Hypotonia + Jaundice + Seizures + MR - USMLE Forums
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USMLE Step 1 Classic Clues Classic clues seen in clinical case scenarios in USMLE Step 1 questions.

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Old 01-03-2010
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Kids Hypotonia + Jaundice + Seizures + MR

If the case indicates an infant who shortly after birth develops jaundice, hepatomegaly, intractable seizures, facial abnormalities, hypotonia, developmental delay and later mental retardation, vision and hearing abnormalities, and deterioration of renal function then we have to think of Zellweger syndrome.

Zellweger syndrome is an autosomal recessive disorder in which there's abnormal development of peroxisomes which are the cellular organelles responsible for beta oxidation of very long chain fatty acids.
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Old 11-29-2011
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Cerebrohepatorenal syndrome
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Biochemistry-, Pediatrics-, Syndromes-Acronyms

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