Buompadre María Celeste
Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires. Argentina. E-mail:
Medicina (B Aires). 2024 Sep;84 Suppl 3:32-38.
Malformations of cortical development (MCDs) are structural abnormalities that disrupt the normal process of cortical development in utero. MCDs include microcephaly with simplified gyral pattern/microlyssencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. The debut of MCD can be with pharmacoresistant epilepsy, developmental delay, neurologic deficits, or cognitive impairment. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and etiology. Although the definitive diagnosis of MCD depends on histopathology, neuroimages have an important role in this process. Furthermore, knowing the disturbance of the molecular pathway involved is important. Increased understanding of the molecular biology and recent advances in genetic testing have caused rapid growth in the knowledge of the genetic causes of MCDs, allowing for information on prognosis, recurrence risk, and prediction of treatment outcomes.
皮质发育畸形（MCDs）是指在子宫内扰乱皮质正常发育过程的结构异常。MCDs包括脑回模式简化/微小无脑回畸形的小头畸形、半侧巨脑症、局灶性皮质发育不良、无脑回畸形、异位症、多小脑回畸形和脑裂畸形。MCDs的首发症状可能是药物难治性癫痫、发育迟缓、神经功能缺损或认知障碍。由于临床表现和病因差异很大，MCDs的诊断途径很复杂。虽然MCDs的确诊依赖于组织病理学，但神经影像学在这一过程中发挥着重要作用。此外，了解所涉及的分子途径的紊乱情况也很重要。对分子生物学认识的增加以及基因检测方面的最新进展，使得人们对MCDs遗传病因的了解迅速增长，从而能够提供有关预后、复发风险和治疗结果预测的信息。
