization: Xiaobin Min, Haoye Feng, Hongjun Su. Data curation: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Formal analysis: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Visualization: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—original draft: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—review & editing: Xiaobin Min, Haoye Feng, Hongjun Su. Funding acquisition: Hongjun Su. | Clinical case | biomedical | en | 0.999997 |
PMC11688002 | Guillain–Barré syndrome (GBS) is an autoimmune disease, and the risk of GBS over a person’s lifetime is estimated at 1 in 1000. It affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy. It is an acute, postinfectious immune-mediated polyradiculoneuropathy typically arising a few days to 6 weeks after bacterial or viral infections including Campylobacter jejuni , Haemophilus influenzae , Mycoplasma pneumoniae , influenza, Epstein–Barr virus, cytomegalovirus, and more recently, Zika virus. It is, however, often associated with positive anti-ganglioside antibodies. It can also be triggered by pregnancy, surgery, or even vaccination. The mechanism by which surgery leads to GBS is currently not fully understood and may be the result of a systemic inflammatory response induced by surgical stress. Posterior fossa craniotomy as an inciting event is very uncommon with few reported cases. We reported a case of anti-sulfatide antibody-positive GBS following off-craniotomy for cerebellar contusion. A 79-year-old woman was admitted to the neurological intensive care unit for observation due to a careless fall. After the injury, the patient immediately developed coma, accompanied by nausea and vomiting. However, the patient was somnolent and Glasgow Coma Scale score was 14 on admission (eye-opening: 3 scores; verbal response: 5 scores; motor response: 6 scores). She denied a history of any infections, hypertension, diabetes, or heart disease. Emergency On non-contrast head computed tomography (CT), she was found to have contusion and laceration of left frontal lobe, left temporal lobe, and right cerebellar hemisphere with attendant traumatic subarachnoid hemorrhage, subdural hematomas, and occipital fracture . Electrocardiography revealed no abnormalities. The analysis of the cerebrospinal fluid (CSF) showed a total protein of 1.3 g/L and nuclear cell count of 3/µL. This indicated the albuminocytological dissociation. Anti-ganglioside antibodies (only anti-sulfatide antibodies) were detected to be positive in the patient’s serum but not in his CSF. Supportive treatments for the patient after admission were performed, such as electrocardio and blood pressure monitor, proton pump inhibitors to inhibit gastric acid secretion, neurotrophic drugs, and regular craniocerebral CT scans, but without gangliosides or their derivatives. Six hours after admission, the patient’s condition became worse, and her consciousness state was drowsy. An emergency head CT showed no new intracranial rebleeding. However the cerebellar hemisphere contusion and laceration were aggravated, accompanied by a local area of low-density edema was observed around the hematoma. At the same time, the patient’s brain stem was compressed and the cisterns were not clearly displayed. Therefore, cerebellar contusion and hematoma evacuation, along with decompressive craniectomy, were performed. On the first postoperative day, the patient underwent a follow-up cranial CT scan. The results of Figure 3 demonstrated post-evacuation alterations of a contusion hemorrhage in the right cerebellar hemisphere, with the creation of a local bone window. The interpeduncular and perimesencephalic cisterns were patent, and the previously observed brainstem compression was relieved. The patient’s symptoms continued to improve after surgery, and there was no motor and sensory disturbance. Seven days after surgery, the patient’s condition suddenly worsened, showing weakness in the right limb, especially in the upper limb. Ten hours later, the disease progressed to quadriplegia, autonomic dysfunction, dilated pupils, and respiratory failure. She was treated with endotracheal intubation and mechanical ventilation, but conscious. The examination of head CT and magnetic resonance imaging showed no intracranial delayed hemorrhage and cerebral infarction, and Guillebalan syndrome was considered in Figures 4 and 5 . The possibility of GBS was suggested and the lumbar puncture was subsequently performed. Intravenous immunoglobulin (IVIG) 2 g/kg was given daily. Five days later, the symptoms improved significantly, including spontaneous breathing strength, limb muscle strength recovered to grade 2, pain and temperature sensation recovered, and physical rehabilitation was continued. Six weeks later, the patient was discharged with grade 4 muscle strength recovery. This further confirmed the diagnosis of GBS. In fact, the development of GBS after traumatic brain injury was first reported in 1987. Since then, there have been a few reports of GBS after traumatic brain injury in the past 3 decades. However, to date, this is the first report of GBS after posterior fossa decompression of severe traumatic brain injury accompanied by positive anti-sulfatide antibodies only in serum, and an interesting observation in our case is the asymmetric presentation of his symptoms. Clinically, GBS is usually defined by bilateral symmetrical paresis and hyporeflexia of the limbs, and starts in the distal lower extremities, but can start more proximally in the legs or arms. Logullo et al have been demonstrated in GCS and has been attributed to varying extents of immune-mediated pathology on either side of the sagittal plane. In addition, patients may present with cranial nerve involvement resulting in facial, oculomotor, or bulbar weakness, as in Miller Fisher syndrome, which might then extend to involve the. Although GBS is self-limited and immunotherapy has a certain effect, 5% of patients may die, and 20% of patients may be left with severe dysfunction. Studies have found that anti-glucolipid antibodies (including anti-ganglioside antibodies and anti-sulfatide antibodies) on the surface of peripheral nerve membranes are closely related to the pathogenesis of GBS. Sulfatide, also known as sulfatide, is an acidic glycolipid on myelin membrane that contains sulfuric acid residues and is different from ganglioside. It is very abundant in the nervous system, mainly located in the myelin sheath, and it plays an important role in maintaining the structure and physiological function of the nerve sheath. Under pathological conditions, sulfatide can promote the transverse growth of myelin sheath, affect its sorting and assembly, and affect the normal function of myelin proteins. Some scholars have made an animal model of peripheral neuropathy by sensitizing guinea pigs with sulfatide, and confirmed that sulfatide is involved in the occurrence and development of peripheral neuropathy. Moreover, some scholars believe that screening anti-sulfatide antibodies can be used as one of the basis for the diagnosis of peripheral neuropathy. At present, the pathogenic mechanism of anti-sulfatide antibodies in inflammatory peripheral neuropathy is not very clear. Some studies have found that patients with high titers of anti-sulfatide antibodies have widened myelin membrane gap under ultrastructure, and IgM-anti-sulfatide antibodies and complement factors are deposited on the myelin sheath of such patients by indirect immunofluorescence analysis, which may be the cause of peripheral nerve injury. Diagnosis of GBS is made based on symptoms and physical examination findings. The role of CSF testing and electrophysiological examination in the diagnosis of GBS is very important. Except for the case reported by Duncan and colleagues in 1987 without a lumbar puncture examination, all cases showed albuminocytological dissociation in CSF. The examination results of our case were consistent with the report. However, due to the rapid progression of the disease, the patient could not be weaned from the ventilator in the early stage, so the opportunity of neuroelectrophysiological examination was missed. Moreover, anti-sulfatide antibodies are closely associated with GBS. Some scholars have proposed that immunoglobulin trial treatment is also a way to diagnose GBS. GBS is an immune-mediated acute inflammatory peripheral neuropathy, so the main treatment at present is still immunotherapy. Intravenous IVIG and plasma exchange are the preferred treatment for GBS. IVIG regimen was 400 mg/(kg·d) by intravenous drip for 3 to 5 days. The plasma exchange protocol was 30 to 50 mL/kg, 3 to 5 times in 1 to 2 weeks. Although early studies have shown that plasma exchange is more likely to prevent the progression of GBS than IVIG, the incidence of adverse reactions is similar between plasma exchange and IVIG. However, IVIG is easier to administer clinically, so it is more widely used and usually preferred. Although some scholars have previously suggested that glucocorticoids can slow down the progression of the disease by reducing inflammation, 8 randomized controlled trials showed that corticosteroids had no significant effect on the treatment of GBS, and oral corticosteroids even brought varying degrees of adverse reactions. In addition, plasma exchange followed by IVIG was not superior to either monotherapy, and there was no significant difference in efficacy between IVIG combined with intravenous methylprednisolone and IVIG alone. GBS with positive anti-sulfatide antibody after craniotomy in adults is a very rare condition. It is difficult to diagnose because of its atypical clinical manifestations. However, clinicians should identify post-traumatic GBS when sudden limb weakness occurs in patients without limb dysfunction after severe traumatic brain injury. The detection of ganglioside antibody spectrum in CSF and plasma, neuroelectrophysiological examination, nerve biopsy, and routine detection of CSF are of guiding significance for the differential diagnosis of GBS. Timely and effective treatment in the acute stage of GBS is the key to reduce the mortality and disability rate, but the complete remission of symptoms may take a long time. The authors are grateful to the patient and his family for their support and cooperation. Conceptualization: Xiaobin Min, Haoye Feng, Hongjun Su. Data curation: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Formal analysis: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Visualization: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—original draft: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—review & editing: Xiaobin Min, Haoye Feng, Hongjun Su. Funding acquisition: Hongjun Su. | Clinical case | biomedical | en | 0.999997 |
PMC11688002 | Guillain–Barré syndrome (GBS) is an autoimmune disease, and the risk of GBS over a person’s lifetime is estimated at 1 in 1000. It affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy. It is an acute, postinfectious immune-mediated polyradiculoneuropathy typically arising a few days to 6 weeks after bacterial or viral infections including Campylobacter jejuni , Haemophilus influenzae , Mycoplasma pneumoniae , influenza, Epstein–Barr virus, cytomegalovirus, and more recently, Zika virus. It is, however, often associated with positive anti-ganglioside antibodies. It can also be triggered by pregnancy, surgery, or even vaccination. The mechanism by which surgery leads to GBS is currently not fully understood and may be the result of a systemic inflammatory response induced by surgical stress. Posterior fossa craniotomy as an inciting event is very uncommon with few reported cases. We reported a case of anti-sulfatide antibody-positive GBS following off-craniotomy for cerebellar contusion. A 79-year-old woman was admitted to the neurological intensive care unit for observation due to a careless fall. After the injury, the patient immediately developed coma, accompanied by nausea and vomiting. However, the patient was somnolent and Glasgow Coma Scale score was 14 on admission (eye-opening: 3 scores; verbal response: 5 scores; motor response: 6 scores). She denied a history of any infections, hypertension, diabetes, or heart disease. Emergency On non-contrast head computed tomography (CT), she was found to have contusion and laceration of left frontal lobe, left temporal lobe, and right cerebellar hemisphere with attendant traumatic subarachnoid hemorrhage, subdural hematomas, and occipital fracture . Electrocardiography revealed no abnormalities. The analysis of the cerebrospinal fluid (CSF) showed a total protein of 1.3 g/L and nuclear cell count of 3/µL. This indicated the albuminocytological dissociation. Anti-ganglioside antibodies (only anti-sulfatide antibodies) were detected to be positive in the patient’s serum but not in his CSF. Supportive treatments for the patient after admission were performed, such as electrocardio and blood pressure monitor, proton pump inhibitors to inhibit gastric acid secretion, neurotrophic drugs, and regular craniocerebral CT scans, but without gangliosides or their derivatives. Six hours after admission, the patient’s condition became worse, and her consciousness state was drowsy. An emergency head CT showed no new intracranial rebleeding. However the cerebellar hemisphere contusion and laceration were aggravated, accompanied by a local area of low-density edema was observed around the hematoma. At the same time, the patient’s brain stem was compressed and the cisterns were not clearly displayed. Therefore, cerebellar contusion and hematoma evacuation, along with decompressive craniectomy, were performed. On the first postoperative day, the patient underwent a follow-up cranial CT scan. The results of Figure 3 demonstrated post-evacuation alterations of a contusion hemorrhage in the right cerebellar hemisphere, with the creation of a local bone window. The interpeduncular and perimesencephalic cisterns were patent, and the previously observed brainstem compression was relieved. The patient’s symptoms continued to improve after surgery, and there was no motor and sensory disturbance. Seven days after surgery, the patient’s condition suddenly worsened, showing weakness in the right limb, especially in the upper limb. Ten hours later, the disease progressed to quadriplegia, autonomic dysfunction, dilated pupils, and respiratory failure. She was treated with endotracheal intubation and mechanical ventilation, but conscious. The examination of head CT and magnetic resonance imaging showed no intracranial delayed hemorrhage and cerebral infarction, and Guillebalan syndrome was considered in Figures 4 and 5 . The possibility of GBS was suggested and the lumbar puncture was subsequently performed. Intravenous immunoglobulin (IVIG) 2 g/kg was given daily. Five days later, the symptoms improved significantly, including spontaneous breathing strength, limb muscle strength recovered to grade 2, pain and temperature sensation recovered, and physical rehabilitation was continued. Six weeks later, the patient was discharged with grade 4 muscle strength recovery. This further confirmed the diagnosis of GBS. In fact, the development of GBS after traumatic brain injury was first reported in 1987. Since then, there have been a few reports of GBS after traumatic brain injury in the past 3 decades. However, to date, this is the first report of GBS after posterior fossa decompression of severe traumatic brain injury accompanied by positive anti-sulfatide antibodies only in serum, and an interesting observation in our case is the asymmetric presentation of his symptoms. Clinically, GBS is usually defined by bilateral symmetrical paresis and hyporeflexia of the limbs, and starts in the distal lower extremities, but can start more proximally in the legs or arms. Logullo et al have been demonstrated in GCS and has been attributed to varying extents of immune-mediated pathology on either side of the sagittal plane. In addition, patients may present with cranial nerve involvement resulting in facial, oculomotor, or bulbar weakness, as in Miller Fisher syndrome, which might then extend to involve the. Although GBS is self-limited and immunotherapy has a certain effect, 5% of patients may die, and 20% of patients may be left with severe dysfunction. Studies have found that anti-glucolipid antibodies (including anti-ganglioside antibodies and anti-sulfatide antibodies) on the surface of peripheral nerve membranes are closely related to the pathogenesis of GBS. Sulfatide, also known as sulfatide, is an acidic glycolipid on myelin membrane that contains sulfuric acid residues and is different from ganglioside. It is very abundant in the nervous system, mainly located in the myelin sheath, and it plays an important role in maintaining the structure and physiological function of the nerve sheath. Under pathological conditions, sulfatide can promote the transverse growth of myelin sheath, affect its sorting and assembly, and affect the normal function of myelin proteins. Some scholars have made an animal model of peripheral neuropathy by sensitizing guinea pigs with sulfatide, and confirmed that sulfatide is involved in the occurrence and development of peripheral neuropathy. Moreover, some scholars believe that screening anti-sulfatide antibodies can be used as one of the basis for the diagnosis of peripheral neuropathy. At present, the pathogenic mechanism of anti-sulfatide antibodies in inflammatory peripheral neuropathy is not very clear. Some studies have found that patients with high titers of anti-sulfatide antibodies have widened myelin membrane gap under ultrastructure, and IgM-anti-sulfatide antibodies and complement factors are deposited on the myelin sheath of such patients by indirect immunofluorescence analysis, which may be the cause of peripheral nerve injury. Diagnosis of GBS is made based on symptoms and physical examination findings. The role of CSF testing and electrophysiological examination in the diagnosis of GBS is very important. Except for the case reported by Duncan and colleagues in 1987 without a lumbar puncture examination, all cases showed albuminocytological dissociation in CSF. The examination results of our case were consistent with the report. However, due to the rapid progression of the disease, the patient could not be weaned from the ventilator in the early stage, so the opportunity of neuroelectrophysiological examination was missed. Moreover, anti-sulfatide antibodies are closely associated with GBS. Some scholars have proposed that immunoglobulin trial treatment is also a way to diagnose GBS. GBS is an immune-mediated acute inflammatory peripheral neuropathy, so the main treatment at present is still immunotherapy. Intravenous IVIG and plasma exchange are the preferred treatment for GBS. IVIG regimen was 400 mg/(kg·d) by intravenous drip for 3 to 5 days. The plasma exchange protocol was 30 to 50 mL/kg, 3 to 5 times in 1 to 2 weeks. Although early studies have shown that plasma exchange is more likely to prevent the progression of GBS than IVIG, the incidence of adverse reactions is similar between plasma exchange and IVIG. However, IVIG is easier to administer clinically, so it is more widely used and usually preferred. Although some scholars have previously suggested that glucocorticoids can slow down the progression of the disease by reducing inflammation, 8 randomized controlled trials showed that corticosteroids had no significant effect on the treatment of GBS, and oral corticosteroids even brought varying degrees of adverse reactions. In addition, plasma exchange followed by IVIG was not superior to either monotherapy, and there was no significant difference in efficacy between IVIG combined with intravenous methylprednisolone and IVIG alone. GBS with positive anti-sulfatide antibody after craniotomy in adults is a very rare condition. It is difficult to diagnose because of its atypical clinical manifestations. However, clinicians should identify post-traumatic GBS when sudden limb weakness occurs in patients without limb dysfunction after severe traumatic brain injury. The detection of ganglioside antibody spectrum in CSF and plasma, neuroelectrophysiological examination, nerve biopsy, and routine detection of CSF are of guiding significance for the differential diagnosis of GBS. Timely and effective treatment in the acute stage of GBS is the key to reduce the mortality and disability rate, but the complete remission of symptoms may take a long time. The authors are grateful to the patient and his family for their support and cooperation. Conceptualization: Xiaobin Min, Haoye Feng, Hongjun Su. Data curation: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Formal analysis: Xiaobin Min, Haoye Feng, Riguang Zhao, Zhigang Guo, Hongjun Su. Visualization: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—original draft: Xiaobin Min, Haoye Feng, Hongjun Su. Writing—review & editing: Xiaobin Min, Haoye Feng, Hongjun Su. Funding acquisition: Hongjun Su. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688065 | Epithelioid hemangioendothelioma (EHE) is an exceedingly rare tumor derived from vascular endothelial cells that may manifest in various body parts, including the liver, lungs, soft tissues, and bones. When EHE presents in lung tissue, it is termed pulmonary epithelioid hemangioendothelioma (P-EHE), constituting 19% of all EHE cases and classified as a rare tumor with low to moderate malignancy. This paper reports a case of P-EHE with pleural metastasis and reviews the clinical and pathological characteristics of the disease based on existing literature. The patient, a 50-year-old female, was found to have lung shadows during a routine physical examination at an external hospital. She later sought medical attention at our facility due to recurrent coughing and excess phlegm production. She had a history of type 2 diabetes mellitus, denied any history of smoking or tuberculosis, and had no family history of cancer. Laboratory examination revealed hypersensitive C-reactive protein at 30.1 mg/L, a negative tuberculosis infection T-cell test, squamous carcinoma-associated antigen at 0.4 ng/mL, and cytokeratin 19 fragment at 1.1 ng/mL. Our initial chest computed tomography (CT) indicated a mass-like high-density shadow in the upper lobe of the left lung, measuring approximately 5.1 × 3.6 cm with uneven internal density and unclear borders, which was suspected to be inflammatory . Despite anti-biotic treatment, the response was poor. A subsequent chest CT showed that the mass in the upper lobe of the left lung had enlarged (5.9 × 4.6 cm), with increased lymph node size in the left hilar and mediastinal areas . 