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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 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697514 | Central pancreatectomy has emerged as an effective therapeutic alternative for the management of benign and low-grade pancreatic tumors, especially in cases where the preservation of pancreatic function is crucial, and minimizing morbidity associated with more radical resections, such as distal pancreatectomy or pancreatoduodenectomy, is desired . Unlike these traditional techniques, central pancreatectomy allows for the resection of localized neoplasms without significantly compromising the surrounding pancreatic tissue, resulting in a reduced risk of postoperative pancreatic insufficiency . Recent studies support central pancreatectomy as a valid therapeutic option in selected clinical contexts, where multidisciplinary preoperative evaluation plays a fundamental role in case selection. This article presents a clinical case of central pancreatectomy to contribute to the understanding of its role as a therapeutic option in the treatment of low-grade pancreatic tumors and its impact on pancreatic tissue preservation. A 45-year-old female patient with a history of conversion from sleeve gastrectomy to Roux-en-Y gastric bypass three years ago due to gastroesophageal reflux disease (GERD) presented with a pancreatic cystic lesion found incidentally on abdominal ultrasound screening . Further investigation with magnetic resonance imaging (MRI) revealed a 20 mm cystic lesion in the neck of the pancreas without features of malignancy . Endosonography showed no findings suggestive of aggressiveness. Pancreatic fine-needle aspiration (FNA) was performed (Table 1 ), with citrine-colored fluid aspirated and carcinoembryonic antigen (CEA) < 1.8 ng/mL. The biochemical analysis of the fluid showed amylase of 144 U/L; glucose of 102 mg/dL; immunohistochemistry, chromogranin A diffusely positive in neoplastic cells; synaptophysin, diffusely positive in neoplastic cells; and Ki-67, proliferation index estimated at <1%, consistent with well-differentiated grade 1 neuroendocrine tumor (G1 NET). Preoperative laboratory tests were performed, showing serum chromogranin A within the normal reference range (Table 2 ). PET-CT with octreotide showed uptake in the pancreas with no other lesions. Given the suspicion of a neuroendocrine pancreatic neoplasm, the case was discussed in a clinical committee, and an open central pancreatectomy was decided. The surgery was performed through a midline laparotomy, with the opening and section of the gastrocolic ligament, providing access to the lesser sac and full exposure of the pancreas. Macroscopically, a soft pancreas with a well-defined, partially exophytic cystic lesion in the neck, approximately 20 mm in its largest diameter, was identified, involving almost the entire thickness of the pancreatic parenchyma . The lymph node dissection of group 8 was performed, along with the dissection of the common hepatic artery and splenic artery. The dissection of the pancreatic groove to the left of the mesenteric vessels allowed the creation of a retro-pancreatic tunnel without complications. To the left, the splenic vein was identified in its usual position. The tunnel was completed using blunt dissection and an esophageal retractor to encircle the pancreatic body, achieving wide proximal and distal margins . A macroscopic view revealed a well-defined, partially exophytic cystic neoplasm located in the neck of the pancreas. The pancreatic neck was fully exposed, ensuring wide distal and proximal margins. The transection of the pancreatic neck was performed using an Endo GIA (Covidien, Dublin, Ireland) 60 mm purple cartridge, and distal pancreas resection was completed with monopolar energy . The Wirsung duct was identified with a diameter of approximately 2-3 mm . The jejunum was transected 20 cm distal to the previous entero-entero anastomosis of the gastric bypass. A transmesocolic loop was brought up, and a Blumgart pancreatojejunostomy was created with 10 separate duct-to-mucosa Prolene 5-0 stitches . A side-to-side mechanical entero-entero anastomosis was performed. Two Blake drains were placed in the pancreatic bed, with distal ends adjacent to the pancreatic stump and exteriorized through the right flank. On postoperative day 4, both drains had minimal output (drain I, 10 cc; drain II, 59 cc) with amylase levels of 5878 and 59 mg/dL, respectively (Table 3 ). Drain II was removed, and the patient was discharged on postoperative day 5 due to favorable clinical progress. She was evaluated eight days post-discharge; drain I output was 3-5 cc/day, leading to its removal. Biopsy confirmed a well-differentiated 2.1 cm G1 neuroendocrine tumor. Surgical margins were negative, with no vascular, lymphatic, or perineural invasion (pT2N0). At the five-month follow-up, the patient was asymptomatic, with a control abdominal PET-CT showing no abnormalities. Traditional approaches, such as distal pancreatectomy and pancreatoduodenectomy, involve more extensive resections, which may result in a higher risk of postoperative complications, including diabetes and malabsorption . Authors such as Iacono et al. support the idea that central pancreatectomy may be superior to distal pancreatectomy in certain contexts, particularly for patients with benign or low-grade tumors. Central pancreatectomy offers greater pancreatic tissue preservation and a lower rate of severe complications compared to distal pancreatectomy, making it the preferred surgical option in selected cases . The choice of surgical technique should consider not only the type of tumor but also the patient's clinical characteristics and the surgical context. Multidisciplinary clinical evaluation is essential for decision-making, where surgical planning plays a fundamental role. In terms of pancreatic function preservation, a recent study by Lee et al. directly compared central pancreatectomy, distal pancreatectomy, and duodenopancreatectomy. Central pancreatectomy demonstrated significant advantages in terms of pancreatic functional preservation, with favorable long-term outcomes not only for pancreatic function but also in preserving pancreatic mass, which ultimately translates into a lower incidence of postoperative diabetes and an improved quality of life for patients . Regarding the effectiveness and safety of central pancreatectomy, a recent systematic review and meta-analysis established its feasibility for both open and minimally invasive techniques. Although minimally invasive techniques offer additional benefits in terms of reducing surgical trauma, recovery time, and hospital stay, central pancreatectomy remains effective in open surgery . The adoption of minimally invasive techniques developed in recent years represents a current challenge, with laparoscopic approaches being a safe technique and an important advancement in surgical practice . Despite the numerous advantages of central pancreatectomy, the technique requires a high level of skill and experience from the surgeon, which may limit its application in centers with less experience in pancreatic surgery. In our case, the surgical team had extensive experience in pancreatic surgery, enabling central pancreatectomy to be considered as a therapeutic option, with thorough preoperative evaluation and planning. We believe that continuous training in minimally invasive techniques and the establishment of standardized protocols play a fundamental role in improving surgical outcomes in these cases. The reviewed studies support central pancreatectomy as a valid therapeutic option and, in certain cases, a preferred choice, particularly with the current advancements in minimally invasive techniques. | Clinical case | clinical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11697674 | Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive lysosomal storage disease (LSD) linked to pathogenic variants in IDUA gene. IDUA codes for the α-L-iduronidase enzyme and its deficit leads to lysosomal storage of glycosaminoglycans dermatan sulfate and heparan sulfate. Clinical features are variable, ranging from a severe form with onset before 1 year, to milder forms with later onset: Hurler-Scheie and Scheie types . The incidence of this pathology is estimated at 1 in 100,000 live births for Hurler type to 1 in 800,000 for Scheie type . In the majority of cases of Hurler syndrome, clinical signs appear after birth, and neonatal signs are rare. These clinical signs include musculoskeletal abnormalities (short stature, multiple dysostosis, thoraco-lumbar kyphosis), progressive thickening of facial features (protruding frontal bones, low nasal root with broad tip and anteverted nostrils, round cheeks, thickened lips), cardiomyopathy and valvular anomalies, sensorineural deafness, enlarged tonsils and adenoids. Developmental delay, particularly in speech, typically arises between 12 and 24 months, accompanied by progressive cognitive and sensory decline. Other manifestations include organomegaly, hernia, hirsutism, hydrocephalus, diffuse corneal . The first specific clinical signs only appear after a few months of life, linked to progressive lysosomal overload. MPS I with prenatal visceral presentation is particularly rare. While the combination of hepatosplenomegaly and coarse facial features is highly suggestive of a lysosomal disease in children, these signs have never been reported prenatally in MPS I according to our literature search. Prenatal diagnosis is performed mainly on family history, and a few cases of hydrops have been described, although this is much less frequent than in other lysosomal pathologies . We present what is, to our knowledge, the first case of prenatal MPS I diagnosed based on the presence of antenatal signs of overload, including hepatosplenomegaly and coarse facial features, as early as the second trimester of pregnancy. This diagnosis was confirmed through biochemical and genetic testing. A pregnant woman was referred by a partner center at 26.5 gestational weeks (GW) to the prenatal diagnostic center of Rennes (France). This was her second pregnancy following a previous delivery of a healthy infant. The couple was not consanguineous, their phenotype was normal, and they had no significant personal or family histories. Morphologic ultrasound examination conducted during the first trimester revealed a normal nuchal translucency of 2 mm (1.06 Multiple of Median (MoM), Crown-rump length: 77.6 mm) and a single umbilical artery. Additionally, vaginal bleeding related to a placental hematoma was observed. Ultrasound examination at 24.0 GW revealed hepatosplenomegaly and dysmorphic features, including a long and broad philtrum , as well as a few echogenic spots in the liver, spleen, peritoneum, and thymus . The cytomegalovirus (CMV) profile indicated long-standing immunity. Amniocentesis was performed at 26.7 GW for a chromosomal microarray analysis (CMA) and trio whole-exome sequencing (WES) examination. CMA was normal, but two likely pathogenic variants (class 4 according to ACMG classification) were identified by WES on IDUA gene: NM_000203.5:c.[590G > A]; [1139dup]; NP_000194.2:p.[(Gly197Asp)]; [(Leu381Alafs*18)] (Table 1 ). The presence of these two variants in compound heterozygous state raised suspicion of MPS I. No other variants of interest were identified. MPS I was next confirmed by enzymatic analysis in cultured amniocytes, with evidence of a deficiency in α-L-iduronidase activity (Table 1 ). Fig. 1 Morphological studies on Fetal Ultrasonic image at 28 GW. (A) Hepatosplenomegaly (measurements over + 2 SD). (B) Fetal profile with blue arrow pointing to the broad philtrum. (C) Peritoneal echogenic punctuation above the stomach (blue circle) Table 1 Biology results: genetic analysis results; α-L-iduronidase enzyme activity in cultured amniocytes Whole exome and targeted sequencing (fetal DNA) Allele 1: NM_000203.5(IDUA): c.[494-57G > A;590 G > A], inherited from the mother Allele 2: NM_000203.5(IDUA): c.1139dup, inherited from the father α-L-iduronidase enzyme activity in cultured amniocytes. Measured value Laboratory control α-L-iduronidase activity 0.3 µkat/kg 33.8 µkat/kg Hexosaminidase activity (control enzyme) 827 µkat/kg 1687 µkat/kg The couple elected for a medical termination of pregnancy, which was carried out at 35 GW. In France, pregnancy terminations for medical reasons are permitted until its term when a disease of particular severity is diagnosed in the fetus and is incurable at the time of diagnosis, as is the case for severe MPS I. At the parents’ request, only an external examination was performed. The infant’s birth biometrics were as follows: weight, 3140 g (94th percentile); length, 48 cm (80th percentile); occipitofrontal circumference 34 cm (83rd percentile). External examination confirmed hepatomegaly, with hepatic overhang of 4 cm and dysmorphic features, including coarse facial features, bulging or forward-projecting philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, large, badly hemmed ears with bulky lobes, bulging eyes and marked suborbital folds . Placenta analysis showed single umbilical artery and micro vacuolized appearance of Hofbauer cells, compatible with lysosomal overload . Fig. 2 Post-termination studies. (A) External examination post-medical abortion at 35 GW; coarse facial features with broad philtrum, broad nasal tip, micrognathia, thin upper lip vermilion, hypertelorism, plagiocephaly, microretrognatism, full and drooping cheeks, bulging or forward-projecting philtrum, large, badly hemmed ears with bulky lobes, bulging eyes, marked suborbital folds. (B) Optical microscopic image showing vacuolization of Hofbauer cells (H&E stain; ×100) Given that the substitution variant (c.590G > A) is located at the canonical acceptor site of exon 6, we investigated the possible splicing impact. This was achieved through the use of a Minigene assay (as detailed in Gaildrat et al. ). In this construct, the c.590G > A variant is responsible for the appearance of a major transcript with complete retention of intron 5, as well as a few alternative transcripts with retention of the last 22, 25 and 28 nucleotides of intron 5. Complete retention of intron 5 leads to a premature stop codon, p.