Table of Contents

HK J Paediatr (New Series)
Vol 29. No. 4, 2024

HK J Paediatr (New Series) 2024;29:262-265

Case Report

An Early Presentation of a Chinese Boy with (Childhood-Onset) Juvenile Huntington Disease

LLY Tsung, SM Tai, JSC Chong, KT Liu


Abstract

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder which is characterised by progressive motor, cognitive and psychiatric disturbances in adults. The prevalence of HD in childhood onset (<10 years old) is low and the presentation mimics other neurological disease which makes diagnosis difficult in children. We present a case of (Childhood-Onset) Juvenile Huntington disease of a 6-year-old boy in Hong Kong. This case report provides clinical evidence of HD presentation at childhood-onset patients in our locality. It also illustrates the atypical presentation of childhood onset HD. Early genetic confirmation, multidisciplinary care with symptomatic treatment are crucial for patient care.

Keyword : Dystonia; Epilepsy; Huntington; Regression


 
 

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