Adult Cerebral Adrenoleukodystrophy and Addison's Disease in a Female Carrier

Gene. 2014 Jul 10;544(2):248-51. doi: 10.1016/j.gene.2014.04.056. Epub 2014 Apr 25.

Abstract

We described a 38-year-old woman of rapidly progressive dementia with white matter encephalopathy and death. She had Addison's disease but the adrenal glands were hyperplastic. Brain magnetic resonance imaging revealed diffuse white matter lesion predominantly in the frontal lobe with band-like contrast enhancement. l-Methyl-11C-methionine positron emission tomography revealed accumulation of tracer in bilateral frontal lobes. Stereotactic biopsy demonstrated demyelination changes. A number of urinary organic acids were elevated. Adrenoleukodystrophy was diagnosed by elevated plasma very long chain fatty acid and ABCD1 gene mutation (C1544C/T). Adrenoleukodystrophy should be considered as a differential diagnosis in women with rapidly progressive white matter encephalopathy.

Keywords: Addison's disease; Adrenoleukodystrophy; Dementia; Female carrier.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Addison Disease / genetics
  • Adrenal Glands / pathology
  • Adrenal Insufficiency / genetics
  • Adrenoleukodystrophy / diagnostic imaging
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology
  • Adult
  • Brain / diagnostic imaging
  • Brain / pathology
  • China
  • Coenzyme A Ligases / blood
  • Dementia / genetics
  • Fatal Outcome
  • Fatty Acids / blood
  • Female
  • Humans
  • Hypoadrenocorticism, Familial
  • Mutation, Missense
  • Positron-Emission Tomography

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids
  • Coenzyme A Ligases
  • long-chain-fatty-acid-CoA ligase