(Phe198Valfs*127). A second construction, using a longer sequence, revealed the complementary role of a 2nd rare variant (c.494-57G > A), in cis of the c.590G > A variant, also altering splicing. This variant creates an additional cryptic splicing site, resulting in the retention of the final 55 nucleotides of intron 4. This, in turn, leads to the formation of a premature stop codon (p.(Arg166Valfs*18)).)). These functional studies (enzyme activity and transcript studies) allowed us to reclassify these variants as pathogenic (class 5 according to ACMG classification). The etiology of fetal hepatosplenomegaly is multifactorial. It is crucial to determine the underlying cause, as some diagnoses are amenable to treatment or may have subsequent gestational implications (e.g., neonatal hemochromatosis). Major contributors include fetal infections, summarized by the acronym TORCH (Toxoplasmosis, Other infections (Parvovirus, Syphilis, Zika, Chickenpox, HIV), Rubella, Cytomegalovirus, Herpes Simplex). Hepatomegaly may also result from fetal anemia or hepatic tumor, such as hepatoblastoma, hemangiomas, mesenchymal hamartomas… . Among constitutional genetic causes, trisomy 21 is responsible in 5–10% of cases for transient abnormal myelopoiesis , a pre-leukemic syndrome which is responsible for hepatomegaly in fetuses and newborns . Wiedemann-Beckwith syndrome combines macroglossia, omphalocele, polyhydramnios, macrosomia and visceromegaly with hepatosplenomegaly . Lysosomal storage diseases (LSD) are a classic yet rare cause of hepatosplenomegaly, with few cases arising during the prenatal period and often associated with others signs like hydrops fetalis and/or fetal ascitis. Indeed, hydrops fetalis is the most frequent presentation indicator of lysosomal pathology, while associated antenatal hepatomegaly is seldom documented. In a context of nonimmune hydrops fetalis, the estimated prevalence of LSD is between 1.3 and 8% [ 10 – 12 ] with the most frequently diagnosed conditions (> 70% of cases) being mucopolysaccharidosis type VII , galactosialidosis and sialidosis , infantile free sialic acid storage disease , Gaucher disease , and GM1 gangliosidosis . In addition, a significant number of other lysosomal pathologies have been identified at least once as a cause of hydrops fetalis , including, but rarely, a few cases of MPS I. Another way LSD may manifest during the prenatal period is chondrodysplasia punctata, as observed in mucolipidosis type II and GM1 gangliosidosis , or multiple dysostosis, as in mucolipidosis type II . In MPS I, the earliest signs typically manifest after birth, and are often present from the first month of life but are not necessarily specific: breathing difficulties, otitis media, hearing loss, hernias, hypotonia, feeding difficulties . Consequently, the diagnosis is often made later, except in countries where newborn screening has been introduced . In the MPS I registry study of 115 individuals with Hurler form with no family history, the median age at diagnosis was 0.8 years . The most specific signs are kyphosis, corneal opacity, characteristic coarse facial features and hepatomegaly. However, hepatomegaly is classically one of the later signs, present in 61.4% of patients and detected after a median of 9.8 months in this study . In prenatal care, only a few isolated cases of MPS I with hydrops have been published , with most prenatal diagnoses being made because of family history. In France, pregnancy monitoring includes 3 systematic ultrasounds (first 9–11 WG, second 20–22 WG and third trimester 30–32 WG). It is challenging to diagnose lysosomal pathology prior to the second trimester ultrasound, given that the initial ultrasound signs were documented in the literature at this gestational age. Here, the fetus exhibited indications of visceral overload from the prenatal period. This severe expression of the pathology is consistent with genetic studies that identified two variants resulting in premature stop codons, and therefore probably no mRNA, targeted by non-mediated decay. To date, over 300 pathogenic variants have been described and reported in the IDUA gene . These include some over-represented variants (e.g., p.Trp402Ter, p.Gln70Ter, p.Pro533Arg) as well as more complex and difficult to interpret pseudodeficient alleles (e.g., p.His82Gln, p.Ala300Thr) . In severe forms, > 79% of genotypes include at least one nonsense/splice/frameshift variant; however, in many cases (i.e., > 20%), the combination of variants is unique to a single patient . The enzymatic studies corroborate this finding, with a marked decrease in α-L-iduronidase activity. Given the grave ramifications of this disease and the risk of recurrence (25%) for future pregnancies, a prenatal or pre-implantation diagnosis can be offered to the couple. From a genetic standpoint, it is noteworthy that only the c.590G > A variant of the c.[494-57G > A;590 G > A] complex allele was identified during the WES. The c.494-57G > A variant is located more than 50 bp from the intron-exon junction and was therefore not covered by WES (the presence of this second variant was confirmed by targeted sequencing in the fetus (Table 1 )). However, as it is upstream of the c.590 G > A variant, the c.494-57G > A has probably the greatest biological impact, although another substitution (c.589G > A p.(Gly197Ser)) on the same codon as the first variant has already been reported as pathogenic . Without being associated with the c.590 G > A variant, the c.494-57G > A variant alone might not have been detected, and the diagnosis of MPS I might therefore have been delayed or not made at all. In the absence of any previous description of signs of prenatal visceral overload in MPS I, as reported in this case, it is unlikely that the pathology would have been sought by targeted enzymatic techniques, as has been done historically, and as was done here following the genetic suspicion. The advent of prenatal genomics will provide better coverage of these intronic variants and therefore improve diagnostic results . This also underlines the importance of histological analysis of the placenta (and the fetus when feasible) in instances of suspected lysosomal disease, as this can assist in the diagnostic process when a definitive diagnosis has not been reached during the prenatal period. Microscopically, macrophage overload is a constant feature in lysosomal storage disorder, with macrophages being particularly rich in lysosomes. Lysosomal overloading is identified by the presence of vacuoles in affected cells, for example in the placenta, and particularly in Hofbauer cells . Vacuoles may be present as early as the first trimester, though they may only be visible under electron microscopy. In some cases, the location and composition of the vacuoles can assist in formulating a diagnosis . The chorionic villi from the placenta of fetuses with MPS1 displayed a remarkable degree of vacuolation of stromal cells , with vacuoles being relatively scarce within the cytotrophoblast and occurred with greater regularity in fibroblasts and endothelial cells . This case illustrates the growing interest in prenatal studies at the exome or genome level for the diagnosis of rare genetic diseases, making it possible to broaden the clinical spectrum of these diseases, and to make informed decisions for the current pregnancy, in particular when ultrasound signs are not specific, and carrying out a prenatal diagnosis for subsequent pregnancies. | Clinical case | biomedical | en | 0.999996 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698543 | Hypokalemia-induced rhabdomyolysis caused by primary hyperaldosteronism is a rare occurrence. Primary hyperaldosteronism, also known as Conn's syndrome, is typically due to bilateral adrenal hyperplasia (BAH) or, less commonly, an adrenal adenoma. Hyperaldosteronism leads to sodium retention and potassium excretion. It mostly presents as hypertension, although a minority of patients may experience symptoms of hypokalemia, such as muscle weakness, cramps, and fatigue . A severe decrease in serum potassium levels can disrupt the skeletal muscle vascular dilation system, which results in ischemia and necrosis of the muscle fibers, leading to rhabdomyolysis. Rhabdomyolysis classically manifests as progressive weakness, fatigue, and dark urine due to the release of myoglobin and other toxic intracellular elements such as creatine kinase (CK) and lactic acid. Myoglobin has the potential to cause acute kidney injury (AKI), and in severe cases, rhabdomyolysis can also be fatal. More common causes of rhabdomyolysis include traumatic muscle injuries, exertion due to exercise or seizures, and alcohol abuse . In this case, the patient used a massage gun to relieve the soreness in her legs, the use of which has been reported to result in rhabdomyolysis . However, further investigation revealed a left-sided adrenal adenoma, which, after being surgically removed, led to the resolution of her symptoms, suggesting that the causative factor in this case was hyperaldosteronism, leading to hypokalemia. We present the case of a 37-year-old female with a prior history of hypertension, diabetes, and schizoaffective disorder. She was also a known case of chronic hypokalemia secondary to primary hyperaldosteronism. She presented to the Emergency Department (ED) with complaints of bilateral lower extremity weakness for seven days, along with fatigue. She had been using a massage gun extensively to alleviate the discomfort in her legs. A day before her presentation, she experienced extreme weakness and was unable to hold up her weight and fell on her lower back. She denied other symptoms like fever, dizziness, abdominal pain, cough, shortness of breath, or headache. However, a few nights ago, she experienced chest discomfort without pain and was unable to fall asleep. A year ago, during her pregnancy, she had multiple presentations with similar symptoms of weakness. Her lab results showed raised aldosterone levels (113 ng/dL, reference values < 3.0-23.2 ng/dL), decreased plasma renin levels (0.59 pg/mL/hour, reference values ≤33.2 pg/mL/hour), and decreased serum potassium levels (3.0 mmol/L, reference values 3.5-5.1 mmol/L), for which she received both IV and oral potassium chloride (KCl). She was discharged with a prescription for KCl supplements, which she had run out of a week prior to her ED visit. She had not obtained a refill due to her upcoming appointment with an endocrinologist. Blood work at her current presentation showed an initial serum potassium level of 2.6 mmol/L and a raised CK level (9,306 U/L, reference values 20-170 U/L). Blood pressure was 153/80 mmHg. EKG showed U waves . A computed tomography (CT) lumbar spine scan was done in the ED to evaluate the bilateral lower extremity weakness, which revealed a 3.3 cm low-density cystic mass arising from the left adrenal gland versus the superior pole of the left kidney . She received 3 L of normal saline (NS) in the ED and KCl three times. Her potassium level dropped to 1.9 mmol/L, and she received IV KCl twice and 80 mEq orally; however, her potassium further dropped to 1.7 mmol/L, and she was admitted to the stepdown unit (SDU). In the SDU, endocrinology was consulted, and the patient was started on D5-half NS with 40 mEq KCl and 100 mg spironolactone. Serum potassium remained low despite aggressive repletion, and CK levels continued to rise despite aggressive hydration and no further massage gun usage. CK levels rose to a maximum of 22,000 U/L and began to downtrend when potassium started to normalize in a sustained manner (Table 1 and Table 2 ). Her erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were minimally elevated, ruling out inflammatory myopathy. The patient was discharged once stable and had a follow-up with an endocrinologist and endocrine surgeon. A month later, she had a dedicated CT abdomen with contrast, which showed a 3.2 cm left adrenal nodule with precontrast, dynamic, and delayed phase imaging as 16, 81, and 36 Hounsfield units, respectively. The relative percent washout value was greater than 40% and was compatible with adenoma . The right adrenal gland was unremarkable. Her latest potassium level was 4.8 mmol/L with potassium supplementation and spironolactone. Laparoscopic