title: Ataxia-telangiectasia associated with torticollis: report of a case.
abstract: 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.
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
authors.forename: S J
authors.initials: SJ
authors.lastname: Huang
authors.forename: J M
authors.initials: JM
authors.lastname: Chu
authors.forename: Y T
authors.initials: YT
authors.lastname: Tsai
authors.forename: P J
authors.initials: PJ
authors.lastname: Wang
authors.forename: K H
authors.initials: KH
authors.lastname: Hsieh
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications*; D002648:Child; D005260:Female; D006801:Humans; D014103:Torticollis / Q000209:etiology*