Definitions and classification of malformations of cortical development: practical guidelines

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.

Download Full-text

Corrigendum to: Definitions and classification of malformations of cortical development: practical guidelines

Brain ◽

10.1093/brain/awaa298 ◽

2020 ◽

Keyword(s):

Cortical Development ◽

Malformations Of Cortical Development ◽

Practical Guidelines

Download Full-text

Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations

Journal of Child Neurology ◽

10.1177/0883073816680734 ◽

2016 ◽

Vol 32 (3) ◽

pp. 271-285 ◽

Cited By ~ 3

Author(s):

Nancy K. Rollins ◽

Timothy N. Booth ◽

Maria H. Chahrour

Keyword(s):

Diffusion Tensor Imaging ◽

Genetic Testing ◽

Diffusion Tensor ◽

Cortical Development ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Malformations Of Cortical Development ◽

Callosal Agenesis ◽

Institutional Review ◽

Brain Malformations

To describe pontine axonal anomalies across diverse brain malformations. Institutional review board–approved review of magnetic resonance imaging (MRI) and genetic testing of 31 children with brain malformations and abnormal pons by diffusion tensor imaging. Anomalous dorsal pontocerebellar tracts were seen in mid-hindbrain anomalies and in diffuse malformations of cortical development including lissencephaly, gyral disorganization with dysplastic basal ganglia, presumed congenital fibrosis of extraocular muscles type 3, and in callosal agenesis without malformations of cortical development. Heterotopic and hypoplastic corticospinal tracts were seen in callosal agenesis and in focal malformations of cortical development. There were no patterns by chromosomal microarray analysis in the non-lissencephalic brains. In lissencephaly, there was no relationship between severity, deletion size, or appearance of the pontocerebellar tract. Pontine axonal anomalies may relate to defects in precerebellar neuronal migration, chemotactic signaling of the pontine neurons, and/or corticospinal tract pathfinding and collateral branching not detectable with routine genetic testing.

Download Full-text

Some Thoughts on the Classification of Malformations of Cortical Development

Archives of Pathology & Laboratory Medicine ◽

10.5858/2006-130-1101-stotco ◽

2006 ◽

Vol 130 (8) ◽

pp. 1101-1102

Author(s):

Richard A. Prayson

Keyword(s):

Cortical Development ◽

Malformations Of Cortical Development

Download Full-text

Radiologic classification of malformations of cortical development

Current Opinion in Neurology ◽

10.1097/00019052-200104000-00002 ◽

2001 ◽

Vol 14 (2) ◽

pp. 145-149 ◽

Cited By ~ 43

Author(s):

A. James Barkovich ◽

Ruben I. Kuzniecky ◽

William B. Dobyns

Keyword(s):

Cortical Development ◽

Malformations Of Cortical Development

Download Full-text

DNA methylation-based classification of malformations of cortical development in the human brain

Acta Neuropathologica ◽

10.1007/s00401-021-02386-0 ◽

2021 ◽

Author(s):

Samir Jabari ◽

Katja Kobow ◽

Tom Pieper ◽

Till Hartlieb ◽

Manfred Kudernatsch ◽

...

Keyword(s):

