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 23-month-old full-term Moroccan baby boy born to a non-consanguineous couple was referred to our hospital with the complaint of sudden onset left-sided hemiparesis evolving for 2 days. There was no history of fever, seizure, head injury, ear discharge, headache, visual disturbances, or vomiting. No family history of early stroke, ischemic heart disease, or autoimmune disease was reported. At presentation, he was conscious and well orientated. There was no dysmorphism, no neurocutaneous markers, and he had normal growth parameters. He was afebrile with a pulse of 110 beats per minute and a respiratory rate of 26 breaths per minute. On neurological examination, there were no signs of meningeal irritation, his gait was hemiplegic, tone was decreased over left side, power was 2/5 over left upper and lower limb using Medical Research Council (MRC) muscle strength scale, and deep tendon reflexes were exaggerated. There were no abnormalities on cardiac auscultation or hepatosplenomegaly. Brain computed tomography (CT) showed a low density area in the right cortical and subcortical frontotemporoparietal regions and right insular cortex representing ischemic lesions in the right middle cerebral artery (MCA) territory (Fig. ). Laboratory investigations, including hemogram, prothrombin, partial thromboplastin, erythrocyte sedimentation rate (ESR), fibrinogen, proteins C and S, antithrombin III activity, and antinuclear antibody tests were all within limits. Renal ultrasonography with Doppler flow study showed no evidence of renal artery stenosis. Electroencephalography revealed no epileptic discharges, only a diffuse slow rhythm over the left hemisphere with slow waves at the temporal regions.\nOur patient was booked for cerebral angiography with contrast, which revealed a proximal obliteration in his MCA with a fine anastomotic moyamoya network and typical “puff of smoke” appearance (Fig. ). Urine for metabolic screening, including homocysteine levels, was normal. A normal hemoglobin electrophoresis ruled out sickle cell disease. An electrocardiogram and echocardiogram revealed no abnormalities. He was finally diagnosed as a case of MMD.\nWe treated our patient conservatively with acetylsalicylic acid 5 mg/kg per day. He showed slight improvement in power over left side (3/5). He was then discharged to follow-up with pediatric neurosurgeon. Cerebral revascularization surgery using encephaloduroarteriosynangiosis (EDAS) was performed. At 8-month follow-up, his hemiparesis was improved and no further ischemic events had occurred.