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

 


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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) 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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B) 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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C) 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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D) 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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E) 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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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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