Sindhurakasturi1, Lalat Barun Patra2, Rajesh Kumar Sethi3, D. P. Patra4
ABSTRACT: Ataxia-telengiectasia (AT) is characterized by slowly progressive cerebellar ataxia, occulomotor apraxia, choreoathetosis, telangiectasis of the skin and conjunctivae, susceptibility to sinobronchopulmonary infections, lymphoreticular neoplasia, other malignancies, and sensitivity to ionizing radiation. It was described by Syllaba and Henner in 1926, by Louis-Bar in 1941, and more definitively in 1958 by Boder and Sedgwick, who presented the first clinical and neuropathologic delineation of the disease and named it AT. [1]