Cortical Malformations: Causes & Reasons

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Possible Causes for Cortical Malformations

CK Syndrome

OMIM : 57 CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations [malacards.org]

Definition A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body [uniprot.org]

ORPHA:251383 Synonym(s): X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome Prevalence: Inheritance: X-linked recessive Age of onset [orpha.net]

Lissencephaly

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]

Abstract Neuronal migration disorders account for a substantial number of cortical malformations, the most severe forms being represented by lissencephalies. [ncbi.nlm.nih.gov]

Polymicrogyria

KEYWORDS: cortical malformation; graph matching; polymicrogyria; sulcal pattern [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]

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

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]

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

TOCHIGI 1, Naoki HAYASHI 1, Emi IKEBUCHI 1 1 Department of Neuropsychiatry, Teikyo University School of Medicine, Tokyo, Japan キーワード： Basedow psychosis, Malformation of cortical [webview.isho.jp]

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]

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

[…] like visual impairment by optic nerve hypoplasia, endocrine deficits due to hypothalamic and/or pituitary anomalies, and psychomental retardation by associated cortical malformation [ncbi.nlm.nih.gov]

Baraitser-Winter Syndrome

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

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]

Aprosencephaly and Cerebellar Dysgenesis

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

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

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

Acquired Epileptic Aphasia

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

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

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]

Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. [ncbi.nlm.nih.gov]

Congenital Cerebral Cyst

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]

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 Heterotopias Cysts around third ventricle Optic nerve coloboma Supporting features Microphthalmia Vertebral and rib anomalies Asymmetric cerebral hemispheres [symptoma.com]

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]

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]

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]

Miller-Dieker Syndrome

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. [ncbi.nlm.nih.gov]

Lissencephaly and SBH are cortical malformations caused by deficient neuronal migration during embryogenesis. [ncbi.nlm.nih.gov]

Lissencephaly with cerebellar hypoplasia (LCH): a heterogenous group of cortical malformations. [ncbi.nlm.nih.gov]

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]

Focal Epilepsy - Speech Disorder - Mental Retardation

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]

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

malformation), and that these can worsen over time. [5] This category includes the following epilepsy syndromes: Early myoclonic encephalopathy (EME) Early infantile epileptic [emedicine.medscape.com]

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, and vascular causes. [blogs.nejm.org]

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

Tubulinopathy

Five common cortical malformation patterns have been described in tubulinopathies: microlissencephaly agyria-pachygyria central pachygyria polymicrogyria-like cortical dysplasia [radiopaedia.org]

Malformations of cortical development (MCDs) used to be much simpler. [ncbi.nlm.nih.gov]

9 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25 Verloes A...Pilz DT 25052316 2015 10 Somatic mutations in cerebral cortical malformations [malacards.org]

Absence of Septum Pellucidum

[…] of the central nervous system malformations of cortical development abnormal cell proliferation or apoptosis abnormal brain size microcephaly with normal to simplified cortical [radiopaedia.org]

[…] organization mild malformations of cortical development (previously microdysgenesis) polymicrogyria and schizencephaly bilateral polymicrogyria syndromes schizencephaly focal [radiopaedia.org]

cortical dysplasia (Type IIa) not otherwise classified malformations secondary to inborn errors of metabolism mitochondrial and pyruvate metabolic disorders peroxisomal disorders [radiopaedia.org]

Davis-Lafer Syndrome

malformations in some patients, and variable dysmorphic facial features. [rgd.mcw.edu]

Malformations megacystis-microcolon-intestinal hypoperistalsis syndrome Megakaryoblastic Leukemia of Down Syndrome megalencephalic leukoencephalopathy with subcortical cysts [rgd.mcw.edu]

Malformations Occipital Horn Syndrome oculoauricular syndrome Oculoauriculofrontonasal syndrome Oculocerebrocutaneous Syndrome oculocerebrorenal syndrome + Oculodental Syndrome [rgd.mcw.edu]

