Key result
Four cases of moyamoya disease were identified among 500 patients with Down syndrome registered in a Genetic Clinic in India.
Case Report (n=4)
Highlights moyamoya disease as a potential cause of stroke in young children with Down syndrome, distinct from cardioembolic causes.
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May indicate moyamoya as stroke etiology in young DS patients; hypothesis-generating case series requiring confirmation.
Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients. Here we report four cases of moyamoya disease in young patients with DS aged 2-3½ years, of a total of 500 cases with DS registered in the Genetic Clinic.
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Panigrahi et al. (2018) conducted a case report in Down syndrome with moyamoya disease (n=4). Moyamoya disease was evaluated. Four cases of moyamoya disease were identified among 500 patients with Down syndrome registered in a Genetic Clinic in India.
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