Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings

AJNR Am J Neuroradiol. 2009 Feb;30(2):386-8. doi: 10.3174/ajnr.A1282. Epub 2008 Oct 22.

Abstract

Neuroacanthocytosis is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis in the peripheral blood. Clinical manifestations of this disorder resemble those of Huntington disease (HD). Neuroimaging features of neuroacanthocytosis are atrophy and signal intensity change of the striata on MR imaging, as in HD. We report herein the cases of 2 siblings with neuroacanthocytosis showing cerebellar atrophy as well as atrophy and signal intensity changes of striata.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrophy
  • Cerebellar Diseases / etiology*
  • Cerebellar Diseases / pathology*
  • Cerebellum / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neostriatum / pathology
  • Neuroacanthocytosis / complications*
  • Neuroacanthocytosis / pathology*
  • Siblings