ABSTRACT
Background: Ataxia-telangiectasia [A-T] is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy
Aim: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia
Methods:we performed a retrospective study [1996-2012] in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features
Results:11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years [range: 0-12 years].The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years [extremes: 3 months and 7 years]. Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation [7-14] in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated
Conclusion: Morbidity and mortality among patients with A- T are associated with ATM genotype