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Ataxia-Telangiectasia 01

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

Image courtesy of National Eye Institute, National Institutes of Health

A 10 year-old female presents with a history of dysarthric speech, choreoathetosis, ataxia of the limbs, and awkward gait, which have been slowly progressing since early childhood.
On exam, you notice the eye findings shown in the image above.
This child is at increased risk for all of the following complications, EXCEPT:

A) Cerebellar degeneration

B) Immunodeficiency

C) Premature greying of the hair

D) Nonlymphoid neoplasms

E) Cerebellar hemangiomas

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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) cerebellar degeneration

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. Cerebellar degeneration is a frequent finding in ataxia-telangiectasia. (See References)


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B) immunodeficiency

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with immunodeficiency. (See References)


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C) premature greying of the hair

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with an increased risk of early greying of the hair. (See References)


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D) nonlymphoid neoplasms

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with an increased risk of nonlymphoid neoplasms (See References)


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E) Cerebellar hemangiomas

This answer is correct.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. Cerebellar hemangiomas are associated with von Hippel-Lindau syndrome, not ataxia-telangiectasia. (See References)


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References:

1. 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.
2. NINDS Ataxia Telangiectasia Information Page, NINDS. http://www.ninds.nih.gov/disorders/a_t/a-t.htm
3. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1011-1012.


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adult
Ataxia-Telangiectasia 01
Question ID: 02170702
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 0