Vieker Silvia, Schmitt Jörg, Längler Alfred, Schmidt Winfried, Klepper Joerg
Department of Integrative Pediatric Medicine, Gemeinschaftskrankenhaus, Herdecke, Germany.
Neuropediatrics. 2012 Oct;43(5):275-8. doi: 10.1055/s-0032-1324399. Epub 2012 Sep 13.
Glucose transporter 1 (GLUT1) deficiency syndrome (DS) results from impaired glucose transport into brain. We describe the case of an 8-year-old girl with early-onset myoclonic epilepsy unresponsive to eight anticonvulsants. Oral steroid treatment achieved dramatic seizure control at the expense of Cushing syndrome and progressive fatty liver disease. Steroid withdrawal resulted in severe seizure exacerbation but was eventually enforced for lumbar puncture. GLUT1DS was diagnosed by hypoglycorrhachia and a heterozygous SLC2A1 mutation (Arg400His). A ketogenic diet resulted in effective seizure control. Steroids in GLUT1DS are unusual and unreported. Here a remarkable immediate and effective seizure control and a dose-independent unsuccessful steroid withdrawal indicated a potential GLUT1 sensitivity to steroids. We review the literature on GLUT1/steroid interactions and propose that unusual steroid sensitivity in intractable childhood epilepsy might be indicative for GLUT1DS.
葡萄糖转运蛋白1（GLUT1）缺乏综合征（DS）是由葡萄糖向脑内转运受损所致。我们描述了一名8岁女孩的病例，她患有早发性肌阵挛性癫痫，对8种抗惊厥药物均无反应。口服类固醇治疗虽以库欣综合征和进行性脂肪肝病为代价，但实现了显著的癫痫控制。停用类固醇导致癫痫严重加剧，但最终因腰椎穿刺而被迫停药。通过脑脊液低糖血症和杂合子SLC2A1突变（Arg400His）诊断为GLUT1DS。生酮饮食有效控制了癫痫发作。GLUT1DS中使用类固醇的情况不同寻常且此前未被报道。在此病例中，类固醇对癫痫发作有显著的即时且有效的控制作用，且停药失败与剂量无关，这表明GLUT1对类固醇可能敏感。我们回顾了关于GLUT1/类固醇相互作用的文献，并提出儿童难治性癫痫中不同寻常的类固醇敏感性可能提示GLUT1DS。
