Wilson disease in a 19-year-old female

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 man...

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Bibliographic Details
Published in:Canadian Medical Association journal (CMAJ) 2023-12, Vol.196 (1), p.E14-E16
Main Authors: Chan, Stephanie E, Tran, Audrey M
Format: Article
Language:English
Subjects:
Abdomen
Adult
Asymptomatic
Biopsy
Care and treatment
Chelating agents
Complications and side effects
Copper
Diagnosis
Evaluation
Female
Genetic testing
Hepatitis
Hepatolenticular Degeneration - complications
Hepatolenticular Degeneration - diagnosis
Humans
Liver cirrhosis
Liver diseases
Liver transplants
Medical tests
Metabolism
Patients
Practice
Ultrasonic imaging
Urine
Wilson's disease
Young Adult
Young adults
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Summary: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.
ISSN:0820-3946
1488-2329
DOI:10.1503/cmaj.231059