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https://www.readbyqxmd.com/read/28553400/proteus-syndrome-with-neurological-manifestations-a-rare-presentation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
Ghayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, Carleton P Goold, Laura A Jansen, Suchithra Menon, Andrew E Timms, Valerio Conti, Jonathan D Biag, Carissa Olds, Evan August Boyle, Sarah Collins, Gisele Ishak, Sandra L 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 J Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O Dorschner, 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 P 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
#15
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)
https://www.readbyqxmd.com/read/27049136/mtor-pathway-inhibition-as-a-new-therapeutic-strategy-in-epilepsy-and-epileptogenesis
#16
REVIEW
Rita Citraro, Antonio Leo, Andrew Constanti, Emilio Russo, Giovambattista De Sarro
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes. Excessive activation of mTOR signaling, as a consequence of loss-of-function of genes encoding for tuberous sclerosis complex (TSC) 1 and 2, is linked to the development of cortical malformations and epilepsy. This mTOR hyperactivation is associated with different epileptogenic conditions under the term of 'mTORopathies' such as tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly and ganglioglioma...
May 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/26933590/pi3k-akt-pathway-and-brain-malformations
#17
Gavin B Rice, Nitin R Wadhwani
Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly, hemimegalencephaly, and focal cortical dysplasia.
July 2015: Pediatric neurology briefs
https://www.readbyqxmd.com/read/26651159/utility-of-diffusion-tensor-imaging-studies-linked-to-neuronavigation-and-other-modalities-in-repeat-hemispherotomy-for-intractable-epilepsy
#18
Erin N Kiehna, Elysa Widjaja, Stephanie Holowka, O Carter Snead, James Drake, Shelly K Weiss, Ayako Ochi, Eric M Thompson, Cristina Go, Hiroshi Otsubo, Elizabeth J Donner, James T Rutka
OBJECT Hemispherectomy for unilateral, medically refractory epilepsy is associated with excellent long-term seizure control. However, for patients with recurrent seizures following disconnection, workup and investigation can be challenging, and surgical options may be limited. Few studies have examined the role of repeat hemispherotomy in these patients. The authors hypothesized that residual fiber connections between the hemispheres could be the underlying cause of recurrent epilepsy in these patients. Diffusion tensor imaging (DTI) was used to test this hypothesis, and to target residual connections at reoperation using neuronavigation...
April 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/26647903/surgical-management-of-medically-refractory-epilepsy-in-patients-with-polymicrogyria
#19
Doris D Wang, Renatta Knox, John D Rolston, Dario J Englot, A James Barkovich, Tarik Tihan, Kurtis I Auguste, Robert C Knowlton, Susannah B Cornes, Edward F Chang
OBJECTIVE: Polymicrogyria (PMG) is a malformation of cortical development characterized by formation of an excessive number of small gyri. Sixty percent to 85% of patients with PMG have epilepsy that is refractory to medication, but surgical options are usually limited. We characterize a cohort of patient with polymicrogyria who underwent epilepsy surgery and document seizure outcomes. METHODS: A retrospective study of all patients with PMG who underwent epilepsy surgery (focal seizure foci resection and/or hemispherectomy) at our center was performed by review of all clinical data related to their treatment...
January 2016: Epilepsia
https://www.readbyqxmd.com/read/26633882/mouse-models-of-human-pik3ca-related-brain-overgrowth-have-acutely-treatable-epilepsy
#20
Achira Roy, Jonathan Skibo, Franck Kalume, Jing Ni, Sherri Rankin, Yiling Lu, William B Dobyns, Gordon B Mills, Jean J Zhao, Suzanne J Baker, Kathleen J Millen
Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide spectrum of brain and body overgrowth. In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy. We generated mouse models expressing the most common activating Pik3ca mutations (H1047R and E545K) in developing neural progenitors...
2015: ELife
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