Abstracts

To reveal abnormality of glucose metabolism in patients with severe myoclonic epilepsy in infancy (SMEI) that was diagnosed by mutation analysis of SCN1A. The FDG-PET analysis of genetically confirmed patients with SMEI has not been reported so far., FDG-PET was performed on 5 patients with SMEI. The mutation analysis of SCN1A revealed missense mutation in all 5 patients. The patients[apos] age on the PET study was 2, 2, 6, 12, and 13 years-old, respectively. The image was obtained during wakefulness. The results was inspected visually and evaluated semi-quantitatively. The patients[apos] DQ/IQ was 62, 52, 30, 22, 20, respectively., Normal glucose metabolism pattern was obtained from two younger cases aged two years-old whose interictal EEG showed no epileptic discharges. On the other hand, profound abnormality was detected in the older patients whose interictal EEG showed frequent irregular spike-waves over bilateral frontal to parietal areas. The hypometabolism of bilateral temporo-parietal association cortex was detected in two cases aged 12 and 13. The diffuse hypometabolism of bilateral fronto-parieto-temporal areas was observed in a case aged 6. These abnormalities are not clearly detected by ECD-SPECT study., FDG-PET in patients with SMEI revealed for the first time progressive deterioration of cerebral glucose metabolism starting from the association cortex along with aging. At present it is not known whether these progressive dysfunction of cerebral cortex is secondary to the repetitive seizure activity or a feature of SMEI itself., (Supported by Research Grant (16A-5) for Nervous and Mental Disorders from the Ministry of Health, Labour and Welfare.)