NBME 21 Answers : Block 1 : #2 = A 6-month-old girl is brought to the physician ...

NBME 21 Answers

nbme21/Block 1/Question#2

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

GM2

+10 upvote downvote
submitted by seagull(431),

! 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] +

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(125),

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(216),

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 +4

hungrybox thank u +

kjfhewiufh [special] +

+0 upvote downvote
submitted by burak(7),

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),

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

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

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