In Wilson’s disease, all are seen except
Correct Answer: Peripheral neuropathy
Description: Wilson's disease (hepatolenticular degeneration) is a rare but impoant autosomal recessive disorder of copper metabolism caused by a variety of mutations in the ATP7B gene on chromosome 13. Total body copper is increased, with excess copper deposited in, and causing damage to, several organs. Normally, dietary copper is absorbed from the stomach and proximal small intestine and is rapidly taken into the liver, where it is stored and incorporated into caeruloplasmin, which is secreted into the blood. The accumulation of excessive copper in the body is ultimately prevented by its excretion, the most impoant route being bile. In Wilson's disease, there is almost always a failure of synthesis of caeruloplasmin; however, some 5% of patients have a normal circulating caeruloplasmin concentration and this is not the primary pathogenic defect. The amount of copper in the body at bih is normal but thereafter it increases steadily; the organs most affected are the liver, basal ganglia of the brain, eyes, kidneys and skeleton . Clinical features Neurological disease - Clinical features include a variety of extrapyramidal features, paicularly tremor, choreoathetosis, dystonia, parkinsonism and dementia .Unusual clumsiness for age may be an early symptom. Liver disease - Episodes of acute hepatitis, sometimes recurrent, can occur, especially in children, and may progress to fulminant liver failure. The latter is characterised by the liberation of free copper into the blood stream, causing massive haemolysis and renal tubulopathy. Chronic hepatitis can also develop insidiously and eventually present with established cirrhosis; liver failure and poal hypeension may supervene. Kayser-Fleischer rings -These constitute the most impoant single clinical clue to the diagnosis and can be seen in 60% of adults with Wilson's disease .Ref - Davidsns internal medicine 23e p896
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