Affiliation:
1. Pediatric Neurology Unit, Department of Pediatrics, KidZ Health Castle UZ Brussel Brussels Belgium
2. Neurogenetics Research Group Vrije Universiteit Brussel Brussels Belgium
3. Center for Medical Genetics UZ Brussel Brussels Belgium
4. Pediatric Neurology Unit, Department of Pediatrics Antwerp University Hospital Antwerp Belgium
5. Translational Neurosciences University of Antwerp Antwerp Belgium
Abstract
AbstractMalformations 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.
Funder
Fonds Wetenschappelijk Onderzoek