Neuro Wilson’s – An Alien Presentation.
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Date
2017-01
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Abstract
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.
Description
Keywords
Wilson, Neuro Wilson, ATP7B gene, ceruloplasmin, 24-hour urinary copper, Kayser-Fleischer (KF) ring, giant panda sign, miniature panda sign, double panda sign, diffuse atrophy, putamen, external capsule
Citation
Pradeepkumar Sivakami R, Rudrappa Ramesh Kumar, Rajakumar Sibhithran. Neuro Wilson’s – An Alien Presentation. Annals of International Medical and Dental Research. 2017 Jan-Feb; 3(1): 7-12.