Vol 43, No 3 (2012)
Case Report
Published online: 2012-01-01

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Hematological malignancies in children with ataxia–telangiectasia – a difficult clinical problem

Aneta Szudy, Jakub Litak12, Joanna Zawitkowska12, Jerzy Kowalczyk12
DOI: 10.1016/S0001-5814(12)34007-3
Acta Haematol Pol 2012;43(3):291-295.

Abstract

Ataxia–telangiectasia (Louis-Bar syndrome) is a rare, genetically determined immunodeficiency syndrome inherited in an autosomal recessive trait. Gene defect concerns the long arm of chromosome 11q22-23. Characteristic symptoms include ataxia, telangiectasiae localized on the skin and eyeballs, immunodeficiency, and increased susceptibility to malignancies.

Report presents a case of siblings: 6-year-old girl and 8-year-old boy diagnosed with ataxia–telangiectasia syndrome. Both of them developed proliferative disease of the hematopoetic system. The girl was diagnosed with Hodgkin's lymphoma and died after a three months as a result of progression. The boy developed T-cell acute lymphoblastic leukemia. Disease remission was obtained, but severe life-threatening complications occurred.

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