Hyperacusis in lysosomal storage disorders - USMLE Forums
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  #1  
Old 03-01-2011
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Listening Hyperacusis in lysosomal storage disorders

my question is
Is hyperacusis FOUND IN (Tay sach and Krabbe's disease)...
and if yes
whether hyperacusis may be a clue for the diagnosis of (Tay sach or Krabbes )
in cases about lipid storage disorders......?
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Old 03-01-2011
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Listening Tay Sachs

Just in Tay-Sachs, I think...

That would be a great clue for a question! All the question bank questions I've had about Tay-Sachs have either mentioned "cherry-red spot" or "hexosaminidase A", though...
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Old 03-01-2011
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Idea!

Quote:
Originally Posted by Mondoshawan View Post
Just in Tay-Sachs, I think...

That would be a great clue for a question! All the question bank questions I've had about Tay-Sachs have either mentioned "cherry-red spot" or "hexosaminidase A", though...
cherry red is a clue for nieman pick too
the differntiating point here is hepatospl++ & cx L.n++ which are ccc to NMP not in TS ds
also about Onion skin -->TS ds
arenot they.......???
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Old 03-01-2011
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Default

Quote:
Originally Posted by cerebrum85 View Post
cherry red is a clue for nieman pick too
yup, and sialidosis (rare, probably not high-yield)
Quote:
the differntiating point here is hepatospl++ & cx L.n++ which are ccc to NMP not in TS ds
also about Onion skin -->TS ds
arenot they.......???
Yes - all good clues! (except what is "cx L.n"?) I think I have had a question about 3-month-old with hepatosplenomegaly that had Niemann-Pick. Maybe in Robbins Review or Kaplan Qbank?

It's so hard to remember all the details of presentation... I can usually only remember two or three things about some of these and the rest just never makes it into long-term memory!
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Old 03-01-2011
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Quote:
Originally Posted by Mondoshawan View Post
yup, and sialidosis (rare, probably not high-yield)

Yes - all good clues! (except what is "cx L.n"?)
-->
cervical lymphadenopathy

Quote:
I think I have had a question about 3-month-old with hepatosplenomegaly that had Niemann-Pick. Maybe in Robbins Review or Kaplan Qbank?

It's so hard to remember all the details of presentation... I can usually only remember two or three things about some of these and the rest just never makes it into long-term memory!
yeah u r right may be i m talking in the dilemma of reading all about the ds
but sure focusing target high yield points should be target
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