Cerebellar ataxia with ocular and cutaneous telangiectasia was first described in a 9-year-old Caucasian boy by Madame Louis-Bar1 in 1941. The next report in which there were similar findings was made in 1957 by Wells and Shy.2 These authors described two sisters who at the ages of 5 and 7 years experienced the onset of progressive ataxia followed, approximately 3 years later, by oculocutaneous telangiectasia. In 1957, Biemond3 also reported 4 similar cases, including 2 necropsies. In 1958, Boder and Sedgwick4 described 8 cases under the title "Ataxia-Telangiectasia." At approximately the same time 2 additional cases were reported by Centerwall and Miller.5 Since 1958 there have been additional sporadic reports7,9 bringing the total number of known cases of this unusual syndrome to 24.
The syndrome, as described by Boder and Sedgwick, has 4 main features— progressive cerebellar ataxia, progressive oculocutaneous telangiectasia, frequent sinopulmonary infections,
WILLIAMS HE, DEMIS DJ, HIGDON RS. Ataxia-Telangiectasia: A Syndrome with Characteristic Cutaneous Manifestations. Arch Dermatol. 1960;82(6):937–942. doi:10.1001/archderm.1960.01580060091013
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