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

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.