Guess the disease!

Topic: Behavior

Created on Wednesday, February 21 2007 by jdmiles

Last modified on Wednesday, February 21 2007.

 
        A) Riley-Day Syndrome
 
        B) Alexander Disease
 
        C) Dancing Eyes-Dancing Feet Syndrome
 
        D) Korsakoff's Amnesic Syndrome
 
        E) Williams 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

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A) 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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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) Dancing Eyes-Dancing Feet Syndrome

This answer is incorrect.

Dancing Eyes-Dancing Feet Syndrome is a cerebellar ataxia with polymyoclonus which may be postinfectious.  (See References)

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D) Korsakoff's Amnesic Syndrome

This answer is incorrect.

Korsakoff's Amnesic Syndrome is a syndrome of severe anterograde and retrograde amnesia. It is often associated with polyenuropathy. It is frequently associated with a thiamine deficiency secondary to alcoholism or malnutrition, with lesions of the mammillary bodies visible on pathology or MRI. It can have other etiologies, including ischemic lesions in various parts of the brain.   (See References)

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E) 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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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