NBME 21

nbme21/Block 1/Question#2

A 6-month-old girl is brought to the physician ...

GM2

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submitted by mcl(0),

Patient most likely has Tay-Sachs disease. This figure nicely shows the biochemical pathway. Recall that both Tay-Sachs and Neimann Pick disease present with a cherry red spot on fundoscopy, but Tay Sachs lacks the hepatosplenomegaly seen in NP.