Kumar Ananyaa, Juhász Csaba, Luat Aimee, Govil-Dalela Tuhina, Behen Michael E, Hicks Melissa A, Chugani Harry T
1 PET Center and Translational Imaging Laboratory, Children's Hospital of Michigan, Detroit, MI, USA.
2 Department of Pediatrics, Wayne State University School of Medicine, Detroit, MI, USA.
J Child Neurol. 2018 Nov;33(13):832-836. doi: 10.1177/0883073818796373. Epub 2018 Sep 5.
Three children with drug-refractory epilepsy, normal magnetic resonance image (MRI), and a heterozygous SCN1A variant underwent 2-deoxy-2-[F]fluoro-d-glucose positron emission tomography (FDG-PET) scanning between age 6 months and 1 year and then at age 3 years 6 months to 5 years 5 months. Regional FDG uptake values were compared to those measured in age- and gender-matched pseudo-controls. At baseline, the brain glucose metabolic pattern in the SCN1A group was similar to that of the pseudo-controls. At follow-up, robust decreases of normalized FDG uptake was found in bilateral frontal, parietal and temporal cortex, with milder decreases in occipital cortex. Children with epilepsy and an SCN1A variant have a normal pattern of cerebral glucose metabolism at around 1 year of age but develop bilateral cortical glucose hypometabolism by age 4 years, with maximal decreases in frontal, parietal, and temporal cortex. This metabolic pattern may be characteristic of epilepsy associated with SCN1A variants and may serve as a biomarker to monitor disease progression and response to treatments.
三名患有药物难治性癫痫、磁共振成像（MRI）正常且携带杂合型SCN1A变异的儿童，在6个月至1岁之间接受了2-脱氧-2-[F]氟-D-葡萄糖正电子发射断层扫描（FDG-PET），随后在3岁6个月至5岁5个月时再次接受扫描。将区域FDG摄取值与年龄和性别匹配的假对照中测量的值进行比较。在基线时，SCN1A组的脑葡萄糖代谢模式与假对照相似。在随访中，发现双侧额叶、顶叶和颞叶皮质的标准化FDG摄取显著降低，枕叶皮质的降低程度较轻。患有癫痫且携带SCN1A变异的儿童在1岁左右时脑葡萄糖代谢模式正常，但到4岁时会出现双侧皮质葡萄糖代谢减低，额叶、顶叶和颞叶皮质的降低最为明显。这种代谢模式可能是与SCN1A变异相关癫痫的特征，可作为监测疾病进展和治疗反应的生物标志物。
