Neurocutaneous Syndromes 07

Topic: Pediatric

Created on Wednesday, January 28 2009 by jdmiles

Last modified on Sunday, February 15 2009.

 
        A) Autosomal dominant
 
        B) Consistent with a trinucleotide repeat
 
        C) X-linked recessive
 
        D) X-linked dominant
 
        E) Sporadic
 

 

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This question was created on January 28, 2009 by jdmiles.
This question was last modified on February 15, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Autosomal dominant

This answer is incorrect.

Little Marguerite Therese has 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. 80% of children with SWS have seizures.  (See References)

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B) consistent with a trinucleotide repeat

This answer is incorrect.

Little Marguerite Therese has 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. 80% of children with SWS have seizures.  (See References)

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C) X-linked recessive

This answer is incorrect.

Little Marguerite Therese has 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. 80% of children with SWS have seizures.  (See References)

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D) X-linked dominant

This answer is incorrect.

Little Marguerite Therese has 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. 80% of children with SWS have seizures.  (See References)

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E) Sporadic

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 angioma 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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References:

1. Victor, M., and Ropper, A.H. (2005). Adams and Victor's Principles of Neurology, 8th Edition. McGraw-Hill, New York. (ISBN:007141620X)	Advertising:
2. Di Rocco, C., and Tamburrini, G. (2006). "Sturge-Weber syndrome." Childs Nerv Syst, 22(8) 909-21. (PMID:16823586)
3. Rowland, L.P. (Ed) (2000). Merritt's Neurology, 10th Edition. Lippincott Williams & Wilkins, Philadelphia. (ISBN:0683304747)	Advertising:
4. 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 (ISBN:0750674695).	Advertising:

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pediatric
Neurocutaneous Syndromes 07
Question ID: 012809037
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 01/28/2009
Modified: 02/15/2009
Estimated Permutations: 600