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hemimegalencephaly

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https://www.readbyqxmd.com/read/28969385/mutations-of-akt3-are-associated-with-a-wide-spectrum-of-developmental-disorders-including-extreme-megalencephaly
#1
Diana Alcantara, Andrew E Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, Fiona Stewart, Sarju G Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A Bernstein, Aaron M Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez-Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M Graham, Robert Hevner, William B Dobyns, Mark O'Driscoll, Ghayda M Mirzaa
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and molecular spectrum associated with mutations of this critical gene is limited, with no clear genotype-phenotype correlations...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28924292/hemimegalencephaly-with-intractable-epilepsy-a-case-report
#2
Prem Chand, Muhammad Faraz Raghib, Muhammad Sohail Salat, Fazal Manzoor Arain
Isolated Hemimegalencephaly (iHME) is a rare form of congenital malformation of cortical development.It is characterized by enlargement of all or part of one cerebral hemisphere. It typically presents with intractable seizures, mental retardation, developmental delay, contralateral hemiparesis and hemianopia. The patient was a five and half month's old baby girl who presented first with focal seizures at 10th day of life. No other physical or behavioral abnormality was noted. However, Initial EEG showed excessive sharp EEG transients more over the right hemisphere, repeated EEG showed spikes, polyspikes, sharps and slow wave discharges predominately over right hemisphere...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28904588/a-case-of-epilepsia-partialis-continua-due-to-linear-nevus-syndrome-with-hemimegalencephaly
#3
Leema Pauline Cornelius, Vivekasaravanan Raju, Ravi A Lalapet
Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC.
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28864461/somatic-uniparental-disomy-of-chromosome-16p-in-hemimegalencephaly
#4
Nicole G Griffin, Kenneth D Cronin, Nicole M Walley, Christine M Hulette, Gerald A Grant, Mohamad A Mikati, Heather G LaBreche, Catherine W Rehder, Andrew S Allen, Peter B Crino, Erin L Heinzen
Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have no identified genetic etiology. Here, we screened two HME patients to identify disease-causing somatic variants. DNA from leukocytes, buccal swabs, and surgically resected brain tissue from two HME patients were screened for somatic variants using genome-wide genotyping arrays or sequencing of the protein-coding regions of the genome...
September 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28799142/what-to-do-in-failed-hemispherotomy-our-clinical-series-and-review-of-the-literature
#5
REVIEW
Andrea Bartoli, Y El Hassani, B Jenny, S Momjian, C M Korff, M Seeck, S Vulliemoz, K Schaller
Hemispherotomy is an established surgical technique to cure or palliate selected, mostly young patients suffering from refractory epilepsy. However, a few patients continue to have seizures despite the surgical hemispherical disconnection. We present a case series of patients who underwent redo hemispherotomy after a first unsuccessful hemispherical disconnection and provide a roadmap for subsequent workup and treatment. The institutional database of epilepsy surgery was reviewed. Twenty-four patients who underwent hemispherotomies for refractory epilepsy were identified between 2007 and 2016...
August 10, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28553400/proteus-syndrome-with-neurological-manifestations-a-rare-presentation
#6
Pallavi Sachdeva, Priyanka Minocha, Rohit Jain, Sadasivan Sitaraman, Manisha Goyal
Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28427592/pathologic-active-mtor-mutation-in-brain-malformation-with-intractable-epilepsy-leads-to-cell-autonomous-migration-delay
#7
Sae Hanai, Sayuri Sukigara, Hongmei Dai, Tomoo Owa, Shin-Ichi Horike, Taisuke Otsuki, Takashi Saito, Eiji Nakagawa, Naoki Ikegaya, Takanobu Kaido, Noriko Sato, Akio Takahashi, Kenji Sugai, Yuko Saito, Masayuki Sasaki, Mikio Hoshino, Yu-Ichi Goto, Schuichi Koizumi, Masayuki Itoh
The activation of phosphatidylinositol 3-kinase-AKTs-mammalian target of rapamycin cell signaling pathway leads to cell overgrowth and abnormal migration and results in various types of cortical malformations, such as hemimegalencephaly (HME), focal cortical dysplasia, and tuberous sclerosis complex. However, the pathomechanism underlying abnormal cell migration remains unknown. With the use of fetal mouse brain, we performed causative gene analysis of the resected brain tissues from a patient with HME and investigated the pathogenesis...
