Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by oculocutaneous telangiectasia, cerebellar ataxia, and recurrent sinobronchial infections. Approximately 10% of patients with this syndrome are at risk for development of malignant neoplasms, of which acute leukemias make up a third of reported cases.1 Among other abnormalities, increased radiation sensitivity2 and defective DNA repair of skin fibroblasts3 have been observed. To our knowledge, we describe the first patient with AT in whom acute lymphocytic leukemia (ALL) developed and whose skin fibroblasts in vitro were shown to have this defect.
Report of a Case.—In May 1978, a 14-year-old black girl had a prolonged flu-like illness that was treated symptomatically at home for one month. Twenty-four hours before admission, a sore throat, high temperature, and difficulty in breathing developed in the patient.
The patient was the product of a term pregnancy and was delivered at home to
ALI SK, BOWMAN WP, AUR RJA. Increased Radiation Sensitivity of Fibroblasts in Ataxia Telangiectasia With Acute Lymphocytic Leukemia. Am J Dis Child. 1981;135(12):1142–1143. doi:10.1001/archpedi.1981.02130360046017
Customize your JAMA Network experience by selecting one or more topics from the list below.