Clinical, Immunological Findings, and Outcomes of Children with Ataxia-Telangiectasia: A Single Center Experience

Introduction: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, humoral and cellular immunodeficiency, sensitivity to ionizing radiation, and a tendency to malignancy. The aim of this study was to evaluate the demographic characteristics, immunodeficiency status, laboratory findings, and prognosis of children with AT based on a single-center experience. Patients and Methods: Nineteen pediatric patients diagnosed with AT between 2003 and 2024 were retrospectively analyzed at a single tertiary center. Results: The study included 11 male and 8 female patients, with a mean follow-up duration of 72.6 ± 41.3 months. The mean ages at symptom onset and diagnosis were 30.47 ± 23.7 months and 82.32 ± 26.5 months, respectively. The most common presenting symptoms were gait instability, ocular telangiectasia, and recurrent respiratory tract infections. Immunological evaluation revealed IgA deficiency in 57.9% of the patients and IgG deficiency in 15.8%. A hyper-IgM AT phenotype was identified in two patients (10.5%). During follow-up, bronchiectasis and hepatosteatosis developed in 26.3% of the patients. One patient (5.2%) developed type 2 diabetes mellitus, and malignancy occurred in three patients (15.7%). Overall, 6 patients (31.5%) died during the follow-up period. Conclusion: Ataxia-telangiectasia is a rare multisystem disorder associated with significant morbidity and mortality. Early diagnosis, comprehensive multidisciplinary follow-up, regular malignancy surveillance, and preventive strategies for recurrent sinopulmonary infections are essential for improving clinical outcomes and prognosis in affected patients.