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submitted by mcl(185),

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.

hungrybox  Man this is such a nice figure except it doesn't have Krabbe disease :( +  
mcl  Here's another one with Krabbe! :) https://epomedicine.com/wp-content/uploads/2017/01/lysosomal-storage-diseases-enzyme-defects.jpg +3  
hungrybox  thank u +  
kjfhewiufh  [special] +