Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development

• Published in: Pediatric radiology Vol. 50; no. 13; pp. 1974 - 1987
• Main Authors: Guimaraes, Carolina V. A., Dahmoush, Hisham M.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2020; Springer Nature B.V
• Subjects: Abnormalities; Congenital diseases; Constellations; Cysts; Defects; Fetal Imaging; Fetuses; Genes; Genetic screening; Genotype & phenotype; Imaging; Magnetic resonance imaging; Medicine; Medicine & Public Health; Molecular biology; Muscular dystrophy; Mutation; Neuroradiology; Nuclear Medicine; Oncology; Pediatrics; Phenotypes; Radiology; Ultrasound; Cerebral cortex; PI3K/AKT/mTOR pathway; Magnetic resonance imaging; Ciliopathies; Alpha (α)-dystroglycanopathies; Fetus; Tubulinopathies; Malformation of cortical development
• ISSN: 0301-0449; 1432-1998
• DOI: 10.1007/s00247-020-04674-5

The increase in understanding of molecular biology and recent advances in genetic testing have caused rapid growth in knowledge of genetic causes of malformations of cortical development. Imaging diagnosis of malformations of cortical development can be made prenatally in a large subset of fetuses based on the presence of specific deviations from the normal pattern of development, characteristic imaging features, and associated non-central-nervous-system (CNS) abnormalities. In this review the authors discuss the role of four key cell molecules/molecular pathways in corticogenesis that are frequently implicated in complex prenatally diagnosed malformations of cortical development. The authors also list the currently described genes causing defects in these molecules/molecular pathways when mutated, and the constellation of imaging findings resultant of such defects.