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Case Report

Ann Med Res. 2014; 21(2): 135-138


Ataxia-Telangiectasia: Case Report of Two Siblings

Ferhat Çatal1, Mahmut Aslan2, Erdem Topal1, Halime Ermiştekin2, M. Selçuk Sinanoğlu2,

Neslihan Aslan2, Nurdan Yıldırım2

.

Abstract

Characterized by progressive cerebellar ataxia, cutaneous and conjuctival telangiectasia, ocular apraxy, immunodeficiency, and increased risk of malignancy, ataxia-telangiectasia is a rare neurodegenerative disorder that shows signs of autosomal recessive transmission. The ataxia-telangiectasia gene is located in chromosome 11q22-23. Various degrees of abnormalities in T and B cell immunities have also been described. It is known that the incidence of both T cell and B cell leukemia and lymphoma increased compared with the general growth of the population in Turkey. T cell malignancy can be seen at any age though B cell malignancy is more common at older ages. This report presents the case of two siblings who were diagnosed with ataxia-telangiectasia. The two siblings formerly had another sibling who was diagnosed with ataxia-telangiectasia and died from leukemia. Taking these two cases as the staring point, this study focuses on the clinical manifestations, affected systems and treatment of ataxia-telangiectasia.

Key Words: Ataxia-Telangiectasia; Immunodeficiency; Cerebellar Atrophy.






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The articles in Bibliomed are open access articles licensed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License (https://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.