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https://www.readbyqxmd.com/read/27818366/aicardi-syndrome-epilepsy-surgery-as-a-palliative-treatment-option-for-selected-patients-and-pathological-findings
#1
Irina Podkorytova, Ajay Gupta, Elaine Wyllie, Ahsan Moosa, William Bingaman, Richard Prayson, Elia M Pestana Knight
The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#2
REVIEW
Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27778326/surgical-treatment-of-polymicrogyria-related-epilepsy
#3
Massimo Cossu, Veronica Pelliccia, Francesca Gozzo, Giuseppe Casaceli, Stefano Francione, Lino Nobili, Roberto Mai, Laura Castana, Ivana Sartori, Francesco Cardinale, Giorgio Lo Russo, Laura Tassi
OBJECTIVE: The role of resective surgery in the treatment of polymicrogyria (PMG)-related focal epilepsy is uncertain. Our aim was to retrospectively evaluate the seizure outcome in a consecutive series of patients with PMG-related epilepsy who received, or did not receive, surgical treatment, and to outline the clinical characteristics of patients who underwent surgery. METHODS: We evaluated 64 patients with epilepsy associated with magnetic resonance imaging (MRI)-documented PMG...
October 25, 2016: Epilepsia
https://www.readbyqxmd.com/read/27754416/congenital-cataracts-and-gut-dysmotility-in-a-dync1h1-dyneinopathy-patient
#4
Rose Gelineau-Morel, Marshall Lukacs, K Nicole Weaver, Robert B Hufnagel, Donald L Gilbert, Rolf W Stottmann
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport...
October 14, 2016: Genes
https://www.readbyqxmd.com/read/27751653/recurrent-de-novo-bicd2-mutation-associated-with-arthrogryposis-multiplex-congenita-and-bilateral-perisylvian-polymicrogyria
#5
Gianina Ravenscroft, Nataliya Di Donato, Gabriele Hahn, Mark R Davis, Paul D Craven, Gemma Poke, Katherine R Neas, Teresa M Neuhann, William B Dobyns, Nigel G Laing
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements...
November 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27672235/second-trimester-sonographic-diagnosis-of-polymicrogyria
#6
Dimitra Kappou, Chrysanthi Chlapoutaki, Ioannis Papastefanou, Georgia Theodorou, Dimitrios Kassanos, Athena P Souka
No abstract text is available yet for this article.
October 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27670206/malformations-of-cortical-development-from-postnatal-to-fetal-imaging
#7
Tally Lerman-Sagie, Zvi Leibovitz
Abnormal 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...
September 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27638326/seizures-and-electroencephalography-findings-in-61-patients-with-fetal-alcohol-spectrum-disorders
#8
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27631729/polymicrogyria-and-myoclonic-epilepsy-in-autosomal-recessive-cutis-laxa-type-2a
#9
Rony Cohen, Ayelet Halevy, Sharon Aharoni, Dror Kraus, Osnat Konen, Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Rachel Straussberg
Cutis laxa syndromes are rare inherited disorders of skin and connective tissue metabolism associated with variable systemic involvement. The main clinical manifestation is loose, wrinkled, redundant, inelastic skin, hypotonia, typical facies including short nose and down-slanting palpebral fissures, and varying degrees of developmental delay. The aim of this report is to describe two siblings diagnosed with a moderate form of ATP6V0A2-related cutis laxa with polymicrogyria (cobblestone-like brain dysgenesis)...
October 2016: Neurogenetics
https://www.readbyqxmd.com/read/27630923/cortical-clefts-and-cortical-bumps-a-continuous-spectrum
#10
Asthik Biswas, Farha Furruqh, Suresh Thirunavukarasu, Ravichandran Vivekandan
Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly...
July 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27625275/bilateral-perisylvian-polymicrogyria-an-interesting-presentation-of-malformation-of-cortical-development-in-an-adult
#11
Deepak Menon, Sweta Swaika, Ramsekhar Menon, Bejoy Thomas, Ashalatha Radhakrishnan
No abstract text is available yet for this article.
September 2016: Neurology India
https://www.readbyqxmd.com/read/27625015/the-role-of-diffusion-weighted-imaging-in-the-evaluation-of-the-whole-brain-in-isolated-unilateral-polymicrogyria
#12
Sureyya Burcu Görkem, Selim Doganay, Kazim Gumus, Ayse Bayram, Sefer Kumandas, Abdulhakim Coskun
The aim is to evaluate normal-appearing brain regions in isolated unilateral polymicrogyria patients and compare them with controls by using diffusion-weighted imaging and apparent diffusion coefficient. The diffusion-weighted images (b = 0-1000 s/mm(2)) of 10 pediatric patients (7 boys, 3 girls; mean age = 5.8 ± 4.3 years) with isolated unilateral polymicrogyria and age-sex matched 10 control patients were assessed retrospectively. There was a significant increase in apparent diffusion coefficient values of white matter underlying polymicrogyria, uninvolved white matter, deep gray matter (thalami, lentiform nuclei, caudate nuclei) and corpus callosum in polymicrogyria patients compared to control group (P < ...
