Abstract：
Focal cortical dysplasia (FCD) represents a heterogeneous group of morphological changes in the brain tissue that can predispose the development of pharmacoresistant epilepsy (recurring, unprovoked seizures which cannot be managed with medications). This group of neurological disorders affects not only the cerebral cortex but also the subjacent white matter. This work reviews the literature describing the morphological substrate of pharmacoresistant epilepsy. All illustrations presented in this study are obtained from brain biopsies from refractory epilepsy patients investigated by the authors. Regarding classification, there are three main FCD types, all of which involve cortical dyslamination. The 2022 revision of the International League Against Epilepsy (ILAE) FCD classification includes new histologically defined pathological entities: mild malformation of cortical development (mMCD), mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy (MOGHE), and \"no FCD on histopathology\". Although the pathomorphological characteristics of the various forms of focal cortical dysplasias are well known, their aetiologic and pathogenetic features remain elusive. The identification of genetic variants in FCD opens an avenue for novel treatment strategies, which are of particular utility in cases where total resection of the epileptogenic area is impossible.
摘要：
局灶性皮质发育不良（FCD）代表了一组异质的脑组织形态变化，这些变化可能会导致药物抗性癫痫的发展（复发，无缘无故的癫痫发作，不能用药物治疗）。这组神经系统疾病不仅影响大脑皮层，还影响下的白质。这项工作回顾了描述药物抗性癫痫形态底物的文献。本研究中提供的所有插图均来自作者调查的难治性癫痫患者的脑活检。关于分类，有三种主要的FCD类型，所有这些都涉及皮质发育不良。2022年修订的国际抗癫痫联盟（ILAE）FCD分类包括新的组织学定义的病理实体：皮质发育轻度畸形（mMCD），额叶癫痫（MOGHE）皮质发育轻度畸形伴少突胶质增生，和“组织病理学无FCD”。尽管各种形式的局灶性皮质发育不良的病理形态学特征是众所周知的，他们的病因和致病特征仍然难以捉摸。FCD中遗传变异的鉴定为新的治疗策略开辟了一条途径。在不可能完全切除致癫痫区域的情况下特别有用。
