title: Childhood-onset (Juvenile) Huntington's disease: A rare case report.
abstract: 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.
authors.affiliation: Department of Pediatrics, ESI PGIMSR, ESIC Model Hospital, Andheri, Mumbai, Maharashtra, India.
authors.forename: Kailash Chandra
authors.initials: KC
authors.lastname: Patra
authors.affiliation: Department of Pediatrics, ESI PGIMSR, ESIC Model Hospital, Andheri, Mumbai, Maharashtra, India.
authors.forename: Mukund Sudhir
authors.initials: MS
authors.lastname: Shirolkar
keywords: CAG repeat expansion; Juvenile Huntington's disease; magnetic resonance imaging; polymerase chain reaction