Ataxia-Telangiectasia: Case Report of Two Siblings
Ferhat Ãatal1, Mahmut Aslan2, Erdem Topal1, Halime Ermiştekin2, M. SelÃ§uk Sinanoğlu2,
Neslihan Aslan2, Nurdan Yıldırım2.
Abstract Similar Articles
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.