Ataxia telangiectasia: Neoplasia, untoward response to X-irradiation, and tuberous sclerosis

SP Gotoff, E Amirmokri, EJ Liebner - American journal of …, 1967 - jamanetwork.com
ATAXIA telangiectasia is an inherited disorder characterized by progressive cerebellar
ataxia and oculocutaneous telangiectasia. 1-3 Generally these patients have recurrent
sinopulmonary infections, and defects in cellular immunity and in the immunoglobulin
system have been recently documented. 4-9 An unusual propensity for the development of
neoplasia has become apparent. 2-4, 10-14 In previous cases the neoplasms have been
discovered close to or at the time of death, obviating therapy. Since this is apparently the first …