Hongsheng Liu (editor) - Pediatric Neuroimaging: Cases and Illustrations

Brain malformation is a common finding in the neuroimaging evaluation of children who presented with developmental delay, mental retardation, or epilepsy.

There are various manifestations of the central nervous system, which are related to the involved developmental stages in utero. The earlier the occurrence, the more serious. These malformations may occur solitary or in combination. For example, the development of corpus callosum malformation, once occurred, needs to pay attention to the combined gray matter heterotopia and/or other abnormalities.

In recent years, significant progress in neuroimaging techniques, development of genetic sequencing, allow us to advance the correct definition/classification of congenital brain abnormalities and has resulted in a better understanding of their pathogenesis.

Neuroimaging is very important to diagnose congenital brain malformations, and MRI is the ideal method. Conventional MRI sequences allow detailed evaluation of the brain anatomy. Advanced MRI sequences provide microstructural and functional information that can reveal pathogenesis. For example, DTI provides detailed qualitative and quantitative information about the microstructure and organization of the white matter tracts. So MRI may allow the definition of subphenotypes within a group of congenital brain malformations and establish correlations between the neuroimaging phenotype and genotype.