Paediatrics: Wilson’s disease

Wilson’s disease

A rare autosomal recessive disorder leading to toxic accumulation of cop-per in the liver and, subsequently, other tissues especially the brain and eye.

Presentation

•   Kayser–Fleischer rings (copper deposition in Descemet’s membrane of the eye) often present (45% with hepatic presentation and 90% with neurological) and are pathognomonic. May require slit-lamp examination to visualize.

•   Hepatic problems usually present in childhood (hepatitis, cirrhosis, fulminant hepatic failure).

•   Adolescents/young adults usually present with neurological disease.

Investigations

•   Serum copper and caeruloplasmin d.

•   24hr urinary copper excretion >100microgram (normal <40microgram).

•   Molecular genetic testing—Wilson’s disease gene (ATP7B) mutation.

Treatment

•   Lifelong chelation therapy with penicillamine (reverses pre-cirrhotic liver disease, but not neurological damage).

•   Liver transplantation if end-stage hepatic failure.