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) examination revealed a nodular, slightly high-density shadow in the upper lobe of the left lung with increased FDG metabolism near the hilum and margin, showing a maximum SUV of approximately 6.3; uneven thickening of the adjacent mediastinal pleura with a mild increase in FDG metabolism, reaching a maximum SUV of about 2.8; and several slightly enlarged lymph nodes in the left pulmonary hilum and mediastinum area 6 with increased FDG metabolism, with a maximum SUV value of approximately 3.1 . Organizing pneumonia was considered, and treatment with methylprednisolone 40 mg qd was initiated, but the outcome remained unfavorable. To further confirm the diagnosis, thoracoscopic surgery was conducted on September 9, 2022, involving a left upper lung wedge resection, left lower lung pleural biopsy, chest wall pleural biopsy, and lung repair. The surgery revealed the lesion was located in the left upper lung with scattered nodules on the pleural surface. Postoperative pathological examination initially suggested an epithelioid vascular endothelial tumor in the upper left lung; heteromorphic cells were also found in the fibrous adipose tissue of pleural nodules, consistent with epithelioid vascular endothelial tumors. Immunohistochemistry was negative for Napsin A, TTF-1, CK (pan), Vimentin, CgA, CD56, Syn, Calretinin, CK7, and EMA, and positive for CD34, INI-1, BRG1, Fli-1, CD31, and ERG. The final diagnosis was P-EHE. Treatment began on September 26, 2022, including chemotherapy (ifosfamide, epirubicin, paclitaxel), targeted therapy (bevacizumab, anlotinib), and immunotherapy ( cardonilizumab ); however, the treatment outcomes were disappointing. The disease progressed, invading bones, soft tissues, and multiple lymph nodes , and the patient suffered severe side effects, including Grade IV myelosuppression. Unfortunately, the patient and her family decided to discontinue treatment. A follow-up phone call revealed that the patient had passed away on May 18, 2023; the exact cause of death was not determined. The average age of onset for P-EHE is around 40 years, and it predominantly affects women; the incidence in women is 2 to 4 times higher than in men. The overall prognosis of P-EHE is favorable, featuring a median survival time of 4.6 years and a 5-year survival rate of approximately 60%. Key prognostic factors include anemia, pleural invasion, lymph node metastasis, and metastasis to distant organs. The clinical symptoms of P-EHE are often nonspecific and may encompass dyspnea, cough, chest pain, hemoptysis, weight loss, and fever. Statistically, nearly 50% of patients are asymptomatic and are diagnosed incidentally during routine physical examinations. P-EHE has the potential to metastasize, affecting pleural and mediastinal lymph nodes, and can spread to the liver, skin, bones, spleen, and central nervous system. In this particular case, the patient was initially identified with a lesion in the left upper lobe during a health screening, later exhibiting symptoms such as cough and sputum production, and eventually presenting with multiple metastases of the lesion. The most characteristic radiographic feature of P-EHE is the presence of bilateral or unilateral, scattered, small nodules with well-defined edges, generally smaller than 20 mm in diameter, and aligned along the bronchovascular bundles. Isolated lesions in P-EHE are rare, and the largest dimension of these lesions often exceeds 50 mm. In this instance, a chest CT scan identified a single lesion in the upper lobe of the left lung, measuring about 5.1 × 3.6 cm. Compared to CT, 18 F-FDG PET/CT is more effective in differentiating between benign and malignant tumors and is crucial in locating primary lesions and detecting additional metastases. In this case, the 18 F-FDG PET/CT revealed a mass-like, slightly hyperdense shadow in the upper lobe of the left lung, increased 18 F-FDG metabolism in several lymph nodes in the left hilar and mediastinal regions, and mildly increased 18 F-FDG metabolism in the adjacent mediastinal pleura. Given that P-EHE lacks specific clinical symptoms, laboratory tests, or imaging characteristics, the definitive diagnosis hinges on pathology and immunohistochemistry findings. Under high-power microscopy, the tumor cells are arranged in strips, nests, or irregular sheets. These cells are epithelioid with abundant eosinophilic, polygonal, or rounded cytoplasm, and some contain small vacuoles. Occasionally, primitive vascular lumens containing single erythrocytes can be observed. Peripheral tumor cells may extend into the surrounding lung tissue along the alveolar septa’s small blood vessels. The alveolar epithelium adjacent to the tumor often exhibits reactive hyperplasia. In rare instances, tumor cells may invade the alveolar or bronchial walls in a dumbbell shape and become infiltrative. Immunohistochemical staining serves as a crucial diagnostic aid for P-EHE, with most tumors expressing vascular antigens such as CD31, CD34, Fli-1, ERG, or Ulex1. CD31 is particularly specific as a vascular tumor marker. The immunohistochemistry in this case displayed positive expression of CD31, CD34, ERG, and Fli-1, aiding significantly in establishing the diagnosis. Since P-EHE is a rare condition, there is no established standard treatment protocol. Generally, if the lesion is solitary and localized, surgical removal is feasible. Notably, both wedge resection and extensive lobectomy offer similar survival outcomes. However, P-EHE typically presents with multiple lesions spanning both lungs, making complete surgical removal impractical. Therefore, chemotherapy and targeted therapy are the recommended treatment options. Radiotherapy is generally ineffective for P-EHE but can be utilized as palliative care for symptomatic relief in other organ metastases, such as bone metastases where it can effectively alleviate pain. Chemotherapy regimens for P-EHE may include adriamycin, cyclophosphamide, paclitaxel, carboplatin, ifosfamide, doxorubicin, vincristine, and actinomycin. As P-EHE originates from blood vessel endothelium, angiogenesis inhibitors such as bevacizumab, apatinib, pazopanib, sorafenib, and sunitinib have been employed in advanced stages. [ 12 – 14 ] Immunosuppressive agents like programmed death 1 (PD-1) inhibitors and programmed cell death-ligand 1 (PD-L1) inhibitors are also being explored for treatment. Due to the malignancy and severe side effects associated with treatment, patients may experience significant distress in advanced stages of the disease, and some treatments may even hasten death. In this case, although the patient initially presented with a single lesion, pleural and lymph node metastases were already evident at the time of surgery. Consequently, chemotherapy, targeted therapy, and immunotherapy were administered postoperatively, yet the patient experienced disease progression and severe adverse drug reactions during treatment. In summary, we have detailed a rare, solitary case of P-EHE that was initially mistaken for pneumonia. Our objective is to elevate clinicians’ awareness of P-EHE by sharing our findings, aiming to minimize missed and incorrect diagnoses, thus facilitating timely and effective treatment for patients. Given the absence of a unified and effective treatment standard for this condition, we also anticipate the development of standardized, scientific, and optimized comprehensive treatment strategies for P-EHE through future research efforts. Investigation: Zhengsen Cui, Liuyan Zhao. Methodology: Zhengsen Cui. Resources: Zhengsen Cui. Supervision: Zhengsen Cui. Writing – original draft: Rong Xuan, Liuyan Zhao. Writing – review & editing: Rong Xuan, Liuyan Zhao. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11688081 | As the most common benign neoplastic lesion of the liver, hepatic cysts contain a clear fluid in their cysts, ranging from a few millimeters to tens of centimeters in diameter. Most simple hepatic cysts are incidentally detected by ultrasound or computed tomography (CT) during physical examination. Because hepatic cysts are usually asymptomatic, they do not require treatment, except when there are severe complications. Unlike smaller cysts, larger cysts are more prone to complications such as bleeding, rupture, infection, and biliary tract compression. Mass effect and compression of adjacent structures are the most common complications. Most patients present with abdominal pain, and in rare cases, intracapsular hemorrhage can be complicated. When liver cysts contain large amounts of blood clots, it is difficult to differentiate such lesions from cystic echinococcosis or cystic liver tumors on diagnostic imaging. After an extensive literature search, we found that hepatic cysts with hemorrhage have not been misdiagnosed as cystic hepatic echinococcosis. We hope that this case highlights the importance of imaging in the diagnosis of hepatic cysts with hemorrhage, even in patients with a clear history of travel to the epidemic area and positive specific serum antibodies. Written informed consent was obtained from the patients, and the surgical case report criteria was met. A 24-year-old female patient was admitted to the hospital due to swelling and pain in the right upper abdomen for >1 month. The pain in the right upper quadrant was not severe, accompanied by pain and discomfort in the right shoulder. The patient denied any gastrointestinal symptoms such as nausea, vomiting, constipation, and diarrhea, as well as fever, chills, and jaundice of the skin and sclera. The patient had not taken any treatment for the relief of her symptoms before he presented to our hospital. In addition, it is worth noting that the patient came from the Tibetan area of western Sichuan, which is one of the endemic areas of echinococcosis in China, and had a clear history of living in the endemic area. The rest of the medical history and family history were normal. Because the patient had lived in an endemic area of hepatic echinococcosis for many years, she expressed concern to us during the course of the history taking that echinococcosis might be the cause of her current illness. Physical examination revealed a slight bulge in the right upper quadrant with mild tenderness, without rebound or muscle tension. The liver was enlarged, and the lower edge of the liver was palpable. Contrast-enhanced computed tomography of the abdomen revealed a 14 × 11.3 cm cystic lesion in the right lobe of the liver with a high-density mass within it and no significant enhancement .The complete blood count, electrolytes, and eosinophil count were normal, alanine aminotransferase and alkaline phosphatase were slightly elevated, albumin was slightly decreased, and alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen were within normal limits. Results of stool parasitology and white-cell testing were negative. However, a serologic test for echinococcus antibodies in the patient was positive for anti-echinococcus immunoglobulin G antibodies. Therefore, after considering the patient’s symptoms, history of travel to endemic areas, imaging findings, and serologic test results for echinococcus antibodies, we highly suspected that the patient had cystic hepatic echinococcosis. After completing all preoperative preparations and a thorough assessment of surgical risks, we prepared the patient for right lobectomy of the liver and repair of the portal vein and vena cava. During the operation, we found a large cystic lesion in the right liver lobe that was tightly adhered to the diaphragm. Dissection of the excised giant cyst revealed a rough internal surface that was filled with dark chocolate fluid. Postoperative pathological examination confirmed that the effusion was a hepatic cyst with old hemorrhage in the cyst, and no Echinococcus granulosus ( E granulosus ) and other parasitic infectious lesions were found. Inflammatory infiltration around the cyst wall contained a large amount of fibrotic scar tissue. The patient was discharged healthy 5 days after surgery, and we found no evidence of echinococcosis when we followed up the patient’s abdominal CT scan 4 months after surgery . Due to the limitation of her own economic conditions, the patient did not return to our medical institution after the reexamination 4 months after the operation. We learned by telephone that the patient recovered well after the operation, and no evidence of hepatic echinococcosis infection was found. Simple hepatic cysts are typically cystic, thin-walled masses with fluid-filled epithelial lining lacunae. It is often caused by abnormal development of the bile duct during the embryonic period. Its incidence ranges from 2.5% to 18% and increases with age. The cyst wall is lined with epithelial cells that secrete clear fluid. Congenital hepatic cysts grow slowly and vary in size. Small hepatic cysts are usually asymptomatic; however, the appearance of a compression effect as a hepatic cyst grows can cause abdominal discomfort, pain, bloating, and gastrointestinal symptoms such as nausea, vomiting, fullness, and early satiety. When the cyst grows to a certain extent, a palpable abdominal mass may appear. The common complications of simple hepatic cysts include infection, spontaneous hemorrhage, rupture, and external compression of the biliary tree and major blood vessels. It should be noted that in some simple hepatic cysts, due to excessive pressure in the cyst cavity, necrosis of the vascular epithelial tissue of the cyst wall may occur and lead to the occurrence of intracystic hemorrhage. The main clinical manifestations of hepatic cysts with intracystic hemorrhage were acute or chronic abdominal pain in most patients, rapid increase in cystic mass volume and jaundice during regular examination. As a rare complication of hepatic cysts, intracystic hemorrhage is not common in clinical practice. At present, congenital hepatic cysts with intracystic hemorrhage can be treated nonoperatively or surgically. The nonsurgical method is mainly percutaneous puncture drainage, which is mainly used for patients with poor general conditions or elderly patients. The recurrence rate of nonsurgical treatment is relatively high. Some studies have reported a recurrence rate of up to 100% after percutaneous puncture and drainage. Surgical procedures included cyst fenestration, liver resection, and liver transplantation. Liver resection should be considered if cystic hepatic echinococcosis, cystadenoma, or cystadenocarcinoma cannot be ruled out. Liver transplantation is suitable for patients with poor liver function, who cannot tolerate surgery, and those with small residual functional liver volume. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or magnetic resonance imaging (MRI) examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Simple hepatic cysts have typical imaging manifestations and are easy to be diagnosed clinically, but the imaging manifestations of hepatic cysts with intracystic hemorrhage are complex. Intracystic hemorrhage showed changes in cyst density, blood stratification in the cyst, or diffuse irregular hyperecho on imaging. Several neoplastic lesions of the liver can be confused with hepatic cysts with hemorrhage, including biliary cystadenoma, cystadenocarcinoma, and primary embryonal sarcoma. According to clinical and imaging data, it is sometimes difficult to distinguish hemorrhagic hepatic cysts from cystic malignant tumors when mural nodules with enhancement after intravenous administration of contrast material appear on CT or MRI examination. It is also worth to note that hemorrhagic cystic lesions are hyperintense on T1-weighted images, nonhemorrhagic cystic lesions are hypointense on T1-weighted images, and both cystic lesions are hyperintense on T2-weighted images. Nonhemorrhagic cysts are typically hypodense on CT, whereas hemorrhagic cysts can appear hyperdense in the acute phase and hypodense or mixed density after the acute phase. All of the above conditions may lead to a variety of changes in the imaging picture of simple hepatic cysts. These alterations make it difficult to diagnose hepatic cysts with hemorrhage on imaging with other liver diseases such as hydatid disease, biliary cystadenoma, or cystadenocarcinoma. Biliary cystadenocarcinoma, as a rare malignant epithelial tumor of the liver, lacks specific clinical manifestations. When the tumor increases and compresses the surrounding liver tissue and adjacent organs, abdominal pain, abdominal distension, jaundice, and abnormal liver function may occur. It is worth noting that although the above characteristics can also appear in patients with hepatic cysts and hemorrhage, the elevation of tumor markers (CA19-9, CA-125, etc) seems to be an important indicator to distinguish them. The occurrence of hepatic cystic metastases usually has a history of primary tumors, and the metastatic tumors vary in size and shape. Through imaging examination, patients can even find the presence of metastatic tumors in other parts of the patient, and the typical “bull’s eye sign” can appear under CT enhanced scanning. Tumor markers are also key to distinguish cystic metastases from hepatic cysts with hemorrhage. On preoperative examination, tumor markers, including alpha-fetoprotein, carcinoembryonic antigen, and serum carbohydrate antigen, were in the normal range; therefore, disease related to liver cancer was not considered in this patient’s diagnosis. Pyogenic liver abscess as an infectious disease, fever, chills and leukocytosis are important characteristics that distinguish it from hepatic cysts with hemorrhage. At the same time, due to the necrosis of the central area of the abscess and the formation of a peripheral edema zone, we usually see an air-fluid level and a peripheral edema zone without enhancement. Suppurative liver abscess was also excluded on the basis of the patient’s symptoms and imaging features. We sorted out the imaging features of hepatic cysts with hemorrhage and various other diseases (Table 1 ). Cystic echinococcosis is a zoonotic disease caused by infection with E granulosus , which is caused by E granulosus , one of the smallest tapeworms in the family Taeniidae. During the life cycle of E granulosus , humans may occasionally become intermediate hosts through handling animal or egg-containing feces, plants, edible vegetables, undercooked fruit and drinking water containing eggs. Clinically, patients are usually asymptomatic at the beginning of infection, and the asymptomatic stage of infection can last for many years. Symptoms of hepatic cystic echinococcosis include epigastric pain, hepatomegaly, cholestasis, biliary cirrhosis, portal hypertension, and ascites. Serious complications include hydatid cyst rupture into the abdominal cavity leading to severe allergic reactions, secondary cystic echinococcosis, and cyst rupture into the biliary tract leading to cholangitis and cholestasis. Conventional imaging studies including ultrasound, CT scan and MRI scan can be used to detect hepatic echinococcosis. Serological examination is the main method for the diagnosis of hepatic echinococcosis. In very special cases, ultrasound-guided fine needle aspiration biopsy is essential for diagnosis. Studies have shown that the diagnosis of hepatic echinococcosis is usually based on the following criteria: the patient has a clear history of living in the epidemic area and the common clinical manifestations of hepatic echinococcosis (such as abdominal pain, chest pain, and fever), and the patient has a positive immunodiagnostic test and the presence of cystic space-occupying lesions in the liver by imaging examination. We comprehensively considered the patient’s history of living in the echinococcosis endemic area, abdominal ultrasound, and enhanced CT examination suggesting a huge cystic space-occupying lesion in the right lobe of the liver with a slightly increased density of cystic contents and positive anti-echinococcus immunoglobulin G antibody, and therefore, the cystic lesion in the right lobe of the liver was diagnosed as hepatic echinococcosis. Surgical treatment was performed. Although the patient recovered and was discharged from the hospital, this underscores the importance of imaging in the identification of hepatic hydatid disease and hepatic cysts with bleeding, even when the patient has a clear history of soresidence in an epidemic area and serologic testing is positive. The history of sobbed in the epidemic area can only be used as one of the diagnostic clues. Although the patient had mild tenderness in the right upper quadrant and accompanied by pain and discomfort in the right shoulder, this clinical manifestation was not obvious specificity. Serological test results can be used as one of the means of confirming hepatic echinococcosis, but their sensitivity is low and depends in part on the location of the cyst in the body and the cystic stage. Up to 20% of patients with solitary hepatic hydatid disease and up to 50% of patients with pulmonary hydatid disease may be seronegative at the time of diagnosis, whereas hydatid disease at other sites is usually seronegative. False positive results are most commonly cross-reactive and are often associated with cross-reactions to other tapeworm infections ( Echinococcus multilocularis , Taenia solium cysticercosis) and some other parasitic diseases (schistosomiasis, liver fluxus, filariasis), as well as noninfectious diseases such as malignancies and cirrhosis. In conclusion, imaging studies are important in differentiating hepatic cystic lesions including hepatic cysts with hemorrhage from hepatic echinococcosis. By searching a large number of literatures, we summarized the image characteristics and differential points of hepatic cysts with hemorrhage and other hepatic cystic lesions in conventional imaging examinations (including X-ray, ultrasound, CT, MRI, and nuclear medicine). It is expected to provide more imaging support for the clinical diagnosis of hepatic cysts with hemorrhage. There were no indications of a parasite infection, such as E granulosus , despite the postoperative pathology results confirming that the patient had a hepatic cyst with intracystic bleeding. Four months following surgery, the patient’s abdomen CT scan revealed no signs of echinococcosis. After surgery, we intended to continue imaging to check for recurrence, however the patient did not continue follow-up at this facility due to financial constraints. As a result, the patient’s status following surgery could not be further understood due to the loss of follow-up. In this case, we overemphasized the importance of the serological test results of hydatid disease and the patient’s travel history in the epidemic area, and failed to comprehensively analyze the imaging examination results of the patient’s hepatic cystic lesions. At the same time we underestimated the imaging examination in diagnosis of liver cyst and hemorrhage and to identify the liver can play a role in the cystic lesion. Therefore, this case raises the awareness of hepatic cyst and its complications, and emphasizes the importance of imaging examination for the diagnosis of hepatic cyst with hemorrhage. In addition, routine imaging images of hepatic cystic space-occupying lesions including hepatic echinococcosis should be analyzed more comprehensively before diagnosis to reduce the misdiagnosis of atypical hepatic cysts and their complications, which is very important for the choice of subsequent treatment for patients. The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. Resources: Yan He. Supervision: Jun Wang. Writing – original draft: Shuang Wang, Yan He, Xuchang He. Writing – review & editing: Shuang Wang. | Clinical case | biomedical | en | 0.999997 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693096 | Local recurrence after surgery for UTUC varies in recurrence rates depending on risk factors, with recurrences usually occurring within 2 years after surgery. Local recurrence 10 years postoperatively is extremely rare. Herein, we report a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. A 67‐year‐old female was referred to our urology department with a left ureteral tumor detected on CT. Contrast‐enhanced CT confirmed the diagnosis of left renal pelvic and ureteral cancer (cT3N0M0) . A laparoscopic left nephroureterectomy was performed. The pathological diagnosis revealed UC at the pT3 stage, with the tumor extending from the renal pelvis to the lower ureter, although with negative surgical margins . No cellular component in this lesion displayed differentiation into squamous epithelium . Pathological examination revealed a Grade 3 component with a disorganized nuclear arrangement and increased cell density, nuclear chromatin, and nuclear fission pattern. There was lymphovascular invasion, no vascular invasion, and negative margins (pT3 Invasive UC Grade2>3 INFb ly1 v0 RM0). Subsequently, she received six courses of adjuvant chemotherapy with gemcitabine/nedaplatin therapy instead of gemcitabine/cisplatin therapy because of decreased renal function, and no subsequent evidence of recurrence was noted. Then, 10 years after nephroureterectomy, a MRCP imaging incidentally revealed a mass lesion in the left retroperitoneum , and a PET‐CT scan showed abnormal FDG uptake at the same site (SUV max = 12.08) . A CT‐guided biopsy was performed for diagnosis. The histology of the retroperitoneal recurrent lesion showed SCC with keratinization and intercellular bridges . Immunohistochemical staining was diffusely positive for cytokeratin 5/6, P40 and P63 . There was no typical UC component in this lesion, as those observed in renal pelvis tumors. Blood biochemical findings were as follows: white blood cell, 7200/mm 3 ; hemoglobin (Hb), 13.3 g/dL; platelet, 22.4 × 10 4 /mm 3 ; blood urea nitrogen, 16.5 mg/dL; creatinine, 1.01 mg/dL; aspartate aminotransferase, 23 IU/L; alanine aminotransferase, 13 IU/L; alkaline phosphatase, 102 IU/L; lactate dehydrogenase, 229 IU/L; HbA1c, 8.4% (normal range: <6.3%); SCC, 39.2 ng/mL (normal range: <1.5 ng/mL); alpha‐fetoprotein, 8.65 ng/mL; and protein induced by vitamine K absence or antagonist II, 24 mAU/mL. [Correction added on 11 November 2024, after first online publication: The term ‘aspartate aminotransrerase’ has been corrected to ‘aspartate aminotransferase’. Despite the suspected distant metastasis of other organ tumors, examinations such as digestive endoscopy and bronchoscopy did not reveal any tumor lesions. The patient was diagnosed with recurrent invasive UC as a pathological feature of SCC, and CF therapy was initiated. After two courses, the assessment showed an increase in retroperitoneal metastatic lesions, leading to the determination of PD. Consequently, pembrolizumab therapy was administered as the second‐line treatment, maintaining a PR for 11 months and causing a decrease in SCC to 2.5 ng/mL. We encountered a rare case of retroperitoneal recurrence as SCC 10 years after nephroureterectomy. Local recurrence after surgery for UTUC varies depending on the risk factors (tumor in both the renal pelvis and ureter, T stage >2, lymph node involvement, grade 3 histology, and positive surgical margins), with recurrence usually occurring within 2 years of surgery. 1 Local recurrence 10 years postoperatively is extremely rare. Approximately 5–10% of UTUC exhibit SqD, 2 which is closely associated with chronic irritation, infection, and inflammation. 