Neurogenetic Syndromes 02

Topic: Pediatric

Created on Thursday, February 15 2007 by jdmiles

Last modified on Thursday, February 15 2007.

 
        A) Gaucher disease type I
 
        B) Hypothyroidism
 
        C) Hurler syndrome
 
        D) GM2 gangliosidosis
 
        E) Maple syrup urine 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

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A) Gaucher disease type I

This answer is incorrect.

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

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B) hypothyroidism

This answer is incorrect.

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

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C) Hurler syndrome

This answer is incorrect.

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

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D) 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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E) 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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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