MR imaging and spectroscopy in juvenile Huntington disease

Pediatr Radiol. 2004 Aug;34(8):640-3. doi: 10.1007/s00247-004-1159-y. Epub 2004 Mar 23.

Abstract

Juvenile Huntington disease manifests differently from adult Huntington disease and has more variability in presentation. We describe a child with cognitive decline and adventitial movements in whom Huntington disease was confirmed with genetic testing. MR imaging showed abnormal T2 prolongation in the putamina and progressive caudate atrophy, and MR spectroscopy revealed elevated myoinositol and diminished N-acetyl aspartate, creatine, and phosphocreatine. Imaging findings of caudate atrophy and abnormal T2 prolongation in the putamina with MR spectroscopy findings consistent with dense gliosis can be helpful indicators of juvenile Huntington disease.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / metabolism
  • Brain / metabolism
  • Brain / pathology*
  • Caudate Nucleus / pathology
  • Child
  • Creatinine / metabolism
  • Genetic Testing
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / metabolism
  • Huntington Disease / pathology
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male
  • Putamen / pathology

Substances

  • Aspartic Acid
  • N-acetylaspartate
  • Creatinine