Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Neuroradiology Unit, Imaging Department, Centro Hospitalar Vila Nova de Gaia/Espinho (CHVNG/E), Vila Nova de Gaia, Portugal.
Brain. 2020 Oct 1;143(10):2874-2894. doi: 10.1093/brain/awaa174.
Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.
皮质发育畸形是一组罕见的疾病，常表现为发育迟缓、脑瘫或癫痫发作。神经学预后结果因畸形的类型、程度和严重程度以及涉及的脑发育遗传途径而异。神经影像学在这些畸形的诊断中起着至关重要的作用，但关于皮质发育畸形的定义和分类仍存在一些问题。本共识声明旨在为神经影像学模式解释提供皮质发育畸形的标准化术语和分类。一个由国际儿科神经放射学专家组成的委员会在欧洲脑畸形网络神经-MIG 倡议（https://www.neuro-mig.org/）的背景下，通过共识会议，与遗传学家、儿科神经病学家和病理学家合作，编写了系统的文献综述并制定了神经影像学建议。提供皮质发育畸形的神经影像学特征和实用建议，以帮助在实践中可能遇到皮质发育畸形患者的专家和非专家放射科医生和神经科医生，旨在提高全球皮质发育畸形的诊断和影像学解读水平。