adrenalectomy was then performed, after which her potassium and aldosterone levels returned to normal. Histopathology report further supported the diagnosis of an adrenal adenoma due to positive melanin A and calretinin, focal weak positive synaptophysin, and negative chromogranin and paired-box gene 8 (PAX8). After her discharge, she had no recurrence of her symptoms. Rhabdomyolysis is a pathological condition in which skeletal muscle breakdown leads to the release of muscle-breakdown products such as CK, myoglobin, lactic acid, and lactate dehydrogenase (LDH) into the bloodstream . The causes of rhabdomyolysis are typically categorized as physical and non-physical. Physical causes include crush syndrome in approximately 37% of cases, intense physical activity, e.g., strength training, which makes up about 38% of cases related to physical activity, and muscle exertion due to seizures . Non-physical causes include multiple factors such as chronic alcoholism, drugs like cocaine and amphetamines, medications like statins, infections, inflammatory myopathies, heat stroke, neuroleptic malignant syndrome (NMS), and genetic disorders of glycogen storage like McArdle's disease . During pregnancy, women are at risk of hypokalemia-induced rhabdomyolysis due to causes such as hyperemesis-induced hypokalemia and underlying distal renal tubular acidosis, which can be unmasked in pregnancy . There has also been a reported case of rhabdomyolysis following intravenous iron sucrose administration during pregnancy . Meanwhile, in non-pregnant adults, iron-dextran and ferric gluconate supplements have led to rhabdomyolysis . In this case, the patient had no history of anemia or iron supplementation during or after her pregnancy. She reported using a percussion massage gun to alleviate cramps and muscle weakness, the use of which has been attributed as a cause of rhabdomyolysis . However, the discovery of an adrenal adenoma and the subsequent resolution of her symptoms suggest that the adrenal pathology was most likely the causative factor. Rhabdomyolysis, the breakdown of muscle tissue, releases potassium into the bloodstream, leading to hyperkalemia; it also releases toxic substances like myoglobin, which can result in multi-organ failure, with AKI being the most serious complication. Increased levels of myoglobin can cause up to 40% of patients with rhabdomyolysis to develop acute renal failure . A commonly used clinical definition for rhabdomyolysis is CK levels almost five times the normal limit, and typically, CK levels >5,000 are correlated with severe muscle injury and AKI . This patient was diagnosed as having rhabdomyolysis due to extremely high CK levels (9,306 U/L) on presentation, which further rose to a maximum of 22,000 U/L. Rhabdomyolysis associated with hypokalemia is a rare presentation, as hyperkalemia is generally the expected outcome of muscle breakdown. Typically, rhabdomyolysis occurs when potassium levels fall below 2.0 mmol/L . Hypokalemia can be due to several causes; these include medications such as diuretics and laxatives, diarrhea, renal diseases like types I and II renal tubular acidosis, inadequate nutrition, and insulin overdose . Low potassium levels lead to ECG findings like T-wave and ST segment depression, QT-prolongation, and the appearance of a U-wave - potentially causing fatal cardiac arrhythmias . Other complications may include intestinal and respiratory paralysis . Hypokalemia usually presents as progressive muscle weakness, more commonly in the lower limbs, as seen in this patient, along with other symptoms such as fatigue, constipation, and palpitations . Another cause of hypokalemia is hormonal imbalance, particularly that of aldosterone. This can result from primary hyperaldosteronism, also known as Conn Syndrome, which may be caused by either an adrenal adenoma (30%) or BAH (60%) . Secondary hyperaldosteronism is usually due to hyperactivity of the renin-angiotensin-aldosterone system (RAAS), usually due to a renin-producing tumor. Excessive aldosterone causes sodium retention and potassium excretion due to the activation of mineralocorticoid receptors on renal cells, which then leads to sodium reabsorption via the epithelial sodium channels (ENaC) on the luminal side of the cortical collecting duct and potassium excretion via the sodium-potassium exchange pumps. Sodium reabsorption leads to water retention, which, alongside aldosterone's direct action of vasoconstriction, causes hypertension . In the majority of cases, potassium levels are within the normal range. Because hypokalemia is observed in only about 28.1% of patients with hyperaldosteronism, this case report highlights how unusual it is for hypokalemia to be severe enough to result in rhabdomyolysis . One proposed explanation for the connection between hypokalemia and rhabdomyolysis is that potassium plays a role in dilating arterioles in skeletal muscles, particularly during physical activity. This dilation is impaired when serum potassium levels are low, resulting in reduced blood flow and relative ischemia in the muscle fibers . Another theory suggests that hypokalemia inhibits the production and storage of glycogen within cells and disrupts normal ion movement across cell membranes . Given the vital role potassium plays in maintaining normal physiological functions like muscle contraction and normal heart rhythm, inpatient management of such patients is crucial to replete total body potassium stores and correct serum potassium levels to prevent them from developing critical illnesses such as muti-organ failure and AKI. Primary hyperaldosteronism leading to hypokalemia is a rare but important cause of rhabdomyolysis and should be considered as a differential when patients present with muscle weakness and lab findings consistent with rhabdomyolysis. Therefore, physicians must maintain a high degree of clinical suspicion for this diagnosis, especially in the setting of muscle weakness, elevated CK levels, and low serum potassium. Recognizing the potential link between hypokalemia and rhabdomyolysis is essential for guiding further investigation and ensuring appropriate management of affected patients. Early recognition and intervention can prevent serious complications, ultimately improving patient outcomes. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698544 | Craniosynostosis is a congenital condition in which one or more of the sutures in the skull fuse prematurely, restricting skull growth and leading to an abnormal head shape. These sutures are normally flexible joints that allow the skull to expand as the brain grows; however, when they fuse too early, the skull cannot grow in the affected areas, resulting in compensatory growth in other regions. Oxycephaly is a rare form of craniosynostosis that causes the skull to have a cone or tower-shaped appearance. It occurs due to the premature fusion of the coronal and sagittal sutures, which prevents the skull from growing normally in width . This condition is typically identified shortly after birth and is often treated with surgical intervention aimed at reducing pressure on the brain and correcting the abnormal skull shape. The management of craniosynostosis has seen significant advancements in recent years, with innovations in both surgical techniques and supportive care. Traditional open cranial vault remodeling, once the primary approach, has been refined to improve outcomes and reduce recovery time. If left untreated, oxycephaly can lead to developmental delays and blindness . We present this case to highlight key aspects of late-presenting multi-suture craniosynostosis and its management. A five-year-old girl, born preterm at 35 weeks via lower-segment cesarean section (LSCS) from a non-consanguineous marriage, had a birth weight of 1.7 kg. She presented with a history of frequently rubbing her right eye. Although her mother did not observe any signs of visual impairment, she had noted an abnormal head shape since birth. The child had no significant systemic history, and her developmental milestones were achieved on time without any delays. General examination revealed alert child with GCS 15. Physical examination revealed a high, peaked forehead and a shortened, pointed head shape indicative of oxycephaly . Notable craniofacial features included maxillary recession, a trapezoid-shaped skull with right facial scoliosis, bony nasal septal deviation to the left, and right brow asymmetry. The recorded anthropometric measurements included a head circumference of 44 cm (normal range: 49-51 cm), a weight of 26 kg (normal range: 15-23 kg), a height of 136 cm (normal range: 105-115 cm), and a calculated body mass index (BMI) of 14.1 kg/m² (normal range: 14-17 kg/m²). The ocular assessment revealed a best corrected visual acuity (BCVA) of 1/60 in the right eye and 6/6 in the left eye, with bilateral proptosis. The right eye exhibited defective color vision and generalized field depression. Fundus examination revealed a pale disc with peripapillary infarction in both eyes . CT brain imaging with 3D reconstruction confirmed pan-sutural craniosynostosis, showing a flattened forehead, prominent pre-coronal hump, and inner calvarial table scalloping, all indicative of raised intracranial pressure (ICP). Contrast-enhanced MRI (CEMRI) with MRV and MRA revealed normal brain architecture but severe optic nerve sheath edema. MRV demonstrated partial transverse sinus hypoplasia with collateral circulation & venous shunts, suggesting long-standing raised ICP . Genetic testing was performed and returned negative. The diagnosis was compressive optic neuropathy due to non-syndromic craniosynostosis (oxycephaly). Treatment involved bilateral frontal-orbital advancement and posterior vault remodeling to relieve optic nerve compression . Exposure keratitis was identified as an early postoperative complication, with signs observed on the first postoperative day, including mild conjunctival hyperemia, punctate epithelial erosions, and mild lagophthalmos. Management included the use of lubricating eye drops and ointment, along with a temporary tarsorrhaphy, which was removed after one month. These interventions effectively addressed the ocular surface concerns during the early postoperative period. The follow-up schedule for the study included weekly evaluations for the first month, followed by monthly visits for three months, and subsequently monitored every six months till date. Post-surgery, the patient's vision improved to 6/24 in her right eye at the end of one year follow-up . Craniosynostosis is a relatively rare condition that affects approximately 1 in 1000 infants . Craniosynostosis is a developmental disorder characterized by the premature fusion of cranial sutures, which restricts normal skull and brain growth. Typically, the sutures in an infant’s skull remain open to allow the skull to expand as the brain grows. However, early fusion results in restricted growth perpendicular to the fused sutures (Virchow's law), causing cranial deformities, increased intracranial pressure, and potential neurological deficits . This condition is due to abnormal development of the primitive mesoderm. Recent studies have highlighted a concerning rise in the occurrence of craniosynostoses, a medical condition where the skull sutures fuse prematurely. The increase in craniosynostosis cases is thought to result from both genetic and environmental factors . Environmental risks include fetal head constraint, abnormal fetal position, low amniotic fluid, exposure to teratogens, maternal smoking, and specific medications during pregnancy . About 20% of craniosynostosis cases have a genetic basis, often due to autosomal dominant FGFR (Fibroblast growth factor receptor) mutations-FGFR1 in Pfeiffer's syndrome and FGFR2 in Apert’s and Crouzon’s syndromes . Non-inherited mutations, as observed in our case, account for approximately 50% of cases. Craniosynostosis primarily affects the sagittal suture (60%), followed by the coronal (25%), metopic (15%), and lambdoid sutures (2%) . In our case, the patient presented with premature pansutural craniosynostosis, leading to a tower-shaped skull due to restricted transverse brain growth. The absence of developmental delay, focal neurological deficits, or feeding problems made this condition challenging to detect during infancy. Furthermore, measuring head circumference during routine pediatric vaccination visits can aid in the early detection of craniosynostosis. Regular vision screenings conducted by school teachers play a crucial role in identifying any problems at an early stage and preventing complications like amblyopia. Interdisciplinary team care is important for diagnosis and treatment. Ophthalmic manifestations of craniosynostosis include optic atrophy, exophthalmos, exotropia, nystagmus, and mental deficiency . Optic atrophy is one of the most concerning ocular consequences of craniosynostosis. It occurs due to increased intracranial pressure, mechanical traction, compression, and narrowing of the optic foramen . The occurrence of asymmetric vision loss may stem from disparate sizes of optic canals, as depicted in our case. The primary goals of treatment are to ensure normal brain development and achieve a cosmetically acceptable appearance. The