3 In the present case, the pathological diagnosis after nephroureterectomy was PUC without variants; however, the histological subtype at the time of recurrence differed from the initial diagnosis of renal pelvic and ureteral cancer. No lesions suggestive of a primary tumor were found, and considering that it was a retroperitoneal recurrence, it was diagnosed as a recurrence of renal pelvic and ureteral cancer. No local recurrence pattern showing a different histological appearance from PUC more than 10 years after surgery was found within the scope of our literature search. However, it is unlikely that an original PUC would recur as pure SCC 10 years later. Therefore, this case is more likely a UC recurrence with SqD. Standard drug therapy for SCC of the urothelium has not been established 2 , 4 , and only prospective studies of combination chemotherapy (ITP therapy; paclitaxel, ifosfamide, and cisplatin) have been reported. 5 In addition, pembrolizumab therapy has been reported to be highly effective in the treatment of VUC. 6 Other reports have suggested that the response of VUC to treatment with pembrolizumab was not inferior to that of PUC. 7 In particular, the presence of SqD did not affect the response after pembrolizumab as compared with PUC or non‐squamous VUC. 8 In this case, following the standard treatment for SCC in other areas, 9 the patient underwent CF therapy, resulting in a PD assessment, but then received pembrolizumab therapy, maintaining PR. There are no confirmed reports regarding the effectiveness of radiotherapy for local recurrence after nephroureterectomy. 1 Considering the proximity of the recurrence site to the intestine, radiotherapy was not performed in this case. Moving forward, continued follow‐up with CT scans and tumor markers will be conducted. If the efficacy of pembrolizumab therapy diminishes, paclitaxel will be used as the next therapy in accordance with the standard treatment for SCC in other areas. We encountered a rare case of peritoneal recurrence as SCC 10 years after a total nephroureterectomy. A recurrent pattern showing a different histological appearance as SCC more than 10 years after surgery has not been reported in the literature. Koichiro Uehara: Writing – original draft. Tatsuaki Onuki: Writing – review and editing. Yukari Ishibashi: Data curation. Sayuki Matsunuma: Data curation. Hiroaki Ishida: Data curation. Jiro Kumagai: Writing – review and editing. Takayuki Murakami: Supervision. The authors declare no conflict of interest. Not applicable. Written informed consent for publication was obtained from the patient. Not applicable. | Clinical case | biomedical | en | 0.999995 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11693112 | Hemorrhage resulting from RAP is an uncommon yet significant complication that may arise following renal trauma, biopsy, percutaneous nephrostomy, PCNL, and partial nephrectomy. Although the occurrence of this potentially life‐threatening complication is below 1%, its incidence is expected to rise due to the growing adoption of endoscopic renal procedures. 1 However, the risk of RAP is higher in the case of PCNL done in a solitary kidney because of the hypertrophy of the renal parenchyma. 2 Renal angiography can be used for diagnosing RAP of an interlobar artery. Ultrasound guidance presents a distinctive alternative to fluoroscopy for percutaneous renal access. In addition to avoiding ionizing radiation exposure for both the patient and intraoperative staff, it provides numerous benefits, such as improved visualization of the posterior renal calyx and adjacent visceral structures. 1 , 3 We present a 41‐year‐old male with a solitary right kidney presented with hematuria and a RAP post‐PCNL and its comprehensive management. A 41‐year‐old male with a solitary right kidney presented with hematuria and episodic fever 3 months after PCNL. He had a percutaneous nephrostomy tube in place with daily hemorrhagic fluid output of 200–300 mL and reduced urine output. The tube was retained to ensure adequate kidney drainage, monitor for residual fragments or complications, and manage delayed healing of the nephrostomy tract. The patient had received 13 units of blood transfusion post‐PCNL. No other significant medical history was reported. The patient appeared fatigued with stable vital signs and right flank tenderness. The percutaneous nephrostomy tube site was clean. Laboratory results showed hemoglobin of 8.4 g/dL, serum creatinine of 3.2 mg/dL, and a urine creatinine ratio of 22.9 mg/dL. The radiological imaging and ultrasonography revealed hypertrophied right kidney and perinephric collections of 100 mL. Additionally, the presence of a PCN tube was noted. Most importantly, an anechoic cystic lesion at the midpole of the kidney was identified. Later, ultrasound Doppler imaging confirmed that there was turbulent flow within this anechoic lesion, strongly suggesting that there was a RAP, as shown in Figure 1 . These findings collectively guided the clinical evaluation and treatment approach for the patient's hematuria and related symptoms. After consulting with the interventional radiology team, the management of this complex case aimed to address a RAP following a recent PCNL procedure. A 5F vascular sheath and 5F SIMS catheter were used to access the right femoral artery, allowing catheter advancement to the right renal artery for angiography, as shown in Figure 2 . However, complications arose as renal vessels entered spasm, preventing further catheter progression. Despite administering intravascular vasodilators, the arterial spasm persisted, necessitating the procedure's abandonment due to the heightened risk of arterial dissection. A more successful approach was pursued, where a direct percutaneous embolization procedure was meticulously planned under the guidance of ultrasound and digital subtraction angiography (DSA). This involved the percutaneous puncture of the RAP using an 18‐G vygon needle, guided by ultrasonographic imaging. An angiogram, conducted under DSA guidance with the use of a water‐soluble radiographic contrast agent (Visipaque), confirmed the presence of the contrast‐filled pseudoaneurysm. Subsequently, 0.1 mL of 1:2 N‐butyl cyanoacrylate glue, reconstituted with lipiodol, was slowly and precisely injected into the pseudoaneurysm under DSA guidance, with careful fluoroscopy monitoring as shown in Figure 3 . Remarkably, this approach minimized the utilization of Visipaque contrast, thereby reducing radiation exposure compared to conventional computed tomography or angiography. Post‐procedure vitals remained stable, and there were no discernible complications observed in the postoperative period. A follow‐up color Doppler ultrasound 24 h post‐procedure showed no flow in the previously problematic pseudoaneurysm, confirming the successful resolution of the RAP and validating the effectiveness of the management approach. PCNL is the preferred method for removing kidney stones but can occasionally lead to complications such as renal arteriovenous fistulas or pseudoaneurysms, which are typically asymptomatic or present with temporary symptoms. 4 RAP is a rare but recognized complication following PCNL, where an artery is partially severed or punctured, causing blood to leak into a confined hematoma. 5 This complication often involves a significant arterial branch, such as a third‐order branch of the renal artery, which may be difficult to detect during the procedure due to thrombosis or spasm. 6 Over time, dislodgement of the occluding clot can result in delayed hematuria. In this case report, we describe a patient with RAP in a solitary kidney who presented with hematuria and decreased urine output following PCNL. Delayed bleeding after significant percutaneous procedures, often from arteriovenous fistulas or arterial pseudoaneurysms, can be managed effectively with selective angioembolization. Continuous bleeding usually points to an arteriovenous fistula, while intermittent bleeding suggests an arterial pseudoaneurysm. Both conditions are treated similarly with angioembolization, which has high success rates. Hospital admission and angiography are necessary for any post‐procedure bright red urine, as angiography is diagnostic in over 90% of cases. 7 Direct ultrasound‐guided percutaneous embolization has emerged as a novel method for treating renal pseudoaneurysms. The percutaneous embolization technique involves the following steps: First, under local anesthesia and imaging guidance (typically fluoroscopy), a catheter is introduced into the vascular system, usually through the femoral artery. The catheter is then navigated to the target vessel, supplying the area of interest. Embolic agents, which can include coils, particles, or liquid embolics, are carefully introduced through the catheter to occlude the target vessel. The progress and effectiveness of the embolization are monitored in real‐time using angiographic imaging. Once the desired level of occlusion is achieved, the catheter is withdrawn, and hemostasis is achieved at the entry site. This approach eliminates the need for contrast media, reduces radiation exposure hazards, and minimizes complications associated with angiographic catheterization. Notably, it also reduces the risk of surgical intervention, such as partial or total nephrectomy, which is particularly important in patients with solitary kidneys. 8 Numerous studies and case reports have investigated the utility of ultrasound‐guided embolization for treating RAP in solitary kidneys post‐PCNL. 9 , 10 , 11 For instance, Shah et al . documented a successful coil embolization case in a young female with RAP after PCNL. 1 Additionally, various studies have examined different aspects of ultrasound‐guided techniques in PCNL procedures. Usawachintachit and Tzou emphasized the benefits of ultrasound guidance, such as real‐time imaging and reduced radiation exposure, during renal access and tract dilation in PCNL. 3 These cases collectively demonstrate the effectiveness of ultrasound‐guided embolization for RAP in solitary kidneys. While percutaneous embolization presents several advantages, including minimally invasive nature and precise targeting of the affected vessels, it also carries potential risks. These include non‐target embolization, post‐embolization syndrome, and complications such as infection, bleeding, or vessel injury. Despite these risks, the benefits often outweigh the disadvantages, particularly in cases where surgical options pose higher risks. Moreover, the research suggests that ultrasound‐guided PCNL is a safe and feasible procedure with a low complication rate in patients with solitary kidneys. Long‐term follow‐up data revealed that over 90% of these patients experienced either improvement or stabilization of renal function after undergoing ultrasound‐guided PCNL. 12 Diagnosis and management of RAP in patients with solitary kidneys pose significant challenges. Percutaneous ultrasound‐guided embolization should be considered, especially for patients with solitary kidneys and post‐PCNL hematuria. We report a case where a patient with a solitary kidney and severe hematuria required multiple blood transfusions. Due to renal insufficiency, pre‐operative CT angiography was not feasible, making ultrasound the only available guidance method. The procedure initially failed due to renal vessel spasms during selective catheterization but was ultimately managed with a minimally invasive super‐selective embolization technique. Percutaneous embolization is particularly advantageous in scenarios involving a single kidney due to the critical need to preserve renal function. However, it is also effective in a wide range of cases, providing a valuable treatment option for patients with vascular abnormalities in various organs. The case was successfully managed with ultrasoun‐ and fluoroscopic‐guided direct injection of cyanoacrylate glue into the pseudoaneurysm. Herein, we also discuss the unanticipated events during the embolization of the pseudoaneurysm in the solitary kidney and its management. In conclusion, our case report demonstrates the effective management of a RAP in a solitary kidney using ultrasound‐guided embolization. This non‐surgical approach successfully controlled bleeding and preserved renal function, highlighting the value of angioembolization in high‐risk patients. Ultrasound guidance proved to be a safe and precise method, minimizing complications and optimizing outcomes. Further research is needed to confirm the efficacy and safety of this technique in similar cases. Sana Augustine: Writing – original draft. Mitwa Patel: Writing – original draft. Pugazhendi Inban: Data curation; formal analysis. Sk Sadia Rahman Synthia: Supervision; validation. Ummul Z. Asfeen: Investigation; methodology. Aliza Yaqub: Methodology; visualization. Aadil Mahmood Khan: Writing – review and editing. Mansi Singh: Writing – review and editing. The authors declare no conflict of interest. Not applicable. Written informed consent was obtained from the for publication of this case report and any accompanying images. A copy of the written consent is available for review by the editor in chief of this journal. Not applicable. | Clinical case | biomedical | en | 0.999998 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11694313 | Erosive pustular dermatosis of the scalp (EPDS) is an under-recognized inflammatory condition that presents with localized areas of pustules or crusts overlying eroded plaques or nodules and subsequent scarring alopecia. 1 EPDS is a diagnosis of exclusion; the presentation can often be mistaken for cutaneous malignancy and clinical correlation is critical as histopathology is non-specific. 2 On histology, characteristic findings include atrophic epidermis and a mixed dermal inflammatory infiltrate of lymphocytes, neutrophils and occasional foreign body giant cells. 3 The mainstay treatments are corticosteroids, antibiotics, calcineurin inhibitors, nonsteroidal anti-inflammatory drugs, retinoids and photodynamic therapy. 4 Herein, we report a patient with erosive pustular dermatosis, who has demonstrated resistance to several mainstay treatments typically used to treat EPDS. A 72-year-old male with a history of basal cell carcinoma (BCC), actinic keratoses (AK) and seborrheic keratoses presented to the clinic with persistent crusts and a new erosion with eschar on the left temporal region, with no oozing or discharge. The initial biopsy revealed a foreign body reaction. In addition to counselling on continuing topical mometasone furoate cream, he was started on Doxycycline 100 mg. Concurrently, he was treated for underlying AK with cryotherapy. After 3 months, antibiotics were discontinued because of minimal relief and the formation of new erosions and crusts. At his request, he was started on Colchicine but noticed no improvement in left temple erosions with eschar. Six months later, he was started on a 6-month course of oral isotretinoin; during this time, small erosions started drying up and healing underneath the overlying haemorrhagic crust. With no significant improvements, isotretinoin was discontinued, and the patient was started on topical Calcipotriene ointment in conjunction with Dapsone gel. Three months later, gradual improvement was noted as old crusts healed and filled in. Debridement of eschar was offered at several follow-up appointments but promptly refused. In October 2022, 18 months after his initial presentation, there were new lesions on the vertex scalp and on the right temple. At this time, he was started on prednisone and protopic ointment; these have been used as treatment modalities for EPDS in previous case reports. 5 After improvement, the patient returned to a higher dose of isotretinoin (40 mg) and continued with topical Dapsone 5% gel. Once he reached a plateau, there was a second biopsy done which revealed a BCC. After the BCC was excised, he developed some other areas of eschar that settled with topical Dapsone. Recently, he developed some new areas on the vertex scalp and right temple. Primarily, EPDS affects older men who have accumulated sun damage on a bald scalp; however, females are also impacted by this condition. 6 EPDS is an uncommon condition and usually an overlooked disease. Firstly, the diagnosis is often missed; there is a higher incidence of other cutaneous diseases affecting the same area, such as actinic keratosis, BCC and squamous cell carcinoma. 3 Secondly, there are non-specific clinical, dermoscopic and histopathologic findings. Clinically, EPDS features are consistent with chronic pustules, erosions and crust. 3 On dermoscopy, there is an absence of follicular ostia, dilated vessels and perifollicular serous crusts. The histopathology is non-specific, including atrophic epidermis and chronic inflammation consisting of lymphocytes, neutrophils and occasional foreign body giant cells. 7 The goals of therapy are to reduce inflammation, heal erosions and prevent the progression of scarring alopecia to minimize permanent hair loss. 1 The first line of management is topical corticosteroids and immunomodulating topical therapy. 6 For steroid-sparing agents, topical calcineurin inhibitors, topical calcipotriol and retinoids have been used. Other therapeutic agents that have achieved complete resolution include photodynamic therapy, topical antibiotics such as Dapsone, topical tacrolimus, laser and wound dressings. 8 EPDS can be a chronic recurring disease and the therapy can range from weeks to months. In case of refractory disease progression, combination therapy is common, usually in conjunction with a topical corticosteroid. 4 With refractory EPDS, there may be benefit in trialling topical calcipotriol, short courses of systemic steroids, Doxycycline, isotretinoin, acitretin or Dapsone. 1 In our male patient, most of these therapies were tested before therapeutic relief was achieved. In Australia, extensive management guidelines have been established that consider factors such as skin atrophy, response rate to topical corticosteroids, recurrence and refractory disease. 7 In cases of no response to therapy, a biopsy should be considered. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11695289 | Pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary artery pressure and vascular resistance, leading to right heart failure and increased systemic venous pressure ( 1 ). This elevated pressure can extend to the cavernous sinus and ophthalmic veins, resulting in ocular complications such as central retinal vein occlusion (CRVO). Cilioretinal artery occlusion (CilRAO) is particularly intriguing pathophysiologically because it receives blood supply from the choroidal circulation rather than the retinal circulation ( 2 ). The combination of CilRAO and CRVO presents a unique clinical scenario that warrants thorough examination and discussion. This case report presents a novel instance of PAH-related CRVO leading to CilRAO, underscoring the intricate relationship between systemic cardiovascular conditions and ocular health. A 13-year-old girl was referred to our hospital in April 2023 with sudden, painless vision loss and a central visual field defect in her left eye persisting for 3 weeks. Her medical history included a surgically repaired ventricular septal defect (VSD) at age eight. She reported no significant personal or family medical history, and no prior use of medication. Two weeks prior, an evaluation at a local hospital recorded a best-corrected visual acuity (BCVA) of 20/20 in the right eye and 20/50 in the left eye, with normal intraocular pressures (IOP) bilaterally. Fundus photography revealed pale gray-white retinal swelling above the fovea along the superior papillomacular bundle, flame-shaped hemorrhages, and blurred optic disc margins in the left eye, accompanied by significant retinal vein dilation and tortuosity . The right eye showed mild disc edema but was otherwise normal. Fluorescein angiography (FFA) locally showed several notable findings: delayed background fluorescence, delayed perfusion of the cilioretinal artery , hypofluorescence extending from the fovea to the superior vascular arcade in the posterior pole, as well as dilation and tortuosity of the veins with delayed venous filling . The right eye showed no evidence of stasis or fluorescein leakage on the optic disc, consistent with pseudopapilledema . Upon admission, her BCVA was 20/50 in the left eye and 20/20 in the right. The ocular adnexa, anterior segment, and IOP were normal, as were pupillary light reflexes. Compared to prior evaluations at the local hospital, fundoscopic examination showed a reduction in the gray-white retinal edema above the fovea in the left eye, with no significant changes otherwise. FFA showed prolonged choroidal perfusion, delayed cilioretinal artery filling, scattered fluorescence blockage, widespread capillary dilation, and optic disc stasis in the late angiographic phase . The static visual field test recorded a sectoral scotoma adjacent to the fovea in the left eye . Spectral-domain optical coherence tomography (SD-OCT) revealed disorganization of the inner macular layers, corresponding to hyporeflective areas on near-infrared (NIR) imaging, with interspersed hyperreflective foci . Optic disc edema was confirmed with increased disc thickness and elevation . Based on the patient’s symptoms, clinical signs, and comprehensive ophthalmological examination, she was diagnosed with CilRAO combined with CRVO in the left eye. Laboratory tests revealed mild anemia (hemoglobin: 92 g/L) and a slight elevation in platelet count (385 × 10^9/L). Other tests, including random blood sugar, serum C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), renal function, coagulation profile, antiphospholipid antibodies, homocysteine levels, lipid profile, and D-dimer, were all within normal ranges. The etiology of CilRAO and CRVO was unclear based on initial findings. Given her VSD history, further investigations were recommended. Despite initial hesitation, the patient, who denied any symptoms beyond ocular complaints and requested immediate ophthalmic treatment, eventually agreed after counseling. Cardiothoracic consultation revealed mild enlargement of the right ventricle and right atrium on echocardiography. The atrial septum appeared intact, with an echogenic patch on the ventricular septum, confirming no shunt signal. Mild dilation of the pulmonary artery and a regurgitant jet in the right ventricular outflow tract were also noted. Tricuspid regurgitation was widely distributed within the right atrium during systole, with a continuous wave (CW) Doppler measurement estimating the pulmonary artery systolic pressure (PASP) at 80 mmHg. Duplex ultrasound of the carotid arteries showed smooth intimal surfaces bilaterally. A Transcranial Doppler (TCD) foaming test detected three emboli in the middle cerebral artery during a Valsalva maneuver, suggesting a potential right-to-left shunt. Head computed tomography (CT) and computed tomography angiography (CTA) of the cerebral and aortic arteries revealed no significant abnormalities. The patient was diagnosed with severe pulmonary arterial hypertension (PAH) during a cardiothoracic consultation and was prescribed Bosentan at a dose of 31.25 mg twice daily. She also received traditional Chinese herbal treatment to enhance ocular circulation. The decoction included Prunus persica (peach kernel), Carthamus tinctorius (safflower), Rehmannia glutinosa (raw Rehmannia root), Angelica sinensis (Dong Quai), Paeonia lactiflora (red peony root), Ligusticum chuanqiong (Szechuan lovage), and Achyranthes bidentata (ox knee), which are traditionally used to promote blood circulation and alleviate stasis. After 1 week of treatment, she requested discharge. At the one-month follow-up, the patient’s BCVA in the left eye improved to 20/32. Fundus photography showed reduced optic disc edema, venous tortuosity, and intraretinal hemorrhages. OCT revealed asymmetric thinning of the inner retinal layers in the macular region affected by CilRAO, along with substantial improvement in optic disc edema. Echocardiography showed a decrease in PASP to 65 mmHg. The cardiothoracic surgeon advised continuing oral Bosentan therapy. At 9 months, the patient’s left eye BCVA improved to 20/20. Fundoscopic examination revealed near-normal conditions . However, visual field testing detected a persistent sectoral scotoma adjacent to the macular fovea . OCT showed significant thinning of the inner retinal layers extending temporally and superiorly to the macular fovea , along with complete resolution of optic disc edema. Echocardiography indicated a PASP of 52 mmHg. Liver and kidney function tests were normal, and the patient continued oral Bosentan therapy. At the most recent follow-up, the patient’s left eye BCVA remained at 20/20, with no symptoms other than a paracentral scotoma. Her PASP remained stable at 45 mmHg with ongoing Bosentan treatment. Cilioretinal arteries are congenital vascular variants found in approximately one-third of normal eyes, originating from the peripapillary choroid or short posterior ciliary arteries. Their presence can be identified through clinical examination and FFA in about 20–32% of individuals ( 3 ). Unlike the central retinal artery, cilioretinal arteries lack autoregulatory mechanisms, making