1. Unusual and severe disease course in a child with ataxia-telangiectasia.
- Author
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Meyts, Isabelle, Weemaes, Corry, De Wolf-Peeters, Chris, Proesmans, Marijke, Renard, Marleen, Uyttebroeck, An, and De Boeck, Kris
- Subjects
IMMUNODEFICIENCY ,CEREBELLAR ataxia ,TELANGIECTASIA ,NEUTROPENIA ,STEROIDS ,THERAPEUTICS - Abstract
Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy. [ABSTRACT FROM AUTHOR]
- Published
- 2003
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