Clinical Scenario:
A 12-year-old boy presents with progressive difficulty in school performance, personality changes, and intermittent tremors for the past 6 months. Examination reveals dysarthria, dystonia, and abnormal involuntary movements. Slit-lamp examination shows a brownish ring at the corneal margin. Liver function tests are mildly abnormal, and serum investigations reveal low ceruloplasmin levels with increased urinary copper excretion. Which of the following is the most appropriate initial treatment?
A) Levodopa therapy
B) Oral copper chelation therapy
C) Pyridoxine supplementation
D) Sodium benzoate therapy
E) Valproate therapy
Correct answer & Explanation:
Correct Answer:
B) Oral copper chelation therapy
Explanation:
This patient has Wilson disease, an autosomal recessive disorder caused by mutation of the ATP7B gene, leading to impaired copper excretion into bile and accumulation of copper in the liver, brain, and cornea.
Key findings:
- Childhood/adolescent onset
- Behavioral and psychiatric changes
- Movement disorders (tremor, dystonia, dysarthria)
- Kayser–Fleischer ring
- Low serum ceruloplasmin
- Increased urinary copper excretion
Why Option B is correct:
The initial treatment of symptomatic Wilson disease involves copper removal therapy:
- Chelators such as penicillamine or trientine bind excess copper and increase urinary excretion.
- Zinc therapy may be used to reduce intestinal copper absorption, especially for maintenance.
Why other options are incorrect:
A) Levodopa therapy
- Used for Parkinson disease; does not treat copper accumulation.
C) Pyridoxine supplementation
- Used in some metabolic disorders such as certain pyridoxine-dependent epilepsies, not Wilson disease.
D) Sodium benzoate therapy
- Used for urea cycle disorders with hyperammonemia.
E) Valproate therapy
- Used for epilepsy but may worsen liver disease and does not treat Wilson disease.