May 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28424599/electrophysiological-sequelae-of-hemispherotomy-in-ipsilateral-human-cortex
#8
Ammar H Hawasli, Ravi Chacko, Nicholas P Szrama, David T Bundy, Mrinal Pahwa, Chester K Yarbrough, Brian J Dlouhy, David D Limbrick, Dennis L Barbour, Matthew D Smyth, Eric C Leuthardt
Objectives: Hemispheric disconnection has been used as a treatment of medically refractory epilepsy and evolved from anatomic hemispherectomy to functional hemispherectomies to hemispherotomies. The hemispherotomy procedure involves disconnection of an entire hemisphere with limited tissue resection and is reserved for medically-refractory epilepsy due to diffuse hemispheric disease. Although it is thought to be effective by preventing seizures from spreading to the contralateral hemisphere, the electrophysiological effects of a hemispherotomy on the ipsilateral hemisphere remain poorly defined...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28377884/evolution-of-epilepsy-in-hemimegalencephaly-from-infancy-to-adulthood-case-report-and-review-of-the-literature
#9
Kristin M Ikeda, Seyed M Mirsattari
Hemimegalencephaly (HME) is a rare disorder of cortical development with overgrowth of one cerebral hemisphere. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug-resistant epilepsy is often treated with a hemispherectomy. We review the literature on HME natural history and report a 26-year-old man with HME who did not undergo hemispherectomy in childhood with recurrent focal convulsive or non-convulsive status epilepticus. Few patients with HME have been followed into adulthood. Reported adult cases have milder epilepsy or underwent hemispherectomy in childhood...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28348960/delayed-diagnosis-of-shunt-overdrainage-following-functional-hemispherotomy-and-ventriculoperitoneal-shunt-placement-in-a-hemimegalencephaly-patient
#10
Yasunori Nagahama, David Peters, Sho Kumonda, Adam Vesole, Charuta Joshi, Brian J Dlouhy, Hiroto Kawasaki
Shunt overdrainage represents a nebulous condition of variable clinical and imaging presentations, where the diagnosis is primarily clinical. The condition presents a diagnostic challenge particularly in patients with cognitive impairment and developmental delays. Here we present a 3-year-old boy with drug-resistant focal onset seizures due to hemimegalencephaly who previously underwent functional hemispherotomy followed by ventriculoperitoneal shunt placement for postoperative hydrocephalus. The subsequent clinical course was complicated by delayed diagnosis of shunt overdrainage in the absence of significant image findings...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28195914/ictal-pet-in-ohtahara-syndrome-with-hemimegalencephaly
#11
Shambo Guha Roy, Madhavi Tripathi, Manjari Tripathi, Bhargavi Ramanujam, Abhinav Singhal, Chandrasekhar Bal
Ohtahara syndrome is one of the causes of infantile epilepsies, which presents with refractory seizures and characteristic EEG changes. It is often associated with structural anomalies in the brain. We report a case of 5-month-old girl with Ohtahara syndrome with hemimegalencephaly who presented with refractory seizures and ictal FDG PET/CT helped in localizing the seizure focus.
May 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27796549/-endovascular-embolic-hemispherectomy-a-strategy-for-the-initial-management-of-catastrophic-holohemispheric-epilepsy-in-the-neonate
#12
Chima Oluigbo, Monica S Pearl, Tammy N Tsuchida, Taeun Chang, Cheng-Ying Ho, William D Gaillard
PURPOSE: Conflicting challenges abound in the management of the newborn with intractable epilepsy related to hemimegalencephaly. Early hemispherectomy to stop seizures and prevent deleterious consequences to future neurocognitive development must be weighed against the technical and anesthetic challenges of performing major hemispheric surgery in the neonate. METHODS: We hereby present our experience with two neonates with hemimegalencephaly and intractable seizures who were managed using a strategy of initial minimally invasive embolization of the cerebral blood supply to the involved hemisphere...
