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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 an X-linked dominant form of mental retardation primarily affecting girls. These girls develop normally until 6 to 18 months of age, after which they lose mental abilities and motor skills.
What disease am I thinking of?

 
        A) Wernicke-Korsakoff Syndrome
 
        B) Alpers-Hutttenlocher syndrome
 
        C) Wilson's Disease
 
        D) Wernicke's Encephalopathy
 
        E) Rett Syndrome
 

 


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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) Wernicke-Korsakoff Syndrome

This answer is incorrect.


Wernicke-Korsakoff Syndrome is a syndrome of ophthalmoparesis, nystagmus, ataxia, confusion, and inability to learn or form new memories. Other findings often include peripheral neuropathy, postural hypotension, and hypothermia. It is associated with thiamine deficiency, often secondary to malnutrition or alcoholism.   (See References)

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B) Alpers-Hutttenlocher syndrome

This answer is incorrect.


Alpers-Hutttenlocher syndrome is a subtype of progressive cerebral poliodystrophy in which there are also hepatic symptoms: jaundice, fatty degeneration, and cirrhosis. Other symptoms include anemia, thrombocytopenia, and trichorrhexis.  (See References)

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C) Wilson's Disease

This answer is incorrect.


Wilson's Disease is a disease wherein decreased cerluloplasmin leads to deposition of copper first in the liver and later in the brain (especially putamen and globus pallidus). Common symptoms include tremor and bradykinesia. Treatment is with d-penicillamine.  (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) Rett Syndrome

This answer is correct.


Rett Syndrome is an X-linked dominant form of mental retardation primarily affecting girls. These girls develop normally until 6 to 18 months of age, after which they lose mental abilities and motor skills.  (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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