USMLE Forum Archives - USMLE Step 1 - Pathology 12
Pathology 12
TheOne - 10-06-06 12:13
A retarded 45-year-old man living in Mexico becomes ill with pneumonia and his family brings him across the border to the United States. He succumbs to his illness and an autopsy is performed. Neuropathological examination of his brain reveals neuritic plaques and neurofibrillary tangles. Which of the following was the most likely cause of this man's retardation?
A. Down's syndrome
B. Edwards' syndrome
C. Fragile X syndrome
D. Patau syndrome
E. Supernumerary Y syndrome
TheOne - 10-06-06 12:13
A retarded 45-year-old man living in Mexico becomes ill with pneumonia and his family brings him across the border to the United States. He succumbs to his illness and an autopsy is performed. Neuropathological examination of his brain reveals neuritic plaques and neurofibrillary tangles. Which of the following was the most likely cause of this man's retardation?
A. Down's syndrome
B. Edwards' syndrome
C. Fragile X syndrome
D. Patau syndrome
E. Supernumerary Y syndrome
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#1
Re: Pathology 12
TheOne - 10-08-06 13:34 Explanation: The correct answer is A. Features of Down's syndrome (trisomy 21) in children include mental retardation, epicanthal folds, dysplastic ears, hypotonia, a horizontal palmar crease (simian crease), redundant neck skin, and a short trunk. However, most of these children eventually grow to adulthood. At that point, the aging parents may have to deal with a physically strong and healthy mentally retarded individual who is experiencing a deterioration in mental function. This deterioration may be accompanied by aggressive behavior (as in the elderly with Alzheimer's disease) arising out of the patient's diminishing ability to reason or understand his environment. Edwards' syndrome (choice B), or trisomy 18, causes death in infancy. Characteristics include rocker-bottom feet, low-set ears, micrognathia, congenital heart disease, and mental retardation. Fragile X syndrome (choice C) is associated with enlarged testes as well as mental retardation. The condition is unusual in that it is related to expansion of a CGG repeat sequence located on the X chromosome. Patau syndrome (choice D), or trisomy 13, is characterized by severe mental retardation, microcephaly, microphthalmia, polydactyly, cleft lip and palate, renal defects, and cardiac abnormalities. Affected infants typically die before the age of 1. The effects of supernumerary Y chromosomes (choice E; most commonly XYY) include increased stature, aggressive behavior, and infertility, but a supernumerary Y chromosome is sometimes found in otherwise normal individuals.
#2
Re: Pathology 12 galaxy - 05-27-10 19:03 i couldnt decide the answer...it looks more of an alzeimer's disease of earlieronset with senile plaques and neurofibrillatory tangles...
#3
Re: Pathology 12 babbu5508 - 06-21-10 14:51 couldnt decide with the answer but most likely to be downs syndrome..the autopsy findings are more of alzheimers disease...
#4
Re: Pathology 12 bingousmle - 06-30-10 22:32 Down's syndrome affected individuals are more prone to develop alzheimers disease as compared to general population......
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