Lee Jeehun
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Korean J Pediatr. 2017 Jan;60(1):1-9. doi: 10.3345/kjp.2017.60.1.1. Epub 2017 Jan 31.
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.
皮质发育畸形是一种罕见的大脑皮质先天性异常，患者表现为顽固性癫痫和不同程度的发育迟缓。病例显示出一系列具有不同解剖和形态异常的皮质异常形成、多种遗传原因以及不同的临床表现。脑磁共振成像在确定皮质发育畸形的确切形态方面有很大帮助。畸形的假设机制包括以病毒感染、遗传原因和血管事件等形式在大脑皮质形成过程中的中断。遗传分析方法最近的显著进展增进了我们对这些病理机制的理解。本综述将讨论正常皮质发育、目前提出的畸形分类以及皮质发育畸形的诊断方法。
