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 13-month-old Syrian baby boy born to a non-consanguineous couple was admitted to our hospital with complaints of sudden onset focal tonic-clonic seizure, mainly on the right side, for further evaluation and management. The seizure attack lasted approximately a few minutes. The second attack was associated with loss of consciousness and uprolling of the eyes. There was a history of sudden falls during playing. However, there was no history of fever, head trauma, headache, vomiting, or ear discharge. He had normal growth parameters. there was no significant family history of early stroke, ischemic heart disease, or autoimmune disease. His past medical history was significant for right arm weakness one month before his presentation and resolved without treatment. Upon presentation, he was vitally normal except for HR of 128, and RR of 28.\nA head CT revealed nonspecific hypodensity, bilateral periventricular white matter, and the left parietofrontal subcortical area requiring further workup.\nAn MRI (Figure ) revealed acute infarction involving the left frontal lobe cortical and subcortical region and multiple bilateral periventricular white matter changes likely due to leu-co-encephalopathy/chronic ischemic. MRA (Figure ) showed attenuated and irregular distal intracranial ICAs at the cavernous and supraclinoid segments and bilateral stenosis seen at both MCAs, almost occluded on the right side, and are surrounded by extensive lenticulostriate collaterals.\nEncephalo-duro-arterio-synangiosis (EDAS) surgery was performed due to failure of the first attempt of cerebral angiography. The baby was discharged home in a stable condition on Tegretol and aspirin for follow-up in the clinic and revascularization surgery on the right side was scheduled three months after the first one.\nThree weeks later, the child presented with lethargy, weakness in his left arm, and vomiting. Upon admission, he was afebrile, maintaining room air. Physical examination findings were normal apart from bilateral chest rhonchi, and weakness of the left upper and lower limbs. Hematologists recommended starting the patient on clexane and continuing with aspirin.\nConventional cerebral angiography (Figure ) was performed post left EDAS surgery and demonstrated bilateral ICAs stenosis seen at the carotid terminus with multiple collateral formation compatible with the history of MMD. There is evidence of right MCA M2 segment thrombosis compatible with MRI finding of acute infarction, left distal MCA branches thrombosis, and posterior circulation collateral formation synangiosis to the anterior circulation. Neurologists were consulted, and right-side revascularization was scheduled.\nA post-operative MRI brain (Figure ) was performed because the patient still had upper and lower left side weakness, and it revealed a large right parietal-temporal-occipital area cortical and sub-cortical area of restricted diffusion consistent with acute infarct. The previously seen large right cerebral diffusion restriction now shows residual small areas of cortical and adjacent subcortical spaces.\nThe clinical and radiological findings were suggestive of a progressive vascular occlusive disease that could be seen in MMD. Several investigations including factor V, factor VII, antithrombin activity, protein C, protein S, and EEG were carried to rule out associated medical conditions. The patient was discharged in a stable condition with residual left side weakness. Therefore, an appointment with physiotherapy was reserved.