optimal time for surgery is debated, but it is generally considered between six and twelve months of age . The type and extent of surgery depend on the patient's age and presentation. The options for surgical intervention include open craniotomy and reconstruction or an endoscopic procedure. Endoscopic intervention is more suitable until the age of 6 months when cranial bones are still flexible. After surgery, additional corrections with helmets may be needed for four to six months. After six months, open surgery is preferred due to bone stiffness as done in our case. In particular, frontal advancement open surgery is an effective surgical method for expanding the cranial vault, regardless of age . This procedure involves removing the fused sutures and reshaping the forehead, which can significantly reduce the pressure on the optic nerve. Ideally, surgery should be performed in the first year of life . In craniosynostosis surgery, specifically frontal orbital advancement combined with posterior vault remodeling, several factors regarding its benefits and potential complications must be considered. This combined approach addresses both anterior and posterior cranial vaults, facilitating balanced expansion to accommodate normal brain growth while significantly improving craniofacial aesthetics by correcting deformities and enhancing facial symmetry. Additionally, it reduces the risk of elevated intracranial pressure, thereby preventing neurodevelopmental complications. Despite the improved safety of craniosynostosis surgery, complications remain a concern . A study conducted by Esparza et al. analyzed the complications associated with the surgical treatment of craniosynostosis and craniofacial syndromes involving 306 transcranial procedures . The most frequent complication was postoperative hyperthermia, occurring in 13.17% of cases, followed by infections (8.10%), subcutaneous hematomas (6.08%), dural tears (5.06%), and cerebrospinal fluid leakage (2.7%). Notably, endoscopic-assisted osteotomies reported the lowest complication rate at 2.5%, while complete cranial vault remodeling had the highest rates of complications. Despite these complications, all cases were resolved without permanent deficits, highlighting the effectiveness of surgical interventions . Endoscopic correction offers certain advantages over open cranial vault reconstruction, including shorter surgery times, reduced blood loss, and quicker recovery periods, with fewer ICU and hospital stays. However, endoscopic techniques often require postoperative use of helmet-molding orthoses for several months to guide proper bone alignment and prevent suture refusion as the brain continues to grow. Both surgical approaches require long-term follow-up to monitor for late complications such as irregular bone contour, incomplete bone healing, or refusion of the sutures, which may necessitate reoperation. These considerations highlight the importance of tailored surgical planning and diligent postoperative care to optimize outcomes and minimize risks. However, even if the diagnosis is made at a later stage, the prognosis can be improved through intervention as seen in our case. The study by Gutierrez-Pineda F et al. demonstrated a 1% reoperation rate, a 95% success rate for achieving excellent aesthetic outcomes, and an 86% requirement for transfusions during procedures. Furthermore, the pooled complication rate was 2%, underscoring the minimal morbidity and highlighting the overall safety and efficacy of these surgical techniques . Fortunately, our patient experienced no serious complications post-surgery. Regular follow-ups are essential to monitor head growth, detect increased ICP, and identify any potential issues. Oxycephaly poses a serious health concern that has the potential to affect both vision and neurological impairment. It is crucial for medical professionals to meticulously screen children for this condition. However, with the aid of surgical procedures, the prognosis for children with oxycephaly has significantly improved. | Clinical case | biomedical | en | 0.999997 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11698615 | Cystic artery pseudoaneurysms are a rare entity causing hemodynamically significant and life-threatening hemorrhages that are usually secondary to acute cholecystitis . Other etiologies for the development of cystic artery pseudoaneurysms are pancreatitis, cholelithiasis, and trauma during cholecystectomy . The incidence of vascular injury during cholecystectomy is low (0.2-0.5%) and pseudoaneurysms associated with laparoscopic cholecystectomy generally arise from the right hepatic artery. The pathogenesis of cystic or hepatic artery pseudoaneurysms is thought to be related to inflammatory damage and weakening of the adventitia caused by cholecystitis or pancreatitis, which may be exacerbated by manipulation, clip application, or thermal injury . Complications of cystic artery pseudoaneurysms are serious and can include bleeding into the biliary system or peritoneum necessitating resuscitation and requiring prompt intervention . We present a case of an iatrogenic cystic artery pseudoaneurysm arising as a complication of transjugular liver biopsy (TJLB). TJLB is a widely performed and useful technique in patients with severe coagulopathy and/or severe ascites . TJLB is performed via a needle introduced through a hepatic vein, without causing a transcapsular injury, so any bleeding related to the procedure will drain back into the venous system. Since it was initially described in 1964, many large studies have shown it is a safe technique with complications reported between 0.6% and 20%, the most common major complications being intraperitoneal bleeding, vessel injury, or ventricular arrhythmia . In the present case, due to patient-specific anatomy, the biopsies were taken from an accessory hepatic vein resulting in a traumatic cystic artery pseudoaneurysm. A 52-year-old male was originally admitted with complaints of abdominal pain and chills. His past medical history includes alcoholic liver cirrhosis (model for end-stage liver disease {MELD}-Na 30, Child-Pugh Class C). He was being evaluated for liver transplantation. Interventional radiology was consulted for transjugular hepatic pressure measurements and liver biopsy. Pre-procedural lab work showed an international normalized ratio (INR) of 3.6, fibrinogen of 81 mg/dL, 67 platelets/µL, and hemoglobin of 11.6 g/dL. After the transfusion of two units of fresh frozen plasma and cryoprecipitate, the INR and fibrinogen improved to 2.7 and 152 mg/dL, respectively. At the start of the procedure, the right internal jugular vein was accessed under ultrasound guidance utilizing a micropuncture system (Bloomington, IN: Cook Medical), and a 10-french Check-Flo sheath (Bloomington, IN: Cook Medical) was placed. Through the sheath, a multipurpose angled catheter (Shibuya, Japan: Terumo) was used to access a hepatic vein. Multiple attempts were made to access the main right hepatic vein; however, this was not possible due to sharply angulated anatomy at the venous origin. Selective free hepatic venography was performed showing the catheter within an accessory right hepatic vein . At this point, a Fogarty balloon catheter (Irvine, CA: Edwards Lifesciences) was advanced into the accessory hepatic vein, and pressure recordings were obtained with a portosystemic gradient of 20 mmHg. Next, the Rösch-Uchida transjugular liver access set and Quick-Core Biopsy Needle (Bloomington, IN: Cook Medical) were placed within the accessory hepatic vein and two core needle biopsies were then taken through the system . Multiple venograms throughout the procedure, before and after the biopsy, showed that the sheath was persistently within the hepatic vein. After the removal of the sheaths, hemostasis was obtained at the internal jugular vein using manual compression. Post-procedurally, the patient’s hemoglobin steadily trended down from pre-procedural values of 11.6 g/dL to 6.4 g/dL despite transfusion of multiple units of packed red blood cells. Multiphasic computed tomography angiogram of the abdomen was performed which showed arterial phase contrast extravasation into the gallbladder lumen with pooling of contrast in the lumen on delayed phases . The patient was then taken back to the fluoroscopy suite for a mesenteric angiogram with possible embolization. The micropuncture kit was used to access the right common femoral artery and a 6-french access sheath (Shibuya, Japan: Terumo) was placed. The celiac and superior mesenteric arteries were catheterized using a C2 catheter (Bloomington, IN: Cook Medical). Angiograms from the celiac artery showed a faint vascular blush in the gallbladder. The proximal gastroduodenal artery was accessed through a microcatheter system using a Progreat microcatheter (Shibuya, Japan: Terumo) and Fathom microwire (Marlborough, MA: Boston Scientific). Superselective angiograms from the proximal cystic artery showed a 3 x 3 mm pseudoaneurysm with contrast blush into the gallbladder lumen arising from the distal superior division of the cystic artery . Irregular traumatized vessels were also seen at the superior aspect of the gallbladder. The microsystem was advanced to the superior division of the distal cystic artery, and embolization was performed using Nester metallic coils (Bloomington, IN: Cook Medical). Post-embolization angiogram from the cystic artery demonstrated continued filling of the pseudoaneurysm from the inferior division of the cystic artery . The inferior division was similarly embolized with metallic coils with post-embolization angiography from the cystic artery demonstrating no filling of the previously seen pseudoaneurysm as well as no active extravasation . Hemostasis of the right common femoral arteriotomy site was achieved using a StarClose SE closure device (Chicago, IL: Abbott Laboratories). The patient tolerated the procedure well and required no further blood products during admission and was discharged on post-operative day six. The patient has been listed on the liver transplant waiting list at this time and is awaiting transplantation. He has undergone a repeat multiphasic computed tomography angiogram for hepatocellular carcinoma screening without evidence of pseudoaneurysm recurrence, non-target embolization, or complication secondary to endovascular embolization. Cystic artery pseudoaneurysms are a rare entity that generally arise from complications associated with acute cholecystitis. We present a case of an iatrogenic cystic artery pseudoaneurysm after TJLB with biopsy samples taken from an accessory right hepatic vein. Given the unfavorable right main hepatic vein anatomy in this patient, TJLB through the accessory vein was thought to be less risky for the patient than conversion to a percutaneous approach. Sampling from the accessory right hepatic vein is an accepted approach; however, it has been reported to be associated with an increased risk of complications, including direct arterial injury, liver capsule perforation, or even accidental renal sampling . In the present case, biopsies taken from this position likely caused trauma to the superior division of the distal cystic artery and resultant hemorrhage and hemobilia. Transarterial embolization has been shown to have an approximately 95% success rate in treating post-laparoscopic cholecystectomy cystic and hepatic artery pseudoaneurysms, with less morbidity and mortality than repeat surgery . However, approximately 88% of pseudoaneurysms associated with laparoscopic cholecystectomy arise from the right hepatic artery. Only a few cases have been reported to be secondary to TJLB, and of these cases, the traumatized artery is a branch of the hepatic artery . The present literature review did not identify the case of cystic artery pseudoaneurysm after TJLB. Cystic artery pseudoaneurysms are rare complications usually associated with acute cholecystitis and laparoscopic cholecystectomy. We discussed a rare case of iatrogenic cystic artery pseudoaneurysm after TJLB. This rare yet life-threatening complication impacts patient outcomes. This case raises the idea that close post-procedure monitoring for hemodynamic instability or changes in laboratory parameters after TJLB may be warranted in patients with risk factors for hemorrhage, such as baseline coagulopathy to rule out rare yet morbid complications such as iatrogenic cystic artery pseudoaneurysm. | Clinical case | biomedical | en | 0.999996 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699457 | The eyebrows are critical facial structures serving a multitude of functions. They play a significant role in facial recognition, emotional expression (sadness, surprise, anger), gender identification, and aesthetics. Additionally, they serve a protective role, shielding the eyes from sweat and minor injuries. 1 Eyebrow abnormalities can significantly impact a patient's confidence and quality of life. 2 Reconstructing an eyebrow defect presents a unique challenge in plastic surgery due to the location and characteristics of eyebrow hair. Existing techniques for eyebrow reconstruction range from simple closure to more complex procedures, including local flaps, scalp flaps, hair grafts, and composite grafts. 