544 Clinical Features of Patients with Ataxia-Telangiectasia at Reference Center in Sao Paulo, Brazil

BACKGROUND: Clinical symptoms of patients with ataxia-telangiestasia (AT) followed in outpatient immunology. 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 5 families with 5 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.