A 10-year-old Saudi girl was referred from a local hospital with right side weakness, which was of sudden onset, started in the right lower limb, and 2 days later involved the right upper limb. She had a history of 4 months of pallor, and 2 weeks skin bruising prior to the onset. It was not associated with facial weakness, headache, fever, convulsion, visual disturbance, or loss of consciousness, and no history of preceding head trauma. She had a similar attack of left side weakness 5 months earlier, which resolved spontaneously without medical evaluation at a local hospital. Her mother noticed that she is shorter than her other siblings. Her immunization was completed, and her physical, and cognitive development was normal. Her parents were first degree cousin, and had 6 other siblings. Her physical examination revealed a well looking girl, with pallor and skin bruising on lower limbs, with 2x3cm scattered café au lait spots on the back, and inguinal region. Her weight was 25 kg, below 5th centile for her age, and her height was 118 cm, below the 3rd centile for her age. She had right hemiparesis, there were no hepatosplenomegaly, and the examination of other systems were unremarkable.\nHer investigations showed white blood cell count 2600/mm3 (normal value [NV] - 4000-10500/mm3), neutrophil count 500/mm3 (NV - 3000-5000/mm3), hemoglobin 6.3 g/dl (NV - 12.5-16.1 g/dl), and platelet count 33000/mm3 (NV - 150-400/mm3). Her liver and renal profile were within normal limits. Bone marrow aspiration showed hypocellular marrow. Chromosomal analysis confirmed chromosomal breakage. Brain MRI showed a left frontal focal area of acute ischemic infarction, and an area of right parietal periventricular white matter old infarction, with multiple small white matter lacunar infarcts (). The brain MRA showed poor arterial circulation, and a narrow distal internal carotid artery with puff of smoke sign (arrow) on the right side suggestive of moyamoya disease (). The diagnosis was confirmed as FA, with association of moyamoya disease, presenting with right hemiplegia. She was managed initially by supportive care in the form of a blood transfusion, and physical therapy for hemiplegia, later she underwent partial match related donor stem cell transplantation (SCT), but unfortunately, she died after 3 months from post SCT complications.
A 32-year-old Saudi Arabian male sickler patient presented to the emergency department with a six-hour history of sudden and continuous shortness of breath. The history was obtained from the mother. The patient’s current presentation was associated with agitation and a sudden change in behavior. The patient was shouting and refusing to communicate with doctors. The mother denied any history of orthopnea, cough or fever during the patient’s current presentation. Past medical history was remarkable for SCD since childhood with infrequent hospital visits. Socially, the patient was single, non-smoker and living with his family.\nOn general examination, the patient looked ill, anxious and sitting on the bed lying forward connected to an oxygen mask. The body mass index (BMI) was 18.5 kg/m2. Vital signs showed blood pressure: 125/80 mmHg, pulse: 110 beats/min, respiratory rate: 28 breaths/min, temperature: 39 degrees Celsius and oxygen saturation: 87% on room air and 94% on 5 liters of oxygen. Respiratory and cardiovascular examinations were normal. Hemoglobin electrophoresis showed a hemoglobin S (Hb S) level of 78%. Laboratory testing for D-dimer showed 12 ng/L (normal range is < 0.5 ng/L). Pulmonary embolism was suspected and chest spiral computed tomography (CT) scan showed bilateral consolidation without acute pulmonary embolism. In consideration of the fever and agitation, the patient received ceftriaxone, vancomycin and diazepam.\nCT scan of the head without contrast showed left frontal subcortical deep white matter hypodensity, most likely representing chronic watershed infarction. Moreover, there was left frontal cortical gray matter hypodensity, most likely representing cerebral atrophy (Figure ). There were no signs of acute hemorrhage or ischemic infarction. Magnetic resonance angiography (MRA) showed severely hypoplastic left ICA and abnormal tortuous collateral vessels around the circle of Willis (Figure ). No arteriovenous malformation or aneurysm was noted.\nBased on the clinical and radiological findings, the final differential diagnosis was suggestive of a progressive vascular occlusive process which could be seen in MMD. Hematology team was consulted for further evaluation. The patient received a blood transfusion three times daily for 16 days. The patient dramatically improved and returned to his regular behavior. The patient was discharged home on aspirin 81 mg daily. The patient was seen four weeks later at the neurology clinic and he was doing well.