3 While pedicle superficial temporal artery flaps have been used successfully for large eyebrow defects, there is a lack of documented cases utilizing free superficial temporal artery flaps for this purpose. This report presents the first documented case of total eyebrow reconstruction using a free superficial temporal artery flap. This novel approach offers a potential solution for patients with large eyebrow defects, potentially surpassing the limitations of existing techniques. An 18-year-old female patient presented with a giant congenital melanocytic naevus involving her left eyebrow and temporal region . The naevus was excised in 2015 and reconstructed with a supercharged superficial cervical artery perforator flap harvested from the scapular region. The flap's blood supply was enhanced by anastomosing the circumflex scapular artery to the superficial temporal artery . Six months later, she desired eyebrow reconstruction. Figure 1 Pre-operative views: giant congenital melanocytic naevus. Figure 1 Figure 2 Post-tumour removal view: absence of left eyebrow. Figure 2 For eyebrow reconstruction, a free flap based on the right superficial temporal artery was chosen. Doppler ultrasound was used to preoperatively map the right and left superficial temporal arteries for the flap pedicle and recipient vessels. The flap design considered the size and hair direction of the contralateral eyebrow. The surgery was performed under local anaesthesia with 3.5 times magnification. Lidocaine 2 % was injected subcutaneously and intradermally to both the donor and recipient sites prior to incision and was repeated every 45–60 min as needed for patient comfort. No general anaesthesia was required. The patient was placed in a supine position. The recipient site was prepared by exposing the left superficial temporal vessels. The planned anastomosis site and the required vascular pedicle length were determined. A skin and subcutaneous tissue flap was harvested from the right temporal region based on the frontal branch of the superficial temporal artery. The dissection aimed to preserve the underlying hair follicles. The lateral branches of the artery were ligated and divided. The vascular pedicle was approximately 10 cm in length. The flap was detached and transferred to the recipient site. The superficial temporal vessels of the flap were anastomosed in an end-to-end fashion to the left superficial temporal vessels using 9–0 Prolene sutures. The flap margins were meticulously sutured to the recipient eyebrow defect using 6–0 Prolene sutures . Haemostasis was confirmed, and the donor and recipient sites were closed in layers. A drainage tube was placed at the reconstruction site. The total surgical time was 2 h, and a total of 400 mg of lidocaine (20 ml) was used. Figure 3 Intraoperative views. Figure 3 The post-operative course was without any complications. The drainage tube was removed 16 h post-operatively, and the patient was discharged home. Complete flap survival with hair growth was observed. The reconstructed eyebrow showed good stability and the patient reported high satisfaction. The reconstructed eyebrow remained stable with hair growth at over five years post-operatively . Figure 4 Postoperative views. Figure 4 This case report describes the successful reconstruction of a total eyebrow defect in an 18-year-old female patient following the removal of a giant congenital melanocytic naevus. While naevi are typically managed with excision, significant post-operative defects can negatively impact a patient's appearance and quality of life, particularly when facial structures like the eyebrow are involved. Traditionally, eyebrow reconstruction employs a variety of techniques depending on the size and location of the defect. These techniques range from simple closure to more complex procedures like local flaps, scalp grafts, and follicular unit transplantation. 3 Selecting the most suitable approach involves careful consideration of factors like the defect size and colour, eyebrow orientation, and the patient's natural features. Balancing functional and aesthetic outcomes while minimizing donor site morbidity is also crucial. 3 For partial eyebrow defects, local flaps harvested from the uninjured contralateral eyebrow remain the gold standard due to their colour and hair growth characteristics matching the recipient site. 4 However, recent decades have seen the rise of superficial temporal artery island flaps for eyebrow reconstruction. These flaps offer advantages like hair-bearing skin with appropriate texture and thickness. 5 , 6 Other authors recommended using the advancement V-Y flap with an orbicularis oculi-based pedicle for defects less than half of the eyebrow length and the superficial temporal artery island flap for defects exceeding half of the eyebrow length. 7 While effective, island flaps become unsuitable when the ipsilateral temporal region or blood vessels are compromised. 8 Free flaps offer a solution in such cases. While they can be technically demanding and require longer operative times compared to island flaps, they provide unmatched versatility and can be used even when the donor site has been damaged. 9 Notably, free superficial temporal artery flaps share the same structural and aesthetic properties as the recipient eyebrow, including hair growth characteristics. Additionally, the rich vascular supply of the superficial temporal artery allows for successful microsurgical anastomosis, enabling reconstruction under local anaesthesia with shorter hospitalization and recovery times compared to traditional free flaps. 9 While local anaesthesia is typically sufficient, the type of anaesthesia should be discussed with patients preoperatively. The amount of lidocaine administered should be carefully calculated to prevent potential toxicities. For patients with significant surgical anxiety, sedation or general anaesthesia may be considered. This case report presents the first documented instance of total eyebrow reconstruction using a free superficial temporal artery flap. The successful outcome, with complete flap survival and hair growth, highlights the potential of this technique as a viable option for reconstructing large or complex eyebrow defects, especially when traditional methods are not feasible. Further studies with larger patient populations are warranted to validate the long-term efficacy and refine the surgical approach. None. The patient provided written consent for the use of her images in the paper. Not required. None declared. | Clinical case | biomedical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699598 | Out-of-hospital-cardiac arrest (OHCA) is a significant health concern with approximately 275,000 annual cases in Europe and 420,000 in the United States. 1 Immediate recognition of cardiac arrest, initiation of cardiopulmonary resuscitation (CPR) and early defibrillation are key factors to improve survival. 2 However, bystander CPR are only reported on average in 58 % (range 13 % to 83 %) of episodes. 2 In addition, there is considerable variation in the quality of bystander CPR, with only a minority demonstrating high quality CPR. 3 Simulation studies have shown that video assisted CPR (V-CPR) may improve cardiac arrest recognition, improve the quality of basic CPR and that it can be performed in a real-life setting. 4 , 5 In OHCA, clinical studies show promising results of V-CPR on CPR quality, return-of-spontaneous-circulation (ROSC) rates and survival to hospital discharge. 6 , 7 , 8 , 9 However, there are considerable knowledge gaps regarding possible benefits of applying this technology in patients with cardiac arrest. 10 We present a case with witnessed OHCA, where dispatcher V-CPR was initiated early and considered essential to provide a tailored approach to a complex OHCA. A 58-year-old male with known paroxysmal atrial fibrillation (AF) sustained an OHCA at 9:47 a.m. while changing tires on his jacked-up car together with his son. An emergency call was received at 9:48 a.m. The patient was reported unconscious with agonal respiration and no CPR was performed. Guided by the Norwegian Index for Medical Emergency Assistance, a stepwise tool for decision-making and to guide callers in emergency medical situations by the Emergency Medical Coordination Centre (EMCC), the patient was identified as unresponsive and not breathing normally. 11 The medical dispatcher immediately instructed the two laypersons on-scene to perform CPR, which they did without hesitation. None had previous CPR experience. Emergency medical services (EMS) and the on-call general practitioner were also immediately dispatched. No other emergency resources (e.g. volunteer first responders) were available during the incident. Since there were two persons on-scene, the medical dispatcher decided to initiate a video call (VC) to better guide the ongoing layperson CPR. The video transmission was initiated two minutes after the emergency call and showed high-quality chest compressions, and a patient with apparent spontaneous respiration and limb movements. After three minutes, they paused compressions according to Norwegian CPR guidelines. 12 The medical dispatcher then observed that the patient‘s breathing pattern changed into agonal respiration. When compressions were continued, the respiration was again considered normal. Because the breathing pattern was deemed normal due to well performed chest compressions, the medical dispatcher decided not to instruct in mouth-to-mouth ventilations according to standard CPR guidelines. The patient therefore received compression-only CPR until arrival of EMS at 10.21 am, 33 min after start of bystander CPR, at which point V-CPR was discontinued. The two laypersons alternated in performing CPR during the whole incident prior to EMS arrival. On EMS arrival, the patient was still in cardiac arrest and presented with ventricular fibrillation (VF). A direct current (DC) defibrillation with 200 Joule was delivered by EMS personnel before they continued CPR. The patient obtained ROSC at 10:23 am. However, the ROSC only lasted for 30–40 s, and the patient resumed to VF. Another two DC 200 J defibrillations were delivered, but the patient remained with VF. A physician-staffed air ambulance helicopter arrived on-scene at 10:30 am. With ongoing CPR with the patient in VF, the patient showed signs of life with head and limb movements, verbal sounds and a normal respiration pattern with a respiration rate of 12 breaths per minute during chest-compressions. A fourth DC 200 Joule defibrillation was delivered which resulted in sustained ROSC with AF rhythm at 10:33, 46 min after the time of cardiac arrest. Before transportation a rapid sequence induction with intravenous (iv) analgesia (fentanyl 0.2 mg iv), sedation (ketamine 75 mg iv), muscle relaxation (rocuronium 50 mg iv) and endotracheal intubation was performed without any complications. An arterial line was inserted and an intravenous ketamine infusion (1.5 mg/kg/hour) was started for maintenance of sedation during transport to hospital. The patient was hemodynamically stable in-flight with a blood pressure of 150/80 and a pulse rate of 70–90/min, except a brief period of ventricular tachycardia during take-off from the scene. A dose of intravenous amiodarone 100 mg was administered, and the patient converted to AF. The measured oxygen saturation level was 98 % and the patient was normothermic. Transport to the nearest university hospital was uneventful and he was admitted to hospital at 11:59 a.m. The first arterial blood gas showed a metabolic acidosis with pH 7.20, pCO2 5.7 kPa, pO2 12.2 kPa, base excess −11.2 mmol/L, lactate 5.5 mmol/L, bicarbonate 17 mmol/L and glucose 13.6 mmol/L. Other values were normal. A percutaneous coronary intervention was performed with a successful revascularisation and stent implementation of partly occluded left anterior descending and circumflex arteries. A one-chamber cardioverter-defibrillator was implanted and he was discharged to a local hospital for follow-up on day 11, with full neurological recovery. Access to timely EMS response in time-critical situations (e.g. cardiac arrest) is a vital factor to improve patient outcome. 13 The EMS response time in this case was 33 min, which is often the case in sparsely populated areas, such as rural Norway. 14 However, the massive development of smartphone technology during the last two decades has opened new telemedicine possibilities in modern healthcare. 15 The use of VC to assist callers and EMS has the potential to compensate for longer response and travel times. However, despite considerable interest in this technological development, the evidence of effect on patient survival and outcome in real-life OHCA is limited as the specific effect of V-CPR has been difficult to isolate. Other promising technological developments, such as the use of drones carrying defibrillators in OHCA, have shown the potential for increased access to advanced devices and additional decision-making, especially in rural areas. 16 , 17 However, like V-CPR, there is a need for further testing in real-life situations to evaluate efficiency and how these interventions impact final outcome. 16 , 17 A recent meta -analysis found that V-CPR can improve bystander CPR during simulated cases, but that the process is substantially affected by poor video signals and lack of guidance procedures. 