探讨局灶性皮质发育不良(FCD)的诊断学特征。

回顾性分析1例于2017年7月24日因肢体抽搐、意识不清在济宁医学院附属医院神经内科就诊的磁共振(MRI)阴性FCD患者的临床、实验室检查及影像学资料，并文献复习。

患者为青年女性，癫痫病史12余年，服用丙戊酸钠缓释片、左乙拉西坦片、卡马西平片等多种抗癫痫药物，效果不佳。入院行丙戊酸血药浓度示0.05 μg/L；视频脑电图示右后头部导联可见频发散在或成簇出现的中高幅度尖波、尖慢复合波，右顶叶为著；癫痫序列颅脑MRI扫描未见异常；¹⁸氟-氟脱氧葡萄糖-正电子发射断层显像(¹⁸F-FDG PET/CT)示右侧顶叶较对侧葡萄糖代谢明显减低；FDG-PET/MR融合显像示右侧顶叶异常信号；术前评估完全后在静吸复合麻醉下行右侧顶叶癫痫灶切除术，术中见右侧顶叶后部蛛网膜增厚、脑皮质萎缩；触诊脑组织显示顶下小叶发硬；术后常规病理证实为FCD Ⅱa型。术后卡马西平片治疗，6个月后随访，患者未再出现癫痫发作(Engel分级：Ⅰ级)。

MRI阴性的FCD诊断具有一定的困难，需要结合临床医生经验、患者临床表现、神经电生理检查、影像学检查等，方可做出正确诊断。FCD是药物难治性癫痫的重要病因，当颅脑MRI未发现病灶时，也应怀疑FCD的发生。

To explore the diagnostic features of focal cortical dysplasia (FCD).

The patient was a young women, and was admitted to neurology department of the Affiliated Hospital of Jining Medical University for convulsion and unconsciousness. The clinical data of negative MRI epileptogenic FCD was analyzed retrospectively. Literatures were reviewed and features of clinical diagnosis of FCD were summarized.

The patient had a history of epilepsy over 12 years with taking kinds of antiepileptic drugs (sodium valproate sustained release tablets, levetiracetam tablets, carbamazepine tablets), which were of poor curative effect. On admission, valproate plasma concentration was 0.05 μg/L. Electroencephalogram(EEG) showed that the right posteri head, especially the right parietal lobe was frequently scattered or clustered with a high amplitude spike, a slow compound wave. The MRI of epilepsy sequence was negative, while the ¹⁸F-FDG PET/CT showed a significant decrease in glucose metabolism in the right parietal lobe. And finally the FDG-PET/MR showed abnormal signal on the right parietal lobe. After the preoperative evaluation was complete, the epileptic foci resection of right parietal lobe was performed. The posterior arachnoid of the right parietal lobe was thickened and cerebral cortex atrophy was seen in the operation. The result of pathology proved to be FCD Ⅱa type. After 6 months follow-up, the patient did not have an epileptic seizure.

Diagnosis of MRI negative FCD has certain difficulties, it needs to be combined with clinical doctors′ experience, patients′ clinical manifestations, imaging examination, etc. FCD is an important cause of drug refractory epilepsy, and it should also be suspected that FCD occurs when the lesion is not detected by MRI.