Abstract
Moyamoya phenomenon is a term used to describe extensive collateralization of the circle of Willis arteries associated with severe unilateral or bilateral internal carotid artery stenosis or occlusion in the presence of certain conditions. Down syndrome is among these conditions. A case is reported of a young girl with Down syndrome who presented with fluctuating right-sided weakness and facial droop found to have cerebral ischemia. Subsequent investigations disclosed characteristic "puff of smoke" patterns on angiographic studies consistent with moyamoya phenomenon. The patient was initially treated with aspirin and eventually underwent an encephalomyosynangiosis. This young patient with Down syndrome and moyamoya phenomenon serves as a reminder of the association between these two conditions.
Highlights
Moyamoya disease is a nonatherosclerotic and noninflammatory condition characterized by progressive stenosis of the terminal internal carotid artery and the proximal portions of the anterior cerebral and middle cerebral arteries
Moyamoya disease is a noninflammatory, non-vasculitic and nonatherosclerotic condition characterized by progressive stenosis of intracranial arteries
The largest and most recent study to date of long-term outcome of surgical revascularization in Downs syndrome patients with moyamoya suggests that clinical, radiologic, and angiographic features of moyamoya phenomenon associated with Down syndrome are comparable to those of idiopathic moyamoya disease
Summary
Moyamoya disease is a nonatherosclerotic and noninflammatory condition characterized by progressive stenosis of the terminal internal carotid artery and the proximal portions of the anterior cerebral and middle cerebral arteries. A 4 and 1/2 year old Mexican girl with Down syndrome presented to the emergency department of a local tertiary care center with symptoms of fluctuating right arm weakness and difficulty smiling that started approximately 4 hours before admission. Her parents found her in bed that morning and noted that she had difficulty playing with one of her dolls because she kept dropping them with her right hand. The patient was given aspirin 81 mg po qd and physical therapy She was discharged home and eventually underwent an an encephalomyosynangiosis. Her initial outcome post-operatively was satisfactory but she was lost to follow-up
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