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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 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.
What disease am I thinking of?

 
        A) Dancing Eyes-Dancing Feet Syndrome
 
        B) Zellweger Syndrome
 
        C) Riley-Day Syndrome
 
        D) Alpers-Hutttenlocher syndrome
 
        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) 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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B) Zellweger Syndrome

This answer is incorrect.


Zellweger Syndrome is an autosomal recessive disorder that results in a lack of liver peroxisomes. It results in accumulation of very long chain fatty acids, and is terminal at a few months of age.  (See References)

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C) Riley-Day Syndrome

This answer is correct.


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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D) 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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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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