Adrenoleukodystrophy: heterogeneity in two brothers

J Neurol Neurosurg Psychiatry. 1989 Mar;52(3):310-3. doi: 10.1136/jnnp.52.3.310.

Abstract

A man with hypoadrenalism died from a rapidly progressive pseudobulbar palsy, due to adult onset adrenoleukodystrophy. This diagnosis suggested that his brother, with a longstanding spastic paraparesis, suffered from adrenomyeloneuropathy. Both cases were confirmed biochemically. The heterogeneity of expression of this x-linked disorder is described, with the consequent difficulty in diagnosis and nomenclature.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Adult
  • Brain / pathology
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Genes, Recessive
  • Genetic Carrier Screening*
  • Genetic Linkage
  • Humans
  • Inclusion Bodies / ultrastructure
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Myelin Sheath / pathology
  • Sex Chromosome Aberrations / genetics
  • Tomography, X-Ray Computed
  • X Chromosome