Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.
Epilepsy Res. 2019 Nov;157:106189. doi: 10.1016/j.eplepsyres.2019.106189. Epub 2019 Aug 13.
Type IIB focal cortical dysplasia (FCD) is an important cause of drug-resistant epilepsy. However, balloon cells located in the medial temporal lobe have been seldom reported. We aimed to discuss the clinical and pathological features of Type IIB FCD with balloon cells in the medial temporal lobe (MTLE-FCDIIB) and the differential diagnosis with other types of mesial temporal lobe epilepsy.
Three MTLE-FCDIIB cases were enrolled from Peking Union Medical College Hospital. Clinical and neuroimaging data were analyzed and histology features observed on hematoxylin-eosin (H&E) staining and immunochemical staining, including vimentin, nestin, S-100, CD34, neuronal nuclei antigen (Neun), glial fibrillary acidic protein (GFAP), neurofilament heavy chain (SMI32), were discussed.
All cases involved drug-resistant epilepsy patients with childhood onset. The semiology of the epileptic seizure was a highly frequent partial seizure with or without generalized tonic-clonic seizures. Magnetic resonance imaging showed hyper-intensity in the medial temporal lobe without atrophy, different from mesial temporal sclerosis. Histological examination indicated the presence of balloon cells in the white matter of the para-hippocampal gyrus, subiculum, and cornu ammonis with cortical disorganization, and SMI32 positive dysmorphic neurons in the gray matter. Balloon cells were immunohistochemically stained with vimentin and nestin. Granular cell dispersion and pyramidal cell loss were not found.
The presence of balloon cells in the medial temporal lobe is observed in a rare subgroup of FCD, named MTLE-FCDIIB. It has distinct clinical manifestations, neuroimaging features, pathological changes, and prognosis, which should be differentiated from mesial temporal lobe sclerosis and mesial temporal lobe tumors. Our findings enable more accurate diagnosis of mesial temporal lobe epilepsy.
IIB 型局灶性皮质发育不良（FCD）是耐药性癫痫的重要病因。然而，位于颞叶内侧的气球样细胞则少见报道。本研究旨在探讨伴有颞叶内侧气球样细胞的 IIB 型 FCD（MTLE-FCDIIB）的临床和病理学特征，并与其他类型的颞叶内侧癫痫进行鉴别诊断。
收集北京协和医院 3 例 MTLE-FCDIIB 患者的临床和神经影像学资料，并进行分析，观察苏木精-伊红（H&E）染色及免疫组化染色（包括波形蛋白、巢蛋白、S-100、CD34、神经元核抗原（Neun）、胶质纤维酸性蛋白（GFAP）、神经丝重链（SMI32））的组织学特征。
所有病例均为药物难治性癫痫，且起病年龄早。癫痫发作的半侧性症状高度频繁，表现为部分性发作，部分伴有全面强直-阵挛发作。磁共振成像（MRI）显示颞叶内侧高信号，无萎缩，不同于海马硬化。组织学检查发现，海马旁回、下托和角回的白质中有气球样细胞，皮质排列紊乱，灰质中有 SMI32 阳性的形态异常神经元。免疫组化染色示，气球样细胞表达波形蛋白和巢蛋白。未见颗粒细胞弥散和锥体神经元丢失。
在 FCD 的一个罕见亚组中，即伴有颞叶内侧气球样细胞的 IIB 型 FCD（MTLE-FCDIIB）中，可见到颞叶内侧的气球样细胞。其临床表现、神经影像学特征、病理学改变和预后均与海马硬化和颞叶肿瘤不同，有助于更准确地诊断颞叶内侧癫痫。
