Wilson's disease--unusual features

Indian J Pediatr. 2004 Oct;71(10):937-8. doi: 10.1007/BF02830841.

Abstract

Two cases of Wilson's disease with unusual features are reported. In one case neurological abnormality was the presenting feature without any clinical involvement of the liver. In the other case, neurologic manifestations were associated with rickets and cholelithiasis, a result of chronic hemolytic state. Apart from clinical profile both the cases were diagnosed by grossly reduced serum ceruloplasmin level. However, Kayser-Fleischer rings were found in each case.

Publication types

  • Case Reports

MeSH terms

  • Aphonia / etiology
  • Child
  • Cholelithiasis / etiology
  • Corneal Diseases / etiology
  • Dystonic Disorders / etiology
  • Female
  • Hepatolenticular Degeneration / diagnosis*
  • Humans
  • Rickets / etiology