RESUMO
BACKGROUND AND PURPOSE: Myoclonus-dystonia (MD) is a rare movement disorder characterized by myoclonic jerks, dystonia and a variety of psychiatric symptoms. Neuroimaging and electrophysiologic studies have not been able to detect any specific central nervous system abnormality. We report for the first time a well-characterized case with MD and abnormal brain perfusion imaging using single photon emission computed tomography (SPECT) with (99m)Tc-ethyl cysteinate dimer (ECD). A review of the literature on the phenotypic and pathogenetic considerations for MD is also presented. METHODS: To better define the functional regional central nervous system involvement in MD, we conducted a brain perfusion SPECT with (99m)Tc-ECD in a patient diagnosed with typical disease. RESULTS: Analysis of the SPECT data revealed significantly reduced regional cerebral blood flow (rCBF) in both temporal lobes (left > right and medial > lateral). Reduced rCBF was also observed in both frontal lobes and the right caudate nucleus. CONCLUSIONS: Our findings of reduced frontotemporal and striatal rCBF in the absence of other neuroimaging and electrophysiologic findings correlate well with the clinical manifestations in our patient and suggest possible functional/metabolic involvement of these areas in the etiopathogenesis of MD.