Neurocutaneous Syndromes 04

Topic: Pediatric

Created on Tuesday, September 18 2007 by jdmiles

Last modified on Tuesday, September 18 2007.

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

 

	= Go back to the top of the page.
	= Reload a different version of this question ().
	= Load a random question from the database.
	= Use this question as a template to create a totally NEW question.
	= Enter detailed rating for this question!
	= How users like you have rated this question.

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

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

---

A) Tuberous sclerosis

This answer is incorrect.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) Neurofibromatosis type II

This answer is incorrect.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

C) 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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

D) Neurofibromatosis type I

This answer is incorrect.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

E) 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)

Please log in if you want to rate questions.

 

 

 

 

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.

Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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