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Refsum Disease 01

Topic: Pediatric

Created on Saturday, October 18 2008 by jdmiles

Last modified on Saturday, October 18 2008.

Which of the following statements about Refsum disease is most accurate?

 
        A) It is a disorder of the metabolism of very long chain fatty acids
 
        B) It is a disorder of the metabolism of pyruvate
 
        C) Typical early symptoms include gait ataxia, limb weakness, seizures, and peripheral neuropathy.
 
        D) Typical disease manifestations include gait ataxia, limb weakness, night blindness, and peripheral neuropathy.
 
        E) There is no effective means of treatment
 

 


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This question was created on October 18, 2008 by jdmiles.
This question was last modified on October 18, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) it is a disorder of the metabolism of very long chain fatty acids

This answer is incorrect.


Refsum disease is a disorder of the metabolism of phytanic acid.  (See References)

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B) it is a disorder of the metabolism of pyruvate

This answer is incorrect.


Refsum disease is a disorder of the metabolism of phytanic acid.  (See References)

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C) typical early symptoms include gait ataxia, limb weakness, seizures, and peripheral neuropathy.

This answer is incorrect.


Seizures do not typically occur as a result of Refsum disease.  (See References)

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D) typical disease manifestations include gait ataxia, limb weakness, night blindness, and peripheral neuropathy.

This answer is correct.


Characteristic signs and symptoms of Refsum disease include night blindness, limb weakness, gait ataxia, and peripheral neuropathy.  (See References)

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E) There is no effective means of treatment

This answer is incorrect.


Phytanic acid is not synthesized in the body. Consequently, dietary restriction can result in successful management of Refsum disease.  (See References)

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References:

1. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia. (ISBN:0683304747)Advertising:
2. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia. (ISBN:1416001697)Advertising:
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pediatric
Refsum Disease 01
Question ID: 101808142
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/18/2008
Modified: 10/18/2008
Estimated Permutations: 176400

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