Subcortical white matter abnormalities related to drug resistance in Wilson disease

Neurology. 2006 Sep 12;67(5):878-80. doi: 10.1212/01.wnl.0000234130.27871.03.

Abstract

Wilson disease (WD) produces typical lesions in the brain, which can aid in diagnosis and therapy. The authors present a drug-resistant WD case with atypical cerebral lesions with marked involvement of white matter as visualized on MRI scans. The diagnosis was confirmed by identification of mutations in the ATP7B gene. The case demonstrates an uncommon pathology-related cerebral copper accumulation and emphasizes the importance of genetic screening in the diagnosis of WD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Antidotes / therapeutic use
  • Brain / abnormalities*
  • Brain / pathology*
  • Cation Transport Proteins / genetics
  • Child
  • Copper-Transporting ATPases
  • Cysteine / genetics
  • Disease Progression
  • Drug Resistance*
  • Follow-Up Studies
  • Hepatolenticular Degeneration / drug therapy
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / pathology*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Penicillamine / therapeutic use

Substances

  • Antidotes
  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases
  • Penicillamine
  • Cysteine