Abstract
Introduction. Ataxia telangiectasia (AT) is an autosomal recessive multisystemic neurodegenerative disease, considered 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 diagnostic, 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 provinces 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.
Highlights
Ataxia telangiectasia (AT) is an autosomal recessive multisystemic neurodegenerative disease, considered a rare and orphan disease
Ataxia telangiectasia (AT) or Louis-Bar syndrome is a multisystemic autosomal recessive genetic disease; due to mutations in the ATM gene located on the long arm of chromosome 11 [1,2]
AT is characterized by progressive cerebellar neurodegeneration, ocular-cutaneous telangiectasias, inmunodeficiencies, recurrent infections, lymphopenia, neutropenia, elevated alphafetoprotein, and insulin resistance
Summary
Ataxia telangiectasia (AT) is an autosomal recessive multisystemic neurodegenerative disease, considered a rare and orphan disease. We included patients younger than 18 years, admitted with diagnosis of ataxia telangiectasia from a tertiary care hospital and national referral center in Peru. AT is characterized by progressive cerebellar neurodegeneration, ocular-cutaneous telangiectasias, inmunodeficiencies, recurrent infections, lymphopenia, neutropenia, elevated alphafetoprotein, and insulin resistance. They present radiosensitivity and susceptibility to develop neoplasms, in particular leukemia and lymphoma [1,2,3,4].
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