Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses

Abstract

Ataxia telangiectasia is an inherited disorder characterised clinically by progressive cerebellar ataxia, telangiectasia of the skin and eye often with repeated sinus and lung infections (Boder & Sedgwick, 1958). The ataxia is usually noted when the child starts to walk and is progressive, while telangiectasia is unusual before the age of five. Immunological deficiencies, whether cellular or humoral, are found in the majority of patients (Eisen et al, 1965; Epstein et al, 1966; Fireman et al, 1964; Peterson et al, 1964; Rosenthal et al, 1964; Young et al, 1964). Affected individuals are known to have a high incidence of cancer and leukaemia (Boder & Sedgwick, 1958; Dunn et al, 1964; Peterson et al, 1964; Smeby, 1966; Toledano & Lange, 1980). An unexpectedly severe reaction to ionising irradiation has been observed (Cunliffe et al, 1975; Gotoff et al, 1967; Morgan et al, 1968). Excessive chemosensitivity and the control of the disease by unusually low doses of both modalities have not been reported before. We report a patient with ataxia telangiectasia who demonstrated severe sensitivity to radiation and chemotherapy, and who was apparently cured in spite of what might be considered inadequate therapy. A 9-year-old boy was referred for treatment of a nasopharyngeal undifferentiated lymphoma. At the age of five he had been diagnosed as having ataxia telangiectasia. At the age of seven he had pneumonia. The first symptom that the mother noted was foul-smelling breath. A nasopharyngeal mass was found, biopsied and reported as malignant lymphoma.