clinical features
Last reviewed 01/2018
Features are as follows:
- children usually present with liver disease
- young adults usually present with neurological problems
- Kayser-Fleischer rings are common but may be absent in young people with an acute presentation
- rarely, the lunulae of the nails are coloured blue from the increased copper
Hepatic involvement includes:
- fulminant hepatitis - with:
- progressive jaundice
- ascites
- hepatic and renal failure
- chronic active hepatitis:
- usually at 10 to 30 years of age
- neurological changes follow 2 to 5 years later
- cirrhosis - with spider naevi, splenomegaly, ascites and portal hypertension; neurological signs may be absent
Neurological problems include features of basal ganglia distubance:
- parkinsonian tremor and involuntary movements
- dysarthria
- often there is some psychiatric disturbance but intellectual function is usually preserved; in children this may manifest as poor performance at school.
There may be presentation with renal problems - the Fanconi's syndrome.