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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 disease, also called elfin facies syndrome, which is a congenital form of mental retardation related to an abnormality on chromosome 7. Patients are mildly developmentally delayed, but retain musical ability and social skills. Motor skills are impaired. Patients tend also to have supravalvular aortic stenosis.
What disease am I thinking of?

 
        A) Rett Syndrome
 
        B) Asperger Syndrome
 
        C) Williams Syndrome
 
        D) Tropical Spastic Paraparesis
 
        E) Brown-Sequard 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) Rett Syndrome

This answer is incorrect.


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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B) 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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C) Williams Syndrome

This answer is correct.


Williams Syndrome is a disease, also called elfin facies syndrome, which is a congenital form of mental retardation related to an abnormality on chromosome 7. Patients are mildly developmentally delayed, but retain musical ability and social skills. Motor skills are impaired. Patients tend also to have supravalvular aortic stenosis.  (See References)

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D) Tropical Spastic Paraparesis

This answer is incorrect.


Tropical Spastic Paraparesis is a myelopathy related to infection with the HTLV-I virus. It is endemic to Martinique, Jamaica, Colombia and Japan. Key clinical signs include slowly progressing paraparesis with increased DTRs and positive Babinski.  (See References)

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E) Brown-Sequard Syndrome

This answer is incorrect.


Brown-Sequard Syndrome is a homolateral paralysis which spares the face, with ipsilateral loss of position and vibratory sense, and contralateral loss of temperature and pain. Results from a unilateral spinal cord lesion.  (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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