Congenital Brain Malformations: An Integrated Diagnostic Approach.
Semin Pediatr Neurol
; 42: 100973, 2022 07.
Article
em En
| MEDLINE
| ID: mdl-35868725
ABSTRACT
Congenital brain malformations are abnormalities present at birth that can result from developmental disruptions at various embryonic or fetal stages. The clinical presentation is nonspecific and can include developmental delay, hypotonia, and/or epilepsy. An informed combination of imaging and genetic testing enables early and accurate diagnosis and management planning. In this article, we provide a streamlined approach to radiologic phenotyping and genetic evaluation of brain malformations. We will review the clinical workflow for brain imaging and genetic testing with up-to-date ontologies and literature references. The organization of this article introduces a streamlined approach for imaging-based etiologic classification into malformative, destructive, and migrational abnormalities. Specific radiologic ontologies are then discussed in detail, with correlation of key neuroimaging features to embryology and molecular pathogenesis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Malformações do Sistema Nervoso
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Semin Pediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2022
Tipo de documento:
Article