Probable Moyamoya Syndrome in Association with Hemophilia A in an Infant

Excerpt

To the Editor: A 6-mo-old boy developed acute-onset fever, drowsiness, right focal seizures followed by right hemiparesis. On examination, he had ecchymotic patches at puncture sites, mild pallor, normal sensorium, right hemiparesis, bilateral brisk muscle stretch reflexes and extensor plantar response. Rest of the neurological and systemic examination was non-contributory. An underlying bleeding diathesis was considered. Coagulogram showed isolated prolonged aPTT (58 s) and normal prothrombin time, prothrombin index, international normalized ratio, fibrinogen and negative D-dimer in blood. Hemoglobin was 89 g/L and platelet count was 440,000 cells/μL. Factor VIII assay showed 1 % activity (normal 60-160 %). Magnetic resonance imaging (MRI) of brain showed left-sided ischemic infarct and moya-moya vessels (Fig. 1). Peripheral blood film examination, fasting blood sugar, serum electrolytes, renal and liver functions, calcium, lipid profile, ammonia and arterial lactate, hemoglobin electrophoresis, complement levels and titers of anti-nuclear antibodies, echocardiography and doppler ultrasonography of neck vessels was normal. Protein C, antithrombin III, factor V Leiden mutation and anticardiolipin antibodies were normal. He received fresh frozen plasma and cryoprecipitate for 5 d and was referred for neurosurgical revascularization. At last follow-up at 18 mo of age, the child has no hemiparesis, is gaining milestones with no recurrence of seizures or fresh deficits and revascularization procedure is awaited.

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