Dna Methylation ◽

Deep Learning ◽

Human Brain ◽

Epilepsy Surgery ◽

Cortical Development ◽

Diagnostic Process ◽

Malformations Of Cortical Development ◽

Disease Definition ◽

Ffpe Samples

AbstractMalformations of cortical development (MCD) comprise a broad spectrum of structural brain lesions frequently associated with epilepsy. Disease definition and diagnosis remain challenging and are often prone to arbitrary judgment. Molecular classification of histopathological entities may help rationalize the diagnostic process. We present a retrospective, multi-center analysis of genome-wide DNA methylation from human brain specimens obtained from epilepsy surgery using EPIC 850 K BeadChip arrays. A total of 308 samples were included in the study. In the reference cohort, 239 formalin-fixed and paraffin-embedded (FFPE) tissue samples were histopathologically classified as MCD, including 12 major subtype pathologies. They were compared to 15 FFPE samples from surgical non-MCD cortices and 11 FFPE samples from post-mortem non-epilepsy controls. We applied three different statistical approaches to decipher the DNA methylation pattern of histopathological MCD entities, i.e., pairwise comparison, machine learning, and deep learning algorithms. Our deep learning model, which represented a shallow neuronal network, achieved the highest level of accuracy. A test cohort of 43 independent surgical samples from different epilepsy centers was used to test the precision of our DNA methylation-based MCD classifier. All samples from the test cohort were accurately assigned to their disease classes by the algorithm. These data demonstrate DNA methylation-based MCD classification suitability across major histopathological entities amenable to epilepsy surgery and age groups and will help establish an integrated diagnostic classification scheme for epilepsy-associated MCD.

Download Full-text

Faculty Opinions recommendation of Different structures involved during ictal and interictal epileptic activity in malformations of cortical development: an EEG-fMRI study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1119157.575316 ◽

2008 ◽

Author(s):

Yehezkel Ben-Ari

Keyword(s):

Cortical Development ◽

Epileptic Activity ◽

Malformations Of Cortical Development ◽

Fmri Study

Download Full-text

Quantitative 1H-MRS reveals metabolic difference between subcategories of malformations of cortical development

Neuroradiology ◽

10.1007/s00234-021-02694-y ◽

2021 ◽

Author(s):

Qiaoyue Tan ◽

Wenyu Liu ◽

Xinyue Wan ◽

Weina Wang ◽

Xiaorui Su ◽

...

Keyword(s):

Cortical Development ◽

Malformations Of Cortical Development ◽

1H Mrs ◽

Metabolic Difference

Download Full-text

Malformations of Cortical Development, Cognitive Involvementand Epilepsy: A Single Institution Experience in 19 Young Patients

Children ◽

10.3390/children8080637 ◽

2021 ◽

Vol 8 (8) ◽

pp. 637

Author(s):

Valeria Venti ◽

Maria Chiara Consentino ◽

Pierluigi Smilari ◽

Filippo Greco ◽

Claudia Francesca Oliva ◽

...

Keyword(s):

Clinical Features ◽

Cortical Development ◽

Young Patients ◽

Cortical Dysplasia ◽

Drug Resistant ◽

Malformations Of Cortical Development ◽

Group Iii ◽

Group I ◽

Cognitive Involvement ◽

Group Ii

Background. Malformations of cortical development (MCD) include a wide range of congenital disorders mostly causing severe cognitive dysfunction and epilepsy. Objective: to report on clinical features including cognitive involvement, epileptic seizures with response to antiseizure medications, comorbidities in young patients affected by MCD and followed in a single tertiary hospital. Patients and methods: A retrospective review of the medical records and magnetic resonance images (MRI) of 19 young patients with an age ranging between eight days and fifteen years affected by MCD and admitted to Pediatrics Department University of Catania, Italy from October 2009 and October 2020 were selected. Patients were distinguished in three groups following the Barcovich et al. 2012 classification for MCD: 4 (21%) in Group I; 8 (42%) in Group II; and, and 7 (37%) in Group III. Clinical features and MRI of the patients including cognitive involvement, epilepsy type and response to drugs treatment were analyzed. Results: In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. In Group II, three patients showed neuronal hetero-topias and five had pachygyria-lissencephaly: DD/ID was severe in four, moderate in two, and absent in two; the type of seizure was focal (FS) in five, focal to bilateral tonic-clonic (FBTCs) in two, infantile spasms (IS) in one, and drug resistant was found in three. In Group III, six showed polymicrogyria and one schizencephaly: DD/ID was found severe in five, moderate in two, and the type of seizure was focal (FS) in five, FBTCS in two, and drug resistance was found in three.

Download Full-text