them more susceptible to hemodynamic changes and ischemic events ( 4 ). CilRAO is uncommon, comprising approximately 5% of all retinal artery occlusions. It can be categorized into three primary etiological groups: isolated CilRAO, CilRAO associated with CRVO, and CilRAO attributed to systemic autoimmune conditions such as giant cell arteritis ( 5–7 ). In this case, FFA revealed CRVO with delayed and sluggish flow in the cilioretinal artery rather than complete non-perfusion. Additionally, delayed background fluorescence suggested that the CilRAO was caused by hemodynamic disturbances—a high-resistance type of CilRAO associated with CRVO. The increased intraluminal pressure from CRVO likely led to secondary functional blockage of the cilioretinal artery due to its inability to autoregulate under elevated pressure conditions. The resulting hypoperfusion causes ischemia, particularly in the retinal tissue supplied by the cilioretinal artery. This pathophysiological mechanism aligns with literature suggesting that CRVO-induced elevated capillary pressure may lead to secondary arterial occlusions such as CilRAO ( 2 , 4 , 5 , 7 , 8 ). PAH is defined as a persistent pulmonary artery pressure exceeding 25 mmHg at rest or 30 mmHg during exercise ( 1 ). The pulmonary arterial (PA) tree, with its fractal branching structure, is designed to evenly distribute blood flow to the alveoli ( 1 ). However, conditions such as ventricular septal defect (VSD) that increase pulmonary blood flow can trigger neointimal remodeling, involving intimal hyperplasia, elastic lamina degradation, pericyte infiltration into the intima, and encroachment of smooth muscle cells into the lumen. This remodeling is driven by an imbalance between cell proliferation and apoptosis, upregulation of anti-apoptotic signaling, and persistent inflammation, ultimately causing thickening and fibrosis of the pulmonary artery walls, reduced luminal diameter, and increased vascular resistance ( 9–11 ). While surgical repair of VSD may immediately correct abnormal blood flow, the pre-existing vascular remodeling often persists due to prior exposure to prolonged shear stress and turbulent flow, maintaining elevated pulmonary artery pressures and contributing to ongoing PAH ( 10 , 11 ). The timing of VSD repair is crucial, as delays can result in irreversible vascular remodeling and permanent pulmonary hypertension ( 1 , 12 ). As to this case, late surgical correction likely contributed to significant vascular changes and sustained pulmonary hypertension, despite structural defect resolution ( 13 ). PAH can elevate pressure in the superior vena cava, internal jugular vein, cavernous sinus, and ultimately the ophthalmic veins. The elevated pulmonary artery pressure leads to retrograde pressure affecting the right ventricle, right atrium, superior vena cava, and cavernous sinus, disrupting venous outflow from the eye and resulting in CRVO ( 14 ). In this patient, echocardiography revealed signs of severe PAH, including right ventricular and atrial enlargement, tricuspid regurgitation, and elevated pulmonary artery pressures, confirming the systemic contribution to the observed CRVO. The management of this case emphasizes the importance of treating the primary disease, PAH, to alleviate its secondary ocular complications. Bosentan, an endothelin receptor antagonist, plays a pivotal role in lowering pulmonary artery pressure by blocking endothelin-1 (ET-1) receptors on vascular smooth muscle cells, leading to vasodilation and decreased vascular resistance. This reduction in pulmonary artery pressure decreases the retrograde venous pressure transmitted to the ophthalmic veins, thereby alleviating CRVO. By improving pulmonary hemodynamics, Bosentan reduces the venous congestion in the retinal circulation, facilitating the restoration of normal venous outflow. Furthermore, the normalization of retinal venous pressure helps reverse the hemodynamic imbalance causing the CilRAO. Since the CilRAO in this case is hemodynamically induced rather than due to an embolic event, lowering the venous pressure allows for improved perfusion in the cilioretinal artery territory. Although the patient’s central vision may improve with the resolution of CRVO and the reversal of CilRAO, ischemic damage caused by the initial hypoperfusion may leave lasting effects, such as paracentral scotomas. For elderly patients with combined CilRAO and CRVO, atherosclerosis, thrombophilia, vasculitis, and autoimmune conditions should be assessed. In younger patients, rarer etiologies, including elevated homocysteine levels, syphilis, patent foramen ovale, and HELLP syndrome, must be considered ( 4 ). In this case, detailed patient history revealed a past VSD repair, underscoring the need to thoroughly investigate medical history in such instances. This case represents the first reported instance of CRVO combined with CilRAO and PAMM as initial manifestations of PAH. It underscores the interplay between systemic vascular diseases and ocular health and emphasizes the importance of addressing systemic causes to achieve favorable ophthalmic outcomes. The case we presented here underscores the intricate relationship between systemic cardiovascular conditions and ocular health, highlighting the first reported instance of CRVO combined with CilRAO secondary to PAH. Managing such cases emphasizes the importance of addressing the primary disease, PAH, to alleviate secondary ocular complications and prevent severe systemic issues. Bosentan, an endothelin receptor antagonist, played a pivotal role in lowering pulmonary artery pressure, reducing venous pressure, and alleviating CRVO. This approach addresses the root cause of increased retinal venous pressure, providing a comprehensive treatment strategy. Early intervention and holistic treatment are crucial in preventing permanent vision damage and serious systemic complications. This case highlights the need for clinicians to remain vigilant about systemic conditions that can impact ocular health and to adopt a multidisciplinary approach in managing complex cases. | Clinical case | biomedical | en | 0.999997 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696180 | Disseminated herpes simplex virus (HSV) infection is a rare but potentially life-threatening condition, especially in immunocompromised individuals, and is associated with high mortality . HSV remains dormant in neural ganglion cells and is reactivated during immunosuppression. Typically, it causes upper respiratory tract infection but occasionally can lead to severe illness needing intensive care unit (ICU) admission. HSV may be isolated in respiratory specimens of many critically ill patients especially those who have been on mechanical ventilation greater than five days. It is difficult to differentiate whether the detection of HSV represents asymptomatic shedding or a true infection responsible for pneumonia . HSV pneumonitis should be suspected in patients with acute respiratory distress syndrome (ARDS) with negative bronchoalveolar bacterial cultures and a negative respiratory viral panel. Here, we present a case of HSV pneumonitis presenting as ARDS and septic shock with a history of transient neutropenia secondary to chemotherapy. Bronchoalveolar lavage (BAL) and blood were positive for HSV PCR. Acyclovir was started with a good clinical response. An elderly female patient, aged 72, was admitted to ICU for management of acute hypoxic respiratory failure. Her medical history included hypertension, gastro-esophageal reflux disease, chronic kidney disease stage IIIa (eGFR of 50 mL/min and baseline creatinine of 1.5 mg/dL), and a former tobacco use disorder (cigarette smoking, 30 pack years, quit eight years ago). Additionally, she had recently (three months ago) been diagnosed with stage III rectal adenocarcinoma and was undergoing chemotherapy with the FOLFOX (Folinic acid, Fluorouracil, Oxaliplatin) regimen. Four days after completing the sixth cycle of chemotherapy, the patient presented to a suburban facility with symptoms of fever, malaise, loss of appetite, abdominal pain, and diarrhea and was subsequently admitted for neutropenic sepsis. Broad-spectrum antibiotics were immediately initiated; however, blood and urine cultures yielded negative results. Due to the progressive worsening of her respiratory status, she required intubation and was subsequently transferred to our facility for further care. Upon arrival, the patient's vital signs revealed a temperature of 101°F, a pulse of 110, a blood pressure of 80/60, and a saturation of 91% with 100% FiO 2 . The physical examination was notable for diffuse crepitations in bilateral lung fields. The initial chest radiographs were consistent with bilateral diffuse consolidation consistent with ARDS. Immediate resuscitation measures were taken, including the placement of a central line and an arterial line. Intravenous fluid resuscitation was done with normal saline at 20 mL/kg. Vasopressors including nor-epinephrine and vasopressin at 0.03 units/hr were initiated. Nor-epinephrine infusion was titrated to a mean arterial pressure (MAP) goal greater than 65 mmHG, requiring 0.3 to 0.4 mcg/kg/min. Initial ABG revealed a pH of 7.19 and PaCO 2 of 38. The bedside echocardiogram indicated a grossly normal ejection fraction of 60-65% and an absence of preload responsiveness by the absence of a significant increase of velocity-time integral with passive leg raise. See Table 1 for laboratory workup. The patient was found to be profoundly acidotic and exhibited acute kidney injury, leading to the immediate initiation of continuous renal replacement therapy (CRRT). Mechanical ventilation was managed using low tidal volume ventilation at 6 mL/kg predicted body weight (PBW) and positive end-expiratory pressure (PEEP) titration based on driving pressure. With a PEEP of 12 cmH 2 O, the FiO 2 could be reduced to 60% with a PF ratio of 170, thus making prone positioning unnecessary. As the initial respiratory viral panel was negative, a bronchoscopy was done to obtain bronchoalveolar samples. A subsequent bedside bronchoscopy revealed multiple 2-5 mm erosions with erythematous bases diffusely in the tracheobronchial tree indicative of herpetic tracheobronchitis . A CT chest scan was then performed to determine the extent of consolidation, which revealed diffuse bilateral consolidations and an interstitial pattern . There was evidence of bilateral pleural effusions, consolidation , and traction bronchiectasis . Mild motion artifacts can be appreciated on all images. However, the respiratory viral panel yielded negative results. Ventilator settings were extremely high, precluding a lung biopsy, which was, therefore, not performed. Empirical acyclovir therapy was initiated at a dose of 7.5 mg/kg (after adjusting for CRRT with eGFR of 22 mL/min) due to a high clinical suspicion of herpes pneumonitis. BAL cytology revealed no tumor cells, with a cell differential of 95% neutrophils, 5% lymphocytes, 0% macrophages, and 0% eosinophils. Additionally, a monolayer preparation and cell block preparation revealed scattered benign and degenerative-appearing squamous and bronchial epithelial cells amid an abundance of acute inflammatory cells. Some of these cells exhibited glassy nuclear inclusions, occasional red granular inclusions, and focal multi-nucleation. The affected cells appeared to be squamous epithelial cells, suggesting a viral cytotoxic effect. While these features were suspicious for a possible HSV infection, other viral causes, including cytomegalovirus (CMV), could not be entirely excluded based on cytologic features alone. Immunohistochemical testing for CMV using an analyte-specific reagent antibody (a cocktail of two mouse monoclonal antibodies, DDG9 and CCH2, diluted 1-200) and heat-induced epitope retrieval (bond ER solution 2 for 20 minutes) with a polymer detection system yielded negative results, with an appropriate control (Leica Microsystems Bond Instrument). Further investigations for immunosuppression, including HIV and immunoglobulin deficiency, were negative, except for a brief episode of neutropenia on the day of presentation, which responded well to filgrastim administered at the outside facility. HIV testing was negative. Subsequently, HSV-1 PCR testing returned positive in both BAL and blood samples, with results available on day 2 of ICU admission. A CT scan of the head and fundoscopy revealed no lesions suggestive of herpes infection. Infectious diseases were consulted, and it was recommended to continue the same antiviral therapy for disseminated herpes infection. The patient remained on vasopressors (norepinephrine and vasopressin) for four days to target a MAP of 70 mm of Hg. The course was further complicated by new-onset atrial fibrillation on day 4 of admission, necessitating amiodarone infusion for three days. Beta-blockers and calcium channel blockers were not administered due to the patient's septic shock. Anticoagulation was deemed inappropriate due to diffuse oozing in the tracheobronchial tree. CRRT was successfully terminated on day 4, with the patient experiencing good renal recovery as defined by urine output >500 mL/day. Mechanical ventilation was continued for a total of seven days, after which the patient was successfully extubated and transitioned to a high-flow nasal cannula (30 L/min of flow and 40% FiO 2 ) following a two-hour spontaneous breathing trial. Acyclovir therapy was administered for a total of 14 days, and subsequent HSV PCR testing in the blood sample yielded negative results. The patient was also found to have critical illness neuromyopathy. Ultimately, the patient was discharged to a short-term rehab facility on the 12th day after admission. At the time of discharge, she required 2 L/min of supplemental oxygen. Further discussion with the patient revealed a history of episodes of herpetic labialis (cold sores) in the past, with the most recent occurrence being one week prior to admission. The patient was followed up in the post-ICU clinic for one month and is clinically doing well. This case highlights the challenges in diagnosing and managing disseminated (blood-stream infection) HSV infection in immunocompromised patients. The initial presentation with neutropenic sepsis and acute respiratory failure, coupled with negative blood and urine cultures, posed a diagnostic dilemma. However, bronchoscopy and subsequent testing confirmed herpetic tracheobronchitis and pneumonitis. The prompt initiation of antiviral therapy, along with supportive care, resulted in a favorable outcome. HSV infection most commonly involves the upper respiratory tract, causing herpes labialis (cold sores) or gingivostomatitis and pharyngitis. This is usually due to reactivation during periods of stress, trauma, and fever. Until then, it remains dormant in neural ganglion cells. However, in immunosuppressed individuals (especially cell-mediated immunity), reactivation may result in life-threatening infections . For this reason, most transplant recipients frequently receive prophylaxis with acyclovir. Our patient received chemotherapy for cancer-causing transient neutropenia, which must have caused the reactivation of the dormant herpes virus. The pathogenesis of HSV pneumonia is thought to occur from aspiration of salivary secretions and, during the transit, can result in pharyngo-tracheobronchitis . On further questioning, our patient had a history of herpes labialis occurring one week prior to the hospital admission. Bronchoscopy performed during the ICU admission clearly demonstrated multiple 2-5 mm erosions suggestive of herpetic tracheobronchitis. Herpes simplex pneumonia presents with prodromal symptoms such as fever, myalgias, and GI symptoms. Our patient presented initially with complaints of abdominal pain and diarrhea and, with evidence of neutropenia, was empirically initially treated for neutropenic enterocolitis and received broad-spectrum antibiotics. This was followed by progressive respiratory failure, likely representing herpes pneumonitis. Blood cultures and CT abdomen pelvis were negative. Disseminated herpetic infection should be strongly in patients with neutropenia who do not respond to broad-spectrum antibiotics. In our case, HSV pneumonitis resulted in severe ARDS needing mechanical ventilation. HSV is also frequently isolated in respiratory specimens of critically ill patients (5-64%), especially with prolonged intubation of >5 days . In many circumstances, this represents a carrier state (referred to as innocent bystander due to asymptomatic shedding) rather than pneumonia. If HSV is the cause of pneumonia rather than being a carrier state, the prognosis is guarded . Unwarranted therapy carries the risk of organ failure due to the drug's narrow therapeutic index, more so in critically ill patients who are on organ support . Therefore, whether to treat a positive HSV sample or not is challenging, especially in critically ill patients. Of note, the traditional respiratory viral panel does not include HSV, and hence, a negative nasopharyngeal swab should not deter from suspecting herpes pneumonia. Serology is rarely useful as it cannot distinguish past from current infection. A bronchoscope is recommended not only to obtain bronchial washings or BAL, which represent true lower respiratory samples, but also the presence of tracheobronchitis like in our case supports early suspicion and almost always warrants acyclovir therapy . HSV PCR should be obtained on blood samples in all cases of HSV pneumonia, as frequently disseminated HSV infection either as a cause or a consequence can be seen. For the same reason, imaging of the head and fundoscopy can establish the degree of dissemination. This is important as the duration of therapy may be different . Our patient also had a positive HSV PCR on a blood sample representing disseminated herpes infection. Although viral cultures were traditionally considered as gold standard, PCR has become the test of choice due to its 100% sensitivity . Like in our case, cytopathological changes seen on BAL almost always warrant therapy. Lung biopsy, if positive can confirm HSV pneumonia, but a negative result does not exclude. In critically ill patients, lung biopsy can be hazardous due to high ventilator settings . Acyclovir therapy should be considered in all cases of positive blood samples or positive respiratory samples along with cytopathological changes on BAL or high viral load or if there is no other cause identified as the cause of respiratory failure . In our case, cytopathological changes were not only seen on the BAL sample, but HSV was positive on the blood sample. Without therapy, the mortality rates can be as high as 30-60% . There is no evidence to suggest the recommended dose and duration of acyclovir specifically for HSV pneumonitis. Most intensivists employ a dose recommended for HSV encephalitis of 10 mg/kg IV every eight hours. However, the drug is really cleared due to its low protein binding capacity and high water solubility. Hence, the dose must be adjusted if the patient is on renal replacement therapy. We have employed a dose of 7.5 mg/kg in our patient as she was on CRRT . Steroids should be considered in severe ARDS to prevent fibrosis or to treat complications such as organizing pneumonia . However, steroid administration in mild pneumonia can result in fatal hepatitis and dissemination. We have not considered steroid therapy for the risk of dissemination. Older age, smoking history, and prolonged intubation are associated with worse outcomes, even in immune-competent critically ill patients . Rather, some studies have shown that a positive HSV sample is a marker of severity regardless of immunocompetence . Mortality of HSV pneumonia is reported at around 60% . Our case has a positive outcome, likely due to earlier initiation of antiviral therapy due to the presence of herpetic erosions on the tracheobronchial tree. The case described above had multiple circular erosions with an erythematous base in the tracheobronchial tree on bronchoscopy suggestive of tracheobronchitis. In addition, she was intubated for respiratory failure resulting from ARDS caused by HSV. A history of herpes labialis and herpetic tracheobronchitis a week prior, along with CT chest evidence of viral pneumonitis, is consistent with aspiration of salivary secretions as the cause of respiratory failure. Transient neutropenia would have been the risk factor or dissemination including the isolation of HSV-1 in the blood. In patients with neutropenia, even if transient, HSV pneumonitis should be considered in those presenting with ARDS and septic shock, especially if other diagnostic workups remain negative. It is important to note that a respiratory viral panel does not routinely include HSV testing; therefore, a virus-specific PCR test must be requested. Multiple circular erosions on bronchoscopy are almost always indicative of either HSV or CMV, and early initiation of antiviral therapy can reduce mortality. | Clinical case | clinical | en | 0.999993 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11696278 | Enterogenous cysts (ECs) are rare, benign, congenital ectopic endodermal cysts that are lined by gastrointestinal or respiratory mucin-secreting epithelium. ECs typically occur in the mediastinum and abdomen, and are infrequently found in the central nervous system (CNS) ( 1 ). In the CNS, ECs are usually located extramedullary in the spinal cord and rarely located intracranially, which are commonly found in the cerebellopontine cistern, pre-pontine cistern, or ventriculus quartus cerebri ( 2 ). ECs occur more often in male adolescents, with a male-to-female ratio of 3:1 to 2:1 ( 2 ). Here, we reported an extremely rare case of EC that was located in the brainstem of a 17-year-old male adolescent. Before that, only seven reports have described brainstem ECs in pediatric patients (0–18 years) ( Table 1 ). Among those cases, only four patients had achieved tumor total resection, and our case has the largest brainstem EC that had been completely resected. A 17-year-old male patient presented in our outpatient with 6 months of dizziness and 12 months of right limb weakness, which was aggravated and resulted in the inability to flex the right lower limb and unsteady walking for 1 month. The patient, without any family history or medical history, was diagnosed by the local hospital as having a brainstem tumor and was transferred to our hospital. The physical and neurological examinations showed that the muscle strength of his limbs was class V on the left side, class IV in the extensors, and class II in the flexors on the right side. Apart from these, no other positive signs were detected in the examinations. Head computed tomography (CT) scanning showed a cauliflower-like hyperdense lesion located in the brainstem . On magnetic resonance imaging (MRI), the lesion was extracerebral and located in the ventral side of the brainstem, compressing the brainstem evidently. The lesion was mostly hyperintense on T1- and T2-weighted scanning, with prominent gadolinium enhancement . Moreover, there was a small nodule in the right part of the lesion that showed a low signal on T1, T2, and enhanced scanning, suggesting a calcification within the lesion. The lesion measured approximately 47 × 38 × 36 mm in size, which severely compressed the brainstem, causing it nearly to be a straight line with only 3 mm at the narrowest point . Based on the above clinical evidence, the patient was preoperatively diagnosed as having an epidermoid cyst. Because of the evident clinical symptoms and prominent mass effect on the brainstem, we decided to operate on this patient. The patient was positioned laterally and surgery was performed using a far lateral approach, craniotomy with an extension from the occipital midline through the foramen magnum to the left condyle of occipital bone, ending in the star point covering the transverse sinus. After partially removing the occipital condyles, incising the posterior arch of the atlanto-axial, and cutting the endocranium, we explored the left ventral side of the cerebellum using a microscope. The lesion was exposed in the ventral part of the pons, which was embedded in the pons and severely compressed, displaced, and deformed it. The mass was cystic, with an intact outer envelope, and a thick yellowish cystic liquid content. Fortunately, the cyst wall did not adhere tightly to the brainstem. Therefore, after aspirating the cyst fluid, we carefully stripped the cyst wall from the brainstem and removed the cyst completely. Microscopically, the cyst wall was covered with pseudo-stratified epithelium with abundant foam cells around. Under the epithelium is fibrous tissue, with collagen, as well as little capillaries between tissues . In the cyst fluid, there were a large number of erythrocytes and a small number of leukocytes. Postoperatively, CT and MRI showed that the cyst was completely removed . After the postoperative treatment including lumbar puncture, postoperative limb function exercise, and neurotrophic drug administration, the patient’s symptoms have partially improved