Diagnostic considerations in ataxia-telangiectasia

SUMMARY 13 children with ataxia-telangiectasia were followed for 6 years. Unlike previously reported cases, these patients had progressive, debilitating neurological disease and slight pulmonary or infectious symptoms. Immunological dysfunction was variable and endocrinological defects were absent. Oculomotor findings, ao-fetoprotein levels, and the incidence of chromosomal breakage were the most consistent parameters in the diagnosis of the condition. This disease should be con-sidered in any patient with chronic ataxia, regardless of immunological findings or whether he has a history of infections. Boder and Sedgwick (1957) presented the first thorough review of ataxia-telangiectasia (A-T) and stressed the prevalence of sinopulmonary symptoms. The incidence of pulmonary complications was considered sufficiently significant to include them as part of the syndrome-ataxia, oculocutaneous telangiectasia, and recurrent sinopulmonary in-fections. Since then, reports have shown that sino-pulmonary infections occur in 45 to 81 % of cases (Boder and Sedgwick, 1958, 1963; Peterson et al., 1964; McFarlin et al., 1972; Polmar et al., 1972). Search for the possible cause or causes of this increased incidence of infection in A-T led to a series of articles describing a variety of immuno-logical abnormalities including lymphopenia, decreased lymphoid tissue (Eisen et al., 1965), significant deficiency or absence of IgA (Firema