Question

A 13-year-old boy presents with jaundice, fatigue, muscle stiffness, tremors, behavioral changes, hepatosplenomegaly, and Kayser-Fleischer rings. Which test is definitive for the diagnosis?

• A. Urinary copper
• B. Serum ceruloplasmin
• C. Hepatic parenchymal copper concentration
• D. Genetic testing for ATP7B mutation

Hint:

For diagnosing Wilson's disease, serum ceruloplasmin levels are a key marker to confirm the diagnosis. This condition also presents with neurologic symptoms and hepatic enlargement.

Answer 1

The Correct Option is B

This child likely has Wilson's disease, a genetic disorder that leads to copper accumulation. The definitive diagnostic test is measuring the serum ceruloplasmin levels, as they are typically low in individuals with Wilson’s disease.