with a muscle strength of class IV in the flexors on the right side, compared with that of class II before the surgery. The patient and his parents were very satisfied with the treatment. There was no tumor progression over the next 6 months of follow-up, nor were there any recurrences. When he came back 6 months later, his symptoms have totally improved with a muscle strength of class V on the limbs. ECs are defined as benign cystic lesions lined by gastrointestinal or respiratory mucin-secreting epithelium, which were first found by Puussepp in 1934, but were officially named enterogenous cysts in 1958 by Harriman ( 10 , 11 ). The pathogenesis of ECs is still controversial, which most researchers believed should be ascribed to the mutation or hypoplasia of the ectoblast and entoderm during the third embryonic week ( 2 ). From the beginning of the third embryonic week, the ectoblast, gradually developing with neural tubes, and the entoderm, differentiating into the intestinal tube, will divide from the ectoblast along with the embryonic development. In the case of impaired, vestigial, or ectopic embryo development, EC will form, which is usually combined with gastrointestinal, spinal, or medullispinal malformations ( 2 ). ECs can occur at any age, with more prevalence in male patients ( 2 , 12 ). However, ECs of male patients are more likely to be found in the spine, and those of female patients are more likely to be found intracranially ( 12 ). ECs of CNS mostly occur in the spinal canal (more than 80%), accounting for 0.3% to 0.5% of the intraspinal tumor, with a higher prevalence in the cervical and upper thoracic segments, which preferably occur in the ventral part of the subdural spinal cord ( 12 ). In our case, the patient was a male adolescent, who was found to have an EC in a very rare location of the brainstem without any other intracranial malformations. Until now, there have been only seven cases of brainstem ECs reported in pediatric patients. Among these cases, only four had achieved total tumor resection, and the tumor in our case is the largest in size among the completely resected tumors. The clinical manifestations of ECs are closely related to the pathogenic site, with long-term recurrent headache being the first symptom in most cases. Later on, along with cyst enlargement, the mass effects gradually appear, causing epilepsy, intracranial hypertension, and dysneuria. Even more, aseptic meningitis may occur in case of a fistula formation. The diagnosis of intracranial ECs relies mainly on imaging and pathology. Because of the slow growth of cysts, low incidence, variable clinical symptoms, and atypical imaging manifestations, it is difficult to distinguish them from other intracranial mass lesions, which leads to a difficult preoperative diagnosis. CT scanning can only manifest the location of the lesion and the feature of cystic changes. MRI scanning can distinctly show the shape of the lesion and its relationship to the surrounding brain tissue. On MRI scanning, most ECs of CNS have thin, uniform walls, and smooth margins, with little edema in the surrounding brain tissue. On T1- and T2-weighted scanning, the cyst usually displays a signal equal to or slightly higher than that of the cerebrospinal fluid (CSF), with no enhancement or slight enhancement in case of fibrillation of partial cyst wall on enhanced scanning ( 10 , 13 ). In our case, the lesion displayed marked hyperintensity on both T1- and T2-weighed scanning with prominent gadolinium enhancement, which is not in accordance with the reported cases. This nonconformity of signals in MRI may be attributed to the high protein content in cystic fluid. Histologically, ECs can be classified into three groups based on the histological origin of cyst epithelium. Group I: The cyst walls are lined by a monolayer, pseudocompound cubic or columnar epithelium, with or without fiber hairs. Group II: The cysts, in addition to the above structure, may be composed of mucous glands, plasma glands, and ganglia. Group III: The cysts, in addition to the findings in group II, may be composed of ventricular membrane and neuroglial components ( 14 ). In immunohistochemical staining, EC cells show positive expression of epithelial membrane antigen and carcinoembryonic antigen, with negative expression of glial fibrillary acidic protein (GFAP) ( 15 ). As a congenital disease, ECs should be distinguished from intracranial dermoid cysts, epidermoid cysts, and arachnoid cysts. Dermoid cysts are usually seen in adults (at least 40 years old), with the sellar region or cranial fossa being the common location ( 16 ). On account of their fatty component, dermoid cysts display heterogeneous signals on MRI scanning, which often shows a slight hypointense signal or an occasionally hyperintense signal on T1-weighted scanning, and a slight hyperintense signal on T2-weighted scanning, without gadolinium enhancement. The imaging displays of epidermoid cysts are multifarious, depending on the composition and proportion of the cysts, which usually show a hypointense signal (slightly higher than the CSF signal) on T1-weighted scanning and a hyperintense signal on T2-weighted scanning ( 17 ). The arachnoid cysts display signals similar to the CSF, which are hypointense signals on T1-weighted and hyperintense signals on T2-weighted scanning. In addition, the expression of GFAP can be used for differential diagnosis from ECs and arachnoid cysts. The treatment of ECs is based on surgical resection, with the goal of complete removal of the lesion. Even if the cyst is completely removed, it may still recur, worsening the symptoms of neurological deficit and increasing the risk and difficulty of reoperation ( 18 – 20 ). Here, we present several operative experiences: (1) To avoid aseptic inflammation, tampons should be applied around the cyst during excision to prevent leakage of cystic fluid, and the operative region should also be repeatedly irrigated after the resection. (2) During the operation, we found that the cyst has severely compressed the brainstem, significantly deforming it. However, the cyst wall was not tightly adherent to the brainstem, which resulted in the complete excision of the cyst. Nevertheless, we still do not recommend total resection of brainstem ECs at the expense of damage to the surrounding tissues, especially the brainstem. With regard to the cyst being tightly adherent to the brainstem, we suggest that partial resection should be performed first, followed by electrocautery of the remaining part of the cyst wall. (3) Although ECs are considered as benign lesions, there have already been reports about cases with recurrence, dissemination, and canceration ( 18 , 19 ). Therefore, intraoperative freezing pathological examination is proposed, which plays an important role in the selection of the operative approach, the resection scope, and the prognosis of intracranial ECs. We present a complete surgical resection of a rare huge brainstem EC, in which total resection had been reported in only four cases. Intracranial ECs are congenital benign lesions, the diagnosis of which fundamentally relies on imaging and histological results. Signals of ECs on MRI are multiple, depending on the content of the cyst. Typically, the pathological characteristic of ECs is the presence of cyst walls lined by a monolayer, pseudocompound cubic or columnar epithelium, which can be further classified into three groups. Surgical resection is still the primary treatment for intracranial ECs, since radiotherapy and chemotherapy have not been proven to have a therapeutic effect. Therefore, further investigations are needed to optimize management and recurrence avoidance. | Clinical case | biomedical | en | 0.999999 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697044 | A 68-year-old man was referred to the vascular surgery department for evaluation of an EIA aneurysm incidentally found on a screening magnetic resonance imaging after an elevated prostate-specific antigen on routine screening laboratory tests. Medical history was significant for type 2 diabetes mellitus, hypertension, hyperlipidemia, and coronary artery disease without a history of myocardial infarction or preventative intervention. He presented to the office and was evaluated for symptoms; he reported none. There was no history of trauma, infectious etiology, or prior vascular access. The patient denied any history of smoking, cycling or extreme sporting, or family history of aneurysms. Blood cultures were negative, and leukocytes were within normal limits. Computed tomography angiogram of the chest, abdomen, and pelvis with runoff revealed an isolated right sided saccular 2.6-cm EIA aneurysm above the inguinal ligament, with no extension proximally or distally . There was no aneurysmal or major atherosclerotic disease in the abdominal aorta or distal arterial vessels and there were no signs of disease in the contralateral iliac arteries. Based on discussion with the vascular surgery team, the patient was given the options of endovascular vs open surgery. Using shared decision-making, an endovascular approach was chosen to treat the isolated EIA aneurysm, and the patient provided consent. Fig 1 Preoperative computed tomography angiography showing an isolated aneurysm of the suprainguinal right external iliac artery ( EIA ). ( A ) Sagittal. ( B ) Axial. ( C ) Coronal with measurement. The operation was performed with the patient under general anesthesia. An 8F short 25 cm sheath (Terumo Medical Co, Tokyo, Japan) was placed percutaneously at the left femoral artery, and the Omni Flush Soft-Vu Angiographic Catheter (Angiodynamics, Latham, NY) was advanced and positioned into the infrarenal abdominal aorta. An aortogram was captured to visualize the iliac arteries with an oblique view to visualize the right hypogastric takeoff. A widely patent bilateral iliac system was visualized, and a large 2.6-m aneurysm was identified 4 cm above the femoral bifurcation. The Omni Flush over a floppy Glidewire (Terumo Medical Corp., Somerset, NJ) was advanced across the iliac bifurcation, beyond the aneurysm sac, and further down into the right superficial femoral artery. The short 8F sheath was exchanged for an 8F 45 cm Ansel Sheath (Cook Medical, Bloomington, IN) over a J-tipped Stiff Amplatz Wire (Boston Scientific, Natick, MA), and advanced to the mid-right EIA just proximal to the aneurysm. After heparinizing the patient and measuring the native vessel for optimal graft selection, the 9 mm × 10 cm Viabahn stent graft (W. L. Gore & Associates, Flagstaff, AZ) was ultimately selected and carefully deployed in a distal to proximal fashion. The entirety of the aneurysmal sac was covered while ensuring maintaining patency of the common femoral artery distally and hypogastric artery proximally. Final angiography demonstrated widely patent right EIA and widely patent femoral bifurcation with complete exclusion of the EIA aneurysm. Given that the stent graft appeared to have an excellent seal, it was decided not to post-dilate with balloon angioplasty. Fig 2 Intraoperative angiography. ( A ) Preoperative aortogram. ( B ) Preoperative iliac angiogram. ( C ) Completion angiogram after stent graft deployment. ( D ) Reconstructed three-dimensional image of 2-week follow-up computed tomography scan showing completely excluded aneurysm with patent stent graft in suprainguinal right external iliac artery ( EIA ). The patient was discharged home on postoperative day 1 without complication on a regimen of aspirin only, indefinitely. On outpatient review at 2 weeks, the patient was well. No difference in peripheral pulse examination was found. The patient was asymptomatic preoperatively and remained symptom free at the 2-week follow-up. Postoperative computed tomography angiography demonstrated an excluded aneurysm sac with a good apposition of the stent graft with no evidence of endoleaks or stent graft-related complications . We plan to perform annual ultrasound surveillance of the stent graft. Common and internal iliac artery aneurysms have multifactorial pathogeneses that are nearly identical to that of abdominal aortic aneurysms, as seen by their histological similarities. The particular rarity of aneurysms involving the EIA can be attributed to the unique lamellar architecture and biomechanical properties of the external iliac arterial walls, particularly in the tunica media. 7 Distinct from the more proximal aortoiliac segments, external iliac arteries possess a more structured and layered lamellar architecture, as well as a higher elastin-to-collagen ratio, 8 which allows them to withstand higher hemodynamic stresses and accommodate higher pressures, thus reducing the susceptibility to wall weakening and aneurysmal dilation. Isolated iliac artery aneurysms, without any other identifiable aortoiliac or peripheral vascular disease, have been described in multiple investigations to be a rare pathology. Silver et al 9 in 1967 performed a chart review of patients with arterial aneurysms affecting the aortic or iliac artery systems and found 571 patients with abdominal aortic aneurysms and only 11 patients with isolated iliac artery aneurysms, a relative frequency of 1.9%. Later in 1983, McCready et al 10 reported the frequency of isolated iliac artery aneurysms of 0.9% and provided one of the only anatomical frequency distributions amongst isolated aneurysms of the iliac artery system: 90% of all isolated iliac artery aneurysms affect the common iliac artery solely, whereas <1% affect the EIA solely. Finally, in 1989 Brunkwall et al 5 performed the largest investigation on isolated iliac artery aneurysms, reporting 13 cases during the 15-year compilation of autopsy and operating records in Malmo Sweden, population 230,000. They found only one isolated EIA aneurysm in that same study. 5 Regardless of how rare they are, many investigations have demonstrated that isolated iliac artery aneurysm are associated with a high risk of rupture and mortality, with rates of rupture between 14% and 75%. 2 , 11 , 12 The high mortality rate is postulated to be due to the lack of inclusion of iliac artery aneurysms in a differential diagnosis of pelvic conditions, partly owing to their rarity. Also, owing to the nature and location of the pathology, they are difficult to detect on physical exam until they are at a size when they are at risk for a morbid rupture. 3 McCready et al described that 78% of the patients in their study presented asymptomatically with their iliac artery aneurysm, similar to the patient described in this case study. Few cases have been reported describing isolated aneurysms of the EIA ( Table ). The first case report in 1952 described a patient who presented symptomatically with abdominal and lower limb pain. Surgical exploration revealed an EIA aneurysm that had ruptured. 13 The next three case reports published between 1986 and 2009 described iliac artery aneurysms involving the EIA that were found histologically to be due to cystic medial necrosis. 14 , 15 , 16 More recently, in 2019 two cases were presented with a 65-year-old symptomatic patient with left lower limb edema and a 55-year-old symptomatic patient with intermittent left thigh pain associated with paresthesias, both ipsilateral to the isolated EIA aneurysm. 17 , 18 Finally in 2020, there was another case report, similar to Crivello's, describing a symptomatic isolated EIA aneurysm associated with cystic medial necrosis. 19 In the present report, we have presented the case of a 68-year-old man who was completely asymptomatic, with an incidental finding of an EIA aneurysm. Until the presentation of our case, a search of PubMed found only seven reported cases of isolated EIA aneurysm, none of which were completely asymptomatic or repaired endovascularly. Table Reported cases of isolated external iliac artery ( EIA ) aneurysm Author Age, years Sex Size, cm Year Priddle et al 13 29 Female 4.0 1952 Crivello et al 14 27 Male Not available 1986 Mohan et al 15 66 Male 11.0 1997 Kato et al 16 78 Female 4.0 2009 Van de Luijtgaarden et al 17 65 Male 3.5 2019 Hussain et al 18 55 Male 7.0 2019 Chatzantonis et al 19 51 Male 2.0 2020 Current case 68 Male 2.6 2023 With this case report, we hope to stimulate a discussion on when to intervene on these rare pathologies. Although we have guidelines, based on large sample studies, for when to fix common or internal iliac artery aneurysms, the rarity of isolated EIA aneurysms leaves vascular surgeons without clear directions on when to fix them, especially when they are asymptomatic. Of the different publications reporting sizes of isolated EIA aneurysms, we found that most were repaired between 2 and 4 cm, mostly in men approximately 60 years old. Until clearer, large sample studies are performed, we recommend early repair of these aneurysms (diameter ≥2 cm) owing to the risk of rupture or symptoms seen in prior publications. Additionally, we now have the availability of minimally invasive interventions, with endografts that are able to be surveilled postoperatively with ultrasound examination. None. None. | Clinical case | clinical | en | 0.999996 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697483 | Schwannomas are tumors originating from the Schwann cells of peripheral nerves. Approximately 25–45% of schwannomas occur in the head and neck region , followed by the limbs . Schwannoma in the pancreas is extremely rare. Pancreatic schwannomas are usually solid or cystic benign tumors, though some may have a tendency for malignant transformation , and their pathogenesis remains unclear. It primarily affects individuals between the ages of 20 and 50, with no gender preference. Most patients present with gastrointestinal symptoms, such as nausea, vomiting, and indigestion, although some cases are asymptomatic. Currently, the treatment for pancreatic schwannomas primarily involves surgical resection. Pancreaticoduodenectomy (PD) and distal pancreatectomy (DP) are the main surgical approaches reported in most cases, with only one report detailing a case where central pancreatectomy (CP) was performed . In this article, we present a report on a 44-year-old female patient with pancreatic schwannoma and diabetes who underwent CP, and conduct a review of the relevant literature. In 2021, a 44-year-old female presented to a local hospital with upper abdominal discomfort. Abdominal Computed Tomography (CT) revealed a pancreatic mass, and she was subsequently transferred to our hospital for further treatment . Physical examination showed a deep mass in the upper abdomen, approximately 7 cm × 7 cm in size, with a hard consistency and poor mobility. No other significant abnormalities were noted on the rest of the examination. The patient had a 2-year history of type 2 diabetes with poor medication control. Tumor markers, including CEA, CA19-9, and CA72-4, were within normal limits, but neuron-specific enolase (NSE) was elevated. Insulin: 36.57 mIU/L, C-peptide: 1.9 nmol/L, albumin: 37.6 g/L and LDH: 201 U/L. Abdominal CT revealed a 64 mm × 54 mm mass in the body of the pancreas, with clear borders and no enhancement on the slice, and mild dilation of the main pancreatic duct was observed, but no evidence of metastasis was found . Due to the patient’s financial constraints, she refused a magnetic resonance imaging (MRI) scan, which hindered the accuracy of our diagnosis. MRI, with its ability to assess tumor characteristics through various sequences such as T1 and T2, can more accurately display the tumor’s morphology and its relationship with surrounding tissues, which is extremely helpful for diagnosing solid tumors. Clinically, pancreatic cystic tumors are more common than pancreatic schwannomas, and the CT features of pancreatic solid pseudopapillary neoplasms (pSPN) can closely resemble those of pancreatic schwannomas. Based on the patient’s symptoms and laboratory results, our preliminary diagnosis was pSPN. The Royal Marsden Hospital score indicated a low-risk group, suggesting a relatively favorable prognosis . Fig. 1 The timeline of key events during patient care Fig. 2 Preoperative abdominal CT. A : Abdominal x-ray plain films; B : Non-contrast enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The tumor indicated by the arrow in the figure is a pancreatic schwannoma. It is a low-density solid mass under non-contrast enhanced CT, and heterogeneous enhancement can be seen under contrast-enhanced CT After obtaining informed consent from the patient and her family, our treatment team performed an exploratory laparotomy. During surgery, a mass approximately 8 cm × 7 cm × 4 cm was palpated in the body of the pancreas. Therefore, the patient underwent CP and Roux-en-Y pancreaticojejunostomy. The postoperative CT images of the patient are shown in Fig. 3 , the direction indicated by the arrows in pictures A and B shows the pancreatic remnant, while the arrows in pictures C and D indicate the location of Roux-en-Y pancreaticojejunostomy, with the pancreatic stent clearly visible at the central part of the pancreas. Frozen section analysis was performed on the mass that was completely resected. The frozen section labeled “pancreatic mass” revealed tumor cells that were polygonal or round in shape, uniform in morphology, and arranged in cords or blocks. Foam-like stromal cells were observed. We suspected that the mass was a pSPN, which needs to be differentiated from pancreatic neuroendocrine neoplasm. The paraffin section showed that the tumor cells had round or polygonal nuclei, with fine granular chromatin. Some nuclei contained visible nucleoli, and the cellular boundaries were not well defined. The cells were arranged in a palisading pattern in some areas, and the other were arranged in a rope-like or fascicular pattern, or in a pseudo-glandular or sheet-like arrangement . Immunohistochemical results : S100 (+), P53 (+), CK5/6 (-), CD56 (+), CD68 (+), Ki − 67 hot zone (< 5% +), NSE (+). The diagnosis was pancreatic schwannoma. Fig. 3 Postoperative CT images after Roux-en-Y Pancreaticojejunostomy. A : Arterial phase of contrast-enhanced CT; B : Venous phase of contrast-enhanced CT; C : Arterial phase of contrast-enhanced CT; D : Venous phase of contrast-enhanced CT; Note: The arrows in pictures A and B indicate the residual pancreatic head; The arrow in picture C indicates the location of the anastomosis of pancreaticojejunostomy; The arrow in picture D indicates the residual pancreatic tail Fig. 4 Pathological photograph. A : Resected pancreatic schwannoma; B : H&E ×100, a large amount of foamy histiocytes were deposited in the interstitium; C : H&E ×200, the epithelioid tumor cells were arranged in strips and sheets, and the stroma was collagenous; D : H&E ×200, lymphocyte aggregation at the edge of the tumor Fig. 5 Immunohistochemical staining picture. A : S100 (+) ×200; B : S100 (+) ×400; C : NSE (+) ×200; D : NSE (+) ×400 After surgery, the patient developed abdominal pain and fever. Amylase and lipase levels in the abdominal drain fluid were elevated, indicating a Grade B pancreatic fistula. The patient was treated symptomatically with fasting, nutritional support, antibiotics, and gastric lavage. After these treatments, her symptoms resolved, and the amylase levels in the drain fluid returned to normal. Preoperatively, her fasting venous blood glucose was approximately 8–15 mmol/L, controlled by oral medications, but with poor efficacy. Postoperatively, her fasting venous blood glucose fluctuated between 12 and 20 mmol/L with insulin therapy. After her feeding, subcutaneous insulin injections were used to maintain blood glucose levels below 11.1 mmol/L. About 40 days after surgery, her treatment was adjusted to oral hypoglycemic medications, and her venous blood glucose was stabilized at around 10 mmol/L. At a 32-month follow-up after discharge, no tumor recurrence was observed, and the patient’s blood glucose was controlled below 11.1mmol/L with only oral antidiabetic drugs. The patient fully understood the purpose of this case report and its contents, and she signed an informed consent form allowing the publication of her relevant medical information. Schwannomas are tumors originating from Schwann cells, which surround the myelinated nerve fibers. Schwannomas are generally benign, with approximately 10–15% undergoing malignant transformation . These tumors are most commonly found in the limbs, neck, mediastinum, retroperitoneum, and posterior nerve roots of the spinal cord . The majority of patients present initially with a painless mass, and other signs and symptoms vary depending on the tumor’s anatomical location . Zhang included 75 reported cases of pancreatic schwannomas, with abdominal pain being the most common symptom (44%), followed by asymptomatic patients (31%), and other symptoms include weight loss, mass, and jaundice . Pancreatic schwannomas are extremely rare , and their growth pattern is similar to that of schwannomas found in other parts of the body. However, pancreatic schwannomas typically present with nonspecific abdominal pain . The most common location for pancreatic schwannomas is the head of the pancreas, followed by the