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) Williams Syndrome B) Alexander Disease C) Asperger Syndrome D) Zellweger Syndrome E) Brown-Sequard Syndrome
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 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)
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
B) Alexander Disease
This answer is incorrect.
Alexander Disease is a rare, congenital disease which does not appear to be inherited. No metabolic cause has been found. Clinical features include seizures, psychomotor retardation, and failure to thrive, followed by progressive macrocephaly. The frontal lobes show white matter degeneration, and pathology shows Rosenthal fibers found near the pia and blood vessels, these are thought to be detritus from glial destruction. (
See References)
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
C) 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)
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
D) 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)
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
E) Brown-Sequard Syndrome
This answer is incorrect.
Brown-Sequard Syndrome is a homolateral paralysis which spares the face, with ipsilateral loss of position and vibratory sense, and contralateral loss of temperature and pain. Results from a unilateral spinal cord lesion. (
See References)
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
References:
| 1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. | |
|
 |  |  |
|  |  |
| Please log in if you want to rate questions. |
FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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