Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study

Ataxia-telangiectasia (AT) is a rare disorder leading to multisystem involvement due to impaired DNA repair. Recent advances in targeted therapies highlight the importance of early diagnosis. This study aimed to evaluate clinical, radiological, and genetic variability in patients with AT and examine genotype-phenotype associations and diagnostic timing.

A retrospective study was conducted on genetically confirmed AT patients followed in four pediatric neurology centers in Türkiye over a 12-year period.

A total of 21 patients with AT were included; the median age at symptom onset was 26 months, and the median age at diagnosis was 60 months, with a diagnostic delay of 21 months. Ocular telangiectasia was present in all patients. Ataxia, oculomotor apraxia, and dysarthria were other common features. Involuntary movements and strabismus were each observed in 52.4%. Cerebellar atrophy was noted in 57.1%, and decreased immunoglobulin levels in 95.2%. No significant differences in the frequency of clinical findings were observed between early and late diagnosis groups, except that recurrent respiratory tract infections were significantly more common in the early-diagnosis group (p = 0.035).

In this study, clinical variability and key clinical features of AT were identified. AT should be suspected and immunoglobulin levels assessed in patients with neurological symptoms and recurrent infections. Improving recognition of AT may contribute to earlier diagnosis and better outcomes.