In 1941 Madame Louis-Bar1 described a 9-year-old boy with progressive cerebellar ataxia and bilateral symmetrical telangiectasia involving the sclerae, the external ears, and the exposed skin of the extremities. The disease is usually familial and includes abnormality of eye movements, dysarthria, decreased deep reflexes, tendency to frequent sinopulmonary infections and retardation of physical development. Between 1956 and 1960, a series of independent reports from 8 medical centers described 22 children with this syndrome.2-11 The most notable of these is the excellent paper by Boder and Sedgwick, which reports on 8 cases.3 * The present report deals with another case which we have observed. The available literature is reviewed and discussed and the possible relationship of the disease to the hereditary ataxias and the phakomatoses is considered.
Report of Case
The patient was a 10-year-old Caucasian boy, admitted to Travis Air Force Base Hospital on April 10, 1959,
KOREIN J, STEINMAN PA, SENZ EH. Ataxia-Telangiectasia: Report of a Case and Review of the Literature. Arch Neurol. 1961;4(3):272–280. doi:10.1001/archneur.1961.00450090038006
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