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Background  Moyamoya is a rare cerebrovascular disease of unknown etiology. The data on moyamoya disease from Pakistan is sparse. We report a case series of 13 patients who presented with moyamoya disease to a tertiary care hospital in Pakistan with a national referral base.    Methods  We conducted a retrospective review of thirteen patients who presented to The Aga Khan University and diagnosed with "Moyamoya Disease" during the period 1988 – 2006. These patients were identified from existing hospital database via ICD-9 codes. A predesigned questionnaire containing information about clinical presentation, management and neuroimaging was administered to all identified patients.    Results  There were seven males and six females. Mean age at presentation was 16.5 years and a female predominance was found in the pediatric age group (n = 10, 71.4%). Stroke (n = 11, 84.2%) was the most common presentation with motor deficit being the universal cortical symptom. Fever was a common symptom in the lower age groups (n = 4, 51.7%). Cerebral Angiography and Magnetic Resonance Angiography showed bilateral involvement of the vessels in eleven patients while unilateral in two. Subarachnoid and interventricular haemorrhage appeared in 2(15.4%) adults. Twelve (92.3%) patients were discharged as independent with minor deficits regardless of therapeutic modality. Only three (23.0%) patients underwent surgery whereas the remaining were managed conservatively.    Conclusion  Physicians when dealing with childhood strokes and characteristic deficits in adult population should consider Moyamoya disease.

Moyamoya disease: A clinical spectrum, literature review and case series from a tertiary care hospital in Pakistan