A Case of Adult-Onset Adrenoleukodystrophy With Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene

Intern Med. 2012;51(11):1403-6. doi: 10.2169/internalmedicine.51.6899. Epub 2012 Jun 1.

Abstract

We report the case of a 48-year-old man with adult-onset adrenoleukodystrophy (ALD) who developed dementia with subacute onset. He was abulic, indifferent to his surroundings, and without insight with regards to his own disease. An elevated plasma very long chain fatty acid level and a novel point mutation IVS3+2t>g in the ABCD1 gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high intensity area in the white matter of the frontal lobes. Severe brain hypoperfusion in the frontal lobes was revealed. We believe that this is a rare case of adult-onset adrenoleukodystrophy with predominant frontal lobe dysfunction.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology*
  • Age of Onset
  • Dementia / genetics
  • Dementia / physiopathology
  • Fatty Acids / metabolism
  • Frontal Lobe / physiopathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Point Mutation*

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids