Department of Paediatrics and Adolescent Medicine, Pamela Youde Nethersole Eastern Hospital, 3 Lok Man Road, Chai Wan, Hong Kong SAR, China
LLY Tsung(曾莉茵) FHKCPaed, FHKAM(Paed)
SM Tai(戴淑梅) FHKCPaed, FHKAM(Paed)
KT Liu(廖鑑添) MRCP(Ire), FHKCPaed, FHKAM(Paed)
Joint CUHK-Baylor Centre of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
JSC Chong(莊淑貞) FHKCPaed, FHKAM(Paed)
Department of Paediatrics, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China
JSC Chong(莊淑貞) FHKCPaed, FHKAM(Paed)
Correspondence to: Dr LLY Tsung
Email: tly841@ha.org.hk
Received December 8, 2023
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.