Diego Casali wrote:Angelman, this is Wilson's disease for sure! In Wilson's disease, the total copper concentration is decreased, owing to decreased ceruloplasmin, while the free copper level is increased. The confirmatory test is a liver biopsy with quantitation of copper, which will be increased. Please, check Goljan's lectures or notes or Rapid Review of Pathology about this topic: it is explained very well. 
I know this is a picture of Wilson disease.But rest assure the case in question is not.This is tricky .
Catch if you can
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| ed222
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Menkes disease but other symptoms need to be posted, or Indian childhood cirrhosis, non indian childhood cirrhosis, idiopathic copper toxicosis
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| Angelman
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Wilson is disease is a defect in P-type ATPase in the hepatocyts so that Cu cannot be excreted.
But this channel is not acitvated in first 3 months of neonatal life.So during that period biochemical markers resemble exactly with Wilson's disease but this is physiological .
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| Diego Casali
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"The differential diagnosis of Wilson's disease includes Huntington's disease, pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz disease), neuroacanthocytosis, infectious hepatitis, alcoholic hepatitis, mitochondrial cytopathy, and a rare familial disorder called aceruloplasminemia." (from Medscape)
Edited by Diego Casali on 11/27/06 - 05:09 AM
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| Diego Casali
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Angelman, thank you for your explanation!
Fortunately, a clinical vignette like this on USMLE Step 1 would have a more detailed description in the question stem and five anwers to choose between.
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