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 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.
What disease am I thinking of?
A) Alpers' Disease B) Wilson's Disease C) Williams Syndrome D) Rett Syndrome E) Dancing Eyes-Dancing Feet Syndrome
This question was created on February 21, 2007 by jdmiles.
This question was last modified on February 21, 2007.
ANSWERS AND EXPLANATIONS
A) 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. (
See References)
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B) Wilson's Disease
This answer is incorrect.
Wilson's Disease is a disease wherein decreased cerluloplasmin leads to deposition of copper first in the liver and later in the brain (especially putamen and globus pallidus). Common symptoms include tremor and bradykinesia. Treatment is with d-penicillamine. (
See References)
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C) 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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D) Rett Syndrome
This answer is incorrect.
Rett Syndrome is an X-linked dominant form of mental retardation primarily affecting girls. These girls develop normally until 6 to 18 months of age, after which they lose mental abilities and motor skills. (
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E) 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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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