body, tail, and uncinate process . A literature search was conducted in September 2024. The MeSH term “pancreatic schwannoma” was used in searches on both PubMed and China National Knowledge Infrastructure (CNKI). The PubMed search for the past decade yielded 38 articles describing 41 detailed cases of pancreatic schwannoma in the English literature. The CNKI search for the past decade identified 4 articles describing 4 detailed cases of pancreatic schwannoma in the Chinese literature (Detailed documents are provided in the supplementary materials ). We analyzed and summarized the 45 cases of pancreatic schwannoma identified from the searches, with clinical and pathological data summarized in Table 1 . Table 1 Summary of clinicopathological data from all 45 cases of pancreatic schwannoma reported in the recent 10 years N (%) or Mean ± SD Age (year) ( n = 45) ≤ 30 4 30–60 22 ≥ 60 19 55.43 ± 14.839 Sex ( n = 45) Male 15 Female 30 Male: Female 1:2 Symptoms ( n = 41) Abdominal pain 20(48.78%) Abdominal bloating 2 (4.88%) Diarrhea 1(2.44%) Nausea/ Vomiting 3(7.32%) Indigestion 3(7.32%) Weight loss 4(9.76%) Jaundice 2(4.88%) No symptoms 17(41.46%) Tumor location ( n = 45) Head 19(42.22%) Head + body 6(13.33%) Body 11(24.44%) Body + Tail 1(2.22%) Tail 8(17.78%) Nature of tumor on imaging ( n = 44) Soild 28(63.64%) Cystic 9(20.45%) Soild + Cystic 7(15.91%) Preoperative diagnosis ( n = 36) Pancreatic Schwannoma 16(44.44%) Pancreatic cystadenoma 8(22.22%) Pancreatic solid pseudopapillary neoplasm 8(22.22%) Neuroendocrine neoplasm 1(2.78%) Acinic cell carcinoma 1(2.78%) Pancreatic cancer 2(5.56%) Accuracy 35.60% Surgical methods ( n = 40) Enucleation of tumor 10(25.00%) Pancreaticoduodenectomy 9(22.50%) Distal pancreatectomy 11(27.50%) Central pancreatectomy 2(5.00%) Conservative treatment 8(20.00%) Note: Because some patients come in with multiple symptoms, the percentage in the symptoms column will be greater than 100% Due to the lack of specific diagnostic methods, preoperative diagnosis of pancreatic schwannoma is challenging. In the absence of pathological results, imaging is often a key tool for preoperative diagnosis. On CT, pancreatic schwannomas typically present as well-defined, round or oval masses with clear borders, marked cystic degeneration, and punctate calcifications. CT contrast enhancement shows localized cystic changes within the tumor, with areas of low density and no enhancement . Malignant transformation of pancreatic schwannomas is characterized by rapid growth, infiltration of surrounding tissues, and the presence of irregularly shaped, solid, heterogeneous masses, with possible lymph node metastasis . Additionally, the tumor may show the formation of vascular thrombosis. On MRI, a well-defined pancreatic mass appears as heterogeneous high signal intensity on T2-weighted images, with distinct low signal intensity on T1-weighted images, and high signal intensity on diffusion-weighted imaging. The mass shows mild enhancement in the arterial phase, with further enhancement in the portal venous and delayed phases. These imaging features suggest a possible diagnosis of pancreatic schwannoma . The diagnosis of schwannoma requires differentiation from other pancreatic tumors, such as pancreatic cystic tumors, pancreatic neuroendocrine neoplasms, pancreatic solid pseudopapillary neoplasms (pSPN), and pancreatic cancer. Pancreatic cystic tumors primarily present as cystic lesions on imaging, characterized by fluid-filled dark areas, often with multilocular structures and minimal solid components, which differ significantly from pancreatic schwannomas. Pancreatic neuroendocrine neoplasms share both cystic and solid components, similar to schwannomas, but neuroendocrine neoplasms tend to exhibit a dense vascular pattern, leading to homogeneous enhancement on contrast-enhanced CT , which is not consistent with the imaging features of pancreatic schwannomas. pSPN are also mixed solid-cystic masses, making them difficult to distinguish from pancreatic schwannomas. Moreover, pSPN can also present as cystic masses or calcified cystic tumors . Although pancreatic schwannoma and pSPN have similar imaging findings, pSPN does not express NSE, whereas pancreatic schwannoma does. Therefore, these two diseases can be differentiated through a combination of imaging studies and laboratory examinations. Early pancreatic cancer can present as a solitary solid mass similar to pancreatic schwannoma. However, pancreatic cancer has distinct features, such as elevated CA-199 levels, significant enhancement on contrast-enhanced CT and clear signs of tissue invasion, which help differentiate it from pancreatic schwannomas. Compared to CT, PET/CT is more sensitive for the diagnosis of pancreatic cancer . Therefore, in our data, the misdiagnosis rate for pancreatic cancer is relatively low. Since the first case of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) was performed in 1997 , EUS-FNA has been very helpful for the preoperative diagnosis of pancreatic schwannoma [ 20 – 24 ]. With the development of technology, the sensitivity of EUS-FNA for determining the nature of a tumor can exceed 90%, with a specificity of over 97% . This technique plays a crucial role in formulating precise treatment plans, not only optimizing medical decisions but also significantly improving treatment outcomes and prognosis for patients. Currently, the diagnosis of pancreatic schwannoma mainly relies on histopathology and immunohistochemical staining. Pancreatic schwannomas are uniform, yellow-brown nodules with clear boundaries and an intact capsule observed macroscopically [ 27 – 29 ]. Microscopically, they typically exhibit two types of tissue structures: Antoni A and Antoni B. The Antoni A area is characterized by a rich presence of spindle-shaped cells, usually arranged in a palisade pattern or forming Verocay bodies . Tumor cells in the Antoni A area have very few mitotic figures, typically less than 5 mitotic figures per 10 high-power fields . In contrast, the Antoni B area has fewer tumor cells, which are arranged in a sparse network-like structure. There is a large amount of fluid and mucinous matrix within and between cells, forming cystic structures, typically exhibiting degenerative changes such as myxoid changes, cyst formation, stromal hemorrhage, and calcification . On CT, Antoni A-type pancreatic schwannomas appear as low-density solid masses with an uneven enhancement pattern, occasionally with multiple septal enhancements. Antoni B-type pancreatic schwannomas tend to appear as homogeneous cystic or multiple masses . The more vascularized Antoni A areas typically show enhancement, while Antoni B areas show no enhancement . Almost all benign schwannomas contain abundant S100 (+) cells, while only about 50% of malignant schwannomas show S100 (-), suggesting that S100 can be used as an initial marker to differentiate between benign and malignant schwannomas [ 30 , 35 – 38 ]. NSE is a glycolytic enzyme isozyme primarily found in the cytoplasm of central and peripheral neurons, as well as neuroendocrine cells, and is an important marker for diagnosing various neuroendocrine neoplasm . Through literature review, we found that pancreatic tissue-derived tumors rarely express this enzyme . Therefore, the strong positive staining for S100 and NSE in this case provides solid evidence for the diagnosis of pancreatic schwannoma. Most schwannomas grow slowly, with an average growth rate of 1.2 mm per year . Small schwannomas can be monitored periodically . However, for symptomatic schwannomas, surgical treatment is necessary. Regarding surgical options for pancreatic schwannoma, in cases with a confirmed diagnosis, complete resection can achieve the therapeutic goal. However, if the preoperative diagnosis is unclear, the tumor should be completely resected during surgery, and frozen section pathology should be performed to determine the extent of resection. In a previous review of 65 cases of pancreatic schwannomas, Fukuhara et al. found that schwannomas most commonly occur in the head of the pancreas (40%), followed by the body (23.1%), tail (10.8%), and uncinate process (10.8%). The most common treatment approach is pancreaticoduodenectomy (34%), followed by distal pancreatectomy (25%) and enucleation (14%). The pancreas is a key organ responsible for secreting various hormones and digestive enzymes. Insulin and glucagon are secreted by the β-cells and α-cells of the pancreas, respectively, and play a central role in glucose metabolism . Pancreatic resection can be categorized into two main types: partial and total. Total pancreatic resection results in complete loss of both endocrine and exocrine functions of the pancreas, leading to difficulty in achieving glucose control . In contrast, partial pancreatic resection preserves both the endocrine and exocrine functions of the pancreas, making it easier to manage blood glucose levels compared to total pancreatic resection. Partial pancreatic resection can be further subdivided into pancreaticoduodenectomy (PD), distal pancreatectomy (DP), and central pancreatectomy (CP). After PD, about 50% of the pancreatic tissue remains, which leads to a reduction in the secretion of insulin and glucagon . For patients with preexisting diabetes, this operation may worsen their condition. Additionally, PD significantly alters the digestive system and reduces exocrine function , making it unacceptable for patients with non-malignant tumors who do not require radical surgery . After DP, approximately 30-40% of the pancreatic tissue remains . Compared to PD, DP has a relatively smaller impact on the structure of the digestive system. However, this operation inevitably involves the removal of a considerable amount of healthy pancreatic tissue, which can significantly affect the postoperative recovery of pancreatic function . In contrast, CP preserves more pancreatic tissue (and sometimes the spleen), which greatly facilitates the recovery of pancreatic function post-surgery. Studies have shown that the incidence of new-onset diabetes after CP is lower than after PD and DP , suggesting that CP has a lesser impact on pancreatic function and a better blood glucose control for diabetic patients. However, CP also has certain drawbacks. Due to the necessity of carefully managing both ends of the pancreatic remnant, CP requires longer operating times and is associated with a higher incidence of pancreatic fistula compared to PD and DP. A meta-analysis by Bi et al. comparing the advantages and disadvantages of DP and CP supports this conclusion. The surgical time in the DP group was significantly shorter than CP group, but intraoperative blood loss was higher in the DP group. Regarding postoperative complications, the incidence of pancreatic fistula in the CP group (36.9%) was significantly higher than DP group (20.2%). The incidence of severe postoperative complications (Clavien-Dindo grade III or higher) in the CP group (21.8%) was also higher than DP group (12.8%). However, the incidence of endocrine insufficiency after surgery in the CP group (6.7%) was much lower than DP group (20.6%), and the incidence of new-onset or worsened diabetes in the CP group was also lower than DP group . On the other hand, another article indicated no significant difference in the probability of pancreatic fistula between the CP and DP groups . This discrepancy may be attributed to the surgeon’s technical skills, suggesting that CP can minimize its drawbacks and effectively prevent postoperative metabolic disorders through precise technique and enhanced postoperative care, ultimately ensuring a higher quality of life for patients after surgery. Additionally, after comparing 34 patients in the CP group and 262 patients in the DP group, Chen YW et al. found that no new-onset or worsening diabetes occurred in the CP group, while 40 patients in the DP group developed endocrine insufficiency after surgery ( P < 0.05), and the incidence of exocrine insufficiency was significantly higher in the DP group . Some studies have pointed out that poor blood glucose control increases the risk of surgical site infections . Therefore, CP can preserve both endocrine and exocrine pancreatic functions postoperatively, reducing the incidence of new-onset or worsening diabetes , which offers long-term benefits for the patients. In this case, the patient’s diabetes remained stable after surgery, with oral medication treatment, demonstrating the therapeutic value of CP for patients with pancreatic schwannomas and diabetes. In conclusion, pancreatic schwannoma is a rare disease that presents unique challenges in both diagnosis and treatment. Due to the lack of specific clinical symptoms and typical imaging features, the preoperative misdiagnosis rate remains high, making it a significant challenge to improve diagnostic accuracy. However, once diagnosed, surgical treatment typically yields favorable outcomes and prognosis. In this case, we chose CP and achieved significant therapeutic success. Our treatment experience, combined with findings from previous literature, suggests that CP may be a more ideal surgical approach for patients with pancreatic schwannoma and diabetes. Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 | Clinical case | biomedical | en | 0.999997 |
PMC11697502 | Arteriovenous fistulas (AVFs) of the filum terminale (FTAVFs) are rare vascular malformations that can present with symptoms ranging from low back pain (LBP) to severe radiculopathy . Overall, vascular malformations of the spine are relatively rare (3% of all spinal arteriovenous shunts), with lesions occurring caudal to the conus medullaris infrequently observed . FTAVFs are perimedullary arteriovenous malformations (AVMs) that are found on the surface of the pia mater and are without a capillary bed between arterial and venous systems . These lesions are classified as type IV arteriovenous malformations of the spinal cord and are subcategorized into type IVa, type IVb, and type IVc by Anson and Spetzler . Type IVa lesions are low-flow AVFs supplied by a single anterior spinal artery (ASA) branch. Type IVb lesions are intermediate-flow fistulas with multiple arterial feeders. Type IVc lesions are high-flow fistulas supplied by several ASA or posterior spinal artery branches . Over time, these fistulas contribute to the development of myelopathic or radicular symptoms, secondary to abnormal vascular flow and venous congestion, resulting in arterial insufficiency . Treatment for FTAVFs includes endovascular embolization or open microsurgical resection . The treatment choice is made for each patient individually, depending on vascular characteristics and institutional resources . Importantly, lesions that are not completely obliterated surgically or endovascularly are at high risk of recurring with worsening of symptoms. In this report, we present the case of a 64-year-old male who presented to the hospital with lower back pain and proximal bilateral lower extremity weakness. Additionally, we provide a current literature review of reported cases of FTAVFs. A 64-year-old male of African descent presented to the emergency room with lower back pain and bilateral lower extremity weakness of several months’ duration. His only neurological deficit was 4/5 strength in the bilateral lower extremities, most notably proximally in the hip flexors and extensors. An outpatient MRI of the thoracic spine demonstrated cord edema from T7-conus medullaris and multiple flow voids consistent with intradural vessels overlying the spinal cord, which progressed to T1-L2 cord edema on the preoperative MRI scan . A spinal digital subtraction angiogram (DSA) demonstrated a perimedullary arteriovenous fistula spanning the L2-5 vertebrae supplied by the ASA originating from the artery of Adamkiewicz . Angiographic embolization of the lesion under general anesthesia was offered and scheduled. Somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) were monitored for the procedure. A 5-Fr Cobra tip femoral angiography sheath was introduced through the left femoral artery and advanced cranially through the descending aorta under fluoroscopy during the procedure. Contrast dye and overlay mapping were then utilized to identify the artery of Adamkiewicz, which originated at the level of the left L2 intervertebral foramen. Once the AVF was isolated on fluoroscopy, a preembolization trial with lidocaine and pentobarbital greatly diminished SSEPs in the lower extremities, with a similar loss of MEPs. Due to the loss of neuromonitoring signals, it was considered unsafe to proceed with the embolization, and open surgical treatment was planned. In situations where endovascular embolization results in loss of neuromonitoring, open approaches are preferred as occlusion of the feeding artery/arteries can be rapidly reversed by removing the temporary clip to avoid permanent detriment to the spinal cord, which may not be readily resolved during embolization procedures. Following team and patient discussions, microsurgical obliteration of the AVF through an open surgical approach was planned. Following the L2-4 laminectomy, the dura was longitudinally opened under microscopic visualization. After proper extradural hemostasis was achieved, the dura was opened longitudinally and tacked up to the laterally dissected paraspinal musculature. At this point, the cauda equina and filum terminale came into view. A prominent arterialized vein coursing alongside the filum was identified. Indocyanine green (ICG) video angiography confirmed arterialization of the vein at the lower end of L4 with contiguous vessels visualized going caudally and another traveling cephalad. A temporary clip was then applied just cephalad to the site of the AVF, and intraoperative angiography confirmed occlusion of the AVF. No signal change from baseline in neuromonitoring occurred. A permanent clip was then deployed cephalad to the first clip, followed by bipolar cauterization of the filum terminale between the two micro-vascular clips . The filum terminale was divided, and adequate closure was then achieved in a multilayer fashion. No surgical specimen was sent for pathologic diagnosis. The patient tolerated the procedure well and his lower extremity weakness was mildly improved compared to presurgical assessment. Postoperative spinal angiography displayed resolution of the FTAVF. Ten days following discharge, while in acute rehab, the patient experienced severe shortness of breath and was diagnosed with a saddle pulmonary embolism. Interventional thrombectomy was attempted and successful. A right lower extremity deep venous thrombosis (DVT) was identified with compression ultrasonography (US). Due to contraindications for antiplatelets and anticoagulants, an inferior vena cava (IVC) filter was placed. The patient was stabilized and discharged to subacute rehabilitation. Here, we present a case of a 64-year-old male patient presented with myelopathic symptoms of the lower extremities. The patient’s symptoms had quickly progressed from LBP to lower extremity pain and weakness, for which an MRI with and without contrast of the lumbar spine was appropriately performed, demonstrating spinal cord edema from T1-L2. Further investigation revealed a FTAVF at the level of L2-L5, originating from the artery of Adamkiewicz. Endovascular intervention was planned. However, following changes in neuromonitoring during the endovascular approach, the patient underwent successful open surgical intervention. Spinal AVMs are rare tortuous vascular lesions that often arise in pediatric populations . In 1987, Rosenblum et al. proposed a four-tier classification system for spinal AV shunts . In 1992, Anson and Spetzler further developed the system by adding subclassifications for type IV lesions (Table 1 ) . The lesion in the present case fits with a type IVa AV shunt . These lesions are low-flow, high-pressure systems that are often unstable and unpredictable. Due to the low flow in this system, ischemia can occur in the supplied tissue, a condition known as "Foix-Alajouanine syndrome" or "subacute necrotizing myelopathy." This involves progressive congestive ischemia of the spinal cord, which develops over months or years . Progressive myelopathy, radiculopathy, LBP, and bladder or bowel incontinence may also occur during the course of the disease. Due to the high pressure of this system, these lesions are vulnerable to rupture, resulting in hemorrhaging into the subarachnoid space. Rapid, excruciating back pain is often the first symptom, classically referred to as “Coup de poignard of Michon" . Efficient diagnosis and treatment are crucial to avoid catastrophic outcomes in these patients, which may involve permanent damage to the spinal cord and possibly death. In cases of FTAVFs, the main cause of neurological symptoms is unlikely to be due to direct ischemia or compression of the AVF on the FT or adjacent nerve roots. The cauda equina typically has adequate space to maneuver and the FT rarely carries any meaningful neurologic signals. The symptoms are thought to be primarily due to the venous congestion caused by the AVF, affecting the levels of cephalad to the fistula, and can cause myelopathic or radicular symptoms . On MRI, venous congestion is visualized in the form of spinal cord edema at the spinal levels, where congestion has impacted normal vascular dynamics . Importantly, this edema, and presumably the venous stasis, is typically improved or eliminated when FTAVFs are promptly treated . Many patients affected by FTAVFs also present with lumbar spinal stenosis, leading some to hypothesize that longstanding neural compression and inflammation can contribute to AVF formation . In the cases indexed in this literature review, 17 cases reported the presence of lumbar spinal stenosis (nine cases reported the absence of lumbar spinal stenosis and 32 cases failed to report the absence or presence of stenosis). The presence of concurrent lumbar stenosis has the potential to mask the true cause of symptoms, especially when symptoms are primarily radicular, causing a delay in diagnosis. Treatment for FTAVFs may include surgical, endovascular, or radiotherapeutic management. The surgical approach has previously been established as the modality of choice, with the first successful treatment in 1916 . This approach involves occlusion of the receiving vein of the shunt, with definitive interruption of other spinal draining veins. This is crucial for successful treatment, as occlusion of arterial feeders may result in re-establishment of the fistula via recruitment of new arterial feeders, which can lead to relapsing symptoms . Surgical management has been shown to be the most definitive treatment . However, endovascular treatment has recently seen a surge in popularity in treating spinal AVFs . Many institutions utilize endovascular techniques as first-line treatment as it is less invasive. While no difference has been seen when comparing complication rates between surgical and endovascular management for spinal AVFs, embolization is associated with a much higher failure rate, with patients often having to return for open surgery or repeat endovascular embolization . Finally, stereotactic radiosurgery has also been described in the literature as a means to treat dural AVFs . However, it has not been established as a mode of treatment for perimedullary AVFs, and with the availability of other effective treatment options, radiosurgery is currently not recommended as a management option in most AVF cases . We indexed and reviewed 24 articles with 59 cases in the literature that reported FTAVFs with either progressive myelopathy and/or radiculopathy. The identified feeding vessel(s) and subsequent draining vein(s), chosen treatment options, complications, and outcomes are shown in Table 2 . The patients' ages ranged from 3 to 84 years, with 38 males, nine females, and two unidentified. FTAVFs were more common in males, which is consistent with previously published literature . We compared the approach of treating AVFs (for which both endovascular and microsurgical approaches have been frequently utilized) by observing outcomes and intraoperative or postoperative complications. Both approaches offered positive outcomes, resulting in improvement, if not resolution of symptoms in a majority of cases. However, in previously reported cases of FTAVF, endovascular treatment was associated with more complications (46.7%), with failed embolization being the reported complication in all cases, requiring repeat embolization or subsequent microsurgical intervention. There were two cases of microsurgical complications in which patients experienced worsening urinary symptoms. Cases treated with microsurgery reported higher success rates with complete resolution being identified in 14 of the 59 cases. Compared to endovascular approaches which had no cases reporting complete symptom resolution. Finally, microsurgical management reported two cases where symptoms were unchanged, compared to one case that was approached endovascularly. This case demonstrates the importance of early identification and treatment of AVFs, as well as the importance of a multidisciplinary therapeutic approach. In this case, endovascular embolization was attempted; however, it was aborted due to loss of neuromonitoring signal, and open surgical management was scheduled. Successful treatment was achieved with microsurgery, with improvement immediately postoperatively. While endovascular management is often highly successful in treating FTAVFs, surgeons should be prepared for microsurgical treatment if embolization fails or is unsafe to proceed. | Clinical case | biomedical | en | 0.999998 |
