Wilson's disease is a rare, autosomal recessive disorder first described by Kinnear-Wilson in 1912. In the 1940's the defect in copper metabolism was noted. It is characterised by:
- the accumulation of copper in the liver, basal ganglia, eye and other organs
- a low serum caeruloplasmin level
In Wilson's disease there are two fundamental defects in the metabolism of copper:
- the rate of incorporation of copper into caeruloplasmin is reduced
- the rate of biliary excretion of copper is reduced
Classically, patients present with neurological disturbance, hepatic cirrhosis and Kayser-Fleischer rings.
- clinical manifestations of Wilson's Disease are extremely diverse
- in the first decade of life patients presents more frequently with hepatic manifestations. After the age of 20 years 75% of patients present with neurological manifestations and 25% with both hepatic and neuropsychiatric manifestations (2)
- age of onset is usually 11-13 years (3)
- runs an invariably fatal course if not adequately treated by chelating agents
The condition is treatable and all young patients with cirrhosis should be screened.
- Walshe JM, Vinken PJ, Bruyn GW, Klawans HL. Wilson's disease. In: Handbook of Clinical Neurology. Vol. 49. Amsterdam: Elsevier;1986. p. 223-38
- Ferenci P, Caca K, Loudianos. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23 : 139-42.
- Sinha S, Taly AB, Ravishankar S, Prashanth LK, Venugopal KS, Arunodaya GR, et al. Wilson's disease: Cranial MRI observations and clinical correlation. Neuroradiology 2006;48:613-21.