Arrested Cerebral Adrenoleukodystrophy: A Clinical and Proton Magnetic Resonance Spectroscopy Study in Three Patients

Pediatr Neurol. 1996 Sep;15(2):103-7. doi: 10.1016/0887-8994(95)00156-5.

Abstract

We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N-acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy.

Publication types

  • Case Reports

MeSH terms

  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain / pathology
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / genetics*
  • Child
  • Choline / metabolism
  • Demyelinating Diseases / diagnosis
  • Demyelinating Diseases / genetics
  • Female
  • Humans
  • Inositol / metabolism
  • Lactic Acid / metabolism
  • Magnetic Resonance Spectroscopy*
  • Male
  • Peroxisomal Disorders / diagnosis
  • Peroxisomal Disorders / genetics*
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*

Substances

  • Aspartic Acid
  • Lactic Acid
  • Inositol
  • N-acetylaspartate
  • Choline