PMC11697502 | Arteriovenous fistulas (AVFs) of the filum terminale (FTAVFs) are rare vascular malformations that can present with symptoms ranging from low back pain (LBP) to severe radiculopathy . Overall, vascular malformations of the spine are relatively rare (3% of all spinal arteriovenous shunts), with lesions occurring caudal to the conus medullaris infrequently observed . FTAVFs are perimedullary arteriovenous malformations (AVMs) that are found on the surface of the pia mater and are without a capillary bed between arterial and venous systems . These lesions are classified as type IV arteriovenous malformations of the spinal cord and are subcategorized into type IVa, type IVb, and type IVc by Anson and Spetzler . Type IVa lesions are low-flow AVFs supplied by a single anterior spinal artery (ASA) branch. Type IVb lesions are intermediate-flow fistulas with multiple arterial feeders. Type IVc lesions are high-flow fistulas supplied by several ASA or posterior spinal artery branches . Over time, these fistulas contribute to the development of myelopathic or radicular symptoms, secondary to abnormal vascular flow and venous congestion, resulting in arterial insufficiency . Treatment for FTAVFs includes endovascular embolization or open microsurgical resection . The treatment choice is made for each patient individually, depending on vascular characteristics and institutional resources . Importantly, lesions that are not completely obliterated surgically or endovascularly are at high risk of recurring with worsening of symptoms. In this report, we present the case of a 64-year-old male who presented to the hospital with lower back pain and proximal bilateral lower extremity weakness. Additionally, we provide a current literature review of reported cases of FTAVFs. A 64-year-old male of African descent presented to the emergency room with lower back pain and bilateral lower extremity weakness of several months’ duration. His only neurological deficit was 4/5 strength in the bilateral lower extremities, most notably proximally in the hip flexors and extensors. An outpatient MRI of the thoracic spine demonstrated cord edema from T7-conus medullaris and multiple flow voids consistent with intradural vessels overlying the spinal cord, which progressed to T1-L2 cord edema on the preoperative MRI scan . A spinal digital subtraction angiogram (DSA) demonstrated a perimedullary arteriovenous fistula spanning the L2-5 vertebrae supplied by the ASA originating from the artery of Adamkiewicz . Angiographic embolization of the lesion under general anesthesia was offered and scheduled. Somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) were monitored for the procedure. A 5-Fr Cobra tip femoral angiography sheath was introduced through the left femoral artery and advanced cranially through the descending aorta under fluoroscopy during the procedure. Contrast dye and overlay mapping were then utilized to identify the artery of Adamkiewicz, which originated at the level of the left L2 intervertebral foramen. Once the AVF was isolated on fluoroscopy, a preembolization trial with lidocaine and pentobarbital greatly diminished SSEPs in the lower extremities, with a similar loss of MEPs. Due to the loss of neuromonitoring signals, it was considered unsafe to proceed with the embolization, and open surgical treatment was planned. In situations where endovascular embolization results in loss of neuromonitoring, open approaches are preferred as occlusion of the feeding artery/arteries can be rapidly reversed by removing the temporary clip to avoid permanent detriment to the spinal cord, which may not be readily resolved during embolization procedures. Following team and patient discussions, microsurgical obliteration of the AVF through an open surgical approach was planned. Following the L2-4 laminectomy, the dura was longitudinally opened under microscopic visualization. After proper extradural hemostasis was achieved, the dura was opened longitudinally and tacked up to the laterally dissected paraspinal musculature. At this point, the cauda equina and filum terminale came into view. A prominent arterialized vein coursing alongside the filum was identified. Indocyanine green (ICG) video angiography confirmed arterialization of the vein at the lower end of L4 with contiguous vessels visualized going caudally and another traveling cephalad. A temporary clip was then applied just cephalad to the site of the AVF, and intraoperative angiography confirmed occlusion of the AVF. No signal change from baseline in neuromonitoring occurred. A permanent clip was then deployed cephalad to the first clip, followed by bipolar cauterization of the filum terminale between the two micro-vascular clips . The filum terminale was divided, and adequate closure was then achieved in a multilayer fashion. No surgical specimen was sent for pathologic diagnosis. The patient tolerated the procedure well and his lower extremity weakness was mildly improved compared to presurgical assessment. Postoperative spinal angiography displayed resolution of the FTAVF. Ten days following discharge, while in acute rehab, the patient experienced severe shortness of breath and was diagnosed with a saddle pulmonary embolism. Interventional thrombectomy was attempted and successful. A right lower extremity deep venous thrombosis (DVT) was identified with compression ultrasonography (US). Due to contraindications for antiplatelets and anticoagulants, an inferior vena cava (IVC) filter was placed. The patient was stabilized and discharged to subacute rehabilitation. Here, we present a case of a 64-year-old male patient presented with myelopathic symptoms of the lower extremities. The patient’s symptoms had quickly progressed from LBP to lower extremity pain and weakness, for which an MRI with and without contrast of the lumbar spine was appropriately performed, demonstrating spinal cord edema from T1-L2. Further investigation revealed a FTAVF at the level of L2-L5, originating from the artery of Adamkiewicz. Endovascular intervention was planned. However, following changes in neuromonitoring during the endovascular approach, the patient underwent successful open surgical intervention. Spinal AVMs are rare tortuous vascular lesions that often arise in pediatric populations . In 1987, Rosenblum et al. proposed a four-tier classification system for spinal AV shunts . In 1992, Anson and Spetzler further developed the system by adding subclassifications for type IV lesions (Table 1 ) . The lesion in the present case fits with a type IVa AV shunt . These lesions are low-flow, high-pressure systems that are often unstable and unpredictable. Due to the low flow in this system, ischemia can occur in the supplied tissue, a condition known as "Foix-Alajouanine syndrome" or "subacute necrotizing myelopathy." This involves progressive congestive ischemia of the spinal cord, which develops over months or years . Progressive myelopathy, radiculopathy, LBP, and bladder or bowel incontinence may also occur during the course of the disease. Due to the high pressure of this system, these lesions are vulnerable to rupture, resulting in hemorrhaging into the subarachnoid space. Rapid, excruciating back pain is often the first symptom, classically referred to as “Coup de poignard of Michon" . Efficient diagnosis and treatment are crucial to avoid catastrophic outcomes in these patients, which may involve permanent damage to the spinal cord and possibly death. In cases of FTAVFs, the main cause of neurological symptoms is unlikely to be due to direct ischemia or compression of the AVF on the FT or adjacent nerve roots. The cauda equina typically has adequate space to maneuver and the FT rarely carries any meaningful neurologic signals. The symptoms are thought to be primarily due to the venous congestion caused by the AVF, affecting the levels of cephalad to the fistula, and can cause myelopathic or radicular symptoms . On MRI, venous congestion is visualized in the form of spinal cord edema at the spinal levels, where congestion has impacted normal vascular dynamics . Importantly, this edema, and presumably the venous stasis, is typically improved or eliminated when FTAVFs are promptly treated . Many patients affected by FTAVFs also present with lumbar spinal stenosis, leading some to hypothesize that longstanding neural compression and inflammation can contribute to AVF formation . In the cases indexed in this literature review, 17 cases reported the presence of lumbar spinal stenosis (nine cases reported the absence of lumbar spinal stenosis and 32 cases failed to report the absence or presence of stenosis). The presence of concurrent lumbar stenosis has the potential to mask the true cause of symptoms, especially when symptoms are primarily radicular, causing a delay in diagnosis. Treatment for FTAVFs may include surgical, endovascular, or radiotherapeutic management. The surgical approach has previously been established as the modality of choice, with the first successful treatment in 1916 . This approach involves occlusion of the receiving vein of the shunt, with definitive interruption of other spinal draining veins. This is crucial for successful treatment, as occlusion of arterial feeders may result in re-establishment of the fistula via recruitment of new arterial feeders, which can lead to relapsing symptoms . Surgical management has been shown to be the most definitive treatment . However, endovascular treatment has recently seen a surge in popularity in treating spinal AVFs . Many institutions utilize endovascular techniques as first-line treatment as it is less invasive. While no difference has been seen when comparing complication rates between surgical and endovascular management for spinal AVFs, embolization is associated with a much higher failure rate, with patients often having to return for open surgery or repeat endovascular embolization . Finally, stereotactic radiosurgery has also been described in the literature as a means to treat dural AVFs . However, it has not been established as a mode of treatment for perimedullary AVFs, and with the availability of other effective treatment options, radiosurgery is currently not recommended as a management option in most AVF cases . We indexed and reviewed 24 articles with 59 cases in the literature that reported FTAVFs with either progressive myelopathy and/or radiculopathy. The identified feeding vessel(s) and subsequent draining vein(s), chosen treatment options, complications, and outcomes are shown in Table 2 . The patients' ages ranged from 3 to 84 years, with 38 males, nine females, and two unidentified. FTAVFs were more common in males, which is consistent with previously published literature . We compared the approach of treating AVFs (for which both endovascular and microsurgical approaches have been frequently utilized) by observing outcomes and intraoperative or postoperative complications. Both approaches offered positive outcomes, resulting in improvement, if not resolution of symptoms in a majority of cases. However, in previously reported cases of FTAVF, endovascular treatment was associated with more complications (46.7%), with failed embolization being the reported complication in all cases, requiring repeat embolization or subsequent microsurgical intervention. There were two cases of microsurgical complications in which patients experienced worsening urinary symptoms. Cases treated with microsurgery reported higher success rates with complete resolution being identified in 14 of the 59 cases. Compared to endovascular approaches which had no cases reporting complete symptom resolution. Finally, microsurgical management reported two cases where symptoms were unchanged, compared to one case that was approached endovascularly. This case demonstrates the importance of early identification and treatment of AVFs, as well as the importance of a multidisciplinary therapeutic approach. In this case, endovascular embolization was attempted; however, it was aborted due to loss of neuromonitoring signal, and open surgical management was scheduled. Successful treatment was achieved with microsurgery, with improvement immediately postoperatively. While endovascular management is often highly successful in treating FTAVFs, surgeons should be prepared for microsurgical treatment if embolization fails or is unsafe to proceed. | Clinical case | biomedical | en | 0.999998 |
PMC11697502 | Arteriovenous fistulas (AVFs) of the filum terminale (FTAVFs) are rare vascular malformations that can present with symptoms ranging from low back pain (LBP) to severe radiculopathy . Overall, vascular malformations of the spine are relatively rare (3% of all spinal arteriovenous shunts), with lesions occurring caudal to the conus medullaris infrequently observed . FTAVFs are perimedullary arteriovenous malformations (AVMs) that are found on the surface of the pia mater and are without a capillary bed between arterial and venous systems . These lesions are classified as type IV arteriovenous malformations of the spinal cord and are subcategorized into type IVa, type IVb, and type IVc by Anson and Spetzler . Type IVa lesions are low-flow AVFs supplied by a single anterior spinal artery (ASA) branch. Type IVb lesions are intermediate-flow fistulas with multiple arterial feeders. Type IVc lesions are high-flow fistulas supplied by several ASA or posterior spinal artery branches . Over time, these fistulas contribute to the development of myelopathic or radicular symptoms, secondary to abnormal vascular flow and venous congestion, resulting in arterial insufficiency . Treatment for FTAVFs includes endovascular embolization or open microsurgical resection . The treatment choice is made for each patient individually, depending on vascular characteristics and institutional resources . Importantly, lesions that are not completely obliterated surgically or endovascularly are at high risk of recurring with worsening of symptoms. In this report, we present the case of a 64-year-old male who presented to the hospital with lower back pain and proximal bilateral lower extremity weakness. Additionally, we provide a current literature review of reported cases of FTAVFs. A 64-year-old male of African descent presented to the emergency room with lower back pain and bilateral lower extremity weakness of several months’ duration. His only neurological deficit was 4/5 strength in the bilateral lower extremities, most notably proximally in the hip flexors and extensors. An outpatient MRI of the thoracic spine demonstrated cord edema from T7-conus medullaris and multiple flow voids consistent with intradural vessels overlying the spinal cord, which progressed to T1-L2 cord edema on the preoperative MRI scan . A spinal digital subtraction angiogram (DSA) demonstrated a perimedullary arteriovenous fistula spanning the L2-5 vertebrae supplied by the ASA originating from the artery of Adamkiewicz . Angiographic embolization of the lesion under general anesthesia was offered and scheduled. Somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) were monitored for the procedure. A 5-Fr Cobra tip femoral angiography sheath was introduced through the left femoral artery and advanced cranially through the descending aorta under fluoroscopy during the procedure. Contrast dye and overlay mapping were then utilized to identify the artery of Adamkiewicz, which originated at the level of the left L2 intervertebral foramen. Once the AVF was isolated on fluoroscopy, a preembolization trial with lidocaine and pentobarbital greatly diminished SSEPs in the lower extremities, with a similar loss of MEPs. Due to the loss of neuromonitoring signals, it was considered unsafe to proceed with the embolization, and open surgical treatment was planned. In situations where endovascular embolization results in loss of neuromonitoring, open approaches are preferred as occlusion of the feeding artery/arteries can be rapidly reversed by removing the temporary clip to avoid permanent detriment to the spinal cord, which may not be readily resolved during embolization procedures. Following team and patient discussions, microsurgical obliteration of the AVF through an open surgical approach was planned. Following the L2-4 laminectomy, the dura was longitudinally opened under microscopic visualization. After proper extradural hemostasis was achieved, the dura was opened longitudinally and tacked up to the laterally dissected paraspinal musculature. At this point, the cauda equina and filum terminale came into view. A prominent arterialized vein coursing alongside the filum was identified. Indocyanine green (ICG) video angiography confirmed arterialization of the vein at the lower end of L4 with contiguous vessels visualized going caudally and another traveling cephalad. A temporary clip was then applied just cephalad to the site of the AVF, and intraoperative angiography confirmed occlusion of the AVF. No signal change from baseline in neuromonitoring occurred. A permanent clip was then deployed cephalad to the first clip, followed by bipolar cauterization of the filum terminale between the two micro-vascular clips . The filum terminale was divided, and adequate closure was then achieved in a multilayer fashion. No surgical specimen was sent for pathologic diagnosis. The patient tolerated the procedure well and his lower extremity weakness was mildly improved compared to presurgical assessment. Postoperative spinal angiography displayed resolution of the FTAVF. Ten days following discharge, while in acute rehab, the patient experienced severe shortness of breath and was diagnosed with a saddle pulmonary embolism. Interventional thrombectomy was attempted and successful. A right lower extremity deep venous thrombosis (DVT) was identified with compression ultrasonography (US). Due to contraindications for antiplatelets and anticoagulants, an inferior vena cava (IVC) filter was placed. The patient was stabilized and discharged to subacute rehabilitation. Here, we present a case of a 64-year-old male patient presented with myelopathic symptoms of the lower extremities. The patient’s symptoms had quickly progressed from LBP to lower extremity pain and weakness, for which an MRI with and without contrast of the lumbar spine was appropriately performed, demonstrating spinal cord edema from T1-L2. Further investigation revealed a FTAVF at the level of L2-L5, originating from the artery of Adamkiewicz. Endovascular intervention was planned. However, following changes in neuromonitoring during the endovascular approach, the patient underwent successful open surgical intervention. Spinal AVMs are rare tortuous vascular lesions that often arise in pediatric populations . In 1987, Rosenblum et al. proposed a four-tier classification system for spinal AV shunts . In 1992, Anson and Spetzler further developed the system by adding subclassifications for type IV lesions (Table 1 ) . The lesion in the present case fits with a type IVa AV shunt . These lesions are low-flow, high-pressure systems that are often unstable and unpredictable. Due to the low flow in this system, ischemia can occur in the supplied tissue, a condition known as "Foix-Alajouanine syndrome" or "subacute necrotizing myelopathy." This involves progressive congestive ischemia of the spinal cord, which develops over months or years . Progressive myelopathy, radiculopathy, LBP, and bladder or bowel incontinence may also occur during the course of the disease. Due to the high pressure of this system, these lesions are vulnerable to rupture, resulting in hemorrhaging into the subarachnoid space. Rapid, excruciating back pain is often the first symptom, classically referred to as “Coup de poignard of Michon" . Efficient diagnosis and treatment are crucial to avoid catastrophic outcomes in these patients, which may involve permanent damage to the spinal cord and possibly death. In cases of FTAVFs, the main cause of neurological symptoms is unlikely to be due to direct ischemia or compression of the AVF on the FT or adjacent nerve roots. The cauda equina typically has adequate space to maneuver and the FT rarely carries any meaningful neurologic signals. The symptoms are thought to be primarily due to the venous congestion caused by the AVF, affecting the levels of cephalad to the fistula, and can cause myelopathic or radicular symptoms . On MRI, venous congestion is visualized in the form of spinal cord edema at the spinal levels, where congestion has impacted normal vascular dynamics . Importantly, this edema, and presumably the venous stasis, is typically improved or eliminated when FTAVFs are promptly treated . Many patients affected by FTAVFs also present with lumbar spinal stenosis, leading some to hypothesize that longstanding neural compression and inflammation can contribute to AVF formation . In the cases indexed in this literature review, 17 cases reported the presence of lumbar spinal stenosis (nine cases reported the absence of lumbar spinal stenosis and 32 cases failed to report the absence or presence of stenosis). The presence of concurrent lumbar stenosis has the potential to mask the true cause of symptoms, especially when symptoms are primarily radicular, causing a delay in diagnosis. Treatment for FTAVFs may include surgical, endovascular, or radiotherapeutic management. The surgical approach has previously been established as the modality of choice, with the first successful treatment in 1916 . This approach involves occlusion of the receiving vein of the shunt, with definitive interruption of other spinal draining veins. This is crucial for successful treatment, as occlusion of arterial feeders may result in re-establishment of the fistula via recruitment of new arterial feeders, which can lead to relapsing symptoms . Surgical management has been shown to be the most definitive treatment . However, endovascular treatment has recently seen a surge in popularity in treating spinal AVFs . Many institutions utilize endovascular techniques as first-line treatment as it is less invasive. While no difference has been seen when comparing complication rates between surgical and endovascular management for spinal AVFs, embolization is associated with a much higher failure rate, with patients often having to return for open surgery or repeat endovascular embolization . Finally, stereotactic radiosurgery has also been described in the literature as a means to treat dural AVFs . However, it has not been established as a mode of treatment for perimedullary AVFs, and with the availability of other effective treatment options, radiosurgery is currently not recommended as a management option in most AVF cases . We indexed and reviewed 24 articles with 59 cases in the literature that reported FTAVFs with either progressive myelopathy and/or radiculopathy. The identified feeding vessel(s) and subsequent draining vein(s), chosen treatment options, complications, and outcomes are shown in Table 2 . The patients' ages ranged from 3 to 84 years, with 38 males, nine females, and two unidentified. FTAVFs were more common in males, which is consistent with previously published literature . We compared the approach of treating AVFs (for which both endovascular and microsurgical approaches have been frequently utilized) by observing outcomes and intraoperative or postoperative complications. Both approaches offered positive outcomes, resulting in improvement, if not resolution of symptoms in a majority of cases. However, in previously reported cases of FTAVF, endovascular treatment was associated with more complications (46.7%), with failed embolization being the reported complication in all cases, requiring repeat embolization or subsequent microsurgical intervention. There were two cases of microsurgical complications in which patients experienced worsening urinary symptoms. Cases treated with microsurgery reported higher success rates with complete resolution being identified in 14 of the 59 cases. Compared to endovascular approaches which had no cases reporting complete symptom resolution. Finally, microsurgical management reported two cases where symptoms were unchanged, compared to one case that was approached endovascularly. This case demonstrates the importance of early identification and treatment of AVFs, as well as the importance of a multidisciplinary therapeutic approach. In this case, endovascular embolization was attempted; however, it was aborted due to loss of neuromonitoring signal, and open surgical management was scheduled. Successful treatment was achieved with microsurgery, with improvement immediately postoperatively. While endovascular management is often highly successful in treating FTAVFs, surgeons should be prepared for microsurgical treatment if embolization fails or is unsafe to proceed. | Clinical case | biomedical | en | 0.999998 |
