Juvenile Huntington's disease is a rare neurodegenerative disorder that first affects the basal ganglia. Presented here is a case of juvenile Huntington's disease in an 8-year-old male. Clinical features included epilepsy and developmental delay. Imaging findings showed severe atrophy of the caudate nuclei and putamina which prompted a genetic evaluation. The diagnosis was confirmed via molecular analysis which revealed the amplified CAG triplet characteristic of this disorder. This case report highlights the imaging features common in this rare cause of pediatric epilepsy.
|Original language||English (US)|
|Number of pages||3|
|Journal||Radiology Case Reports|
|State||Published - Jan 2021|
- Juvenile Huntington's disease
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging