Publication
Title
Diagnostic work-up in malformations of cortical development
Author
Abstract
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. Malformations of cortical development (MCDs) represent a heterogeneous spectrum of disorders, characterized by abnormal development of the cerebral cortex. Many MCDs are of genetic origin, although acquired factors can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCD, illustrated with clinical vignettes.image
Language
English
Source (journal)
Developmental medicine and child neurology. - London
Publication
Hoboken : Wiley , 2024
ISSN
0012-1622
DOI
10.1111/DMCN.15882
Volume/pages
66 :8 (2024) , p. 974-989
ISI
001168045500001
Pubmed ID
38394064
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Project info
What brain malformations can teach us: a patient-driven approach to identify molecular mechanisms involved in brain development.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 04.03.2024
Last edited 21.08.2024
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