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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) Tropical Spastic Paraparesis

B) Riley-Day Syndrome

C) Zellweger Syndrome

D) Asperger Syndrome

E) Alpers-Hutttenlocher 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) 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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B) 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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C) 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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D) 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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E) 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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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