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Wilson disease in a 19-year-old female
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Journal Article
Wilson disease in a 19-year-old female
2023
Overview
Wilson disease affects 1 in 30,000 live births and patients can present with symptoms at any age, although most cases are diagnosed before age 55 years. Most pediatric patients present with hepatic manifestations, while adults have hepatic manifestations with or without psychiatric or neurologic manifestations. In Wilson disease, the spectrum of liver disease at presentation can range from mild biochemical abnormalities to acute liver failure or cirrhosis. Common neurologic symptoms include dystonia, tremor or ataxia, while psychiatric symptoms can resemble paranoia, depression or schizophrenia. Kayser-Fleischer rings, which represent copper deposits in the Descemet membrane of the cornea, are a pathognomonic finding of Wilson disease. However, they can be absent in around 50% of patients with Wilson disease. Here, Chan and Tran examine the case of a 19-year-old with Wilson disease.
Publisher
Elsevier Inc,CMA Impact Inc,CMA Impact, Inc
