Wong-Kisiel Lily C, Blauwblomme Thomas, Ho Mai-Lan, Boddaert Nathalie, Parisi Joseph, Wirrell Elaine, Nabbout Rima
Department of Neurology, Mayo Clinic, 200 First St., SW, Rochester, MN, 55905, USA.
Department of Pediatric Neurosurgery, Hôpital Necker, Assistance Publique Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, 149 rue de Sevres, 75015, Paris, France.
Epilepsy Res. 2018 Sep;145:1-17. doi: 10.1016/j.eplepsyres.2018.05.006. Epub 2018 May 14.
Focal cortical dysplasia (FCD) is the most common cause of intractable focal epilepsy in children, in whom seizures are most commonly pharmacoresistant from onset. This review summarizes the current understandings of the epidemiology, natural history, and the proposed mechanisms of epileptogenisis in FCD. Advances in neuroimaging techniques have enhanced the recognition of this pathology, which can be subtle. Illustrative neurophysiology and imaging examples are provided to help the clinicians identify diagnostic evidence of suspected FCD. Given the refractory course to pharmacologic management, alternative options such as ketogenic diet, resective surgery or neuromodulation can be considered. Recognition of FCD pathology in children with early onset epilepsy should prompt timely evaluations for resective surgery, which may render a significant number of patients seizure-free and improve neurocognitive outcome.
局灶性皮质发育不良（FCD）是儿童难治性局灶性癫痫最常见的病因，这些患儿的癫痫发作通常从一开始就对药物治疗耐药。本综述总结了目前对局灶性皮质发育不良的流行病学、自然史以及癫痫发生机制的认识。神经影像学技术的进步提高了对这种可能很细微的病理状况的识别能力。文中提供了具有说明性的神经生理学和影像学实例，以帮助临床医生识别疑似局灶性皮质发育不良的诊断证据。鉴于药物治疗的难治性病程，可以考虑采用生酮饮食、切除性手术或神经调节等替代方案。对于早发性癫痫患儿识别出局灶性皮质发育不良病理状况，应促使及时评估切除性手术，这可能使大量患者无癫痫发作并改善神经认知结果。
