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Wilson's disease

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Author(s): Amirian MH

Journal: Iranian Journal of Pediatrics
ISSN 2008-2142

Volume: 2;
Issue: 7-8;
Start page: 147;
Date: 1986;
Original page

ABSTRACT
The reported case is a 9-year old female who was presented with following clinical signs and symptoms: Excessive salivation, difficulty in speaking and writing, deteriorating school performance, spasticity, dysarthria, dysphagia, tremor of the wrists and shoulders. The initial impression was Wilson's disease. Increased copper in the urine after 24 hour treatment with D-penicillamine, low serum copper level and low ceruloplasmin and presence of kayser-fleischer rings in ophthalmologic slit lamp examination confirmed the diagnosis of Wilson's disease and treatment with D-penicillamine was started. It is important to keep Wilson's disease in mind in evaluating patients with presentation similar to that of this patient. Wilson's disease is a recessively inherited defect of copper metabolism. In 70-805 of cases, the presenting clinical manifestations are hepatic or neurological. kayser-fleischer ring is present in 75% of children who present with hepatic symptoms and in all children with neurological changes. The histologic appearance of liver biopsy in Wilson's disease is not pathognomonic. The early diagnosis and treatment of Wilson's disease is extremely important, as effective therapy is available. D-penicillamine is the most effective drug in treating Wilson's disease.
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