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December 1967

Ataxia TelangiectasiaNeoplasia, Untoward Response to X -Irradiation, and Tuberous Sclerosis

Am J Dis Child. 1967;114(6):617-625. doi:10.1001/archpedi.1967.02090270073006

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 instance in which a patient with ataxia telangiectasia has been treated for a lymphosarcoma, we wish to call attention to the severe untoward effect of a partial therapeutic dose of x-irradiation.

In addition, we found typical lesions of tuberous sclerosis in the brain and unusual hypertrophic cells in the renal tubules. These findings, associated with the development of a lymphosarcoma, suggest a generalized disturbance in the metabolic control of many cell types.

Report of a Case  A

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