Wilson's Disease

[Dr.Sudan]

combination of Parkinsonism and chronic liver disease in a young person is highly suggestive of Wilson’s disease, also known as hepatolenticular degeneration. This is a rare, autosomal recessive disorder of copper metabolism. There is failure of copper excretion in bile, resulting in its accumulation in the body and deposition in certain areas, particularly the brain, basal ganglia, eyes and liver. It usually presents between the ages of 5 and 30 years. In children it tends to present with hepatic disease, whereas in adults neurological symptoms predominate. These include parkinsonism, tremor, choreoathetosis, dysarthria, fits and dementia. Kayser–Fleischer rings on the cornea are the most specific sign of Wilson’s disease although they may be absent in up to 50% of cases. They are due to copper deposition in Descemet’s membrane and appear as a green–brown discolouration at the corneo-scleral junction only usually visible on slit lamp examination. Serum caeruloplasmin is low in Wilson’s disease, but is sometimes normal and can also be reduced by advanced liver failure from any cause, so it is a non-specific test. Urinary copper excretion is increased (100–1000 mg/24 h). The diagnosis can also be made by liver biopsy. Treatment was previously with penicillamine in the main, although trientine is thought to be less toxic and is supplanting it in many cases