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) Tropical Spastic Paraparesis B) Rett Syndrome C) Alpers-Hutttenlocher syndrome D) Sydenham Chorea E) Williams Syndrome
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) 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. (
See References)
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C) 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. (
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D) Sydenham Chorea
This answer is incorrect.
Sydenham Chorea is a choreiform disorder associated with streptococcal infection. (
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E) 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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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