Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Epilepsy Behav. 2011 Mar;20(3):494-501. doi: 10.1016/j.yebeh.2010.12.046. Epub 2011 Feb 2.
We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.
我们描述了两名吡哆醛 5'-磷酸依赖性癫痫（PLP-DE）患者的脑电图和临床发作表现[通过低脑脊髓液（CSF）PLP 诊断，PLP 补充完全缓解以前难以治疗的癫痫发作，吡哆醇依赖性癫痫 CSF 生物标志物阴性，和/或阳性致病吡哆（胺）5'-磷酸氧化酶基因突变]，并对文献进行了全面回顾。一名患者表现为新生儿强直状态癫痫，随后出现全身强直阵挛性发作，另一名患者 2 岁时出现难治性复杂部分性发作。治疗前的脑电图显示，发作间期有爆发抑制、多灶性独立尖波和睡眠性电持续状态。发作间期和发作期显示单侧棘波/慢波发作。以前报道的特征包括爆发抑制、肌阵挛、强直发作、阵挛发作和痉挛。在适当的临床情况下，上述特征应提示存在 PLP-DE 的可能性，并应开始进行适当的治疗。报告了首例迟发性 PLP-DE 病例（2 岁）。
