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 CASE REPORT
Year : 2015  |  Volume : 10  |  Issue : 3  |  Page : 276-279

Childhood-onset (Juvenile) Huntington's disease: A rare case report


Department of Pediatrics, ESI PGIMSR, ESIC Model Hospital, Andheri, Mumbai, Maharashtra, India

Correspondence Address:
Kailash Chandra Patra
1101 Gloriosa Aprtment, Agar Bazar, Dadar, Mumbai - 400 028, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.165709

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Huntington's disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine. As is expected in a case of childhood-onset HD, our patient is rapidly deteriorating and is currently in the terminal phase of his illness along with resistant convulsions.






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