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Developmental Medicine and Child... Jan 2016
Topics: Brain; Fetus; Humans; Polymicrogyria
PubMed: 26251133
DOI: 10.1111/dmcn.12861 -
Congenital Anomalies Nov 2022Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection,...
Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation. Polymicrogyria appears to be a more frequent finding, although its actual incidence is unknown. Future studies are needed to determine the causal association.
Topics: Pregnancy; Female; Humans; Adolescent; Polymicrogyria; Cytomegalovirus Infections; Pregnancy Complications, Infectious; Brain Stem; Hemorrhage
PubMed: 35941838
DOI: 10.1111/cga.12488 -
Neurology Jun 1999A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the...
A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.
Topics: Adult; Brain; Cerebral Cortex; Child; Electroencephalography; Epilepsy; Female; Functional Laterality; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Pedigree
PubMed: 10371547
DOI: 10.1212/wnl.52.9.1910 -
Annals of Neurology Jul 2018
Topics: Humans; Mutation; NAV1.3 Voltage-Gated Sodium Channel; Polymicrogyria; Sodium Channels; Spasms, Infantile
PubMed: 29740860
DOI: 10.1002/ana.25256 -
Human Genome Variation 2020Variants of , which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex...
Variants of , which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of , which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of -related neurodevelopmental disorders.
PubMed: 33062288
DOI: 10.1038/s41439-020-00116-8 -
Neurology May 2022
Topics: Abnormalities, Multiple; Cerebral Cortex; Drug Resistant Epilepsy; Dysarthria; Humans; Intellectual Disability; Magnetic Resonance Imaging; Malformations of Cortical Development; Polymicrogyria
PubMed: 35379755
DOI: 10.1212/WNL.0000000000200665 -
American Journal of Medical Genetics.... Oct 2015Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial...
Mowat-Wilson syndrome (MWS, OMIM# 235730) is a multiple congenital anomaly disorder characterized by intellectual disability, seizures, microcephaly, and distinct facial features. Additional findings include structural brain abnormalities, eye defects, congenital heart defects, Hirschsprung disease (HSCR), and genitourinary anomalies. It is caused by de novo heterozygous mutations or deletions of the ZEB2 gene on chromosome 2q21-q23. We report here on a 10-month-old boy with typical features of MWS who presented with the novel finding of polymicrogyria on brain magnetic resonance imaging. We also review the current literature regarding central nervous system anomalies in MWS.
Topics: Abnormalities, Multiple; Chromosomes, Human, Pair 2; Facies; Gene Expression; Heterozygote; Hirschsprung Disease; Homeodomain Proteins; Humans; Infant; Intellectual Disability; Magnetic Resonance Imaging; Male; Microcephaly; Mutation; Polymicrogyria; Repressor Proteins; Zinc Finger E-box Binding Homeobox 2
PubMed: 26012591
DOI: 10.1002/ajmg.a.37171 -
Neurobiology of Disease May 2010Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the... (Review)
Review
Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations. NMDs only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular heterotopia, cause neurological and cognitive impairment that vary from severe to mild deficits. They have been associated with abnormalities of the DCX, FLN1A, and ARFGEF2 genes. Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration. Localized polymicrogyria has been associated with anatomo-specific deficits, including disorders of language and higher cognition. Polymicrogyria is genetically heterogeneous and only in a small minority of patients a definite genetic cause has been identified. Mutations of the GPR56 and SRPX2 genes have been related to isolated polymicrogyria. Focal migration abnormalities associated with abnormal cell types, such as focal cortical dysplasia, are highly epileptogenic and variably influence the functioning of the affected cortex. The functional consequences of abnormal neuronal migration are still poorly understood. Conservation of function in the malformed cortex, its atypical representation, and relocation outside the malformed area are all possible. Localization of function based on anatomic landmarks may not be reliable.
Topics: Cell Movement; Cerebral Cortex; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development, Group II; Mutation; Neurons; Reelin Protein
PubMed: 19245832
DOI: 10.1016/j.nbd.2009.02.008 -
Journal of Pediatric Genetics Mar 2022Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 ( )...
Polymicrogyria (PMG) has environmental or genetic etiologies. We report a 8-year-old boy with diffuse PMG and two novel adhesion G protein-coupled receptor G1 ( ) G protein-coupled receptor 56 ( ) mutations. The proband has intellectual disability, spastic quadriparesis, and intractable epilepsy without antenatal or perinatal insults. Brain magnetic resonance imaging revealed PMG involving fronto-polar, parietal and occipital lobes with decreasing antero-posterior gradient, and a thinned-out brain stem. Targeted exome sequencing identified two novel compound heterozygote mutations (c.C209T and c.1010dupT), and each parent carries one of these mutations. Subsequent pregnancy was terminated because the fetus had the same mutations. The detected mutations expanded the genetic etiology of PMG and helped the family to avoid another child with this devastating condition.
PubMed: 35186395
DOI: 10.1055/s-0040-1714716 -
Korean Journal of Pediatrics Nov 2016Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and...
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.
PubMed: 28018470
DOI: 10.3345/kjp.2016.59.11.S152