Ataxia, Telangiectasia, and Sinopulmonary Infections

Abstract

Two case histories including one autopsy are presented here of children with such a similar and unusual course of disease that it appears to be a syndrome. These two children are unrelated, and both have been patients at the State School for Cerebral Palsied Children, Southern California. The older child, who recently died as a result of his disease at the age of 123/4 years, had been under close observation since 41/2 years of age. A third case is also included which was originally described by Madame Louis-Bar in the Swiss literature in 1941.¹We believe that her case may be the first description of this syndrome in the medical literature. The major features of the syndrome are slowly progressive ataxia, progressive symmetrical scleral-cutaneous telangiectasia, and increasing chronic and recurrent lung infections. <h3>Report of Cases</h3> Case1.—A Caucasian boy was first referred to the State School for Cerebral