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 male patient, without relevant personal or family history, was admitted to the emergency room after he suddenly developed severe headache with dysarthria, altered state of consciousness and syncope. At the time of admission, he was found drowsy with global aphasia, stiff neck, right hemiparesis and right Babinski's sign. Kernig's sign was present too. Fundoscopy did not show retinal hemorrhages. Autoimmune diseases, brain tumors, actinic encephalopathy, Von Recklinghausen's disease and Down syndrome were clinically ruled out.\nA non-contrast brain computed tomography revealed bleeding in the subarachnoid space over the left frontal and parietal cortex []. Four-vessel cerebral angiography showed bilateral stenosis of the supraclinoid segment of both internal carotid arteries and multiple tortuous vessels branching from the anterior and middle cerebral arteries (moyamoya vessels). These abnormal vessels were anastomosing with branches from the posterior cerebral and middle meningeal arteries. With this information, MMD diagnosis was made. An extensive search for aneurysms and vascular malformations was done, including a three-dimensional reconstruction from each projection of the four-vessel angiography, with no other abnormalities found []. Taking into account the possibility of an angiographically occult aneurysm, digital subtraction angiography was repeated after 4 weeks and remained without changes from the previous.\nDuring hospitalization, the patient developed a massive pulmonary embolism and subsequently died.