Case of the Month: May 2026¶
Case history
- 25-year-old patient presented with a 6-month history of dysarthria and dystonia on a background of cirrhosis.
Click to reveal diagnosis
- MRI showed patchy T2/FLAIR hyperintensity in the deep grey nuclei and brainstem, with the characteristic "face of the giant panda" sign in the midbrain.
- SWI showed hypointensity in the globi pallidi from copper and iron deposition.
- Serum ceruloplasmin was low and 24-hour urinary copper excretion was elevated.
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Wilson's disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, and the combination of a movement disorder, liver disease, and the panda sign in a young patient is the classic diagnostic clue.