Methods: A descriptive study using chart review of patients diagnosed with AT.
Results: Retrospective data were analyzed in the medical records of 24 patients, 19 males and 5 females. Three of these patients were not included in the sample, for presenting insufficient data for analysis. Of the 21 patients, there were five families with five pairs of siblings. Three families had a positive family history. Consanguinity was observed in 5 (26%) of 19 couples in the sample. Seventeen (81%) patients had ataxia as the first symptom, beginning between 6 months and 7 years of age (median 18 months). Three patients with symptoms started with a telangiectasia and recurrent infections. The onset of symptoms ranged from 15 days old to 7 years of age (median 17 months). Age at diagnosis ranged from 1.5 year to 17 years old (median 5 years). Intravenous immunoglobulin was given for 16 of 23 patients (69.5%), prophylactic antibiotics were given for 15 (65.2%) and vitamin supplement for 12 patients (52.2%). Comorbidities: asthma was present in 6 patients (26%), allergic rhinitis in 3, and bronchiectasis in 3. Other less frequent comorbidities were diabetes (1), atopic dermatitis (1), sarcoidosis (1) and idiopathic thrombocytopenia (1). In evolution, 11 patients (52%) had dysphagia started between 3 and 18 years (median: 12.5 years). The most common infections were upper respiratory tract (83%), pneumonia (79%), sinusitis (66%), diarrhea (54%), tonsillitis (45%) and otitis (25%). Four patients lost follow-up, of the 20 remaining cases there were 8 deaths occurring between 13 and 18 years old. Causes of death were respiratory failure (3 cases), pneumonia (3), leukemia (1) and lymphoma (1).
Conclusions: Recurrent infections, dysphagia, and ataxia were the most frequent symptoms in our sample, and respiratory problems were the main cause of death among these series.