Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255.

Abstract

Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation. Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients. Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Oxidase
  • Atrophy
  • Brain Stem / pathology*
  • Cerebellum / pathology*
  • Disease Progression
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurologic Examination
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics
  • Peroxisomal Disorders / diagnosis*
  • Peroxisomal Disorders / genetics
  • Phenotype

Substances

  • Oxidoreductases
  • peroxisomal acyl-CoA oxidase
  • Acyl-CoA Oxidase