welcome redditors!to snoo-finity ... and beyond!

NBME 24 Answers

nbme24/Block 2/Question#22

A 3-month-old boy is brought to the physician ...


Login to comment/vote.

 +10  upvote downvote
submitted by lsmarshall(200),

Zellweger syndrome - autosomal recessive disorder of peroxisome biogenesis due to mutated PEX genes. Hypotonia, seizures, hepatomegaly, early death (within 1 year). β-oxidation of VLCFA happens in peroxisomes so the child seemingly having some sort of congenital metabolic disorder with elevated VLCFAs should have been enough to get the answer without knowing about Zellweger.

jucapami  furthermore, FA 2019 pg 47 +