September 12, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27453818/successful-hemispherotomy-for-a-patient-with-intractable-epilepsy-secondary-to-bilateral-congenital-brain-malformation-with-lateralized-pyramidal-tract-of-diffusion-tensor-image-tractography
#13
Yuri Nagai, Ayataka Fujimoto, Tohru Okanishi, Hironao Motoi, Sotaro Kanai, Takuya Yokota, Hideo Enoki, Mitsuyo Nishimura, Takamichi Yamamoto
PURPOSE: To perform an epilepsy surgery on a patient with drug resistant epilepsy secondary to bilateral brain malformation. The patient was a 2-year 9-month-old boy who had congenital bilateral multiple abnormalities. He developed a complex partial seizure at 9 months old. Based on the presurgical evaluations, he underwent a right hemispherotomy. RESULTS: Brain MRI revealed congenital bilateral polymicrogyria, right schizencephaly, and corpus callosum agenesis...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27406708/the-pathology-of-incipient-polymicrogyria
#14
Phedias Diamandis, David Chitayat, Ants Toi, S Blaser, Patrick Shannon
OBJECTIVE: To characterise the early tissue changes of post encephaloclastic polymicrogyria in the human fetus. METHODS: We identified and reviewed the clinical histories and autopsy pathology of post ischemic fetal cerebral cortical injury at less than 30weeks gestational age (GA). The histology of local cortical abnormalities was examined with neuronal, glial, microglial and vascular immunohistochemical markers. RESULTS: We identified eight cases ranging from 18 to 29weeks GA: 5 cases show full thickness cortical infarcts and 3 show periSylvian post-ischemic necrosis of the cerebral cortex...
July 9, 2016: Brain & Development
https://www.readbyqxmd.com/read/27381655/megalencephaly-polymicrogyria-and-ribbon-like-band-heterotopia-a-new-cortical-malformation
#15
Yu Kobayashi, Shinichi Magara, Kenichi Okazaki, Takao Komatsubara, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato, Jun Tohyama
Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. The heterotopias exhibited inhomogeneous signals with undulatory mixtures of gray and white matter, resembling ribbon-like heterotopia, with a predominance in the temporal to occipital regions...
July 2, 2016: Brain & Development
https://www.readbyqxmd.com/read/27325888/human-usp18-deficiency-underlies-type-1-interferonopathy-leading-to-severe-pseudo-torch-syndrome
#16
Marije E C Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D Speer, Zhi Li, Leontine van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H Lequin, Johan M Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W W Brouwer, Wilfred F J Van IJcken, Marta Martin-Fernandez, Irenaeus de Coo, Jeroen Dudink, Femke A T de Vries, Aida Bertoli Avella, Marco Prinz, Yanick J Crow, Frans W Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M S Mancini
Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families...
June 27, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27312216/prenatal-diagnosis-of-chudley-mccullough-syndrome
#17
Teresa Chapman, Francisco A Perez, Gisele E Ishak, Dan Doherty
Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings...
September 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27292112/biallelic-mutations-of-vac14-in-pediatric-onset-neurological-disease
#18
Guy M Lenk, Krystyna Szymanska, Grazyna Debska-Vielhaber, Malgorzata Rydzanicz, Anna Walczak, Monika Bekiesinska-Figatowska, Stefan Vielhaber, Kerstin Hallmann, Piotr Stawinski, Sonja Buehring, David A Hsu, Wolfram S Kunz, Miriam H Meisler, Rafal Ploski
In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden onset of a progressive neurological disorder and regression of developmental milestones. Both children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibited striatal abnormalities on MRI...
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27216985/megalencephaly-capillary-malformation-polymicrogyria-a-review-and-complex-pediatric-case-report
#19
Ashlee R Loughan, Murphy Harrell, Robert Perna, Aislyn Allen, Brian Suddarth
Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing...
May 23, 2016: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/27212206/tmem5-associated-dystroglycanopathy-presenting-with-cmd-and-mild-limb-girdle-muscle-involvement
#20
Guja Astrea, Ilaria Pezzini, Ester Picillo, Rosa Pasquariello, Francesca Moro, Manuela Ergoli, Paola D'Ambrosio, Adele D'Amico, Luisa Politano, Filippo Maria Santorelli
The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement...
July 2016: Neuromuscular Disorders: NMD
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