Fauser Susanne, Sisodiya Sanjay M, Martinian Lillian, Thom Maria, Gumbinger Christoph, Huppertz Hans-Jürgen, Hader Claudia, Strobl Karl, Steinhoff Bernhard J, Prinz Marco, Zentner Josef, Schulze-Bonhage Andreas
Epilepsy Center, Department of Neurosurgery, University of Freiburg, Breisacher Strasse 64, 79106 Freiburg, Germany.
Brain. 2009 Aug;132(Pt 8):2079-90. doi: 10.1093/brain/awp145. Epub 2009 Jun 8.
This study describes the existence and the clinical and electrophysiological features of multi-focal cortical dysplasia in epilepsy patients. Five patients with intractable focal epilepsy are reported. All patients underwent invasive presurgical video-electroencephalography monitoring. Localization of dysplastic areas was based on high-resolution magnetic resonance scanning, surface and intracranial electroencephalography. Four patients underwent epilepsy surgery. Histological findings in focal cortical dysplasia (FCD) were classified according to Palmini. In addition, genetic examinations were performed in order to assess possible mutations in the genes for tuberous sclerosis complex. In four patients, FCDs were located in the same hemisphere. One case presented with bilateral FCDs. In three patients seizures arose from two separate dysplastic areas and in one patient, one lesion showed only interictal activity. In one further patient, seizures started exclusively from the hippocampus. In two of three patients with removal of the FCDs, the histological subtype was identical (Palmini type 2) and in one patient, histology differed between the lesions. All operated patients became seizure-free. In patients with FCD type 2, germ-line mutations in the tuberous sclerosis complex genes were not detectable. Dysplastic brain regions may not be restricted to a single brain region. Areas of FCD can have different degrees of epileptogenicity, ranging from electrographic silence to interictal epileptic discharges and initial involvement in seizure generation. Based on genetic analysis and clinical features, multi-FCD in this patient series was not likely to be related to tuberous sclerosis.
本研究描述了癫痫患者多灶性皮质发育异常的存在情况及其临床和电生理特征。报告了5例难治性局灶性癫痫患者。所有患者均接受了术前侵入性视频脑电图监测。发育异常区域的定位基于高分辨率磁共振扫描、头皮和颅内脑电图。4例患者接受了癫痫手术。局灶性皮质发育异常（FCD）的组织学发现根据帕尔米尼进行分类。此外，还进行了基因检测，以评估结节性硬化症基因的可能突变。4例患者的FCD位于同一半球。1例患者表现为双侧FCD。3例患者的癫痫发作源于两个独立的发育异常区域，1例患者的一个病灶仅显示发作间期活动。另有1例患者的癫痫发作仅起源于海马体。在3例切除FCD的患者中，有2例的组织学亚型相同（帕尔米尼2型），1例患者的病灶组织学不同。所有接受手术的患者均无癫痫发作。在2型FCD患者中，未检测到结节性硬化症复合基因的种系突变。发育异常的脑区可能不限于单一脑区。FCD区域可具有不同程度的致痫性，范围从脑电图无活动到发作间期癫痫放电以及最初参与癫痫发作的产生。基于基因分析和临床特征，该患者系列中的多灶性FCD不太可能与结节性硬化症相关。
