Abstracts

Rationale: To elucidate abnormalities of brain glucose metabolism in patients with pyridoxine dependent seizures, who have a mutation in antiquitin (ALDH7A1) gene. Methods: Two brothers (38, 34 years old) are included in this study. Patient 1(38 yrs) had frequent neonatal seizures and B6 injection was found to be effective at 4 months old. After taking pyridoxine (100mg per day) seizures have been completely controlled so far. A mutation in antiquitin (ALDH7A1) gene was confirmed recently. IQ (WAIS-R) studied at 38 yrs-old was 55 (VIQ64, PIQ54). Patient 2 is younger sister of patient 1. She had neonatal seizures at day 2 and immediately controlled by pyridoxine injection. Since then no seizure appeared with continuous pyridoxine administration. IQ at 4 yrs old was 60. EEG showed spike-waves in bilateral occipital areas at 4 yrs age but there was no epileptic changes in the follow up period. MRI was normal. IQ (WAIS-R) studied at 33 yrs-old was 45 (VIQ46, PIQ54). FDG-PET was studied at 37 and 32 yeas old to elucidate if there are any abnormalities in glucose metabolism specific to pyridoxine dependent seizures. Voxel-based t-statistics were applied using SPM2. Results: Hypometabolism of prefrontal cortices, precentral gyrus, temporo-parietal cortices are observed in both patients. Hypermetabolism of anterior cingrate gyrus was observed in both patients. Conclusions: This is the first FDG-PET analysis applied to the patients with genetically confirmed pyridoxine dependent seizures. More cases are needed to confirm if the present PET findings are specific to this disorder or not. The present study shows that even in patient whose neonatal seizures are successfully controlled the mental deficit is inevitable. PET findings may indicate vulnerable brain regions for pyridoxine dependent seizures.