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hardwilson-diseasecopper-metabolismkayser-fleischer-ringsneuropsychiatrichepatolenticular-degeneration
A 19-year-old male college freshman is brought to the clinic by his parents for evaluation of a 6-month history of declining academic performance, personality change, and increasing irritability. Previously a high-achieving student, he has become impulsive, apathetic, and has had several uncharacteristic angry outbursts. His parents also note subtle hand tremor and difficulty with handwriting. He was recently evaluated by his primary care provider for mildly elevated transaminases (AST 68, ALT 74) of unclear etiology. On examination, he has mild bilateral wing-beating tremor with arms outstretched, dysarthric speech, and a slit-lamp examination reveals golden-brown rings at the periphery of both corneas. Serum ceruloplasmin level is 8 mg/dL (normal 20-40 mg/dL), and 24-hour urine copper is markedly elevated. Which of the following is the most likely diagnosis?
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