Shimizu Miki, Maeda Tomoki, Izumi Tatsuro
Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Yufu, Oita, Japan.
Brain Dev. 2012 Aug;34(7):546-52. doi: 10.1016/j.braindev.2011.10.001. Epub 2011 Oct 22.
The epileptic characteristics and their differences in patients with porencephaly and schizencephaly were, respectively, evaluated. Eleven patients with porencephaly and eight patients with schizencephaly were retrospectively enrolled in this study. Five of the six patients with extensive porencephaly and all five patients with open-lip schizencephaly had been suffering from various types of epileptic seizures. Three patients with extensive porencephaly and all five patients with open-lip schizencephaly had presented with early onset seizures before 9 months of age. Two patients with extensive porencephaly and three patients with open-lip schizencephaly had presented with West syndrome. These two groups of patients with epileptic seizures showed generalized epilepsy or generalized epilepsy with unilateral dominancy at the onset, and then developed localization-related epilepsy or unilateral seizures with increasing age. The epileptic paroxysms showed multifocal independent spikes, which were not always localized in the defect or cleft sites at the last examination. Polytherapy or synergistic combinations were eventually introduced for these intractable seizures in both groups for patients without any evidence of efficacy. In the porencephaly patients, four of five patients achieved good seizure control with appropriate monotherapy or two-drug therapy including valproate. All five patients with schizencephaly had been treated by polytherapy, and three of them had persistent intractable seizures in spite of trying rational monotherapy or two-drug therapy. The epileptic intractability associated with open-lip schizencephaly might be related to the epileptogenesis of these extensive and widespread defective lesions, which were commonly associated with cortical dysplasia. A trial of rational monotherapy or two-drug therapy may be effective, rather than larger-number polytherapy in many cases, more in porencephaly than schizencephaly.
分别评估了脑穿通畸形和脑裂畸形患者的癫痫特征及其差异。本研究回顾性纳入了11例脑穿通畸形患者和8例脑裂畸形患者。6例广泛脑穿通畸形患者中有5例以及所有5例开放性脑裂畸形患者都曾患有各种类型的癫痫发作。3例广泛脑穿通畸形患者和所有5例开放性脑裂畸形患者在9个月龄前出现早发性癫痫发作。2例广泛脑穿通畸形患者和3例开放性脑裂畸形患者出现了韦斯特综合征。这两组癫痫发作患者在发病时表现为全身性癫痫或单侧优势的全身性癫痫，随后随着年龄增长发展为局灶性相关性癫痫或单侧癫痫发作。癫痫发作表现为多灶性独立棘波，在最后一次检查时并不总是局限于缺损或裂隙部位。对于两组中无任何疗效证据的难治性癫痫发作患者，最终都采用了联合治疗或协同组合治疗。在脑穿通畸形患者中，5例患者中有4例通过适当的单药治疗或包括丙戊酸盐在内的两药联合治疗实现了良好的癫痫控制。所有5例脑裂畸形患者均接受了联合治疗，其中3例尽管尝试了合理的单药治疗或两药联合治疗，但仍有持续性难治性癫痫发作。与开放性脑裂畸形相关的癫痫难治性可能与这些广泛且普遍存在的缺陷性病变的癫痫发生有关，这些病变通常与皮质发育异常有关。在许多情况下，合理的单药治疗或两药联合治疗试验可能有效，而不是大量联合治疗，在脑穿通畸形患者中比脑裂畸形患者更有效。
