Pathologic findings in adrenoleukodystrophy heterozygotes

Arch Pathol Lab Med. 1987 Feb;111(2):151-3.

Abstract

Two women, heterozygous for X-linked adrenoleukodystrophy, contained striated adrenocortical cells without inflammation and central nervous system demyelinative lesions. Only one was symptomatic neurologically; neither exhibited hypoadrenalism. These findings further document the variability of adrenoleukodystrophy heterozygotes and provide evidence that the major pathologic differences between hemizygote and heterozygote are quantitative in nature.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Glands / pathology
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / pathology*
  • Adult
  • Aged
  • Aged, 80 and over
  • Biopsy
  • Brain / pathology
  • Dementia / pathology
  • Diffuse Cerebral Sclerosis of Schilder / pathology*
  • Female
  • Genetic Linkage
  • Heterozygote*
  • Humans
  • X Chromosome