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Malformations 07

Topic: Pathology

Created on Sunday, February 15 2009 by gliageek

Last modified on Sunday, February 15 2009.


Courtesy of Dr. Mark Cohen
The usual presentation of this malformation syndrome is?

 
        A) Occipital encephalocele, polydactyly, polycystic kidneys, hepatic fibrosis
 
        B) Severe psychomotor retardation, feeding difficulty, choreiform movements, myoclonic jerks
 
        C) Episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation
 
        D) Hydrocephalus, prominent occiput, poor head control
 
        E) Truncal ataxia, mental retardation
 

 


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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) Occipital encephalocele, polydactyly, polycystic kidneys, hepatic fibrosis

This answer is incorrect.


Meckel-Gruber syndrome  (See References)

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B) Severe psychomotor retardation, feeding difficulty, choreiform movements, myoclonic jerks

This answer is incorrect.


Ponto(neo)cerebellar hypoplasia  (See References)

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C) Episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation

This answer is incorrect.


Joubert syndrome, which shows much less dilatation of IVth ventricle, and many more abnormalities in roof nuclei  (See References)

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D) Hydrocephalus, prominent occiput, poor head control

This answer is correct.


Typical early life presentation of Dandy-Walker syndrome  (See References)

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E) Truncal ataxia, mental retardation

This answer is incorrect.


Rhombencephalosynapsis is characterised by dorsal fusion of the cerebellar hemispheres, hypoplasia of the vermis, fusion of dentate nuclei and superior cerebellar peduncles  (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:
2. Pasquier, L., Marcorelles, P., Loget, P., Pelluard, F., Carles, D., Perez, M., Bendavid, C., de La Rochebrochard, C., Ferry, M., David, V., Odent, S., and Laquerrière, A. (2009). "Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases." Acta Neuropathol, 117(2) 185-200. (PMID:19057916)
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pathology
Malformations 07
Question ID: 021509132
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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