Khandelwal Ayush, Aggarwal Ankita, Sharma Anuradha, Malik Amita, Bose Anindita
Department of Radiology, VMMC and Safdarjung Hospital, Delhi, India.
Department of Radiology, VMMC and Safdarjung Hospital, Delhi, India.
World Neurosurg. 2022 Mar;159:70-79. doi: 10.1016/j.wneu.2021.12.011. Epub 2021 Dec 8.
Malformations of cortical development (MCDs) are structural anomalies that disrupt the normal process of cortical development. These include microcephaly with simplified gyral pattern/microlissencephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizencephaly. They can present with intractable epilepsy, developmental delay, neurologic deficits, or cognitive impairment. Though the definitive diagnosis of MCD depends on histopathology, the pathologic tissue is rarely available; hence diagnosis begins with neuroimaging. This article shall briefly review the embryology, followed by specific magnetic resonance imaging features of MCD in an attempt to simplify the process of diagnosing these disorders with clinical and genetic correlation. A table has been included to highlight the embryologic, clinical, and genetic findings associated with various MCDs.
皮质发育畸形（MCDs）是破坏皮质正常发育过程的结构异常。这些异常包括脑回简化型小头畸形/微小脑回畸形、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。它们可表现为难治性癫痫、发育迟缓、神经功能缺损或认知障碍。虽然MCD的确诊依赖于组织病理学，但病理组织很少能获取到；因此诊断从神经影像学检查开始。本文将简要回顾胚胎学，接着阐述MCD的特定磁共振成像特征，试图简化这些疾病的诊断过程并进行临床和遗传学关联。文中包含一个表格，以突出与各种MCD相关的胚胎学、临床和遗传学发现。
