[Frontal pseudo-tumoral form of adrenoleukodystrophy]

Rev Neurol (Paris). 2000 Nov;156(11):1017-9.
[Article in French]

Abstract

A case of adrenoleukodystrophy in a 9-year old boy revealed by a predominant frontal syndrome is reported. Brain MRI showed an unusual pseudo-tumoral frontal lesion. The diagnosis was confirmed by increased plasma levels of very long chain fatty acids. His young brother had an isolated adrenal insufficiency with normal brain MRI. The frontal predominance of the lesion and the clinical polymorphism of the disease in this family are discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adrenoleukodystrophy / blood
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics
  • Cerebrospinal Fluid Proteins / analysis
  • Child
  • Cognition Disorders / diagnosis
  • Fatty Acids / blood
  • Frontal Lobe / pathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Pedigree
  • Polymorphism, Genetic / genetics

Substances

  • Cerebrospinal Fluid Proteins
  • Fatty Acids