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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) Williams Syndrome
 
        B) Wernicke-Korsakoff Syndrome
 
        C) Devic's Syndrome
 
        D) Riley-Day Syndrome
 
        E) Hemifacial Spasm
 

 


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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) Williams Syndrome

This answer is incorrect.


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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B) 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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C) 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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D) 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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E) Hemifacial Spasm

This answer is incorrect.


Hemifacial Spasm is a disorder characterised by painless twitching of the muscles on one side of the face (in 5%, bilateral, but asynchronous when it is). Usually caused by arterial compression of the facial nerve, which results in focal demyelination followed by ephaptic coupling of parallel axons. It can also result from Bell's palsy. Medcial treatments include Carbemazepine, baclofen, gabapentin and botulinum toxin. Surgical decompression of the nerve is a highly successful procedure, with some risks, including monaural deafness.  (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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