PMC11697502 | Arteriovenous fistulas (AVFs) of the filum terminale (FTAVFs) are rare vascular malformations that can present with symptoms ranging from low back pain (LBP) to severe radiculopathy . Overall, vascular malformations of the spine are relatively rare (3% of all spinal arteriovenous shunts), with lesions occurring caudal to the conus medullaris infrequently observed . FTAVFs are perimedullary arteriovenous malformations (AVMs) that are found on the surface of the pia mater and are without a capillary bed between arterial and venous systems . These lesions are classified as type IV arteriovenous malformations of the spinal cord and are subcategorized into type IVa, type IVb, and type IVc by Anson and Spetzler . Type IVa lesions are low-flow AVFs supplied by a single anterior spinal artery (ASA) branch. Type IVb lesions are intermediate-flow fistulas with multiple arterial feeders. Type IVc lesions are high-flow fistulas supplied by several ASA or posterior spinal artery branches . Over time, these fistulas contribute to the development of myelopathic or radicular symptoms, secondary to abnormal vascular flow and venous congestion, resulting in arterial insufficiency . Treatment for FTAVFs includes endovascular embolization or open microsurgical resection . The treatment choice is made for each patient individually, depending on vascular characteristics and institutional resources . Importantly, lesions that are not completely obliterated surgically or endovascularly are at high risk of recurring with worsening of symptoms. In this report, we present the case of a 64-year-old male who presented to the hospital with lower back pain and proximal bilateral lower extremity weakness. Additionally, we provide a current literature review of reported cases of FTAVFs. A 64-year-old male of African descent presented to the emergency room with lower back pain and bilateral lower extremity weakness of several months’ duration. His only neurological deficit was 4/5 strength in the bilateral lower extremities, most notably proximally in the hip flexors and extensors. An outpatient MRI of the thoracic spine demonstrated cord edema from T7-conus medullaris and multiple flow voids consistent with intradural vessels overlying the spinal cord, which progressed to T1-L2 cord edema on the preoperative MRI scan . A spinal digital subtraction angiogram (DSA) demonstrated a perimedullary arteriovenous fistula spanning the L2-5 vertebrae supplied by the ASA originating from the artery of Adamkiewicz . Angiographic embolization of the lesion under general anesthesia was offered and scheduled. Somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) were monitored for the procedure. A 5-Fr Cobra tip femoral angiography sheath was introduced through the left femoral artery and advanced cranially through the descending aorta under fluoroscopy during the procedure. Contrast dye and overlay mapping were then utilized to identify the artery of Adamkiewicz, which originated at the level of the left L2 intervertebral foramen. Once the AVF was isolated on fluoroscopy, a preembolization trial with lidocaine and pentobarbital greatly diminished SSEPs in the lower extremities, with a similar loss of MEPs. Due to the loss of neuromonitoring signals, it was considered unsafe to proceed with the embolization, and open surgical treatment was planned. In situations where endovascular embolization results in loss of neuromonitoring, open approaches are preferred as occlusion of the feeding artery/arteries can be rapidly reversed by removing the temporary clip to avoid permanent detriment to the spinal cord, which may not be readily resolved during embolization procedures. Following team and patient discussions, microsurgical obliteration of the AVF through an open surgical approach was planned. Following the L2-4 laminectomy, the dura was longitudinally opened under microscopic visualization. After proper extradural hemostasis was achieved, the dura was opened longitudinally and tacked up to the laterally dissected paraspinal musculature. At this point, the cauda equina and filum terminale came into view. A prominent arterialized vein coursing alongside the filum was identified. Indocyanine green (ICG) video angiography confirmed arterialization of the vein at the lower end of L4 with contiguous vessels visualized going caudally and another traveling cephalad. A temporary clip was then applied just cephalad to the site of the AVF, and intraoperative angiography confirmed occlusion of the AVF. No signal change from baseline in neuromonitoring occurred. A permanent clip was then deployed cephalad to the first clip, followed by bipolar cauterization of the filum terminale between the two micro-vascular clips . The filum terminale was divided, and adequate closure was then achieved in a multilayer fashion. No surgical specimen was sent for pathologic diagnosis. The patient tolerated the procedure well and his lower extremity weakness was mildly improved compared to presurgical assessment. Postoperative spinal angiography displayed resolution of the FTAVF. Ten days following discharge, while in acute rehab, the patient experienced severe shortness of breath and was diagnosed with a saddle pulmonary embolism. Interventional thrombectomy was attempted and successful. A right lower extremity deep venous thrombosis (DVT) was identified with compression ultrasonography (US). Due to contraindications for antiplatelets and anticoagulants, an inferior vena cava (IVC) filter was placed. The patient was stabilized and discharged to subacute rehabilitation. Here, we present a case of a 64-year-old male patient presented with myelopathic symptoms of the lower extremities. The patient’s symptoms had quickly progressed from LBP to lower extremity pain and weakness, for which an MRI with and without contrast of the lumbar spine was appropriately performed, demonstrating spinal cord edema from T1-L2. Further investigation revealed a FTAVF at the level of L2-L5, originating from the artery of Adamkiewicz. Endovascular intervention was planned. However, following changes in neuromonitoring during the endovascular approach, the patient underwent successful open surgical intervention. Spinal AVMs are rare tortuous vascular lesions that often arise in pediatric populations . In 1987, Rosenblum et al. proposed a four-tier classification system for spinal AV shunts . In 1992, Anson and Spetzler further developed the system by adding subclassifications for type IV lesions (Table 1 ) . The lesion in the present case fits with a type IVa AV shunt . These lesions are low-flow, high-pressure systems that are often unstable and unpredictable. Due to the low flow in this system, ischemia can occur in the supplied tissue, a condition known as "Foix-Alajouanine syndrome" or "subacute necrotizing myelopathy." This involves progressive congestive ischemia of the spinal cord, which develops over months or years . Progressive myelopathy, radiculopathy, LBP, and bladder or bowel incontinence may also occur during the course of the disease. Due to the high pressure of this system, these lesions are vulnerable to rupture, resulting in hemorrhaging into the subarachnoid space. Rapid, excruciating back pain is often the first symptom, classically referred to as “Coup de poignard of Michon" . Efficient diagnosis and treatment are crucial to avoid catastrophic outcomes in these patients, which may involve permanent damage to the spinal cord and possibly death. In cases of FTAVFs, the main cause of neurological symptoms is unlikely to be due to direct ischemia or compression of the AVF on the FT or adjacent nerve roots. The cauda equina typically has adequate space to maneuver and the FT rarely carries any meaningful neurologic signals. The symptoms are thought to be primarily due to the venous congestion caused by the AVF, affecting the levels of cephalad to the fistula, and can cause myelopathic or radicular symptoms . On MRI, venous congestion is visualized in the form of spinal cord edema at the spinal levels, where congestion has impacted normal vascular dynamics . Importantly, this edema, and presumably the venous stasis, is typically improved or eliminated when FTAVFs are promptly treated . Many patients affected by FTAVFs also present with lumbar spinal stenosis, leading some to hypothesize that longstanding neural compression and inflammation can contribute to AVF formation . In the cases indexed in this literature review, 17 cases reported the presence of lumbar spinal stenosis (nine cases reported the absence of lumbar spinal stenosis and 32 cases failed to report the absence or presence of stenosis). The presence of concurrent lumbar stenosis has the potential to mask the true cause of symptoms, especially when symptoms are primarily radicular, causing a delay in diagnosis. Treatment for FTAVFs may include surgical, endovascular, or radiotherapeutic management. The surgical approach has previously been established as the modality of choice, with the first successful treatment in 1916 . This approach involves occlusion of the receiving vein of the shunt, with definitive interruption of other spinal draining veins. This is crucial for successful treatment, as occlusion of arterial feeders may result in re-establishment of the fistula via recruitment of new arterial feeders, which can lead to relapsing symptoms . Surgical management has been shown to be the most definitive treatment . However, endovascular treatment has recently seen a surge in popularity in treating spinal AVFs . Many institutions utilize endovascular techniques as first-line treatment as it is less invasive. While no difference has been seen when comparing complication rates between surgical and endovascular management for spinal AVFs, embolization is associated with a much higher failure rate, with patients often having to return for open surgery or repeat endovascular embolization . Finally, stereotactic radiosurgery has also been described in the literature as a means to treat dural AVFs . However, it has not been established as a mode of treatment for perimedullary AVFs, and with the availability of other effective treatment options, radiosurgery is currently not recommended as a management option in most AVF cases . We indexed and reviewed 24 articles with 59 cases in the literature that reported FTAVFs with either progressive myelopathy and/or radiculopathy. The identified feeding vessel(s) and subsequent draining vein(s), chosen treatment options, complications, and outcomes are shown in Table 2 . The patients' ages ranged from 3 to 84 years, with 38 males, nine females, and two unidentified. FTAVFs were more common in males, which is consistent with previously published literature . We compared the approach of treating AVFs (for which both endovascular and microsurgical approaches have been frequently utilized) by observing outcomes and intraoperative or postoperative complications. Both approaches offered positive outcomes, resulting in improvement, if not resolution of symptoms in a majority of cases. However, in previously reported cases of FTAVF, endovascular treatment was associated with more complications (46.7%), with failed embolization being the reported complication in all cases, requiring repeat embolization or subsequent microsurgical intervention. There were two cases of microsurgical complications in which patients experienced worsening urinary symptoms. Cases treated with microsurgery reported higher success rates with complete resolution being identified in 14 of the 59 cases. Compared to endovascular approaches which had no cases reporting complete symptom resolution. Finally, microsurgical management reported two cases where symptoms were unchanged, compared to one case that was approached endovascularly. This case demonstrates the importance of early identification and treatment of AVFs, as well as the importance of a multidisciplinary therapeutic approach. In this case, endovascular embolization was attempted; however, it was aborted due to loss of neuromonitoring signal, and open surgical management was scheduled. Successful treatment was achieved with microsurgery, with improvement immediately postoperatively. While endovascular management is often highly successful in treating FTAVFs, surgeons should be prepared for microsurgical treatment if embolization fails or is unsafe to proceed. | Clinical case | biomedical | en | 0.999998 |
PMC11697502 | Arteriovenous fistulas (AVFs) of the filum terminale (FTAVFs) are rare vascular malformations that can present with symptoms ranging from low back pain (LBP) to severe radiculopathy . Overall, vascular malformations of the spine are relatively rare (3% of all spinal arteriovenous shunts), with lesions occurring caudal to the conus medullaris infrequently observed . FTAVFs are perimedullary arteriovenous malformations (AVMs) that are found on the surface of the pia mater and are without a capillary bed between arterial and venous systems . These lesions are classified as type IV arteriovenous malformations of the spinal cord and are subcategorized into type IVa, type IVb, and type IVc by Anson and Spetzler . Type IVa lesions are low-flow AVFs supplied by a single anterior spinal artery (ASA) branch. Type IVb lesions are intermediate-flow fistulas with multiple arterial feeders. Type IVc lesions are high-flow fistulas supplied by several ASA or posterior spinal artery branches . Over time, these fistulas contribute to the development of myelopathic or radicular symptoms, secondary to abnormal vascular flow and venous congestion, resulting in arterial insufficiency . Treatment for FTAVFs includes endovascular embolization or open microsurgical resection . The treatment choice is made for each patient individually, depending on vascular characteristics and institutional resources . Importantly, lesions that are not completely obliterated surgically or endovascularly are at high risk of recurring with worsening of symptoms. In this report, we present the case of a 64-year-old male who presented to the hospital with lower back pain and proximal bilateral lower extremity weakness. Additionally, we provide a current literature review of reported cases of FTAVFs. A 64-year-old male of African descent presented to the emergency room with lower back pain and bilateral lower extremity weakness of several months’ duration. His only neurological deficit was 4/5 strength in the bilateral lower extremities, most notably proximally in the hip flexors and extensors. An outpatient MRI of the thoracic spine demonstrated cord edema from T7-conus medullaris and multiple flow voids consistent with intradural vessels overlying the spinal cord, which progressed to T1-L2 cord edema on the preoperative MRI scan . A spinal digital subtraction angiogram (DSA) demonstrated a perimedullary arteriovenous fistula spanning the L2-5 vertebrae supplied by the ASA originating from the artery of Adamkiewicz . Angiographic embolization of the lesion under general anesthesia was offered and scheduled. Somatosensory evoked potentials (SSEPs) and motor evoked potentials (MEPs) were monitored for the procedure. A 5-Fr Cobra tip femoral angiography sheath was introduced through the left femoral artery and advanced cranially through the descending aorta under fluoroscopy during the procedure. Contrast dye and overlay mapping were then utilized to identify the artery of Adamkiewicz, which originated at the level of the left L2 intervertebral foramen. Once the AVF was isolated on fluoroscopy, a preembolization trial with lidocaine and pentobarbital greatly diminished SSEPs in the lower extremities, with a similar loss of MEPs. Due to the loss of neuromonitoring signals, it was considered unsafe to proceed with the embolization, and open surgical treatment was planned. In situations where endovascular embolization results in loss of neuromonitoring, open approaches are preferred as occlusion of the feeding artery/arteries can be rapidly reversed by removing the temporary clip to avoid permanent detriment to the spinal cord, which may not be readily resolved during embolization procedures. Following team and patient discussions, microsurgical obliteration of the AVF through an open surgical approach was planned. Following the L2-4 laminectomy, the dura was longitudinally opened under microscopic visualization. After proper extradural hemostasis was achieved, the dura was opened longitudinally and tacked up to the laterally dissected paraspinal musculature. At this point, the cauda equina and filum terminale came into view. A prominent arterialized vein coursing alongside the filum was identified. Indocyanine green (ICG) video angiography confirmed arterialization of the vein at the lower end of L4 with contiguous vessels visualized going caudally and another traveling cephalad. A temporary clip was then applied just cephalad to the site of the AVF, and intraoperative angiography confirmed occlusion of the AVF. No signal change from baseline in neuromonitoring occurred. A permanent clip was then deployed cephalad to the first clip, followed by bipolar cauterization of the filum terminale between the two micro-vascular clips . The filum terminale was divided, and adequate closure was then achieved in a multilayer fashion. No surgical specimen was sent for pathologic diagnosis. The patient tolerated the procedure well and his lower extremity weakness was mildly improved compared to presurgical assessment. Postoperative spinal angiography displayed resolution of the FTAVF. Ten days following discharge, while in acute rehab, the patient experienced severe shortness of breath and was diagnosed with a saddle pulmonary embolism. Interventional thrombectomy was attempted and successful. A right lower extremity deep venous thrombosis (DVT) was identified with compression ultrasonography (US). Due to contraindications for antiplatelets and anticoagulants, an inferior vena cava (IVC) filter was placed. The patient was stabilized and discharged to subacute rehabilitation. Here, we present a case of a 64-year-old male patient presented with myelopathic symptoms of the lower extremities. The patient’s symptoms had quickly progressed from LBP to lower extremity pain and weakness, for which an MRI with and without contrast of the lumbar spine was appropriately performed, demonstrating spinal cord edema from T1-L2. Further investigation revealed a FTAVF at the level of L2-L5, originating from the artery of Adamkiewicz. Endovascular intervention was planned. However, following changes in neuromonitoring during the endovascular approach, the patient underwent successful open surgical intervention. Spinal AVMs are rare tortuous vascular lesions that often arise in pediatric populations . In 1987, Rosenblum et al. proposed a four-tier classification system for spinal AV shunts . In 1992, Anson and Spetzler further developed the system by adding subclassifications for type IV lesions (Table 1 ) . The lesion in the present case fits with a type IVa AV shunt . These lesions are low-flow, high-pressure systems that are often unstable and unpredictable. Due to the low flow in this system, ischemia can occur in the supplied tissue, a condition known as "Foix-Alajouanine syndrome" or "subacute necrotizing myelopathy." This involves progressive congestive ischemia of the spinal cord, which develops over months or years . Progressive myelopathy, radiculopathy, LBP, and bladder or bowel incontinence may also occur during the course of the disease. Due to the high pressure of this system, these lesions are vulnerable to rupture, resulting in hemorrhaging into the subarachnoid space. Rapid, excruciating back pain is often the first symptom, classically referred to as “Coup de poignard of Michon" . Efficient diagnosis and treatment are crucial to avoid catastrophic outcomes in these patients, which may involve permanent damage to the spinal cord and possibly death. In cases of FTAVFs, the main cause of neurological symptoms is unlikely to be due to direct ischemia or compression of the AVF on the FT or adjacent nerve roots. The cauda equina typically has adequate space to maneuver and the FT rarely carries any meaningful neurologic signals. The symptoms are thought to be primarily due to the venous congestion caused by the AVF, affecting the levels of cephalad to the fistula, and can cause myelopathic or radicular symptoms . On MRI, venous congestion is visualized in the form of spinal cord edema at the spinal levels, where congestion has impacted normal vascular dynamics . Importantly, this edema, and presumably the venous stasis, is typically improved or eliminated when FTAVFs are promptly treated . Many patients affected by FTAVFs also present with lumbar spinal stenosis, leading some to hypothesize that longstanding neural compression and inflammation can contribute to AVF formation . In the cases indexed in this literature review, 17 cases reported the presence of lumbar spinal stenosis (nine cases reported the absence of lumbar spinal stenosis and 32 cases failed to report the absence or presence of stenosis). The presence of concurrent lumbar stenosis has the potential to mask the true cause of symptoms, especially when symptoms are primarily radicular, causing a delay in diagnosis. Treatment for FTAVFs may include surgical, endovascular, or radiotherapeutic management. The surgical approach has previously been established as the modality of choice, with the first successful treatment in 1916 . This approach involves occlusion of the receiving vein of the shunt, with definitive interruption of other spinal draining veins. This is crucial for successful treatment, as occlusion of arterial feeders may result in re-establishment of the fistula via recruitment of new arterial feeders, which can lead to relapsing symptoms . Surgical management has been shown to be the most definitive treatment . However, endovascular treatment has recently seen a surge in popularity in treating spinal AVFs . Many institutions utilize endovascular techniques as first-line treatment as it is less invasive. While no difference has been seen when comparing complication rates between surgical and endovascular management for spinal AVFs, embolization is associated with a much higher failure rate, with patients often having to return for open surgery or repeat endovascular embolization . Finally, stereotactic radiosurgery has also been described in the literature as a means to treat dural AVFs . However, it has not been established as a mode of treatment for perimedullary AVFs, and with the availability of other effective treatment options, radiosurgery is currently not recommended as a management option in most AVF cases . We indexed and reviewed 24 articles with 59 cases in the literature that reported FTAVFs with either progressive myelopathy and/or radiculopathy. The identified feeding vessel(s) and subsequent draining vein(s), chosen treatment options, complications, and outcomes are shown in Table 2 . The patients' ages ranged from 3 to 84 years, with 38 males, nine females, and two unidentified. FTAVFs were more common in males, which is consistent with previously published literature . We compared the approach of treating AVFs (for which both endovascular and microsurgical approaches have been frequently utilized) by observing outcomes and intraoperative or postoperative complications. Both approaches offered positive outcomes, resulting in improvement, if not resolution of symptoms in a majority of cases. However, in previously reported cases of FTAVF, endovascular treatment was associated with more complications (46.7%), with failed embolization being the reported complication in all cases, requiring repeat embolization or subsequent microsurgical intervention. There were two cases of microsurgical complications in which patients experienced worsening urinary symptoms. Cases treated with microsurgery reported higher success rates with complete resolution being identified in 14 of the 59 cases. Compared to endovascular approaches which had no cases reporting complete symptom resolution. Finally, microsurgical management reported two cases where symptoms were unchanged, compared to one case that was approached endovascularly. This case demonstrates the importance of early identification and treatment of AVFs, as well as the importance of a multidisciplinary therapeutic approach. In this case, endovascular embolization was attempted; however, it was aborted due to loss of neuromonitoring signal, and open surgical management was scheduled. Successful treatment was achieved with microsurgery, with improvement immediately postoperatively. While endovascular management is often highly successful in treating FTAVFs, surgeons should be prepared for microsurgical treatment if embolization fails or is unsafe to proceed. | Clinical case | biomedical | en | 0.999998 |
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