[Congenital brain malformations]

Area of Science:

• Neuroscience
• Developmental Biology
• Medical Imaging

Context:

• Central nervous system (CNS) malformations are prevalent human developmental disorders.
• Clinical symptoms like developmental delay, hypotonia, and epilepsy are nonspecific.
• The heterogeneity in etiology, development, and morphology complicates diagnosis and classification.

Purpose:

• To provide an overview of clinically relevant brain malformations.
• To highlight the role of neuroimaging in diagnosis and classification.
• To emphasize the importance of understanding brain development for classifying abnormalities.

Summary:

• Neuroimaging, particularly magnetic resonance imaging (MRI), is the gold standard for diagnosing and classifying brain malformations, complementing clinical data.
• Advances in neuroimaging and genetic research enhance the understanding of embryologic development and malformation pathogenesis.
• While a specific diagnosis isn't always possible, neuroimaging patterns guide genetic testing for etiologic and prognostic assignment.

Impact:

• Improved diagnostic accuracy for CNS malformations.
• Enhanced understanding of brain development and malformation mechanisms.
• Facilitation of targeted genetic testing and improved patient management and prognosis.