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Article Dans Anglais | IMSEAR | ID: sea-181997

Résumé

Wilson’s disease is an Autosomal recessive disorder of inborn error of copper metabolism in liver which results in accumulation of copper in the liver, brain, kidneys, eye and other organs affecting commonly children and young adults. Its incidence varied from 33 to 68 per 100,000 in India and 1 in 30,000– 40,000 in worldwide population. Mainstay of diagnosis primarily depends on clinical features, biochemical parameters, presence of Kayser-Fleischer (KF) ring. A middle aged man referred as spinocerebellar ataxia was incidentally found to be an exclusive case of Neuro Wilson’s without involvement of the liver and hence we intend to report this case for its rarity.

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