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Journal of Pediatric Neurology 2019; 17(01): 028-030
DOI: 10.1055/s-0037-1608688
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Westphal Variant of Huntington's Disease

J. E. Cote-Orozco
1   Department of Pediatric Neurology, Instituto de Ortopedia Infantil Roosevelt, Universidad Militar Nueva Granada, Bogotá, Colombia
,
L. Cabarcas-Castro
2   Department of Pediatric Neurology, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia
,
J. L. Ramón-Gómez
2   Department of Pediatric Neurology, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia
,
A. M. Zarante-Bahamón
3   Department of Clinical Genetics, Instituto de Ortopedia Infantil Roosevelt, Bogotá, Colombia
,
O. Bernal-Pacheco
4   Division of Movement Disorders, Instituto de Ortopedia Infantil Roosevelt, Hospital Militar Central, Bogotá, Colombia
,
E. Espinosa-García
1   Department of Pediatric Neurology, Instituto de Ortopedia Infantil Roosevelt, Universidad Militar Nueva Granada, Bogotá, Colombia
› Author Affiliations
Further Information

Publication History

21 August 2017

12 October 2017

Publication Date:
13 November 2017 (online)

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Abstract

A Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

Keywords

juvenile Huntington's disease - HTT gene - CAG repeat expansion
 

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