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https://www.readbyqxmd.com/read/28220750/clinical-neuropathology-teaching-case-2-2017-polymicrogyria-in-an-adult-with-right-sided-spastic-hemiparesis
#1
Ellen Gelpi, Romana Höftberger, Arno Beer, Johannes A Hainfellner
No abstract text is available yet for this article.
February 21, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28202825/-ictal-speech-manifesting-as-sleep-talking-a-case-report
#2
Takehiro Suzuki, Yosuke Kakisaka, Yu Kitazawa, Kazutaka Jin, Shiho Sato, Masaki Iwasaki, Mayu Fujikawa, Yoshiyuki Nishio, Akitake Kanno, Nobukazu Nakasato
We present a 28-year-old female patient whose epilepsy started at the age of 19. MRI showed right perisylvian polymicrogyria. She exhibited various seizure symptoms, such as somatosensory aura involving the left leg, dyscognitive seizures, and amnesic seizures. Her mother indicated that the patient sometimes had "sleep talking", which was associated with presence of epileptic seizures of the next day. Long-term video electroencephalography (EEG) revealed that her episodes of "sleep talking" were epileptic events, specifically ictal speech, originating in the right hemisphere...
February 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#3
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
February 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28168853/prenatal-and-postnatal-presentations-of-corpus-callosum-agenesis-with-polymicrogyria-caused-by-egp5-mutation
#4
Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marlène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi-Buisson
EPG5-related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis...
February 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28130172/brain-specific-knockin-of-the-pathogenic-tubb5-e401k-allele-causes-defects-in-motor-coordination-and-prepulse-inhibition
#5
Martin W Breuss, Andi H Hansen, Lukas Landler, David A Keays
The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation...
April 14, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28114705/recurrence-of-epileptic-spasms-as-reflex-seizures-induced-by-eating-a-case-report-and-literature-review
#6
Yoshiyuki Kobayashi, Nobutsune Ishikawa, Hiroo Tani, Yuji Fujii, Masao Kobayashi
Background Eating epilepsy (EE) is a rare form of reflex epilepsy in which seizures are induced by eating. It is known that most patients with eating seizures, in fact, suffer from symptomatic temporal lobe epilepsy (TLE), whereas only a few patients with epileptic spasms induced by eating (E-ES) have been reported. Patient Description The patient was an 8-year-old girl whose magnetic resonance imaging (MRI) of the head detected dysgenesis of the corpus callosum, cerebellar hypogenesis, marked cerebral asymmetry, broad polymicrogyria, periventricular heterotopia, and closed lip-type schizencephaly...
January 23, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#7
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28059706/the-prevalence-of-malformations-of-cortical-development-in-a-pediatric-hereditary-hemorrhagic-telangiectasia-population
#8
G J Palagallo, S R McWilliams, L A Sekarski, A Sharma, M S Goyal, A J White
BACKGROUND AND PURPOSE: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS: A retrospective review of brain MRIs from 116 pediatric patients was performed...
November 10, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28018470/megalencephaly-capillary-malformation-polymicrogyria-syndrome-the-first-case-report-in-korea
#9
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
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...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27992967/role-of-fetal-mri-in-the-evaluation-of-isolated-and-non-isolated-corpus-callosum-dysgenesis-results-of-a-cross-sectional-study
#10
Lucia Manganaro, Silvia Bernardo, Corrado De Vito, Amanda Antonelli, Enrica Marchionni, Valeria Vinci, Matteo Saldari, Letizia Di Meglio, Antonella Giancotti, Evelina Silvestri, Carlo Catalano, Antonio Pizzuti
PURPOSE: To characterize isolated and non-isolated forms of Corpus Callosum Dysgenesis (CCD) at Fetal MRI and to identify early predictors of associated anomalies. METHODS: We retrospectively analyzed 104 fetuses with CCD undergoing MRI between 2006 and 2016. Corpus Callosum (CC), cavum septi pellucidi, biometry, presence of ventriculomegaly, gyration anomalies, cranio-encephalic abnormalities and body malformations were evaluated. Results of genetic tests were also recorded...
December 19, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27818366/aicardi-syndrome-epilepsy-surgery-as-a-palliative-treatment-option-for-selected-patients-and-pathological-findings
#11
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...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#12
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
#13
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...
December 2016: Epilepsia
https://www.readbyqxmd.com/read/27754416/congenital-cataracts-and-gut-dysmotility-in-a-dync1h1-dyneinopathy-patient
#14
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
#15
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
#16
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
#17
REVIEW
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
#18
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...
January 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27631729/polymicrogyria-and-myoclonic-epilepsy-in-autosomal-recessive-cutis-laxa-type-2a
#19
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
#20
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
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