Striatal and pontocerebellar hypoperfusion in Hallervorden-Spatz syndrome

Hallervorden-Spatz syndrome is a group of rare and severe disorders marked by extrapyramidal symptoms and iron accumulation in the globi pallidi, usua lly visible by magnetic resonance imaging. To assist in determining the fun ctional correlates of these structural abnormalities, positron emission tom ography was used to measure regional cerebral blood flows and dopaminergic function in a patient with Hallervorden-Spatz syndrome that manifested as p rogressive generalized dystonia, optic atrophy, and bilateral pallidal "eye of the tiger" sign. Voxel-by-voxel analysis of positron emission tomograph y images revealed no pallidal abnormalities but demonstrated significant hy poperfusion of the head of the right caudate nucleus, pons, and cerebellar vermis. Dopaminergic function of the basal ganglia, which was assessed base d on visual-analysis of fixation of F-18-labeled fluoro-levodopa, was norma l. These data suggest that Hallervorden-Spatz syndrome pathogenesis is not confined to the globi pallidi, and these data also may help to generate new pathogenic hypothesis. (C) 2001 by Elsevier Science Inc. All rights reserv ed.