Wilson's Disease in Childhood and the Challenges in Its Diagnosis: A Case Report

被引:0
|
作者
Vidhusree, D. [1 ]
Krithika, A. P. [1 ]
机构
[1] Sree Balaji Med Coll & Hosp, Pediat, Chennai, India
关键词
kayser-fleischer ring; jaundice; dystonia; copper metabolism; wilson's disease;
D O I
10.7759/cureus.65847
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Wilson's disease is a genetic neurometabolic disorder affecting copper metabolism in the body. It occurs due to mutations in the ATP7B gene. Here, we report a case of a 12-year-old boy, born out of a second-degree consanguineous marriage, who presented with complaints of jaundice for the past one year, poor scholastic performance, and behavioral abnormalities for the past one month. There was a history of multiple suicides in the maternal family, and liver disorder in the maternal uncle. Various examinations revealed jaundice, Kayser-Fleischer ring in eyes, and dystonia of the extremities with hepatosplenomegaly. Copper studies were inconclusive, and neuroimaging showed characteristic findings specific for Wilson's disease. The child was treated with a low-copper diet, vitamin K, oral zinc acetate, oral D-penicillamine, trihexyphenidyl, baclofen, clonazepam, and propranolol.
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页数:12
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