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Case Report
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| Ataxia telangiectasia with abnormal cellular immunity |
| Omar M Alakloby1, Saeed A Al-Ghamdi1, Abdullah M Al-Adnan1, Mohammad H Al-Qahtani1, Raidah S Al-Baradie1, Obied E Obeid1 |
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1University of Dammam, College of Medicine; King Fahd Hospital of the University, Department of Dermatology, Al-Khobar, Saudi Arabia.
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doi:10.5348/ijcri-2012-04-110-CR-7
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Address correspondence to: Prof. Omar M Alakloby Professor & Consultant Dermatologist/ Dermatopathologist, University Of Dammam, College Of Medicine King Fahd Hospital of the University P.O. Box 40130, Al-Khobar 31952 Kingdom of Saudi Arabia Phone: 00966-3-8580793, Mob: +966504814962 Fax: 00966-3-8595658 Email: oakloby1@yahoo.com |
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| How to cite this article: |
| Alakloby OM, Al-Ghamdi SA, Al-Adnan AM, Al-Qahtani MH, Al-Baradie RS, Obeid OE. Ataxia telangiectasia with abnormal cellular immunity. International Journal of Case Reports and Images 2012;3(4):26–29. |
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Abstract
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Introduction:
Ataxia telangiectasia (AT) is an autosomal recessive syndrome characterized by progressive cerebellar ataxia, immunodeficiency, which usually takes the form of sinopulmonary infections, oculocutaneous telangiectasia, X-ray hypersensitivity, and predisposition to lymphoid malignancies.
Case Report: A case of ataxia telangiectasia in a Yemeni boy with cerebellar atrophy, mottled pigmentations, scarring, recurrent sinopulmonary infections, and elevated alfa-fetoprotein. Conclusion: Ataxia telangiectasia should be suspected in the presence of progressive gait deterioration, recurrent sinupulmonary infections, inverted T4/T8 ratio, reduced B-cell count and ocular/oculo-cutaneous telangiectasia and abnormal cellular immunity. Elevated alpha-feto protein is a confirmatory test and should be done in all patients with AT. | |
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Key Words:
Ataxia Telangiectasia, Immunodeficiency, Alpha-feto protein, Cellular immunity
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Author Contributions:
Omar M Alakloby - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Saeed A Al-Ghamdi - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Abdullah M Al-Adnan - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Mohammad H Al-Qahtani - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Raidah S Al-Baradie - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Obied E Obeid - Substantial contributions to conception and design, Acquisition of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission:
The corresponding author is the guarantor of submission. |
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Source of support:
None |
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Conflict of interest:
Authors declare no conflict of interest. |
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Copyright:
© Omar M Alakloby et. al. 2012; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
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