18 Several studies have found improvements in specific items of the CPR process, with better compression rates and hand placement. 10 , 5 , 6 , 7 In our opinion, the main effect of V-CPR in this case was a more tailored approach and thorough guidance of laypersons without previous CPR experience in a complex setting with long-lasting CPR without back-up of present EMS, resulting in high-quality CPR, CPR induced consciousness (CPRIC) and a good neurological outcome. VCs were introduced in 2020 in Norwegian EMCCs for the use at the medical dispatcher’s discretion, in order to increase dispatcher situational awareness and improve the quality of care given by lay persons. 19 Currently, no specific guidelines exist on how VC can be used in the most appropriate way. The solution used in this case was developed by the Norwegian Air Ambulance Foundation and implemented in EMCC nationally in collaboration with the Norwegian Directorate of Health in 2020. 20 The EMCC sends a link to the caller’s mobile phone after approval by the caller, and the video link allows the medical dispatcher to use the available mobile phone camera. 20 , 21 Preliminary evaluations pertaining to general use have described high user-friendliness and that the medical dispatcher’s perception of patient’s acuity was affected in about half of the cases. 19 We strongly believe that video assistance by trained medical personnel has future unsolved potential. However, it is important to recognize the need for 1) clear guidance protocols 2) training in video-assisted dispatch and 3) training in the ability to instruct lay rescuers in psychological distress. It is also important to keep in mind, that the availability of live video transmission from scenes may expose the EMCC dispatchers to unpleasant visual impressions. 22 . Apparent signs of life (i.e. breathing and head/limb movements) were observed in this case during compressions by the laypersons and after arrival of EMS personnel. This situation added extra complexity, which potentially could have affected the decision to continue or stop ongoing CPR. In case reports and a systematic review describing the phenomena, the observation of breathing efforts has been inconsistently reported. 23 , 24 Agonal gasps or breathing efforts also may be present in patients with cardiac arrest not receiving CPR, so this sign may be less sensitive on CPRIC than movements. Increasing number of CPRIC events are reported, most likely due to a combined effect of community CPR responder programs, improved CPR quality and increased focus on the chain of survival. 25 A noteworthy point is that in a prospective study focusing on cognitive experiences in cardiac arrest survivors, only 2 % of patients retrieved visual or auditory awareness following their incident and no patients remembered any experience of pain. 26 In the described case, the patient could not recall any memory of the incident. The case represents a complex cardiac arrest with long-lasting CPR, signs of life and no previous CPR experience in lay persons, where V-CPR was instrumental in providing on-scene guidance and decision-making. Steinar Einvik: Writing – review & editing, Writing – original draft, Investigation, Data curation, Conceptualization. Ole Erik Ulvin: Writing – review & editing. Trond Nordseth: Writing – review & editing. Oddvar Uleberg: Writing – review & editing, Writing – original draft, Supervision, Investigation, Data curation, Conceptualization. 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. | Clinical case | clinical | en | 0.999997 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699804 | The differential diagnosis for pathogens in osteomyelitis varies depending on anatomic location and host risk factors. Vertebral osteomyelitis classically stems through hematogenous spread from a distant primary source . The etiology for vertebral osteomyelitis is typically gram-positive pathogens, regardless of age, gender, or level of spinal involvement. In males younger than 60, Staphylococcus , Streptococcus , and Enterococcus combine to cause 86 % of cases , with Staph. aureus accounting for most of these cases , . Less than 2 % of cases are due to anaerobes . We present a rarely encountered culprit of osteomyelitis. A 55-year-old-male with a chronic left uretero-pelvic junction (UPJ) obstruction presented to the ED in 2023 with complaints of 2–3 weeks of low back pain. He reported it was sudden onset, and there was no mechanism of injury. It had been gradually worsening over that timeframe. He described it as midline, sharp, 9/10 stabbing pain with radiation into bilateral hips. It worsened with movement and lying flat in bed. He experienced minimal relief with ibuprofen and started seeing a chiropractor without notable improvement. He missed a week of work related to these complaints. He denied any systemic complaints, including fevers/chills, night sweats, other joint pain, bowel/bladder incontinence, or lower extremity weakness. He reported some blood-tinged urine recently but denied dysuria. He had a urinary tract infection about a year prior and has never required IV antibiotics. He was known to have a UPJ obstruction since his 20 s, when it was incidentally identified during trauma work-up after he was involved in a car accident. He did not have any intra-abdominal or thoracic injuries related to this accident. Since that time, he had this UPJ obstruction managed with chronic stent exchanges. He did undergo two endoscopic balloon dilation procedures for this, one in the late 1990 's and one in the early 2000's, neither of which were successful. Recently he was evaluated by urology, and it was recommended that the patient undergoes left nephrectomy due to nonfunctional left kidney after a kidney scan was done. Surgery had not yet been performed. He has had several urinary tract infections throughout his adult life, for which he was treated with oral antibiotics. He has not required any antibiotics within the last year. Upon presentation, the patient appeared well. His temperature was 98.8°F (37.1°C). He was normotensive with heart rates in the 80 s and maintaining oxygen saturations > 90 % on room air. Palpation of the cervical, thoracic, and lumbar spine showed no major tenderness on palpation. On exam the patient had difficulty moving around and sitting due to the low back pain. His exam was otherwise normal. His white blood cell count was 11.2 k/µL (reference range 4.5–11.0) with 60 % neutrophils (normal 41–77 %). CRP was 3.88 mg/dL (reference range <1.00), and ESR was 43 mm/hour (reference range 0–20). Urinalysis was nitrite negative and had 3 + leukocytes (reference negative). There were 2–10 white blood cells/hpf seen on microscopy (reference 0–2), in the setting of 0–2 squamous epithelial cells/hpf (reference 0–5). Urine cultures and blood cultures were obtained. Given overall clinical stability, he was monitored off antimicrobials. CT abdomen/pelvis was obtained and revealed the development of cortical irregularity and osteolysis involving the L4–5 endplates and posterior superior aspect of the L5 vertebral body. There was also paravertebral edema about the L4 and L5 levels with new intermediate density material posterior to the L5 vertebral body, which resulted in moderate central canal narrowing. It was also noted that the left nephro-ureteral stent was mispositioned with the superior cope loop in the mid ureter, with some mild wall thickening of the proximal left ureter. MRI of the Lumbar Spine revealed loss of normal disc height with an abnormal fluid signal and diffuse contrast enhancement of the majority of the L4 and L5 vertebral bodies. There was enhancement in the epidural space, likely contiguous inflammation. Findings were compatible with spondylodiscitis at L4-L5 with contiguous phlegmon into the epidural space. Fig. 1 MRI Lumbar Spine. Fig. 1 Urine culture ultimately resulted with < 100k CFU/mL urogenital/skin microbiota. On day 2 of admission, the patient underwent a L4/5 disc biopsy in interventional radiology. Pathology revealed focal necrosis and acute inflammation (discitis) with adjacent granulation tissue. AFB stains were negative for acid-fast bacilli, and GMS stains were negative for fungal organisms. Biopsy cultures remained negative on day 5 of admission. Two sets of peripheral blood cultures were also negative at 5 days. Transthoracic echocardiogram was obtained and was negative for vegetations. On day 5, he underwent a repeat L4/5-disc biopsy. Results of repeat L4/5 disc biopsy were pending at the time of discharge on hospital day 5. He was started on empiric IV Daptomycin and IV Cefepime. The biopsy culture resulted with Gardnerella vaginalis on both routine and anaerobic cultures 12 days after initial admission. At that time, IV Daptomycin and IV Cefepime were stopped. Alternatively, oral Metronidazole 500 mg three times daily was started. He completed 10 weeks of Metronidazole therapy, with significant improvement in his pain. He ultimately underwent left nephrectomy 3 months following this and had no re-admissions since. To our best knowledge, we present the first case of G. vaginalis vertebral osteomyelitis in a male. G. vaginalis is a rare cause of bone and joint infections. On average, anaerobes account for < 2 % of cases of vertebral osteomyelitis , and < 1 % of osteomyelitis in general . Furthermore, G. vaginalis is even less common, particularly in males . G. vaginalis ’ main association is with bacterial vaginosis . Several case reports to-date of G. vaginalis bone and joint infections have occurred in concurrence with G. vaginalis colonization of the genitourinary tract , . Table 1 outlines all identified cases of G. vaginalis bone and joint infections in literature. To date, there have only been 3 cases of vertebral osteomyelitis reports in females , , , 1 case of native-joint septic arthritis in a female , 3 cases of prosthetic joint infections in females , , , 1 case of prosthetic joint infection in a male , and 1 case of skull osteomyelitis in a male infant whose gestation was complicated by bacterial vaginosis . All cases of joint infections have been in the hip, and all adult cases of vertebral osteomyelitis in adults have been in the lumbar spine, suggesting a possible anatomic association with the GU tract. A variety of mechanisms have been proposed for genitourinary colonization/infection leading to lumbar spondylodiscitis, including hematogenous spread through the posterior venous plexus or Baston’s plexus , . Table 1 Case reports of Gardnerella Vaginalis bone/joint infections in literature. Table 1 Reference Reference # Year * Age Gender Lesion GV colonization Polymicrobial Surgical Management Antibiotic Therapy ** Outcome Nightingale et al. 7 1986 Infant M Parietal OM Yes (in mother) No Debridement Ampicillin Cure Hodge et al. 9 1995 50 F Vertebral OM Unknown No No Ampicillin Cure Graham et al. 10 2009 38 F Vertebral OM No No No Clindamycin Cure Sivadon-Tardy et al. 11 2009 48 F Hip Septic Arthritis No Yes Debridement Amoxicillin Cure Hoarau et al. 6 2012 71 F Hip PJI Unknown Yes 1-stage revision TMP-SMX Cure Thomas et al. 8 2019 68 F Hip PJI Yes No 1-stage revision Amoxicillin Cure Thomas et al. 8 2019 32 F Hip PJI Yes No 1-stage revision Clindamycin Cure Kim et al. 3 2021 61 F Vertebral OM No Yes No Metronidazole Cure Saricaoglu et al. 5 2022 45 M Hip PJI No Yes Debridement/retention Clindamycin Cure Belote et al. present case 2024 55 M Vertebral OM Unknown No No Metronidazole Cure M: Male F: Female OM: Osteomyelitis GV: Gardnerella vaginalis PJI: Prosthetic Joint Infection * Year of publication ** Antibiotic used for main treatment course G. vaginalis is a small, facultative anaerobic gram-variable rod , . It is difficult to identify, difficult to culture, and less virulent , , than more common bacteria associated with native vertebral osteomyelitis. G. vaginalis can form biofilms , , including on contraceptive intravaginal ring, but there is no data on extra-vaginal foreign bodies, or in males . It can colonize the urethra in up to 4.5–11.4 % of males , and has been shown to colonize extravaginal mucosa in women . We suspect that our patient had developed colonization of his left ureteral stent, given the noted wall thickening of the adjacent ureter on CT scan. It also may have been the “urogenital flora” grown on urine culture. Unfortunately, this specimen was not available for further analysis as his biopsy culture resulted 12 days after his original urine culture, and routine urine samples at our institution are discarded in that timeframe. We suspect that colonization of his ureteral stent with G. vaginalis is likely what predisposed him to develop native vertebral osteomyelitis. He improved on culture directed therapy, suggesting that the identified G. vaginalis was truly pathogenic. Our case also highlights the diagnostic importance of withholding antibiotics for osteomyelitis in the setting of clinical stability, as per Infectious Disease Society of America (IDSA) Guidelines . Biopsy results should guide therapy. Image-guided biopsy for lumbar spondylodiscitis has variable sensitivity, with reports as low as 40 % . In the setting of a negative initial biopsy, IDSA guidelines