Definitions and classification of malformations of cortical development: practical guidelines

Mariasavina Severino; Ana Filipa Geraldo; Norbert Utz; Domenico Tortora; Ivana Pogledic; Wlodzimierz Klonowski; Fabio Triulzi; Filippo Arrigoni; Kshitij Mankad; Richard J Leventer; Grazia M S Mancini; James A Barkovich; Maarten H Lequin; Andrea Rossi

doi:10.1093/brain/awaa174

Definitions and classification of malformations of cortical development: practical guidelines

Brain. 2020 Oct 1;143(10):2874-2894. doi: 10.1093/brain/awaa174.

Authors

Affiliations

¹ Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
² Neuroradiology Unit, Imaging Department, Centro Hospitalar Vila Nova de Gaia/Espinho (CHVNG/E), Vila Nova de Gaia, Portugal.
³ Department of Pediatric Radiology, HELIOS Klinikum Krefeld, Germany.
⁴ Division of Neuroradiology and Musculoskeletal Radiology, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Vienna, Austria.
⁵ Nalecz Institute of Biocybernetics and Biomedical Engineering Polish Academy of Sciences, Poland.
⁶ Neuroradiology Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi Milano, Italy.
⁷ Department of Neuroimaging Lab, Scientific Institute, IRCCS E. Medea, Bosisio Parini, Italy.
⁸ Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK.
⁹ Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Melbourne, Australia.
¹⁰ Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
¹¹ Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA.
¹² Department of Neurology, University of California, San Francisco, CA, USA.
¹³ Department of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.

Abstract

Malformations of cortical development are a group of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures. The neurological outcome is extremely variable depending on the type, extent and severity of the malformation and the involved genetic pathways of brain development. Neuroimaging plays an essential role in the diagnosis of these malformations, but several issues regarding malformations of cortical development definitions and classification remain unclear. The purpose of this consensus statement is to provide standardized malformations of cortical development terminology and classification for neuroradiological pattern interpretation. A committee of international experts in paediatric neuroradiology prepared systematic literature reviews and formulated neuroimaging recommendations in collaboration with geneticists, paediatric neurologists and pathologists during consensus meetings in the context of the European Network Neuro-MIG initiative on Brain Malformations (https://www.neuro-mig.org/). Malformations of cortical development neuroimaging features and practical recommendations are provided to aid both expert and non-expert radiologists and neurologists who may encounter patients with malformations of cortical development in their practice, with the aim of improving malformations of cortical development diagnosis and imaging interpretation worldwide.

Keywords: classification; epilepsy; malformations of cortical development; neuroimaging.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cerebral Cortex / diagnostic imaging*
Consensus*
Europe
Humans
Magnetic Resonance Imaging / classification
Magnetic Resonance Imaging / standards
Malformations of Cortical Development / classification*
Malformations of Cortical Development / diagnostic imaging*
Malformations of Cortical Development / therapy
Neuroimaging / classification
Neuroimaging / standards
Practice Guidelines as Topic / standards*