Lung disease in ataxia-telangiectasia.

  title={Lung disease in ataxia-telangiectasia.},
  author={Lucile Bott and Jp Lebreton and Caroline Thumerelle and J C Cuvellier and Antoine Deschildre and Anne Sardet},
  journal={Acta paediatrica},
  volume={96 7},
UNLABELLED Ataxia-telangiectasia (AT) is a multi-systemic disease caused by mutational inactivation of the ATM gene. We report a retrospective study of lung disease in 15 patients. PATIENTS AND METHODS A diagnosis of AT was made if the patient met the following criteria: neurological features and at least one the following: oculo-cutaneous telangiectasia, elevated serum alpha-feto-protein level. RESULTS Recurrent sino-pulmonary infections were usually present in 11 of the cases and occurred… CONTINUE READING