癫痫杂志

癫痫杂志

起始于腹侧运动皮质的癫痫发作与 DEPDC5 基因突变一例及文献复习

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目的以运动皮质细胞构筑的观点剖析 1 例腹侧运动皮层起始的癫痫发作的症状学及致痫网络,并探讨 DEPDC5 基因突变癫痫患者相关局灶性发育不良(Focal cortical dycplasia,FCD)的影像学特点。方法系统评估 1 例 DEPDC5 基因突变的耐药性癫痫患者,明确致痫区,行手术治疗,并结合文献进行分析。结果患者的核磁共振提示中央前沟降支可疑 FCD,行立体定向电极植入,详细分析间隙期和发作期立体定向脑电图(SEEG)和症状学特征,明确发作起始区在左侧中央前沟降支的异常影像改变核心部分,早期扩散到同侧岛前小叶、中央盖及中央前回腹侧部,因此可理解症状学中早期出现右上肢肌张力障碍,继而舞蹈徐动样症状。手术切除致痫区,病理证实为 FCDI 型,术后 1 个月无发作。其他家系中,FCD 出现较多的在运动皮质,经 SEEG 证实的致痫区除多数在运动皮质外,还可在岛前小叶。结论中央前沟降支起始的癫痫发作可早期出现对侧肌张力障碍和同侧舞蹈徐动样症状;DEPDC5 基因突变需警惕大脑运动皮质隐匿的 FCD。

ObjectiveWe report a special case to explain seizure semiology and epileptogenic network of seizure arising from ventral motor cortex, and to explore Focal cortical dycplasia (FCD) features on MR of epileptic patients with DEPDC5 mutation.MethodsA drug-resistant focal epilepsy patient with DEPDC5 mutation was underwent a detailed presurgical evaluation. The epileptogenic area(EA) was localized with SEEG and removed later by surgery. Related literatures were thoroughly reviewed.ResultsSubtle FCD of ventral branch of inferior precentral sulcus(IPv) on MR(1.5T) was noticed. With SEEG recording, seizure onset zone was detected on IPv with the probable lesion, early spreading to anterior insula, central operculum and ventral precentral gyrus. According to the architectures of ventral motor trend, seizure semiology with evolution from contralateral dystonia to ipsilateral chorea movement could be better comprehended. Seizure was controlled after totally resection on the sites of IPv, anterior insula, and central operculum. Pathological change was FCD type I. Other literatures reported that DEPDC5 mutation related FCD may be located in motor system, and seizure onset could also be in anterior insula cortex besides motor cortex in other SEEG cases.ConclusionsEarly contralateral dystonia and chorea movement could be definite figures of seizure arising from inferior precentral sulcus; DEPDC5 mutation maybe a clue to find subtle FCD in motor cortex.

关键词: DEPDC5 突变; 运动皮质; 癫痫症状学; 局灶性发育不良

Key words: DEPDC5 mutation; Ventral motor cortex; Seizure semiology; Focal cortical dysplasia

引用本文: 胡湘蜀, 费凌霞, 李恺煇, 李淡芳, 欧阳梅, 李花, 陈俊喜, 张伟, 郭强. 起始于腹侧运动皮质的癫痫发作与 DEPDC5 基因突变一例及文献复习 . 癫痫杂志, 2018, 4(4): 306-313. doi: 10.7507/2096-0247.20180050 复制

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