Cortical-malformations: Causes & Reasons

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Possible Causes for cortical malformations

Lissencephaly

There is currently no support group for cortical malformations in the UK. [cafamily.org.uk]

Four of the five patients had congenital microcephaly, and all had dysgenesis of the corpus callosum and cerebellar hypoplasia, and variable cortical malformations, including [ncbi.nlm.nih.gov]

malformations. [ncbi.nlm.nih.gov]

Polymicrogyria

Polymicrogyria (PMG) is a malformation of cortical organization. [moh-it.pure.elsevier.com]

Polymicrogyria (PMG) is one of the most common malformations of cortical development. [ncbi.nlm.nih.gov]

Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway variants can provide a clue to the genetic basis of the cortical malformation. [ncbi.nlm.nih.gov]

Subcortical Band Heterotopia

Malformations of cortical development include a wide range of brain developmental anomalies that commonly lead to developmental delay and epilepsy. [ncbi.nlm.nih.gov]

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. [ghr.nlm.nih.gov]

As is the case with many cortical malformations there is some confusion as to the terminology. [radiopaedia.org]

Baraitser-Winter Syndrome

The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. [doi.org]

Septo-Optic Dysplasia

The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. [ncbi.nlm.nih.gov]

Abstract Article abstract The authors describe three children with septo-optic dysplasia (SOD)-plus: SOD and an associated malformation of cortical development. [n.neurology.org]

In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). [ncbi.nlm.nih.gov]

Hemimegalencephaly

These cases are discussed in terms of the current concepts of cortical malformations. [ncbi.nlm.nih.gov]

malformation comprising abnormal hypertrophic cells. [ncbi.nlm.nih.gov]

We describe two children with complex cortical malformations as well as the typical intracranial manifestations of tuberous sclerosis complex. [ncbi.nlm.nih.gov]

Epilepsy with Continuous Spike-and-Slow-Waves during Sleep

Lesions are usually antenatal cortical malformations (polymicrogyria) or ante/perinatal cortical destructive lesions, but may also be purely subcortical, the association between [neupsykey.com]

Unilateral or diffuse cortical atrophy, porencephaly, malformations of cortical development, and mainly polymicrogyria (18%). [epilepsy.com]

Figure 2: MRI Brain showing right side cortical malformation (polymicrogyria) in a child with left hemiparesis, epilepsy and learning difficulties who developed CSWS 3.2 years [acnr.co.uk]

Familial Porencephaly

Burneo JC, Bebin M, Kuzniecky RI, Knowlton RC ( 2004 ) Cortical reorganization in malformations of cortical development: a magnetoencephalographic study. [cambridge.org]

Schizencephaly is a rare cortical malformation that manifests as a grey matter lined cleft extending from the ependyma to the pia mater. [radiopaedia.org]

Sometimes full-thickness defects without polymicrogyria bordering the defect but with associated cortical malformation distant from the defect are classified as schizencephaly [medlink.com]

Autosomal Recessive Primary Microcephaly Type 10

malformations or primordial dwarfism. [scipers.com]

Key anomalies include cortical developmental malformations and a peculiar distribution of pathologic calcifications. [pubfacts.com]

malformations. [worldwidescience.org]

Cystitis

In most (not all) affected individuals, cortical and cerebellar malformations are present and are associated with severe developmental delays, seizures, and neurologic regression [ncbi.nlm.nih.gov]

Hypoglycemia

Recognizing the association of hypoglycemia with PI3K-AKT-mTOR pathway variants can provide a clue to the genetic basis of the cortical malformation. [ncbi.nlm.nih.gov]

Patients with megalencephaly and a cortical malformation may be considered at risk of hypoglycaemia and monitored accordingly, at least until a PI3K-AKT-mTOR pathway variant [ncbi.nlm.nih.gov]

Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia [ncbi.nlm.nih.gov]

Aicardi's Syndrome

Almost invariably found in girls (X-linked dominant) Other major features include: partial or complete callosal agenesis, cortical malformations (mostly microgyria,) periventricular [ajnr.org]

Major and supporting features include: Major Features Cortical malformations (mostly polymicrogyria); Periventricular and subcortical heterotopia; Cysts around third cerebral [aicardisyndromefoundation.org]

malformations Periventricular and subcortical heterotopias Cysts in the area of the third ventricle Choroidal plexus papilloma Optic nerve head hypoplasia and/or coloboma [healio.com]

Epilepsy

Epilepsy risk in limbic encephalitis, mechanisms of Alzheimer's-related epilepsy and the genetic basis of cortical malformations have been detailed. [ncbi.nlm.nih.gov]

malformations, and dysfunction of glial cells. [doi.org]

[…] uncovered important and clinically relevant mechanisms of generalized and localized seizures, among which are inherited abnormalities of ion channels, hippocampal sclerosis, cortical [doi.org]

Familial Infantile Myoclonic Epilepsy

malformation and ion channel mutations, such as SCN1A mutations. [emedicine.medscape.com]

Pre-existing hippocampal abnormality Hypoxia Cortical malformations  hippocampal edema after acute febrile seizure AED treatment  is it necessary? [opleid.info]

Progressive spasticity is frequently seen in older children and adolescents with Dravet syndrome, often associated with the development of crouch gait. [6] Causes may include cortical [emedicine.medscape.com]

Aprosencephaly and Cerebellar Dysgenesis

Malformations of cortical development: diagnostic accuracy of fetal MR imaging. Radiology 2012;263(3):843-855. Squier W, Jansen A. [jaocr.org]

Congenital pseudoporencephaly Cortical dysplasia Cortical dysplasia with hemimegalencephaly Cystic malformation of posterior fossa Defect of telencephalic division Derodidymis [emedcodes.com]

