8-year experience with ataxia telangiectasia: A series of 7 cases

Abstract

Introduction. Ataxia telangiectasia (AT) is an autosomal recessive multisystemic neurodegenerative disease, con-sidered a rare and orphan disease. Methods. A cohort of case series from 2012 to 2020. We included patients younger than 18 years, admitted with diagnosis of ataxia telangiectasia from a tertiary care hospital and national referral center in Peru. Year of diagnos-tic, mortality, demographics, genetic test, and other main clinical outcomes were described. Results. A series of seven cases are presented (4 are women, between 6 and 15 years old) from different provinc-es of Peru. Five cases had a diagnostic delay. Two cases died at 9 and 12 years. Three cases have a brother with AT. The most frequent reason for consultation (6/7) was recurrent lung infection, followed by postural instability. All had delayed psychomotor development, recurrent respiratory, and digestive infections. The main laboratory results were lymphopenia (5 cases), neutropenia (6 cases), IgA deficiency (5 cases), and elevated alpha-fetoprotein (4 cases). Conclusion. AT considerably deteriorates the quality and prognosis of life of patients.