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Malformations 03

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.


Courtesy of Dr. Mark Cohen
This boy suffered from infantile spasms and mental retardation. In addition to the defect pictured here, the brain showed cerebral heterotopias. The best diagnosis is?

 
        A) Acrocallosal syndrome
 
        B) Septo-optic dysplasia
 
        C) Aicardi syndrome
 
        D) X-linked hydrocephalus
 
        E) Neu-Laxova syndrome
 

 


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This question was created on February 15, 2009 by gliageek.
This question was last modified on February 15, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Acrocallosal syndrome

This answer is incorrect.


ACC with macrocephaly due to mutation in sonic hedgehog pathway  (See References)

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B) Septo-optic dysplasia

This answer is incorrect.


ACC with hypoplastic optic nerves and hypothalamus  (See References)

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C) Aicardi syndrome

This answer is correct.


This x-linked dominant disorder comprises infantile spasms, mental reatrdation, neuronal migration abnormalities, chorioretinopathy, and agenesis of the corpus callosum, pictured here  (See References)

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D) X-linked hydrocephalus

This answer is incorrect.


ACC with aqueductal stenosis, agenesis of septum pellucidum, thalamic fusion, and corticospinal hypoplasia (CRASH syndrome)  (See References)

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E) Neu-Laxova syndrome

This answer is incorrect.


ACC with microcephaly, lissencephaly, olfactory agenesis  (See References)

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References:

1. Love, S., Louis, D.N., and Ellison, D.W. (2008). Greenfield's Neuropathology, 8th Edition. Oxford University Press, USA (ISBN:0340906820)Advertising:
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pathology
Malformations 03
Question ID: 021509121
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/15/2009
Modified: 02/15/2009
Estimated Permutations: 120

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