Ataxia-telangiectasia: case series review from Centro Hospitalar Universitário do Santo António

Abstract

Abstract Purpose: Characterize epidemiologically and clinically the individuals diagnosed with ataxia-telangiectasia (A-T), know the therapies performed and evaluate factors of worse prognosis. Methods: Retrospective study, from clinical records of patients diagnosed with A-T in CHUdSA from 1992 to 2022, inclusive. Results: The sample consists of 7 patients, 85.7% male. The mean age at diagnosis was 4.01 ± 1.76 years. The consanguinity rate was 42.9% and the mean BMI at diagnosis was 15.74kg/m2. At diagnosis, cerebellar ataxia was present in 100% of patients, dysarthria in 57.1%, oculomotor apraxia in 42.9%, dystonia in 28.6%, and dysphagia in 14.3%. Telangiectasias were seen in 57.1% of cases and skin changes in 28.6%. Recurrent respiratory infections covered 57.1% of patients. The mean AFP at diagnosis was 95.28 ± 23.48 ng/ml, lymphopenia was observed in 57.1%, IgA absence in 100%, IgG deficit in 42.9%, and CD4+ T lymphocyte deficit in 100% of patients. At the time of the last evaluation, 100% had dysarthria, 85.7% had oculomotor apraxia and/or dysphagia, and 57.1% had dystonia. Also, 85.7% had telangiectasias and 71.4% had skin changes. Diabetes mellitus developed in 14.2% of patients. The mean age of gait loss was 15.75 ± 3.30 years and 57.1% of the cases were wheelchair dependent at the time of the last evaluation. Conclusions: The results observed are mostly according to those described in the literature. In A-T, the prognosis varies according to the severity and presence of secondary complications, and it is crucial to act early to prevent them.