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Imaging in Congenital Neurologic Syndromes 01

Topic: Imaging

Created on Tuesday, April 24 2007 by jdmiles

Last modified on Tuesday, April 24 2007.

This image shows a T1 MRI of the brain of a newborn. What is the most likely diagnosis?

 
        A) Septo-optic dysplasia
 
        B) Multiple sclerosis
 
        C) Hydrocephalus
 
        D) Lissencephaly
 
        E) Metachromatic leukodystrophy
 

 


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This question was created on April 24, 2007 by jdmiles.
This question was last modified on April 24, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Septo-optic dysplasia

This answer is correct.


This image shows absence of the septum pellucidum, which is one of the common findings in septo-optic dysplasia (also called de Morsier syndrome). Other cardinal features include hypoplasia of the optic nerve and other midline structures, such as the pituitary and corpus callosum. This patient had optic nerve dysgenesis, but a functional pituitary and intact corpus callosum.  (See References)

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B) Multiple sclerosis

This answer is incorrect.


There is no evidence for multiple sclerosis in this image.  (See References)

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C) Hydrocephalus

This answer is incorrect.


There is no evidence for hydrocephalus in this image.  (See References)

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D) Lissencephaly

This answer is incorrect.


There is no evidence for lissencephaly in this image.  (See References)

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E) Metachromatic leukodystrophy

This answer is incorrect.


There is no evidence for metachromatic leukodystrophy in this image.  (See References)

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References:

1. Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J.(Eds.) (2004). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia.
2. OMIM Database: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182230
3. Fenichel, G.M. (2005). Clinical Pediatric Neurology, 5th ed. Elsevier, Philadelphia.
4. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York.
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imaging
Imaging in Congenital Neurologic Syndromes 01
Question ID: 042407157
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 04/24/2007
Modified: 04/24/2007
Estimated Permutations: 50400

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