Russ Jeffrey B, Agarwal Sonika, Venkatesan Charu, Scelsa Barbara, Vollmer Brigitte, Tarui Tomo, Pardo Andrea C, Lemmon Monica E, Mulkey Sarah B, Hart Anthony R, Nagaraj Usha D, Kuller Jeffrey A, Whitehead Matthew T, Cohen Jennifer L, Gebb Juliana S, Glenn Orit A, Norton Mary E, Gano Dawn
Division of Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
Division of Neurology and Pediatrics, Children's Hospital of Philadelphia; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Brain. 2025 Jun 3;148(6):1888-1903. doi: 10.1093/brain/awaf094.
Malformations of cortical development (MCDs) are a heterogeneous family of congenital brain malformations that originate from disturbed development of the cerebral cortex. MCDs can arise from primary genetic disorders that lead to dysfunction of the molecular processes controlling neuronal proliferation, neuronal migration, cortical folding or cortical organization. MCDs can also result from secondary, disruptive causes, such as congenital infection or other in utero brain injuries. Sequelae of MCDs can include epilepsy, intellectual disability and cerebral palsy, among other symptoms, with a high burden of paediatric morbidity. Advances in antenatal genetic testing and imaging have improved the ability to diagnose MCDs, yet limited literature exists to aid clinicians in prognostication of outcomes and perinatal management. These clinical realities can make it challenging for clinicians caring for fetal neurological conditions to counsel families and make recommendations for interdisciplinary care. We aim to review the literature on fetal MCDs and present practice guidelines for clinicians regarding the pre- and postnatal management of MCDs.
皮质发育畸形(MCDs)是一类先天性脑畸形的异质性疾病,起源于大脑皮质发育紊乱。MCDs可由原发性遗传疾病引起,这些疾病导致控制神经元增殖、神经元迁移、皮质折叠或皮质组织的分子过程功能障碍。MCDs也可由继发性破坏因素引起,如先天性感染或其他宫内脑损伤。MCDs的后遗症可包括癫痫、智力残疾和脑瘫等其他症状,给儿童发病率带来沉重负担。产前基因检测和成像技术的进步提高了诊断MCDs的能力,但有助于临床医生进行预后评估和围产期管理的文献有限。这些临床现实可能使照顾胎儿神经系统疾病的临床医生在为家庭提供咨询并提出跨学科护理建议时面临挑战。我们旨在回顾关于胎儿MCDs的文献,并为临床医生提供有关MCDs产前和产后管理的实践指南。