Ataxia telangiectasia

Abstract

Ataxia telangiectasia' is the name given by Boder and Sedgwick (1958) to an entity characterized by progressive ataxia of cerebellar and extra-pyramidal type with onset in infancy; striking symmetrical telangiectasia affecting the bulbar sclera and the butterfly area of the face and other areas, including ears, palate, chest, and legs; frequent respiratory tract infections, and cafe-au-lait spots which may or may not be present.