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Neurocutaneous Syndromes 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

Which of the following is characteristically associated with neurofibromatosis type 1?

 
        A) Bilateral acoustic Schwannoma
 
        B) Axillary freckling
 
        C) Shagreen patches
 
        D) Retinal astrocytoma
 
        E) Genetic abnormality on chromosome 22
 

 


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This question was created on February 17, 2007 by jdmiles.
This question was last modified on February 17, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) bilateral acoustic Schwannoma

This answer is incorrect.


Bilateral acoustic Schwannoma is associated with neurofibromatosis type 2 (NF2).   (See References)

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B) axillary freckling

This answer is correct.


Axillary and groin freckling is common in NF1. Freckles may be present at birth, and become more prominent during puberty.   (See References)

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C) shagreen patches

This answer is incorrect.


Shagreen patches are not characteristic of NF1. They are associated with tuberous sclerosis.   (See References)

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D) retinal astrocytoma

This answer is incorrect.


Retinal astrocytomas are not characteristic of NF1. They are associated with tuberous sclerosis.   (See References)

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E) genetic abnormality on chromosome 22

This answer is incorrect.


The genetic defect in NF1 is on chromosome 17. A defect on chromosome 22 is associated with neurofibromatosis type 2 (NF2).   (See References)

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References:

1. Neurofibromatosis Fact Sheet, NINDS. NIH Publication No. 06-2126
2. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1069-1076.
3. 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, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1867-1900.
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adult
Neurocutaneous Syndromes 01
Question ID: 021707087
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 84000

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