iatroX Rounds #7
The clues
- 1
A 21-year-old man is brought to the clinic because his personality has changed over the last six months, and he is now struggling with his university coursework.
- 2
His speech has become slightly slurred, and he has developed a fine tremor that is particularly noticeable when he tries to write.
- 3
Routine blood tests show a mild, unexplained increase in transaminases, though his alkaline phosphatase remains remarkably low for his age.
- 4
On physical examination, he demonstrates a coarse tremor when his arms are abducted and flexed, alongside new-onset parkinsonian features and dysarthria.
- 5
A specialist slit lamp examination of the eyes reveals golden-brown deposits in the periphery of the cornea.
- 6
Investigations confirm a significantly reduced serum ceruloplasmin level and increased 24-hour urinary copper excretion.
Wilson's disease is an autosomal recessive condition caused by a mutation in the ATP7B gene, leading to impaired biliary copper excretion and systemic accumulation. This typically presents in adolescents or young adults with a combination of hepatic, neurological, and psychiatric manifestations.
- Neuropsychiatric symptoms including tremor, dysarthria, and personality changes
- Chronic liver disease, cirrhosis, or acute liver failure in young patients
- Kayser-Fleischer rings, which are copper deposits in the Descemet membrane
- Low serum ceruloplasmin and high urinary copper
for education and entertainment. not medical advice.