There are 486 questions on various topics in Neurology in the FrontalCortex neurology question bank.

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 11 year-old female presents with a history of grimacing, choreoathetosis, dysarthric speech, and ataxia of the limbs, 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) Hypertrichosis

B) Cerebellar hemangiomas

C) Death before age 20

D) Cerebellar degeneration

E) Immunodeficiency

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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) hypertrichosis

This answer is incorrect.

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


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B) 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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C) death before age 20

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. Many patients with this disorder die in the second decade of life due to infection or malignancy. (See References)


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D) 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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E) 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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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