By: Ahmet Sert*, Dursun Odabas, Bahar Demir and Cengizhan Kılıcarslan
Abstract: Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, telangiectasies, immune defects, and a predisposition to malignancy. Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection and malignancies. Under-diagnosis or diagnostic delay of AT and its pulmonary complications contribute to morbidity and early mortality. We report…
Keywords: Adolescent; ataxia-telangiectasia; bronchiectasis.
IJPHE 2020, 9(1), 1-6;