Malformations 03

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.

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

 

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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

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A) 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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B) Acrocallosal syndrome

This answer is incorrect.

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

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C) Neu-Laxova syndrome

This answer is incorrect.

ACC with microcephaly, lissencephaly, olfactory agenesis  (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) Septo-optic dysplasia

This answer is incorrect.

ACC with hypoplastic optic nerves and hypothalamus  (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)

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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