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 CASE REPORT
Year : 2018  |  Volume : 13  |  Issue : 2  |  Page : 201-204

Down syndrome with moyamoya disease: A case series


1 Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Inusha Panigrahi
Genetic Metabolic Unit, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_116_17

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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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