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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) Devic's Syndrome
 
        B) Alexander Disease
 
        C) Williams Syndrome
 
        D) Brown-Sequard Syndrome
 
        E) Causalgia
 

 


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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) Devic's Syndrome

This answer is incorrect.


Devic's Syndrome is a variant of multiple sclerosis (MS), in which optic neuritis and transverse myelitis occur together, or at least within weeks of each other. The transverse myelitis frequently leads to necrosis, and is thus more permanent than the usual transverse myelitis associated with MS. It also differs from MS in that the lesions are often limited to those described above, and the rest of the CNS is spared. Serologic finidngs are also frequently different from those of MS, e.g., no oligoclonal bands.  (See References)

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B) 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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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) 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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E) Causalgia

This answer is incorrect.


Causalgia is a type of peripheral neuralgia in which there is persistent burning pain in an extremity, along with abnormal sympathetic innervation in the affected nerve. It is most often seen after trauma.  (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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