Definitions and classification of malformations of cortical development: practical guidelines

Area of Science:

• Neuroscience
• Radiology
• Genetics

Background:

• Malformations of cortical development (MCDs) are rare neurological disorders.
• MCDs often present with developmental delay, cerebral palsy, or seizures.
• Neurological outcomes vary widely based on malformation characteristics and genetic factors.

Purpose of the Study:

• To establish standardized terminology and classification for MCDs in neuroradiological interpretation.
• To provide clear neuroimaging recommendations for diagnosing MCDs.
• To enhance diagnostic accuracy and imaging interpretation of MCDs globally.

Main Methods:

• Systematic literature reviews conducted by international experts in pediatric neuroradiology.
• Consensus meetings involving geneticists, pediatric neurologists, and pathologists.
• Formulation of evidence-based neuroimaging recommendations.

Main Results:

• A standardized classification system for MCDs has been developed.
• Key neuroimaging features of various MCDs are detailed.
• Practical recommendations are provided for radiologists and neurologists.

Conclusions:

• Standardized terminology and classification are crucial for accurate MCD diagnosis.
• The consensus statement aids both expert and non-expert clinicians.
• Improved diagnostic and imaging interpretation worldwide is the ultimate goal.