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 6 year-old female presents with a history of awkward gait, grimacing, choreoathetosis, and dysarthric speech, 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) Immunodeficiency

B) Pheochromocytoma

C) Hypertrichosis

D) Premature greying of the hair

E) Death before age 20

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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) 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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B) Pheochromocytoma

This answer is correct.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. Increased incidence of pheochromocytoma is not associated with ataxia-telangiectasia. (See References)


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C) 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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D) 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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E) 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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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