Snapshot A 18-year-old man presents with a history of progressive slurred speech and hand tremor. He denies any changes in mood or behavior. Physical exam reveals dystonia, rigidity and bradykinesia. Inspection of the eyes reveals golden brown deposits in both corneas. Slit-lamp examination was performed. Liver function tests were elevated. Serum ceruloplasmin was low, and the 24 hour free urinary copper was markedly elevated. MRI showed abnormalities in the basal ganglia. Introduction Distinct physical finding of copper deposition in Descemet's membrane characteristic of Wilson's disease absence of Kayser-Fleischer (KF) rings does not exclude the diagnosis seen in almost all cases with neurologic symptoms seen in ~50% of cases with mainly hepatic symptoms Presentation Hepatic manifestations: asymptomatic with abnormalities in liver function tests acute or chronic hepatitis acute liver failure cirrhosis Neurological symptoms: dysarthria dystonia parkinsonism choreoathetosis drooling Psychiatric symptoms: depression disinhibition hallucinations and delusions Hematologic manifestations: coombs negative hemolytic anemia Physical exam corneal deposition on slit lamp exam Evaluation Serum ceruloplasmin level usually low (< 20 mg/dL) in the presence of KF rings, it is diagnostic for Wilson disease may be normal or elevated 24 hour urinary copper excretion elevated (> 100 mcg/day) MRI abnormal T2 signals in basal ganglia usually seen in patients with neuropsychiatric involvement more sensitive than CT Liver biopsy measures hepatic copper liver histology perform when diagnosis is unclear Treatment Decrease copper intake avoid chocolate, liver, broccoli, mushrooms Copper chelation therapy D-penicillamine trientine can be used as alternative therapy in patients who cannot tolerate D-penicillamine Zinc supplementation impairs copper absorption Liver transplant curative Prognosis, Prevention and Complications Prognosis Wilson's disease fatal if not treated dependent on severity of hepatic and neurologic manifestations dependent on medication adherence Prevention screening in asymptomatic patients with first degree family history screening newborns with parents or siblings with Wilson's disease Complications acute liver failure cirrhosis infertility osteoarthritis