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Neurogenetic Syndromes 02

Topic: Pediatric

Created on Thursday, February 15 2007 by jdmiles

Last modified on Thursday, February 15 2007.

A cherry-red spot on the macula is most typical of which of the following disorders?

 
        A) Gaucher disease type III
 
        B) GM2 gangliosidosis
 
        C) Hypothyroidism
 
        D) Maple syrup urine disease
 
        E) Krabbe disease
 

 


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This question was created on February 15, 2007 by jdmiles.
This question was last modified on February 15, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Gaucher disease type III

This answer is incorrect.


A cherry-red spot is not a typical finding in Gaucher disease type III.  (See References)

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B) GM2 gangliosidosis

This answer is correct.


A cherry-red spot on the macula is found in several disorders, and is not specific for any one. Disorders associated with a cherry-red spot include: farber lipogranulomatosis, GM1 gangliosidosis, GM2 gangliosidosis (Sandhoff and Tay-Sachs disease), metachromatic leukodystrophy, Niemann-Pick disease, sialidosis type III, and central retinal artery occlusion.  (See References)

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C) hypothyroidism

This answer is incorrect.


A cherry-red spot is not a typical finding in hypothyroidism.  (See References)

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D) maple syrup urine disease

This answer is incorrect.


A cherry-red spot is not a typical finding in maple syrup urine disease.  (See References)

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E) Krabbe disease

This answer is incorrect.


A cherry-red spot is not a typical finding in Krabbe disease.  (See References)

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References:

1. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia.
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pediatric
Neurogenetic Syndromes 02
Question ID: 021507202
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/15/2007
Modified: 02/15/2007
Estimated Permutations: 201600

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