Rare Variability in Adrenoleukodystrophy: A Case Report

J Med Case Rep. 2018 Jun 28;12(1):182. doi: 10.1186/s13256-018-1722-z.

Abstract

Background: X-linked adrenoleukodystrophy is a genetic disorder with diverse clinical phenotypes. Of these phenotypes, the cerebral form usually manifests during early childhood with rapid cognitive and neurological deterioration and is accompanied by extensive white matter involvement. Adrenomyeloneuropathy, however, usually affects young adults and has focal symptoms typical of spinal cord and peripheral nerve involvement.

Case presentation: A 35-year-old African American man with a history of alcohol abuse presented with personality changes and lower extremity weakness. Diffuse demyelination was found on the brain image, and a diagnosis of the cerebral form was made based on the clinical features and genetic test.

Conclusions: We report a rare case of adult-onset cerebral X-linked leukodystrophy with a clinical phenotype of adrenomyeloneuropathy, and the diagnosis was confounded by a history of alcohol abuse.

Keywords: ABCD1; Adrenoleukodystrophy; Adrenomyeloneuropathy; Phenotypes.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / diagnostic imaging*
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Alcoholism / complications*
  • Humans
  • Male

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1