FrontalCortex, Inc. is a non-profit corporation dedicated to neurology education.

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 male presents with a history of grimacing, dysarthric speech, awkward gait, 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) Premature greying of the hair

B) Increased sensitivity to X-rays

C) Cerebellar hemangiomas

D) Hypertrichosis

E) Cerebellar degeneration

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

ANSWERS AND EXPLANATIONS

A) 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)


Please log in if you want to rate questions.

B) increased sensitivity to X-rays

This answer is incorrect.

This patient's history and eye findings are diagnostic for ataxia-telangiectasia. This is associated with increased cellular sensitivity to ionizing radiation. (See References)


Please log in if you want to rate questions.

C) 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)


Please log in if you want to rate questions.

D) 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)


Please log in if you want to rate questions.

E) 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)


Please log in if you want to rate questions.

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.


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
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