[Skip to Content]
[Skip to Content Landing]
Article
April 1958

Ataxia, Telangiectasia, and Sinopulmonary Infections: A Syndrome of Slowly Progressive Deterioration in Childhood

Author Affiliations

Los Angeles
From the Department of Pediatrics, College of Medical Evangelists School of Medicine (Assistant Clinical Professor, Dr. Centerwall), Los Angeles, and the State School for Cerebral Palsied Children of Southern California (Superintendent, Dr. Miller), Altadena, Calif.

AMA Am J Dis Child. 1958;95(4):385-396. doi:10.1001/archpedi.1958.02060050387007
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 1941.1 We 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.

Report of Cases  Case 1.—A Caucasian boy was first referred to the State School for Cerebral

×