Adrenoleukodystrophy: unusual clinical and radiographic manifestation

South Med J. 1998 Aug;91(8):770-4.

Abstract

Adrenoleukodystrophy is an X-linked recessive peroxisomal disorder, characterized by progressive neurologic deterioration due to cerebral white matter demyelination and adrenal insufficiency. Onset is usually in childhood between ages 5 and 10, and its course is fatal within approximately 5 years. Initial symptoms are behavioral, gait, and auditory disturbances and may be a diagnostic dilemma. Abnormally raised plasma very long chain fatty acids (VLCFA) are diagnostic; computed tomography and magnetic resonance imaging findings show symmetrical occipital white matter lesions which progress in a rostralcaudal direction.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / diagnostic imaging
  • Brain / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Tomography, X-Ray Computed