Roy-Maroteaux-Kremp Syndrome

malformations in some patients, and variable dysmorphic facial features. [rgd.mcw.edu]

Malformations megacystis-microcolon-intestinal hypoperistalsis syndrome Megakaryoblastic Leukemia of Down Syndrome megalencephalic leukoencephalopathy with subcortical cysts [rgd.mcw.edu]

Malformations Occipital Horn Syndrome oculoauricular syndrome Oculoauriculofrontonasal syndrome Oculocerebrocutaneous Syndrome oculocerebrorenal syndrome + Oculodental Syndrome [rgd.mcw.edu]

Bilateral Polymicrogyria

Our data confirm the large variability of clinical and EEG features in patients with similar cortical malformation.", keywords = "Cortical malformation, Electrical status [moh-it.pure.elsevier.com]

malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia [orpha.net]

Polymicrogyria is one of many malformations of cortical development (see classification system for cortical malformations ), and along with grey matter heterotopias, falls [radiopaedia.org]

Subcortical Nodular Grey Matter Heterotopia

[…] system for malformations of cortical development Promoted articles (advertising) [radiopaedia.org]

Malformative-clastic lesions were found in 13 patients (12 CMV and 1 Rosolia), characterized by: supratentorial malformations in 11 cases (microcephaly, micropoligiry, cortical [docksci.com]

[…] of cortical development may be widespread 7. fMRI ( BOLD imaging ) can demonstrate activation in heterotopic nodules and these can match epileptogenic EEG discharges 8. classification [radiopaedia.org]

Bilateral Temporo-Occipital Polymicrogyria

Conclusions: BGP is a distinct syndrome of cortical malformation. [n.neurology.org]

Abstract Aim: Polymicrogyria is a developmental cortical malformation, characterized by very small and prominent curling sulci that cause irregular vision at cortical surface [scopemed.org]

Tuxhorn and Friedrich Woermann, Imaging malformations of cortical development, Malformations of the Nervous System, 10.1016/S0072-9752(07)87026-6, (477-501), (2007). [doi.org]

Complex Cortical Dysplasia with Other Brain Malformations Type 5

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 1, also known as cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation [malacards.org]

Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations 5 CDCBM5 615763 Genetic Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations [ukgtn.nhs.uk]

Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. [genecards.org]

Complex Cortical Dysplasia with other Brain Malformations Type 4

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 1, also known as cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation [malacards.org]

Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations 5 CDCBM5 615763 Genetic Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations [ukgtn.nhs.uk]

[…] with Cortical Dysplasia, Complex, with Other Brain Malformations 4 is TUBG1 (Tubulin Gamma 1). [malacards.org]

Complex Cortical Dysplasia with other Brain Malformations Type 3

MalaCards based summary : Cortical Dysplasia, Complex, with Other Brain Malformations 1, also known as cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation [malacards.org]

Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations 5 CDCBM5 615763 Genetic Test Registry Cortical Dysplasia, Complex, With Other Brain Malformations [ukgtn.nhs.uk]

Blood or DNA and reporing time is 4 to 5 weeks Cortical dysplasia complex with other brain malformations type 5 (TUBB2A) Description Cost of Cortical dysplasia complex with [dnalabsuae.com]

Complex Cortical Dysplasia with other Brain Malformations Type 2

Blood or DNA and reporing time is 4 to 5 weeks Cortical dysplasia complex with other brain malformations type 5 (TUBB2A) Description Cost of Cortical dysplasia complex with [dnalabsuae.com]

[…] with Cortical Dysplasia, Complex, with Other Brain Malformations 2 is KIF5C (Kinesin Family Member 5C). [malacards.org]

Lissencephaly (agyria, pachygyria and sub-cortical band heterotopia). 2. Cobble stone complex malformation. 3. Heterotopias. II. Malformations of cortical organization. [slideshare.net]