Imaging of Congenital Malformations

Intracranial congenital malformations are anomalies of brain development caused by genetic and environmental influences. This article discusses common intracranial congenital malformations, presents the associated neuroimaging findings, and discusses how appropriate identification of intracranial anomalies can impact diagnosis and treatment.

Advances in neuroimaging techniques and genetic research have led to a better understanding of the pathogenesis of many congenital malformations, adding insight into their clinical relevance and the intricate relationship between critical periods of development, genetic predisposition, and environmental insults. When one malformation is discovered, a high likelihood of more malformations exists. In some instances, the intracranial anomalies will lead to the diagnosis of a particular neurologic syndrome, which may, in turn, lead to modification of a plan of care.

Knowledge of congenital malformations and their appearance on imaging sequences is essential to improve clinical outcomes and quality of life for patients.