International Journal of Public Health and Epidemiology

International Journal of Public Health and Epidemiology ISSN 2326-7291 Vol. 9 (7), pp. 001-003, July, 2020. © International Scholars Journals

Case Report

Delayed diagnosis of ataxia-telangiectasia in an adolescent patient

Ahmet Sert*, Dursun Odabas, Bahar Demir and Cengizhan Kılıcarslan

Department of Pediatrics, Konya Training and Research Hospital, Konya, Turkey.

Accepted 17 October, 2019

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 reported a patient who, due to a delay in diagnosis of AT, presented with bronchiectasis at the age of seventeen. To reduce the morbidity associated with AT, there needs to be greater awareness of the respiratory complications. Early management and monitoring lung function can minimize pulmonary damage.

Key words: Adolescent, ataxia-telangiectasia, bronchiectasis.