DYSTONIA IN ATAXIA-TELANGIECTASIA - REPORT OF A CASE WITH PUTAMINAL LESIONS AND DECREASED STRIATAL [I-123] IODOBENZAMIDE BINDING

A 6-year-old girl with ataxia telangiectasia and severe progressive dy stonic posturing is presented. Magnetic resonance imaging showed cereb ellar atrophy and a right-sided putaminal lesion. A single-photon emis sion computed tomography study of cerebral dopamine-(D2)-receptor bind ing with [I-123]iodobenzamide showed a decreased tracer uptake in the striatum bilaterally. Dystonia deteriorated with levodopa treatment, w hereas trihexyphenidyl led to significant improvement. Although dyston ic symptoms have been repeatedly described in ataxia telangiectasia, t his is the first report demonstrating structural and functional basal ganglia abnormalities in this disorder.