유전자 분석으로 확진된 소아 Huntington병 1례

A Case of Juvenile Huntington's Disease Confirmed by Molecular Genetic Analysis

저자들은 10세 여아에서 사지의 불수의 운동, 경련, 정서장애, 경도의 계산력과 기억력의 감퇴, 상염색체 우성양상의 가족력 등 임상 소견과 유전자 분석으로 확진된 소아 헌팅톤병을 국내에서 처음으로 보고하는 바이다.

Huntington's disease(HD) is an autosomal dominantly inherited neurodegenerative disease, which is characterized by choreic movement and progressive dementia. HD is a disease caused by CAG repeat expansion of huntintin gene and definitely diagnosed or is excluded by molecular genetic analysis. Juvenile HD, of which onset is in children or young adult, is the most severely disabled type and shows several distinct clinical and genetic features in contrast to usual late-onset type. We report a 10 year-old girl who presented with involuntary movement, seizure and moderate dysarthria confirmed by molecular genetic analysis.