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Malformations of Cortical Development

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Pediatric Neuroradiology

Abstract

Malformations of cortical development (MCD) encompass a large and heterogeneous group of structural brain abnormalities that result from disturbances of the cortical neurogenesis, the orderly and finely orchestrated process of generation and maturation of the cerebral cortex (Barkovich et al., Neuropediatrics 27:59–63, 1996). The etiology of MCD includes genetic, infectious, metabolic, and even vascular conditions (Raybaud and Widjaja, Neuroimaging Clin N Am 21:483–543, 2011; Barkovich et al., Brain 135:1348–1369, 2012, Cold Spring Harb Perspect Med 5:a022392, 2015; Oegema et al., Nat Rev Neurol 16:618–635, 2020).

Here, a basic review of the cortical structure and current theories of normal cortical development will be followed by a discussion of the main entities, focusing on their characteristic neuroimaging findings based on the framework of the 2012 MCD classification by Barkovich et al. (Barkovich et al., Brain 135:1348–1369, 2012) updated by a recent consensus paper published by the European Network on Brain Malformations (Neuro-MIG) (Severino et al., Brain 143:2874–2894, 2020).

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Abbreviations

ASD:

Autism spectrum disorder

BRRS:

Bannayan–Riley–Ruvalcaba syndrome

CFEOM:

Congenital fibrosis of the extraocular muscles

CGE:

Caudal ganglionic eminence

CMV:

Cytomegalovirus

CNS:

Central nervous system

CR:

Cajal-Retzius

DNET:

Dysembryoplastic neuroepithelial tumors

EEG:

Electroencephalography

FCD:

Focal cortical dysplasia

FCMD:

Fukuyama congenital muscular disease

HMEG:

Hemimegalencephaly

ILEA:

International League against Epilepsy

IPC:

Intermediate progenitor cell

LEATS:

low-grade epilepsy-associated tumours

LGE:

Lateral ganglionic eminence

MAP:

Microtubule-associated protein

MCAP:

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCD:

Malformation of cortical development

MCPH:

MicroCephaly primary hereditary

MDDG:

Muscular dystrophies-dystroglycanopathies

MDS:

Miller-Dieker syndrome

MEB:

Muscle-eye-brain disease

MEG:

Megalencephaly

MGE:

Medial ganglionic eminence

MLIS:

Microlissencephaly

MOGHE:

Mild malformation of cortical development with oligodendroglial hyperplasia

MOPD:

Microcephalic osteodysplastic primordial dwarfism

MPPH:

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

mTOR:

Mechanistic target of rapamycin

NF1:

Neurofibromatosis type 1

NSC:

Neural stem cells

OFC:

Occipito-frontal circumference

PGM:

Pial limiting membrane

PHTS:

PTEN-hamartoma tumor syndrome

PMG:

Polymicrogyria

PROS:

PIK3CA-related overgrowth syndromes

PVNH:

Periventricular nodular heterotopia

RGC:

Radial glial cells

SBH:

Subcortical band heterotopia

SD:

Standard deviation

SVZ:

Subventricular zone

SWI:

Susceptibility-weighted imaging

TSC:

Tuberous sclerosis complex

VZ:

Ventricular zone

WWS:

Walker-Warburg syndrome

XLAG:

X-linked lissencephaly with abnormal genitalia

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Authors and Affiliations

  1. Diagnostic Neuroradiology Unit, Imaging Department, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal

    Ana Filipa Geraldo

  2. IRCCS Istituto Giannina Gaslini Children’s Hospital, Genoa, Italy

    Andrea Rossi

  3. Genoa, Italy

    Mariasavina Severino

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  1. Ana Filipa Geraldo
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  2. Andrea Rossi
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  3. Mariasavina Severino
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Correspondence to Ana Filipa Geraldo .

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  1. Department of Neuroradiology, G Gaslini Children's Hospital, Genoa, Italy

    Andrea Rossi

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Geraldo, A.F., Rossi, A., Severino, M. (2021). Malformations of Cortical Development. In: Rossi, A. (eds) Pediatric Neuroradiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-46258-4_6-1

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