[Skip to Navigation]
March 1961

Ataxia-Telangiectasia: Report of a Case and Review of the Literature

Author Affiliations

From the Departments of Neurology and Pediatrics, Travis Air Force Base Hospital.
Present Address of Dr. Korein: Department of Neurology, New York University-Bellevue Medical Center.

Arch Neurol. 1961;4(3):272-280. doi:10.1001/archneur.1961.00450090038006

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,

Add or change institution