March 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#13
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/27614668/hyaline-protoplasmic-astrocytopathy-%C3%A2-a-clinicopathologic-study
#14
Richard A Prayson
OBJECTIVES: Hyaline protoplasmic astrocytopathy is a rare condition marked by the accumulation of various proteins in the cytoplasm of protoplasmic astrocytes. METHODS: This study retrospectively reviews the clinicopathologic features of 14 patients (nine females; mean age, 9.1 years) with hyaline protoplasmic astrocytopathy. RESULTS: Patients had chronic seizures (mean duration, 101.1 months); mean age at seizure onset was 6.9 months. Three patients had Aicardi syndrome, and one patient had tuberous sclerosis...
October 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27590993/telencephalic-flexure-and-malformations-of-the-lateral-cerebral-sylvian-fissure
#15
REVIEW
Harvey B Sarnat, Laura Flores-Sarnat
After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression...
October 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27375761/hemispherectomy-procedure-in-proteus-syndrome
#16
PrastiyaIndra Gunawan, Lusiana Lusiana, Darto Saharso
Objective Proteus syndrome is a rare overgrowth disorder including bone, soft tissue, and skin. Central nervous system manifestations were reported in about 40% of the patients including hemimegalencephaly and the resultant hemicranial hyperplasia, convulsions and mental deficiency. We report a 1-month-old male baby referred to Pediatric Neurology Clinic Soetomo Hospital, Surabaya, Indonesia in 2014 presented recurrent seizures since birth with asymmetric dysmorphic face with the right side larger than the left, subcutaneous mass and linear nevi...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27323939/mtor-signaling-pathway-genes-in-focal-epilepsies
#17
REVIEW
S Baulac
Focal epilepsies, where seizures initiate in spatially limited networks, are the most frequent epilepsy type, accounting for two-thirds of patients. Focal epilepsies have long been thought to be acquired disorders; several focal epilepsy syndromes are now proven to be (genetically heterogeneous) monogenic disorders. While earlier genetic studies have demonstrated a strong contribution of ion channel and neurotransmitter receptor genes, or synaptic secreted protein genes, later work has revealed a new class of genes encoding components of the mechanistic target of rapamycin (mTOR) signal transduction pathway...
2016: Progress in Brain Research
https://www.readbyqxmd.com/read/27296534/-hemispherectomy-in-the-treatment-of-pediatric-symptomatic-epilepsy-of-children
#18
A G Melikyan, Yu V Kushel', A N Vorob'ev, N A Arkhipova, V S Sorokin, N V Lemeneva, I A Savin, I N Pronin, A B Kozlova, O A Grinenko, S B Buklina, I A Nagorskaya
INTRODUCTION AND PURPOSE: Hemispherectomy is a recognized option in the treatment of symptomatic forms of intractable focal epilepsy in patients with developmental brain malformations and some acquired lesions of one the hemispheres. The prognosis for an outcome of the technique is important in terms of the indications for surgical treatment. MATERIAL AND METHODS: We described the hemispherectomy technique and its variants and analyzed our own experience of surgery in 40 children...
2016: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/27159400/association-of-mtor-mutations-with-developmental-brain-disorders-including-megalencephaly-focal-cortical-dysplasia-and-pigmentary-mosaicism
#19
Ghayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, Carleton Goold, Laura A Jansen, Suchithra Menon, Andrew E Timms, Valerio Conti, Jonathan D Biag, Carissa Adams, Evan August Boyle, Sarah Collins, Gisele Ishak, Sandra Poliachik, Katta M Girisha, Kit San Yeung, Brian Hon Yin Chung, Elisa Rahikkala, Sonya A Gunter, Sharon S McDaniel, Colleen Forsyth Macmurdo, Jonathan A Bernstein, Beth Martin, Rebecca Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael Doerschner, Shalini Jhangiani, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, James R Lupski, Jay Shendure, Russell P Saneto, Edward J Novotny, Christopher J Wilson, William R Sellers, Michael Morrissey, Robert F Hevner, Jeffrey G Ojemann, Renzo Guerrini, Leon O Murphy, Wendy Winckler, William B Dobyns
IMPORTANCE: Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE: To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly. DESIGN, SETTING, AND PARTICIPANTS: Patients with FCD, hemimegalencephaly, or megalencephaly (mean age, 11...
July 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27152083/hemimegalencephaly-with-polymicrogyria-a-case-report
#20
Iulian Raus, Adela Mihaela Vintan, Roxana Elena Coroiu
Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and developmental delay who presented to the pediatric neurology room with an episode of disinhibited behavior in family environment...
2016: Clujul Medical (1957)
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