Pediatric Neurology Unit, Department of Pediatrics, KidZ Health Castle, UZ Brussel, Brussels, Belgium.
Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
Dev Med Child Neurol. 2024 Aug;66(8):974-989. doi: 10.1111/dmcn.15882. Epub 2024 Feb 23.
Malformations of cortical development (MCDs) represent a heterogeneous spectrum of disorders characterized by atypical development of the cerebral cortex. MCDs are most often diagnosed on the basis of imaging, although subtle lesions, such as focal cortical dysplasia, may only be revealed on neuropathology. Different subtypes have been defined, including lissencephaly, heterotopia, cobblestone malformation, polymicrogyria, and dysgyria. Many MCDs are of genetic origin, although acquired factors, such as congenital cytomegalovirus infections and twinning sequence, can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCDs, which is illustrated with clinical vignettes, on diagnostic pitfalls such as somatic mosaicism and consanguinity, and recognizable phenotypes on imaging, such as tubulinopathies, the lissencephaly spectrum, tuberous sclerosis complex, and FLNA-related periventricular nodular heterotopia.
脑皮层发育畸形（MCDs）代表了一大类以脑皮层异常发育为特征的异质性疾病。MCD 通常基于影像学诊断，但细微病变，如局灶性皮质发育不良，可能仅在神经病理学上显示。已定义了不同的亚型，包括无脑回畸形、异位症、鹅卵石样畸形、多微小脑回畸形和脑回发育不良。许多 MCDs 具有遗传起源，尽管获得性因素，如先天性巨细胞病毒感染和孪生序列，也可能导致类似的表型。在这篇叙述性综述中，我们提供了 MCD 诊断方法的概述，并用临床病例来说明，包括诊断陷阱，如体细突变和近亲结婚，以及在影像学上可识别的表型，如微管蛋白病、无脑回畸形谱、结节性硬化症和 FLNA 相关脑室周围结节性异位症。
