Clinical scenario: declining school performance | jaundice |hepatosplenomegaly
A 13-year-old boy is brought with a 6-month history of declining school performance, progressive slurred speech, and abnormal involuntary movements of both hands. Over the past month, he has developed jaundice and abdominal distension. Examination reveals hepatosplenomegaly, dystonia, dysarthria, and a brownish ring at the corneal periphery on slit-lamp examination. Laboratory investigations show: Hb 9.2 g/dL, total bilirubin 4.6 mg/dL, AST 112 U/L, ALT 95 U/L, INR 2.1, and a negative direct Coombs test. Brain MRI demonstrates symmetrical T2 hyperintensities in the basal ganglia.
What is the most likely diagnosis?
A. Autoimmune hepatitis
B. Huntington disease
C. Mitochondrial encephalopathy
D. Wilson disease
E. Wilson syndrome
Correct answer & Explanation:
Correct answer: D. Wilson disease
Explanation
This adolescent has the classic manifestations of Wilson disease, an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to impaired biliary copper excretion and copper accumulation in the liver, brain, and cornea.
Key diagnostic clues include:
- Chronic liver disease with jaundice
- Progressive neurological symptoms (dystonia, dysarthria, tremor)
- Kayser–Fleischer rings on slit-lamp examination
- Coombs-negative hemolytic anemia
- Basal ganglia abnormalities on MRI
The diagnosis is confirmed by a combination of low serum ceruloplasmin, increased 24-hour urinary copper excretion, and/or elevated hepatic copper concentration. Genetic testing for ATP7B can provide confirmation.
Why the other options are incorrect
- A. Autoimmune hepatitis – Can cause chronic hepatitis but does not explain basal ganglia involvement, Kayser–Fleischer rings, or Coombs-negative hemolysis.
- B. Huntington disease – Rare in children and does not cause liver disease or corneal copper deposition.
- C. Mitochondrial encephalopathy – May cause neurological deficits but is not associated with chronic liver disease and Kayser–Fleischer rings.
- E. Wilson syndrome – This is not a recognized medical diagnosis and is included as a distractor.
High-yield pearl
Wilson disease should be suspected in any child or adolescent with otherwise unexplained liver disease, movement disorder, psychiatric symptoms, or Coombs-negative hemolytic anemia. Early treatment with chelating agents (D-penicillamine or trientine) or zinc therapy can prevent irreversible neurological and hepatic damage.
