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Malformations 05

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.


Courtesy of Dr. Mark Cohen
This female infant was born with hydrocephalus, encephalocele, and retinal dysplasia. The best diagnosis is?

 
        A) Tuberous sclerosis
 
        B) Norman-Roberts syndrome
 
        C) Zellweger syndrome
 
        D) Miller-Dieker syndrome
 
        E) Walker-Warburg 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) Tuberous sclerosis

This answer is incorrect.


CNS hamartomas (tubers)  (See References)

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B) Norman-Roberts syndrome

This answer is incorrect.


Lissencephaly with low sloping forehead and prominent nasal bridge, secondary to RLN mutation  (See References)

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C) Zellweger syndrome

This answer is incorrect.


Polymicrogyria, subependymal cysts, cerebellar heterotopia  (See References)

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D) Miller-Dieker syndrome

This answer is incorrect.


Lissencephaly, heterotopias, facial dysmorphism  (See References)

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E) Walker-Warburg syndrome

This answer is correct.


HARD+E syndrome: hydrocephalus, agyria, retinal dysplasia + encephalocele.  (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 05
Question ID: 021509123
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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