[Ataxia-telangiectasia syndrome. Clinical and diagnostic aspects]

Ataxia-telangiectasia (A-T) is a genetic disease, which mainly affects the skin and the central nervous system. Authors present 3 cases that presented for walking disorders starting at the age of 2 to 4 years old. All patients had a history of repeated broncho-pulmonary infections. In one case the syndrome was well defined, both clinically and immunologically, which made the diagnosis simple. In the other two cases, the initial diagnose was cerebral palsy the ataxic form and myasthenia. In all patients we observed low or no serum levels of IgA and IgE and high serum levels of a-fetoprotein. AT diagnose must be suspected in all children who exhibit the association of progressive cerebellar ataxia, which first appears in early childhood, with repeated bronchopulmonary infections and immune deficiencies, the later appearance of telangiectasia confirming the diagnosis.