Rare Paediatric Manifestations of Wilson's Disease: A Case Report and Review
Year: 2025
Type: article
Abstract: Introduction-Wilson disease, or hepatolenticular degeneration, is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper accumulation in various organs, particularly the liver and brain. The clinical presentation is highly variable, often involving hepatic, neurological, and psychiatric symptoms, making diagnosis challenging. Early recognition and treatment are crucial to prevent irreversible organ damage. This review and case report aims to highlight the pathophysiology, diagnostic challenges and importance of early intervention in a paediatric case of Wilson disease. Case Presentation-A 10-year-old boy presented with symptoms including vomiting, abdominal pain, decreased urine output, and weight loss over the preceding two months. He also reported greying of hair. On examination, hepatomegaly and moderate dehydration were noted. Laboratory tests revealed electrolyte imbalances, elevated liver enzymes (SGPT, SGOT), increased ammonia levels, and low ceruloplasmin, suggestive of hepatic dysfunction. Imaging studies confirmed hepatomegaly and fatty liver changes. The diagnosis of Wilson disease was made based on these findings. The patient was treated with copper chelation (D-penicillamine), zinc acetate to reduce copper absorption, and supportive therapies for liver function and ammonia reduction. The patient showed significant clinical improvement during hospitalization and was discharged stable.
Author: Chetan Deore*, Twinkle Badlani
Language: English
Topic: Trace Elements in Health
Subfield: Nutrition and Dietetics
Field: Nursing
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6912100990
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