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Guess the disease!

Topic: Behavior

Created on Wednesday, February 21 2007 by jdmiles

Last modified on Wednesday, February 21 2007.

GUESS WHAT I'M THINKING!

I'm thinking of a disorder characterised by painless twitching of the muscles on one side of the face (in 5%, bilateral, but asynchronous when it is). Usually caused by arterial compression of the facial nerve, which results in focal demyelination followed by ephaptic coupling of parallel axons. It can also result from Bell's palsy. Medcial treatments include Carbemazepine, baclofen, gabapentin and botulinum toxin. Surgical decompression of the nerve is a highly successful procedure, with some risks, including monaural deafness.
What disease am I thinking of?

 
        A) Hemifacial Spasm
 
        B) Riley-Day Syndrome
 
        C) Asperger Syndrome
 
        D) Wernicke's Encephalopathy
 
        E) Alexander Disease
 

 


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This question was created on February 21, 2007 by jdmiles.
This question was last modified on February 21, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Hemifacial Spasm

This answer is correct.


Hemifacial Spasm is a disorder characterised by painless twitching of the muscles on one side of the face (in 5%, bilateral, but asynchronous when it is). Usually caused by arterial compression of the facial nerve, which results in focal demyelination followed by ephaptic coupling of parallel axons. It can also result from Bell's palsy. Medcial treatments include Carbemazepine, baclofen, gabapentin and botulinum toxin. Surgical decompression of the nerve is a highly successful procedure, with some risks, including monaural deafness.  (See References)

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B) Riley-Day Syndrome

This answer is incorrect.


Riley-Day Syndrome is a congenital, autosomal recessive disease which predominately affects Jewish children. Failure to thrive and fever are early signs. Hyporeflexia and decreased pain & temperature sensation are noted on exam. There is also poor function of the autonomic nervous system. The standard test is for dopamine B-hydroxylase, which is diminished.  (See References)

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C) Asperger Syndrome

This answer is incorrect.


Asperger Syndrome is a disorder thought to typify a high-functioning variant of Autism. These patients may be adept at various cognitive skills, but have difficulty relating socially or emotionally with others.  (See References)

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D) Wernicke's Encephalopathy

This answer is incorrect.


Wernicke's Encephalopathy is a syndrome of ophthalmoparesis, nystagmus, ataxia, and confusion. Other findings often include postural hypotension and hypothermia. It is associated with thiamine deficiency, often secondary to malnutrition or alcoholism.   (See References)

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E) Alexander Disease

This answer is incorrect.


Alexander Disease is a rare, congenital disease which does not appear to be inherited. No metabolic cause has been found. Clinical features include seizures, psychomotor retardation, and failure to thrive, followed by progressive macrocephaly. The frontal lobes show white matter degeneration, and pathology shows Rosenthal fibers found near the pia and blood vessels, these are thought to be detritus from glial destruction.  (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.
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behavior
Guess the disease!
Question ID: 02210701
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/21/2007
Modified: 02/21/2007
Estimated Permutations: 0

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