scholarly journals Malformations of Cortical Development: From Postnatal to Fetal Imaging

2016 ◽  
Vol 43 (5) ◽  
pp. 611-618 ◽  
Author(s):  
Tally Lerman-Sagie ◽  
Zvi Leibovitz
Keyword(s):  
Cortical Development ◽  
Imaging Features ◽  
Malformations Of Cortical Development ◽  
Fetal Imaging ◽  
Cortical Organization ◽  
Neurological Morbidity ◽  
Nodular Heterotopia ◽  
Cortical Dysplasias ◽  
Prenatal Imaging ◽  
Imaging Signs

AbstractAbnormal fetal corticogenesis results in malformations of cortical development (MCD). Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria and focal cortical dysplasias. MCD comprises various congenital brain disorders, caused by different genetic, infectious, or vascular etiologies and is associated with significant neurological morbidity. Although MCD are rarely diagnosed prenatally, both dedicated multiplanar neurosonography and magnetic resonance imaging enable good demonstration of fetal cortical development. The imaging signs of fetal MCD are: delayed or absent cerebral sulcation; premature abnormal sulci; thin and irregular hemispheric parenchyma; wide abnormal overdeveloped gyri; wide opening of isolated sulci; nodular bulging into the lateral ventricles; cortical clefts; intraparenchymal echogenic nodules; and cortical thickening. The postnatal and prenatal imaging features of four main malformations of cortical development—lissencephaly, cobblestone malformations, periventricular nodular heterotopia, and polymicrogyria—are described.

Epileptogenic malformations of cortical development: when evolution goes awry

2014 ◽  
Vol 21 (3) ◽  
pp. 103-108
Author(s):  
Birutė Tumienė ◽  
Algirdas Utkus
Keyword(s):  
Cortical Development ◽  
Clinical Manifestations ◽  
Clinical Feature ◽  
Malformations Of Cortical Development ◽  
Absolute Size ◽  
Cortical Organization ◽  
Additional Information ◽  
Development Processes ◽  
Genetic Technologies ◽  
Near Future

Background. Since the time of its origin in a mammalian ancestor, perhaps 250 million years ago, the neocortex has undergone expansion in both relative and absolute size. The complexity of the brain in vertebrates is proportional to the elaboration of the mechanisms controlling cortical development. Malformations of cortical development (MCD) are classified into three major groups that recapitulate the main developmental steps: cell proliferation, neuronal migration, or postmigrational cortical organization and connectivity. The main clinical manifestations of MCDs are epilepsy and / or intellectual disability. Seizures are the most common clinical feature, at least 75% of patients with MCDs will have epilepsy. Recent advances in neuroimaging techniques and revolutionary achievements in molecular biology led to an explosive increase in our knowledge of cerebral cortex development and malformations of cortical development (MCD). So far, more than 100 genes were associated with one or more types of MCD. However, the genetic cause still remains unidentified in the majority of cases. Conclusions. Investigations of human malformations of cortical development as of a model of impaired neurodevelopment gave a lot of important insights into normal and abnormal brain development processes and practical benefits to MCD patients and their families. Recent achievements in genetic technologies led to a real explosion in such knowledge and are expected to yield even more additional information in the near future.

scholarly journals Focal cortical dysplasias

2017 ◽  
Author(s):  
Marilisa M Guerreiro ◽  
Ana Carolina Coan
Keyword(s):  
Surgical Treatment ◽  
Clinical Presentation ◽  
Cortical Development ◽  
Neuropsychological Impairment ◽  
Drug Resistant ◽  
Malformations Of Cortical Development ◽  
Histological Subtypes ◽  
Seizure Onset ◽  
Significant Percentage ◽  
Cortical Dysplasias

Focal cortical dysplasias (FCDs) are localized malformations of cortical development associated with refractory epilepsies. Seizure onset most commonly occurs in the first decade of life and the clinical presentation varies according to the localization of the lesion. Neuropsychological impairment often accompanies the high seizure burden. Drug- resistant seizures can be controlled in a significant percentage of patients if adequate surgical treatment is possible. Although some clinical, electroencephalographic and neuroimaging characteristics of the FCDs are well understood, the differences among the histological subtypes of FCDs remains to be better determined.

scholarly journals Malformations of Cortical Development

2017 ◽  
Vol 11 (4) ◽  
pp. 308-313 ◽  
Author(s):  
Vincenzo D’Addario ◽  
Mariangela Cialdella ◽  
Pasquale Capuano
Keyword(s):  
Obstet Gynecol ◽  
Late Onset ◽  
Current Knowledge ◽  
Cortical Development ◽  
Malformations Of Cortical Development ◽  
Neurodevelopmental Delay ◽  
Cortical Organization ◽  
Wide Range ◽  
Common Causes ◽  
Abnormal Cell Proliferation

ABSTRACT Cerebral cortical malformations are common causes of neurodevelopmental delay and epilepsy and include a wide range of antenatal neurogenesis disorders. Abnormal cell proliferation leads to microcephaly or megalencephaly, incomplete neuronal migration results in heterotopia and lissencephaly, neuronal overmigration manifests as cobblestone malformations, and anomalous postmigrational cortical organization is responsible for polymicrogyria (PMG) and schizencephaly. Although corticogenesis occurs early, these rare pathologies are associated with late onset during pregnancy, which does not allow their early prenatal recognition. This review aims to give an update of current knowledge of these insidious cerebral cortical disorders. How to cite this article Capuano P, Cialdella M, D’Addario V. Malformations of Cortical Development. Donald School J Ultrasound Obstet Gynecol 2017;11(4):308-313.

scholarly journals Malformations of cortical development and epilepsy

2008 ◽  
Vol 10 (1) ◽  
pp. 47-62 ◽  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Development ◽  
Epileptic Seizures ◽  
Basic Structure ◽  
Cortical Plate ◽  
Imaging Features ◽  
Malformations Of Cortical Development ◽  
Subcortical Band Heterotopia ◽  
Clinical Consequences ◽  
Magnetic Resonance Imaging Mri

Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented.

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

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

Children ◽  
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.

scholarly journals Teaching NeuroImages: Brain MRI and FDG-PET in malformations of cortical development and hippocampal hypoplasia

Neurology ◽  
2011 ◽  
Vol 77 (8) ◽  
pp. e47-e47 ◽  
Author(s):  
D. Renard ◽  
G. Castelnovo ◽  
D. Daubin ◽  
L. Collombier ◽  
C. Briere ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Brain Mri ◽  
Cortical Development ◽  
Malformations Of Cortical Development
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