Pinar Yavuz, İbrahim Oncel, Aysegül Akarsu, Deniz Ayvaz, Ilhan Tezcan, Banu ANLAR

Objective: Clinical and laboratory findings in Ataxia Telangiectasia (AT) are variable. The preliminary findings of a standardized multidisciplinary evaluation of AT are presented. Methods: Patients under the age of 18 years who were diagnosed with A-T between 2005-2021 were included in the study. For neurological evaluation, AT-NEST, SARA, ICARS, and structured clinical evaluation were used. Results: The median age of patients evaluated to date (n=15, F/M=8/7) was 108(16-204) months, and median age at diagnosis was 36(6-108) months. The symptoms first appeared at median 13(3-72) months. Unsteady gait was the most common symptom when babies first started walking(n=8, 53%), as was"trunk swaying"(20%) during periods of sitting without support. Cerebellar findings such as ataxia and dysarthria were seen in 14 patients, and one patient had isolated extrapyramidal system(EPS) findings. Other findings included ocular(n=13), EPS(n=12)(chorea-tic; n=8, bradykinesia;n=12, dystonia;n=2), peripheral neuropathy(n=2), conjunctival telangiectasia(n=13), and sialorrhea(n=12). Five patients had comorbid disease (leukemia, Hodgkin lymphoma, autoimmune hemolytic anemia, precocious puberty, and asthma;n=1each). The cognitive assessment was normal in 13/15 patients. Cerebellar atrophy(diffuse;n=3, folial;n=1, vermian;n=1) was found in 5/9 patients who had a brain MRI. In 11/12 patients who had immunological tests, various abnormalities in IgG, A, M levels and lymphocyte subtypes were found. Conclusion: Although AT is typically diagnosed in patients with ataxia and immunodeficiency, it should also be considered in patients with certain neurological findings only. Longitudinal studies inform about phenotypic diversity and natural history; they also constitute a good model of interdisciplinary collaboration.

Keywords: Ataxia Telangiectasia, phenotypes, neurodegeneration, immune deficiency

Pinar Yavuz
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey

İbrahim Oncel
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey

Aysegül Akarsu
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey

Deniz Ayvaz
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey

Ilhan Tezcan
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey

Banu ANLAR
Hacettepe University İhsan Doğramacı Children's Hospital
Turkey