RESUMO
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagnosed to have ataxia telangiectasia at the age of four years, now presented with fever and neck swelling of one month duration. Family history suggestive of ataxia telangiectasia in maternal uncle and younger sibling was present. History of premature coronary artery disease and death in paternal grandfather was present. On evaluation, child was diagnosed to have Alk negative anaplastic large T cell lymphoma. Management included genetic counseling, examination of all the family members, identification of A-T homozygote and providing appropriate care, regular surveillance of the heterozygote for malignancy.
Assuntos
Ataxia Telangiectasia/diagnóstico , Ataxia Telangiectasia/genética , Ataxia Telangiectasia/terapia , Cuidadores , Criança , Consanguinidade , Feminino , Aconselhamento Genético/métodos , Humanos , Linfoma Anaplásico de Células Grandes/diagnóstico , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/terapiaRESUMO
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