You are treating a 30-year-old patient for acute hepatitis and progressive chronic liver disease. Your patient also shows parkinsonian tremors, diminished facial muscle movement, and choreoathetosis. In taking the patient history you learn that he has become progressively more depressed and paranoid. Which of the following disorders most likely explains the signs and symptoms observed in this patient?

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Quizplus · Accepted Answer

Wilson disease is characterized by the accumulation of copper in the liver and brain, leading to hepatic and neurological symptoms such as liver disease, parkinsonian symptoms, and psychiatric disturbances. Wilson disease is the result of defects in the P-type ATPase protein that is primarily responsible for copper homeostasis within the liver. This protein is encoded by the ATPase, Cu²⁺-transporting, β-polypeptide (ATP7B) gene. ATP7B facilitates the transfer of copper to the major plasma copper transport protein, ceruloplasmin. In the liver, copper is stored intracellularly bound to the protein metallothionein. Any copper in excess of the binding capacity of metallothionein is excreted into the biliary canaliculi through the transport action of ATP7B. The majority of patients with Wilson disease present with hepatic or neuropsychiatric symptoms. The most significant sign in the diagnosis of Wilson disease results from the deposition of copper in Descemet's membrane of the cornea. These golden-brown deposits can be seen with a slit-lamp and are Kayser-Fleischer rings.

You Are Treating a 30-Year-Old Patient for Acute Hepatitis and Progressive