Wilson's disease

South Med J. 1997 May;90(5):535-8. doi: 10.1097/00007611-199705000-00015.

Abstract

We describe a patient who had severe neurologic symptoms, psychiatric abnormalities, and secondary amenorrhea superimposed on a history of hemolytic anemia and micronodular cirrhosis attributed to hemochromatosis. The correct diagnosis of Wilson's disease was delayed until the appearance of Kayser-Fleischer rings and a low serum ceruloplasmin level. Appropriate treatment ameliorated symptoms, and maintenance therapy has been effective in retarding progression. It is essential to consider Wilson's disease in patients with unexplained hepatic, neurologic, and psychiatric dysfunction, because appropriate early medical treatment can prevent further organ damage and reduce the risk of permanent damage to the liver and brain.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic / etiology
  • Brain / pathology
  • Female
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / pathology
  • Hepatolenticular Degeneration / therapy
  • Humans
  • Liver / pathology
  • Liver Cirrhosis / etiology
  • Magnetic Resonance Imaging
  • Nervous System Diseases / etiology