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
CENTERWALL WR, MILLER MM. Ataxia, Telangiectasia, and Sinopulmonary Infections: A Syndrome of Slowly Progressive Deterioration in Childhood. AMA Am J Dis Child. 1958;95(4):385–396. doi:10.1001/archpedi.1958.02060050387007
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