MRI findings in juvenile Huntington's disease

Patrick Arraj, Kyle Robbins, Lauren Dengle Sanchez, Daniel L. Veltkamp, Cory M. Pfeifer

Research output: Contribution to journalArticlepeer-review

Abstract

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 languageEnglish (US)
Pages (from-to)113-115
Number of pages3
JournalRadiology Case Reports
Volume16
Issue number1
DOIs
StatePublished - Jan 2021

Keywords

  • Juvenile Huntington's disease

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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