Ataxia telangietasia [about 11 cases]

ABSTRACT

Ataxia telangiectasia [AT] is an autosomal recessive disorder, caracterized by progressive cerebellar ataxia, oculocutaneos telangiectasia, immunological abnormalities and increased susceptibility of malignancies. Our study objectives are to provide the last data in genetic, clinical and therapeutic fields concerning AT in order to help our doctors to establish the diagnosis in the first stages and so participite to the diagnosis of the primary immunodeficiency diseases. Our 11 patients are from 7 families and the consanguinity was found in 8 cases. The median age of diagnosis is about 7 years and 7 months. The clinical study had found out eight cases of manifest ataxia, nine times bulbar telangiectasias and eight cases of bronchectasias. On the immunological side, the serum IgA deficiency was found 5 times and one case had showed lymphopenia. The taking in charge consisted in infectious episodes treatement and continuous antibiotic prophylaxis, IGIV infusion was used only four times. The course of our patients was characterized by regression of infectious signs in five cases and the death of five others. One patient had never been seen again. Our set was charactezed by the heterogenecity of the features. In one hand we had severe form with a very soon start and in the other hand we had a mild clinical form with a late start