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) Causalgia B) Williams Syndrome C) Riley-Day Syndrome D) Dancing Eyes-Dancing Feet Syndrome E) Alpers' Disease
This question was created on February 21, 2007 by jdmiles.
This question was last modified on February 21, 2007.
ANSWERS AND EXPLANATIONS
A) 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. (
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B) 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. (
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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) Dancing Eyes-Dancing Feet Syndrome
This answer is incorrect.
Dancing Eyes-Dancing Feet Syndrome is a cerebellar ataxia with polymyoclonus which may be postinfectious. (
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E) Alpers' Disease
This answer is incorrect.
Alpers' Disease is a disorder which may be inherited or sporadic. It begins in early infancy with loss of smile, loss of interest in surroundings, episodes of sweating, seizures, and diffuse myoclonic jerks. As it progresses, there follows diffuse spasticity, blindness, delayed growth, and progressive microcephaly. In late stages, the patient is essentially decorticate. The etiology is not yet understood. (
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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