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

Vidhusree D1, Krithika Ap1

  • 1Pediatrics, Sree Balaji Medical College and Hospital, Chennai, IND.

Cureus
|September 2, 2024
PubMed

Insights

Wilson's disease, a genetic disorder of copper metabolism caused by ATP7B gene mutations, presented in a 12-year-old boy with neurological and liver symptoms. Early diagnosis and treatment are crucial for managing this rare neurometabolic condition.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Wilson's disease is an inherited disorder impacting copper metabolism due to ATP7B gene mutations.
  • It primarily affects the liver and brain, leading to copper accumulation.

Observation:

  • A 12-year-old boy from a consanguineous marriage presented with jaundice, poor academic performance, and behavioral changes.
  • Clinical examination revealed jaundice, Kayser-Fleischer rings, dystonia, and hepatosplenomegaly.

Findings:

  • While initial copper studies were inconclusive, neuroimaging confirmed characteristic findings of Wilson's disease.
  • The patient exhibited neurological and hepatic manifestations indicative of advanced disease.

Implications:

  • This case highlights the importance of considering Wilson's disease in pediatric patients with unexplained neurological and liver symptoms.
  • Prompt diagnosis and multidisciplinary management, including dietary changes and medication, are essential for improving patient outcomes.
  • Genetic counseling and family screening are vital due to the hereditary nature of Wilson's disease.

Keywords:
copper metabolismdystoniajaundicekayser-fleischer ringwilson's disease

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