CNS degeneration in infant with cherry red spot in eye !!! dx? EXPLN PLZ - USMLE Forums
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  #1  
Old 06-04-2012
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Neuro CNS degeneration in infant with cherry red spot in eye !!! dx? EXPLN PLZ

At birth, an infant is noted to have an abnormal neurologic examination.
Over the next few weeks he develops severe progressive central nervous system
(CNS) degeneration, an enlarged liver and spleen, macroglossia, coarse facial
features, and a cherry-red spot in the eye. Which of the following laboratory
findings most likely explains this child’s problem?
a. Reduced serum hexosaminidase A activity
b. Deficient activity of acid β-galactosidasea
c. Defective gene on the X chromosome
d. Complete lack of acid β-galactosidase activity
e. Deficient activity of galactosyl-3-sulfate-ceramide sulfatase (cerebroside sulfatase)
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  #2  
Old 06-04-2012
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I feel its Neimann pick disease since u have cherry red spot( two possible causes- neimann pick and tay sachs) and since on examination we find hepatospenomegaly, i narrowed it down to neimann....in tay sachs there is no hepatospenomegaly

but there is no option related to neimann pick disease- sphingomyelinase def???????
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Old 06-04-2012
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red spots are suggestive of tay- sacchs hence hexoaminidase deficiency, enlarged spleen and liver points also to niemann pick but i think the main point is the red spots and moreover there isn't shingomyelinase in the options
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Old 06-04-2012
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No clue! :S
E?
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  #5  
Old 06-04-2012
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Quote:
Originally Posted by tyagee View Post
At birth, an infant is noted to have an abnormal neurologic examination.
Over the next few weeks he develops severe progressive central nervous system
(CNS) degeneration, an enlarged liver and spleen, macroglossia, coarse facial
features, and a cherry-red spot in the eye. Which of the following laboratory
findings most likely explains this child’s problem?
a. Reduced serum hexosaminidase A activity
b. Deficient activity of acid β-galactosidasea
c. Defective gene on the X chromosome
d. Complete lack of acid β-galactosidase activity
e. Deficient activity of galactosyl-3-sulfate-ceramide sulfatase (cerebroside sulfatase)
really really confusing q

isn't it G M1-gangliosidosis type I?
so ß-galactosidase would be deficient?
b)
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Old 06-04-2012
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Quote:
Originally Posted by tyagee View Post
At birth, an infant is noted to have an abnormal neurologic examination.
Over the next few weeks he develops severe progressive central nervous system
(CNS) degeneration, an enlarged liver and spleen, macroglossia, coarse facial
features, and a cherry-red spot in the eye. Which of the following laboratory
findings most likely explains this child’s problem?
a. Reduced serum hexosaminidase A activity
b. Deficient activity of acid β-galactosidasea
c. Defective gene on the X chromosome
d. Complete lack of acid β-galactosidase activity
e. Deficient activity of galactosyl-3-sulfate-ceramide sulfatase (cerebroside sulfatase)
There r only 2 lysosomal storage diseases casuing cherry red spot! Nieman Pick's and Tay-sach's!
Since sphingomyelinase isnt in the options, it HAS to b TAY SACH'S .. ie reduced hexosaminidase
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  #7  
Old 06-04-2012
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It's from kaplan qbank pathology section
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