Ataxia-telangiectasia associated with torticollis: report of a case

Ataxia-telangiectasia (A-T) is an autosomal recessive, multisystem disease characterized clinically by the onset of progressive cerebellar ataxia at about one year of age, followed by the development of fan-shaped telangiectasia of bulbar conjunctiva, usually at four- to six-years of age; and frequent sinopulmonary infections. The outstanding pathological findings in the central nervous system in A-T are loss of Purkinje cells and, to a lesser degree, basket and granular cells of the cerebellum. Although choreoathetosis and myoclonic jerks had been described in patients with A-T, torticollis has never been reported in the literature. A 7-year-old girl with A-T and torticollis is therefore presented in this paper.