Pathological findings in three cases of ataxia-telangiectasia

Abstract

Ataxia-telangiectasia is a familial cerebellar degenera- tion of childhood associated with telangiectases and frequent infections of the lungs and air sinuses. It was first described by Louis-Bar in 1941, but it has only become more widely known since Boder and Sedg- wick drew attention to the condition with its peculiar and stereotyped symptoms in several papers (Boder and Sedgwick, 1958, 1963, and 1964). The clinical features of some 100 cases have now been recorded but only about a dozen necropsies have been reported. This paper presents the findings in three more necropsies, including some pathological features which have not been described before.