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NBME 21 Answers

nbme21/Block 1/Question#2

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

GM2

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 +7  upvote downvote
submitted by seagull(355),

! I hate these with a burning F***ing passion. Thumbs up if you agree

mcl  Amen brother +  
praderwilli  Every morning: "I think i'll go over glycogen storage diseases, lysosomal storage diseases, and dyslipidemias after questions this afternoon." Every afternoon: Nah +8  
mcl  oh my god are you me +  
praderwilli  I recently found a program called Pixorize. It's pretty much Sketchy for biochem. Wish I discovered it sooner cuz it has helped for a lot of the painful things like this! +3  
tentorium  [special] +  
tentorium  [special] +  
tentorium  [special] +  
drhello  hello +  
burak  Cherry red spot basically means niemann-pick or tay sachs. Two differences between is: 1- No HSM in Tay Sachs, HSM in niemann-pick. 2- Both of them has muscle weakness but there is hyperreflexia in Tay Sachs, but areflexia in niemann pick disease. In stem cell HSM is not described and hyperreflexia noted. +  




 +4  upvote downvote
submitted by usmleuser007(87),

1) Very important to note that Tay-Sachs disease has more sensitive startle (moro) reflex in neonates with increased head circumference.

2) Fabry disease = tend to have audio-visual defects w/o liver involvement

3) Niemann-pick disease = anemia & hypotonia with areflexia





 +2  upvote downvote
submitted by mcl(169),

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] +  




 +0  upvote downvote
submitted by burak(3),

Cherry red spot basically means niemann-pick or tay sachs. Two differences between is: 1- No HSM in Tay Sachs, HSM in niemann-pick. 2- Both of them has muscle weakness but there is hyperreflexia in Tay Sachs, but areflexia in niemann pick disease. In stem cell HSM is not described and hyperreflexia noted.

burak  i mean, hyperacusis+hyperreflexia+sensitive startle +  




 +0  upvote downvote
submitted by awabnaeim(0),

I think the exaggerated startle in tay sachs is actually due to the hyperacusis, this is mentioned in first aid





 -1  upvote downvote
submitted by kjfhewiufh(-3),

[special]





 -1  upvote downvote
submitted by kjfhewiufh(-3),

[special]





 -1  upvote downvote
submitted by kjfhewiufh(-3),

[special]