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DrVirgo
Forum Junior  Topics: 731 Posts: 3487 |
A 21-year-old college student comes to the clinic concerned about a new tremor and increased difficulty concentrating. He has a history of behavioral disorders since high school and a previous diagnosis of attention deficit hyperactivity disorder (ADHD), but recently things have become much worse. Over the past year he has developed a tremor in both arms and difficulty concentrating. He has felt increasingly distant from friends, who have found his behavior to be odd and different, though he himself has noticed no change, aside from perhaps some mild irritability. A review of symptoms reveals some mild dysphagia, episodic dysarthria, and evidence of mild depression. His past medical history, aside from the ADHD, is significant for autoimmune liver disease treated with steroids. Ocular examination is remarkable for a dark greenish-brown deposit surrounding the iris. Abdominal palpation reveals marked hepatosplenomegaly; neurologic exam shows a mild tremor, dysmetria, and an ataxic gait.Which of the following is an expected laboratory abnormality in this patient that can be used to diagnose his disease? (A) Elevated serum copper concentration (B) Elevated urinary copper excretion (C) Increased circulating serum ceruloplasmin (D) Low amount of circulating free copper (E) Reduced hepatic copper concentration
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young_doc
| Forum Guru  Topics: 59 Posts: 718
B.
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robin082006
| Forum Hero  Topics: 468 Posts: 5028
B Wilson disease
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paviraj
| Forum Junior Topics: 1 Posts: 57
WILSONS DISEASE - B
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mjl1717
| Forum Junior  Topics: 964 Posts: 5442
Choreiform movements and Asterixis!!
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drashishmahajan
| Forum Senior Topics: 6 Posts: 87
B
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DrVirgo
| Forum Junior Topics: 731 Posts: 3487
B. This patient has Wilson disease, a defect in biliary copper excretion that results in copper accumulation and toxicity in a variety of organs.Wilson disease should be considered in any young individual with new-onset psychiatric and neurologic dysfunction. The initial presentation is often insidious, and patients are commonly misdiagnosed with ADHD when neuropsychiatric symptoms predominate, or with autoimmune liver disease when hepatic dysfunction is the presenting picture. The most common initial neurologic signs are usually behavioral changes, dysarthria, and dysphagia. Psychosis and depression are common behavioral changes. It is notable that this patient has a Kayser- Fleisher ring, a ring around the iris of dense brown or green copper deposition that is a pathognomonic sign of Wilson disease. The massive, total-body copper overload results in increased urinary excretion of copper. Laboratory diagnosis involves finding increased urinary copper along with decreased ceruloplasmin. Equivocal tests can be clarified with a liver biopsy, which should show increased amounts of cellular copper.
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