ATAXIA-TELANGIECTASIA - A CLINICAL AND BI OLOGICAL STUDY OF 17 CASES

Seventeen cases of ataxia telangiectasia (AT) were diagnosed over a pe riod of 10 years. The children affected by AT were aged about 7 years and they were preferentially males (67%). The principal clinical aspec ts were: cerebellous ataxia (98%), recurrent ENT infections (86%) and ocular telangiectasia (96%). We also showed an immune function defect mainly concerning IgA, which was associated with cellular immunity abn ormalities (lymphopenia, negative hypersensitivity reactions). The alp ha-fetoprotein (AFP) values were high and increased in proportion to t he severity of the neurologic manifestations. Thus, this parameter cou ld be used as a diagnostic index of the illness and could be a preciou s indicator for the management and the evolution of these patients.