DrVirgo
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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
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B.
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| robin082006
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B
Wilson disease
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| paviraj
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WILSONS DISEASE - B
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| mjl1717
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Choreiform movements and Asterixis!!
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| drashishmahajan
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B
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| DrVirgo
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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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