recommend a 2nd biopsy to be sent for culture , as was performed in this case. Were repeat biopsy not pursued in this case, he likely would have developed empiric treatment failure and developed worsening symptoms, and potentially hospital re-admission. Holding antibiotics after initial biopsy in this case proved highly beneficial. Alex Belote: Investigation, Writing – original draft. Kassem Hammoud: Conceptualization, Data curation, Investigation, Writing – review & editing. The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: co-author serves as an editor for the journal ID Cases. KH If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699872 | Uterine mesothelial cysts are extremely rare. Intra-abdominal mesothelial cysts were first described in 1979 , and approximately 150 cases have been reported in the literature to date. To the best of our knowledge, only five of these cases are associated with the uterus, and only one published in 2019, as in our case, developed within the myometrium . The factors triggering the growth of mesothelial cysts remain unknown, although developmental anomalies are often suspected. A history of abdominal surgery, pelvic inflammation, endometriosis, or mesothelial cysts of the round ligament are considered potential associations . Herein, we present a case of a uterine mesothelial cyst that was surgically treated under the preoperative diagnosis of a degenerated leiomyoma. A 41-year-old female patient presented to the gynecology clinic with complaints of abdominal pain. Her medical history revealed two pregnancies, one ending in cesarean delivery years ago and the other in curettage, with no additional comorbidities or surgical history. Transvaginal ultrasonography demonstrated an enlarged uterus with a hypoechoic intramural cystic mass measuring 7.2 × 3.3 × 3.6 cm in the posterior uterine corpus. The endometrium appeared thin and regular, and the bilateral adnexal regions were unremarkable. Computed tomography further identified the lesion as a hypodense mass in the uterine corpus measuring 7.2 × 3.3 × 3.6 cm . Under the preliminary diagnosis of a degenerated leiomyoma, the patient underwent total laparoscopic hysterectomy and bilateral salpingectomy. Macroscopic examination of the uterus revealed a 6 cm cystic lesion containing serous fluid within the posterior uterine wall . Upon incision, no solid or papillary structures were observed on the cyst wall, although septation was noted in one area. Microscopic evaluation revealed a cystic lesion lined with a single layer of benign cuboidal mesothelial cells located within the myometrium, unrelated to the endometrium or serosa. Immunohistochemical studies showed positive staining of the cyst epithelium with calretinin, D2-40, WT-1, ER, and PR . Extensive sampling was performed to exclude degenerated leiomyoma, but no areas indicative of leiomyoma were identified. The case was diagnosed as a uterine mesothelial cyst based on the histomorphological and immunohistochemical findings. No pathology was observed during the patient's follow-up. Since 1985, no cases of mesothelial cysts in the uterine myometrium have been reported in the literature, except for one case in 2019, which, similar to our case, involved a mesothelial cyst developing within the myometrium . Of the 150 cases of mesothelial cysts reported in the literature, only five were uterine-related. One was described as a multicystic lesion attached to the serosa by a pedicle between the left uterine fundus and ovary , another presented as multiple small cysts on the serosal surface of the uterine corpus , one resembled our case within the myometrium , and the remaining two were reported as lesions adhering to the myometrium on the posterior uterine wall . Based on the current literature, our case represents the second instance of a mesothelial cyst developing within the myometrium. Due to their prevalence in women of reproductive age, some studies suggest a potential relationship between sex hormones and mesothelial cysts. However, since mesothelial cysts of the round ligament do not demonstrate immunohistochemical expression of ER or PR, some authors propose that these lesions are independent of sex hormones . In the five uterine mesothelial cyst cases, the patients were aged 27-47 years, but the menopause status of women in their 40s is unknown, and while ER and PR expressions were negative in one of the five articles, immunohistochemical studies related to ER and PR were not reported in the other four articles . The developmental process of these cysts remains controversial due to the limited number of reported cases and the need for further research. Mesothelial cysts share similar morphological and histopathological features with benign cystic mesothelioma . Both can manifest as inclusion cysts within the pelvic cavity. While mesothelial cysts are typically solitary, unilocular, and benign, with epithelia composed of well-differentiated mesothelial cells, benign cystic mesothelioma is often multilocular and considered a reactive lesion or a neoplasm with low malignant potential and a tendency for recurrence . Uterine mesothelial cysts lack specific clinical features. They may be asymptomatic or present with a palpable abdominal mass or pelvic pain in some patients. Radiological diagnosis is challenging due to their similarities with leiomyomas exhibiting cystic degeneration, and they may be misdiagnosed preoperatively as degenerated leiomyomas, as in this case . The characteristic microscopic appearance of a single layer of cuboidal mesothelial cells lining the cyst wall, along with positive staining for specific mesothelial markers such as calretinin, WT-1, mesothelin, and HBME, aids in the diagnosis of pelvic mesothelial cysts . Estrogen and progesterone expression remain variable, and no definitive conclusions have been reached . Although most authors describe mesothelial cysts as benign lesions with low recurrence and malignant potential, cases with recurrence rates of up to 27% in benign cystic mesotheliomas and malignant transformation have been documented in the literature . Treatment options include cyst excision; however, the thin cyst walls often complicate complete excision and result in high recurrence rates. To minimize recurrence, total or partial hysterectomy is considered the optimal approach, especially for older patients or those who do not plan to have children . In conclusion, mesothelial cysts are extremely rare lesions in the uterus, and definitive diagnosis is typically established through pathological examination. Further case reports and advanced studies will help us better understand the development process of this lesion. Awareness of this uncommon lesion and its inclusion in the differential diagnosis of pelvic pain in women of reproductive age can facilitate patient management. Although complete excision of the cyst wall may be challenging, the prognosis is favorable, and hysterectomy, when indicated, significantly reduces the risk of recurrence. | Clinical case | biomedical | en | 0.999996 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699881 | Carotid cavernous fistulas are a serious condition that involves spontaneous or trauma-induced disruption in the carotid arteries within the cavernous sinus. This disruption causes blood to leak into the sinus, which impedes the function of cranial nerves III, IV, V1, V2, and VI . Early signs of CCF often include proptosis, glaucoma, severe headaches, partial blindness, and conjunctival hyperemia, especially in patients with preexisting conditions such as atherosclerosis, hypertension, and diabetes. If left untreated, patients can develop periorbital disfigurement and permanent vision loss . Despite effective methods of diagnosis using angiography and blood vessel repair, this condition is often misdiagnosed due to it making up only 1.5% of endovascular-treated ruptured aneurysms and its similarity in presentation to cerebrospinal fluid (CSF) leaks . Therefore, CCFs have been under-investigated, and additional research is required to delineate the cause, unique features, and proper treatment of this phenomenon. Often misdiagnosed due to its ambiguous presentation, we present a successful clinical workup and treatment of a 78-year-old female patient who developed a CCF in the setting of spinal fusion. We suggest a potential relationship between prolonged prone positioning during surgical intervention and the occurrence of CCF. A 78-year-old female patient presented for bilateral lateral radicular leg discomfort and back pain refractory to conservative management including physical therapy and anti-inflammatory medications. Magnetic resonance imaging (MRI) of the lumbar spine revealed significant degenerative spondylosis of L4-S1 levels including severe lateral recess stenosis at L4-L5 and bilateral pars defects at L5-S1 . She was neurologically intact with no remarkable findings on physical exam. Operative management was pursued due to her symptoms and imaging findings. She underwent a successful L4-S1 posterior instrumented fusion with partial laminectomies at L4 and L5 along with an L4-L5 bilateral facetectomy. There was no significant intraoperative fluid leak. Estimated blood loss was minimal, and the procedure lasted approximately 228 minutes with the patient prone on a Jackson spine table. The patient’s postoperative course was uneventful until postoperative day 3 when the patient developed severe throbbing headaches and neck and shoulder pain/stiffness that resolved with laying flat. The patient’s symptoms resolved the following day, so she was discharged. Two weeks following her surgery, she presented for suture removal and had no complaints of headaches or neck and shoulder pain. Six weeks following the surgery, the patient presented for a follow-up with complaints of bifrontal headaches that were worse in the morning for the past two weeks. She also reported neck discomfort and sharp discomfort whenever she turned her head to one side or extended her neck. The headaches were not positional nor particularly severe. There was no evidence of a spinal fluid leak from the incision nor palpable fluid collection appreciated on the physical exam. An x-ray of the cervical spine demonstrated degenerative changes from C4 through C7 with complete loss in disc space height at each level from C4 inferiorly . The patient presented to the Emergency Department on two separate occasions in the following two weeks; first, she had a pounding headache in bilateral temples with swelling below her left eye and an episode of emesis the evening prior. She was also noted to have conjunctivitis in both eyes and was given antibiotic eye drops. She presented the second time with complaints of a constant headache in the middle of the night, nausea, and new onset blurry vision in her left eye. The patient was also hypertensive with 170 systolic blood pressure. A brain CT scan showed no evidence of an acute intracranial process. Basic lab workup was unremarkable on both visits. The patient was discharged the second time with prescriptions for Percocet and Zofran and was recommended to follow up with her neurologist. Eight weeks following her fusion, the patient was struggling with worsening headaches and nausea. A lumbar spine MRI showed a fluid collection adjacent to the dura with a possible dural tear . Her worsening symptoms prompted a return to the operating room for wound exploration and repair of a suspected CSF leak. There was no apparent CSF leak. Valsalva was performed with no obvious egress of spinal fluid. Given that there may have been an occult non-identifiable leak the dura was covered with two layers of Surgicel (Ethicon, Johnson & Johnson, USA) followed by Adherus (HyperBranch Medical Technology, Durham, NC, USA) tissue sealant. A lumbar drain was placed through the next most rostral intact interspinous space brought out through a separate stab incision. A 10-round Jackson-Pratt drain was tunneled into the sub-fascial space and brought out through an additional stab incision. Following the surgery, she had two episodes of emesis with continued headaches and nausea. However, she experienced significant improvement in her headaches and nausea over the subsequent days. She was discharged one week later following drain removal and complete resolution of her symptoms. Two weeks following discharge, she presented to the emergency department again for continued headaches, left conjunctival hemorrhage, mild proptosis, diplopia, and a cranial nerve (CN) III palsy. Given the unclear etiology for her headaches and new exam findings, there was a concern for Tolosa-Hunt syndrome or a carotid-cavernous fistula which prompted a brain MRI. Imaging demonstrated prominent superior ophthalmic veins, with the right being greater than the left . A left carotid-cavernous fistula was confirmed using diagnostic angiography. The patient underwent transvenous embolization for carotid-cavernous fistula in the intercavernous and left cavernous sinus. The fistula was nearly completely occluded with a significant reduction of flow into the fistula and gradual occlusion noted during angiography from the arterial supply . She had a successful coil embolization of a Barrow Type C carotid-cavernous fistula. Following the