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Neurocutaneous Syndromes 04

Topic: Pediatric

Created on Tuesday, September 18 2007 by jdmiles

Last modified on Tuesday, September 18 2007.

The parents of the Infant Marguerite Therese (shown in the image above) are concerned because she has recently developed seizures. Of the following options, which is the most likely diagnosis?


 
        A) Sturge-Weber syndrome
 
        B) Klippel-Trenaunay-Weber syndrome
 
        C) Tuberous sclerosis
 
        D) Klippel-Fiel syndrome
 
        E) Neurofibromatosis type II
 

 


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This question was created on September 18, 2007 by jdmiles.
This question was last modified on September 18, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Sturge-Weber syndrome

This answer is correct.


Sturge-Weber syndrome (SWS) is a sporadic neurocutaneous disorder which consists of a port-wine stain in the V1 region of the face, and a venous angioma in the pia mater. The anioma is usually ipsilateral to the port-wine nevus, but may be bilateral. Only 10%-20% of children with a port-wine nevus have a venous angioma.

80% of children with SWS have seizures. 80% of children who have SWS and develop seizures in the first year of life will have developmental delay.

  (See References)

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B) Klippel-Trenaunay-Weber syndrome

This answer is incorrect.


Klippel-Trenaunay-Weber syndrome is defined as the presence of one or more large cutaneous hemangiomata, with hypertrophy of the nearby bones and soft tissues. Marguerite does have a large cutaneous hemangioma (the port-wine stain shown), but does not have any noticable hypertrophy. The presence of seizures strongly suggests Sturge-Weber syndrome.

  (See References)

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C) Tuberous sclerosis

This answer is incorrect.


The port-wine nevus shown in this image is not characteristic of tuberous sclerosis.  (See References)

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D) Klippel-Fiel syndrome

This answer is incorrect.


The port-wine nevus shown in this image is not characteristic of Klippel-Fiel syndrome. The defining feature of Klippel-Fiel syndrome is congenital fusion of the cervical vertebrae. It is associated with a short neck, low hairline, and limited cervical motion.  (See References)

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E) Neurofibromatosis type II

This answer is incorrect.


The port-wine nevus shown in this image is not characteristic of neurofibromatosis.  (See References)

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References:

1. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York.
2. Santos, C.C., Miller, V.S., and Roach, E.S. (2004). Neurocutaneous syndromes. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1867-1900.
3. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia.
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pediatric
Neurocutaneous Syndromes 04
Question ID: 091807033
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 09/18/2007
Modified: 09/18/2007
Estimated Permutations: 600

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