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Old 09-10-2012
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Arrow Gyrus Daily Questions; Pediatrics #40

An 18-year-old girl has hepatosplenomegaly, an intention tremor,dysarthria, dystonia, and deterioration in her school performance. She also developed abnormal urine with excess glucose, protein, and uric acid. She has a several-year history of elevated liver enzymes of unknown etiology. Which of the following best explains her condition?


a. Indian childhood cirrhosis
b. α1-antitrypsin deficiency
c. Menkes syndrome
d. Dubin-Johnson syndrome
e. Wilson disease
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Old 09-10-2012
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Could be E
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yes, she probably has wilson's disease, it covers all the symptoms, with affected liver, affected (most often basal ganglia) and I remember it vagly as also one cause of Fanconi syndrome
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My answer is E
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Old 09-10-2012
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Yes answer E Wilson
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