procedure, the patient had a significant improvement in her symptoms and was discharged three days later. Her postoperative course was significant for an improvement in her headaches and a lingering CN III and VI palsy predominantly of the left eye. Carotid-cavernous fistulas (CCF) are pathological shunts between the cavernous sinus and the carotid artery or its meningeal branches. The Barrow classification system anatomically describes four types of CCFs. Type A CCFs are direct, high-flow communications between the cavernous sinus and the internal carotid artery (ICA) as it traverses the sinus. Low-flow fistulas indirectly connect the carotid artery to the cavernous sinus via the ICA meningeal branch (Type B), external carotid artery meningeal branch (Type C), or both branches (Type D) . Several etiologies regarding the pathogenesis of CCF have been described. Type A CCFs are often associated with trauma, ruptured ICA aneurysms, connective tissue diseases, or iatrogenic injury . Type A CCF has been reported after various procedures, particularly those involving direct carotid manipulation or involvement of adjacent structures; procedures reported in association with Type A CCF include carotid endarterectomy, mechanical thrombectomy, transsphenoidal exploration, craniotomy and ocular surgery . Traumatic CCFs may occur as a result of bony fragment damage to the vessel wall secondary to basilar skull fracture or shear forces directly damaging the vessel wall . Indirect CCFs most commonly affect elderly women and are classically associated with ICA dissection, hypertension, and connective tissue diseases, including atherosclerosis, fibromuscular dysplasia, and Ehlers-Danlos syndrome . The presenting signs and symptoms of CCF are variable, depending on the characteristics of the CCF. Direct CCF often presents with conjunctival injection, blurred vision, headache, pulsating proptosis, and strabismus, most often affecting the sixth cranial nerve (the only cranial nerve traversing the interior of the cavernous sinus) . Low-flow CCFs often follow an insidious course, and conjunctival injection is typically the predominant physical complaint . Notably, low-flow CCFs are especially subject to misdiagnosis; our case represents a delayed diagnosis due to the patient’s recent spinal surgery and symptomatology mimicking a dural tear. The diagnosis of CCF is dependent upon imaging. Computed tomography (CT) and magnetic resonance (MR) imaging with or without angiography are often the first modalities utilized in assessing possible CCF and may be useful in diagnosing CCF; however, digital subtraction angiography (DSA) is currently considered the “gold standard” imaging modality for CCF because it demonstrates the cavernous sinus filling and drainage patterns . Strong clinical suspicion or CT/MRI evidence of possible CCF should prompt DSA . The exact treatment strategy is dependent upon the characteristics of the CCF. Direct CCFs are most often treated through endovascular approaches, with embolic materials, such as coils, acrylic glue, or ethylene vinyl alcohol copolymer, injected into the cavernous sinus to close fistula patency . Endoluminal stenting may be utilized to prevent subsequent embolism and promote endothelial proliferation . Twenty to sixty percent of indirect CCFs spontaneously resolve; thus, conservative management is usually attempted before intervention . External manual carotid compression with the contralateral hand several times per day has been shown to promote fistula closure . If surgical intervention is indicated, the same endovascular techniques used to repair direct CCFs are the first-line treatment modalities . However, because indirect CCFs involve smaller, tortuous carotid branches, endovascular therapy is not as effective compared to direct CCFs . Overall, endovascular treatment has a greater than 80% cure rate for CCF . If first-line treatments fail, open surgical ICA ligation can be attempted . Our patient was successfully treated with CCF coil embolization. CCFs are easily misdiagnosed, as CCF presentations can be highly variable and may be similar to several different diseases . Specific clinical histories may further confound the diagnosis of CCF. For example, Jain et al. describe a CCF that was initially misdiagnosed as hemorrhagic choroidal detachment following ocular surgery . Similarly, our patient's history of recent spinal surgery made a CSF leak a more plausible diagnosis than CCF. CSF leaks can present very similarly to CCF, with headaches, nausea, neck or back tightness, and cranial nerve palsies, being commonly shared symptoms . The diagnosis of CCF in our case was delayed because the patient’s recent surgical history made a dural tear more plausible. However, surgical exploration and drainage did not improve the patient’s symptoms, suggesting a dural tear was not present. After ruling out a dural tear, subsequent workup led to the diagnosis and treatment of CCF. To our knowledge, there is no association between CCF and spinal surgery or prolonged periods of prone positioning. There have been no reported cases of CCF following surgery not involving the carotid artery or related structures; all reported iatrogenic causes of CCF involve direct carotid involvement or surgery to adjacent structures . The patient has no known vascular diseases and suffered no recent trauma. Indirect CCFs (such as the Type C CCF seen in this patient) disproportionately affect elderly women . We hypothesize that perhaps a prolonged period spent in the prone position during her spinal surgery is responsible for the CCF in a patient whose demographics predisposed her to CCF. Our case represents the first reported CCF occurring in conjunction with spine surgery. Although unsubstantiated, we believe there may be an association between a prolonged period in the prone position and the development of CCF. Furthermore, we would like to document our clinical workup; in which the clinical history and symptomatology suggested a dural tear, although subsequent workup led to the diagnosis of CCF. This case demonstrates a difficult diagnosis of CCF and its potential relationship to spinal surgery. | Clinical case | clinical | en | 0.999997 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
PMC11699977 | The increased incidence of second malignant neoplasms (SMNs) after Hodgkin lymphoma (HL) has been well-documented in the literature . In the head and neck region, surgeons encountering simultaneous primary malignancies like HL and squamous cell carcinoma (SCC) of the tongue are exceedingly rare, presenting unique diagnostic and treatment challenges . This case, a notable addition to the limited literature, underscores the intricacy of managing such dual malignancies in the head and neck region, emphasizing the importance of a comprehensive, multidisciplinary approach to these complex clinical scenarios. A 39-year-old smoker with a history of classical HL of the right cervical lymph node, clinically stage 1A, diagnosed in 2017 and, previously treated with chemotherapy, lost follow-up for six years and presented with left tongue ulcer, an enlarged and tender left level 2 lymph node, and a persistent left ear pain. Physical examination revealed a left lateral posterior tongue lesion and an enlarged, tender left level 2 lymph node. Further examination with a flexible scope showed a nasopharyngeal mass and the vocal cords were bilaterally movable with no masses. Otoscopy demonstrated a clear and intact tympanic membrane. Biopsies showed the existence of invasive, moderately differentiated SCC in the left lateral posterior tongue lesion, nonetheless, there was no evidence of malignancy infiltration in the nasopharynx. The imaging studies provided a comprehensive overview of the patient's condition. The CT scan of the head and neck showed increased fullness in the nasopharynx and mixed responses in the jugulodigastric lymphadenopathy, suggestive of disease progression . The PET-CT scan displayed prominent hypermetabolic activity in the oropharynx, specifically in the pre-epiglottic region and bilateral palatine tonsils, with significant metabolic activity in the left upper cervical lymph node, raising concerns for metastasis . These imaging findings, collectively, indicated a complex scenario with both progressive and regressive elements in different areas. The notable hypermetabolic activity and lymph node involvement initially aimed towards metastasis from the SCC of the tongue. A left partial glossectomy, bilateral tonsillectomy, and left radical neck dissection with nasopharyngeal biopsy were determined following a discussion of the case on the tumor board. However, the intraoperative pathology revealed a dual pathology. Contrary to the metastatic expectations from the tongue SCC , the lymph nodes were predominantly affected by HL . Responded very well to the surgical approach, three months postoperatively, CT scans demonstrated negative findings and the patient regularly followed up every three months in our clinic. This unanticipated coexistence of SCC and HL within the lymph nodes significantly altered the clinical understanding and necessitated a revision in the treatment approach and prognosis. HL predominantly manifests in lymphatic tissues but can occasionally present in extra-nodal sites, including the head and neck region . HL is commonly seen in late adulthood, the occurrence alongside SCC of the tongue, as presented in this case report, highlights a rare and intricate clinical scenario . The coexistence of these two distinct malignancies is not frequently documented, aligning with the literature that states multiple malignancies account for a small percentage (2-11%) of all head and neck malignancies . The increased occurrence of subsequent malignancies in HL survivors, as compared to the general populace, is partially a consequence of the long-term carcinogenic effects of chemotherapy and radiotherapy treatments. Furthermore, individuals who have overcome HL may possess a heightened predisposition towards the emergence of SMNs relative to survivors of other malignancies, a susceptibility that could be attributed to genetic factors inherent to HL . SCC of the tongue is a highly prevalent malignancy that is more common in the head and neck regions. However, the simultaneous development of HL and tongue carcinoma, which is similar to the infrequently documented cases of laryngeal cancer and lymphoma occurring simultaneously, adds complexity to the diagnostic, therapeutic, and prognostication processes . Similar to the case reported by Nigri and Khasgiwala where a patient with laryngeal SCC was later found to have HL, a synchronous lymphoma with laryngeal carcinoma in situ and a mucosa-associated lymphoid tissue (MALT)-type lymphoma with SCC of the larynx were reported as well . Our case underscores the importance of a thorough histopathological examination in cases of suspected or known malignancies in the head and neck region. In the context of extra-laryngeal carcinoma coexisting with lymphoma, our case parallels the complexity seen in other reported cases where patients presented with multiple primary malignancies involving different regions of the head and neck. The development of a second malignancy in the presence of HL, while not as common as with well-differentiated lymphocytic lymphomas, remains a significant clinical consideration, especially in the head and neck region where lymphatic and mucosal tissues interact closely . While non-Hodgkin lymphoma (NHL) has a noted association with human immunodeficiency virus (HIV)-infected patients, this association is less clear with HL . Our patient's clinical presentation, without HIV infection, aligns with the typical demographic profile for HL. The decision-making process in such cases is nuanced and requires a balance between aggressive treatment for local control and the careful management of potential systemic disease spread . Predisposing factors for the development of SCC, including chronic illness, smoking, and prior chemotherapy or radiotherapy, were considered in the management of our patient . However, our case featured the synchronous development of both tumors without a history of the common predisposing factors, presenting a unique clinical picture. The diagnosis and management of our patient highlighted the necessity for comprehensive and thorough pre-operative examinations to ensure all potential primary sites and regions of tumor involvement are adequately assessed. This case contributes to the growing body of literature on the rare but clinically significant occurrence of concurrent HL and SCC of the tongue, emphasizing the need for meticulous diagnostic workup and individualized, multidisciplinary treatment approaches in managing such complex clinical scenarios. We present an extremely rare case of a patient with classical HL who subsequently developed invasive SCC of the tongue. This case highlights the importance of ongoing surveillance of cancer survivors and the potential for the development of secondary malignancies. A multidisciplinary approach is crucial for the diagnosis, treatment, and follow-up of patients with coexisting primary diseases. | Clinical case | biomedical | en | 0.999999 |
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