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 53-year-old Arab woman living in Saudi Arabia presented to the emergency department with an acute onset of unsteadiness, a tendency to fall forward present for one week, and slurred speech present for one day. She had a negative history of loss of consciousness, abnormal movement, weakness, numbness, and vertigo. She had a history of chronic headaches. She has diabetes and suffered a stroke two years ago. She had one abortion and twelve successful pregnancies; the last two were C-section. She had no history of sickle-cell disease or other chronic diseases. Her neurological assessment was normal with no focal signs. Other examinations were unremarkable. A head computed tomography (CT) scan and a magnetic resonance imaging (MRI) of her brain (Figure ) upon presentation revealed acute corpus callosum hemorrhage.\nHer brain CT venogram was normal. Other diagnostic studies were normal. A cerebral angiogram (Figures -) showed severe narrowing or occlusion of both distal internal carotid arteries (ICA) with multiple intracranial collaterals, including the choroidal arteries and the posterior pericallosal artery as well as the lenticulostriate arteries; this was a classical presentation of the moyamoya pattern.