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

Abstract

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.

Figure 1

Magnetic Resonance Angiogram showing bilateral stenosis suggestive of Moya Moya Disease.

Figure 2

Angiogram showing stenosis of the supraclinoid ICA and MCA consistent with Moya Moya Disease.

Figure 3

Cerebral Angiogram showing the "puff of smoke" that comprises the abnormal collaterals.