Departments of Radiology, Evaggelismos Hospital, Athens, Greece.
J Neuroradiol. 2012 Oct;39(4):205-17. doi: 10.1016/j.neurad.2011.06.002. Epub 2011 Aug 9.
During development in utero of the human brain, an error in one or more of the orderly processes of neuroblast proliferation and differentiation, neuroblast migration and cortical organization may result in disordered neocortical development. Nowadays, the consequent malformations of the cerebral cortex and associated structures are detectable on pre- and postnatal examination with growing frequency, thanks to the evolution of modern imaging modalities. In particular, magnetic resonance imaging (MRI), due to its excellent contrast differentiation and multiplanar capabilities as well as the development of even newer techniques, such as diffusion tensor imaging and spectroscopy, has surpassed all other forms of imaging for the thorough exploration and analysis of congenital anomalies of the central nervous system. These malformations comprise a heterogeneous group of conditions in terms of both the timing and etiology of the developmental aberration as well as the resulting morphological phenotype, including epilepsy, developmental delay/intellectual disability and focal neurological deficits. This study briefly presents some typical examples of congenital malformations of cortical development of the human brain that are encountered in practice. It is our belief that familiarity with the MRI presentations of these conditions can be of considerable value for adequate disease management and genetic counseling.
在人类大脑的胚胎发育过程中，神经母细胞增殖和分化、神经母细胞迁移和皮质组织的有序过程中的一个或多个错误，可能导致皮质发育紊乱。如今，由于现代成像方式的发展，越来越频繁地在产前和产后检查中检测到随之而来的大脑皮层和相关结构的畸形。特别是磁共振成像（MRI），由于其出色的对比度差异和多平面能力以及新技术的发展，如扩散张量成像和光谱学，已经超越了所有其他形式的成像，用于彻底探索和分析中枢神经系统的先天性异常。这些畸形在发育异常的时间和病因以及由此产生的形态表型方面包括癫痫、发育迟缓/智力残疾和局灶性神经功能缺损，构成了一组异质条件。本研究简要介绍了在实践中遇到的一些人类大脑皮质发育先天性畸形的典型例子。我们相信，熟悉这些疾病的 MRI 表现对于疾病的充分管理和遗传咨询具有重要价值。
