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A Non-Alcoholic Veering!

Topic: Adult

Created on Monday, October 27 2008 by rednucleus

Last modified on Monday, October 27 2008.

A 16-year-old male has been referred to the neurology outpatient clinic because of "recurrent loss of consciousness." He has reeling gait, lost ankles, and up-planters with pes cavus. His speech is dysarthric. Which one of the following is consistent with the diagnosis of Friedreich's ataxia?

 
        A) Recurrent hypoglycemia
 
        B) Wasting of right thenar eminence and left-sided wrist drop
 
        C) Minimental status examination score of 29
 
        D) Bilateral ptoses
 
        E) Retinal AV nipping and silver-wiring of retinal arterioles
 

 


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This question was created on October 27, 2008 by rednucleus.
This question was last modified on October 27, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Recurrent hypoglycemia

This answer is incorrect.


Hyperglycemia and diabetes might occur; therefore, FA patients may present with polyuria and polydipsia on the background of their "long-term undiagnosed neurological illness!"  (See References)

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B) Wasting of right thenar eminence and left-sided wrist drop

This answer is incorrect.


Friedreich's ataxia neither causes entrapment neuropathy nor mononeuritis multiplex; it results in large-fiber peripheral polyneuropahty.  (See References)

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C) Minimental status examination score of 29

This answer is correct.


Friedreich's ataxia is not a dementing illness; therefore MMSE score is expected to be normal. Note that his lapses of consciousness are due to cardiac involvement with dysrrhythmias (and are not due to seizures).  (See References)

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D) Bilateral ptoses

This answer is incorrect.


Ocular involvement should cast a strong doubt on Friedreich's ataxia. Ophthalmoplegia (and exophthalmos) are seen Machado-Joseph (type 3 SCA) disease.  (See References)

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E) Retinal AV nipping and silver-wiring of retinal arterioles

This answer is incorrect.


Hypertension is not a recognized feature of Friedreich's ataxia (FA). FA may result in retinitis pigmentosa and optic atrophy.  (See References)

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References:

1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. (ISBN:0070674973)Advertising:
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adult
A Non-Alcoholic Veering!
Question ID: 102708100
Question written by rednucleus. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 10/27/2008
Modified: 10/27/2008
Estimated Permutations: 120

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