Developmental delay, cortical malformations, seizures, polycystic kidneys, or cardiac anomalies. [sites.google.com]

Abdominal Epilepsy

malformation. [ncbi.nlm.nih.gov]

[…] of cortical development 1349 postinfectious and posttraumatic pathologies associated with epilepsy 1359 Chapter 145 Pathology of epileptogenic neoplasms 1373 Chapter 146 [books.google.com]

To the best of our knowledge, this is the first report of malformation of cortical development causing abdominal myoclonus. [ncbi.nlm.nih.gov]

Angiocentric Glioma

OBJECTIVE: To describe the clinicopathologic features of 5 angiocentric gliomas and to evaluate for coexistent malformation of cortical development/cortical dysplasia. [ncbi.nlm.nih.gov]

[…] architecture (malformation of cortical development [MCD] or focal cortical dysplasia)." (8) The purpose of this study is to review the clinicopathologic features of 5 angiocentric [thefreelibrary.com]

Evidence of adjacent malformation of cortical development/focal cortical dysplasia has been reported in a subset of angiocentric gliomas, suggesting a developmental basis [path.upmc.edu]

Warburg Micro Syndrome 3

malformations, polymicrogyria and hypoplasia of the corpus callosum. [rarediseases.org]

[…] magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues including the brain and can reveal characteristic changes such as cortical [rarediseases.org]

Obesity

BACKGROUND: Bilateral posterior periventricular nodular heterotopia PNH is a complex malformation of cortical development with imaging features distinguishing it from classic [ncbi.nlm.nih.gov]

Benign Prostatic Hyperplasia

malformation and ion channel mutations, such as SCN1A mutations. [emedicine.medscape.com]

Autoimmune Encephalopathy

Epilepsy risk in limbic encephalitis, mechanisms of Alzheimer’s-related epilepsy and the genetic basis of cortical malformations have been detailed. [dx.doi.org]

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

malformations, autosomal recessive Microcephaly with epilepsy and diabetes syndrome Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR [qlinics.com]

malformations, autosomal recessive type 2 WDR62 Microcephaly with epilepsy and diabetes syndrome IER3IP1 Microcephaly with or without chorioretinopathy, Lymphedema, or Mental [centogene.com]

[…] dysplasia, complex, with other brain malformations, Fibrosis of extraocular muscles, congenital TWIST1 Craniosynostosis, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome [genda.com.ar]

Cystocele

Temporal Lobe Epilepsy

The neocortical lesions in the temporal lobe ipsilateral to MTS may not necessarily be cortical malformations but may simply be indicative of mesial TLE. [scielo.br]

[…] cavernous malformation AVM It is essential to review the whole scan carefully as there is a high (5-20%) incidence of dual pathology, especially in cases of cortical dysplasia [radiopaedia.org]

[…] dysplasia: 5-10% vascular malformations: 5% trauma infection congenital temporal pole encephalocele (rare) 4 MRI is the modality of choice for structural imaging of the temporal [radiopaedia.org]

Delirium

The IL-1beta system in epilepsy-associated malformations of cortical development. Neurobiol Dis 2006;24:128–143. [doi.org]

[…] of cortical development Neurobiol Dis 2006 24128143. 27. [doi.org]

Crossref, Medline, Google Scholar 27 Ravizza T Boer K Redeker S Spliet WGM van Rijen PC Troost D Vezzani A Aronica E The IL-1beta system in epilepsy-associated malformations [doi.org]

Hypercholesterolemia

Cantrell Developemental anomalies of the skeleton Defects of growth of tubular bone and/or spine Thanatophoric dysplasia Diastrophic dysplasia Abnormalities of density of cortical [atlases.muni.cz]

[…] diaphyseal structure or metaphyseal modeling Osteogenesis imperfecta Limb malformations Terminal transverse limb defects Radial ray defects Finger anomalies Club foot Constriction [atlases.muni.cz]

Amish Lethal Microcephaly

cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. [mendelian.co]

SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A タイトル Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical [genome.jp]

"Genomic variants and variations in malformations of cortical development". Pediatric Clinics of North America. 62 (3): 571–85. doi : 10.1016/j.pcl.2015.03.002. [en.wikipedia.org]

Cutis Laxa

malformation. [ncbi.nlm.nih.gov]

The classification and description of malformations of cortical development is difficult and still evolving. [4] We agree with the authors that the cortical abnormalities [n.neurology.org]

In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Cortical malformation. [ncbi.nlm.nih.gov]

Epilepsia Partialis Continua

The patient presented clinically with epilepsia partialis continua, supposed to originate from the perirolandic area harboring the cortical malformation. [ncbi.nlm.nih.gov]

Malformations of cortical development (MCD) with polymicrogyria and schizencephaly are due to abnormal cortical organization and usually manifest by intractable epilepsy and [ncbi.nlm.nih.gov]

malformations, and neoplasia. [pediatricneurosciences.com]

Benign Familial Infantile Epilepsy Type 4

Malformations Chapter 7: Exploring the Epilepsiome I: Genetics of Age-Dependent Epileptic Encephalopathies Chapter 8: Exploring the Epilepsiome II: Approaching the Complex [connect.springerpub.com]

malformation and ion channel mutations, such as SCN1A mutations. [emedicine.medscape.com]

Neurodevelopmental Perspective Chapter 4: Metabolic and Pharmacologic Consequences of Seizures Chapter 5: Neuropathologic Substrates of Epilepsy Chapter 6: Epileptogenic Cerebral Cortical [connect.springerpub.com]