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https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#1
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28416781/incidence-risk-factors-and-outcomes-of-seizures-occurring-after-craniotomy-for-primary-brain-tumor-resection
#2
Hasan M Al-Dorzi, Abdullah A Alruwaita, Bothaina O Marae, Bushra S Alraddadi, Hani M Tamim, Ahmad Ferayan, Yaseen M Arabi
OBJECTIVE: To determine the incidence, risk factors and outcomes of early post-craniotomy seizures. METHODS: This was a retrospective cohort study of all patients who underwent craniotomy for primary brain tumor resection (2002-2011) and admitted postoperatively to the intensive care unit. The patients were divided into 2 groups depending on the occurrence of seizures within 7 days. RESULTS: One-hundred-ninety-three patients were studied: 35...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28413671/paraneoplastic-limbic-encephalitis-in-a-patient-with-extensive-disease-small-cell-lung-cancer
#3
Sebastian Ochenduszko, Bartosz Wilk, Joanna Dabrowska, Izabela Herman-Sucharska, Anna Dubis, Miroslawa Puskulluoglu
Paraneoplastic limbic encephalitis (PLE) is a rare disorder infrequently accompanying malignancy, coexisting in ~50% of the cases with small-cell lung cancer (SCLC). The pathomechanism of PLE is considered to be immune-mediated, with production of specific anti-Hu antibodies and activation of T-cells directed against onconeural antigens present on both tumor cells and neurons. We herein report the case of a 50-year-old male patient who, prior to being diagnosed with SCLC, presented with typical symptoms of PLE (seizures, subacute cognitive dysfunction with severe memory impairment, anxiety and hallucinations)...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28413543/primary-intracranial-choriocarcinoma-presenting-as-a-ring-enhancing-lesion-a-case-report-and-review-of-literature
#4
Mayur Sharma, Vernon Velho, Rachana Binayake, Chandranath Tiwari
We report here a rare case of primary intracranial choriocarcinoma without evidence of tumor elsewhere, presenting as a ring-enhancing lesion managed successfully in our institute (Grant Medical College and Sir J. J. Group of Hospitals, Mumbai, Maharashtra, India). A 22-year-old, right-handed housewife presented with complaints of headache, vomiting, generalized tonic-clonic seizures, and right upper limb weakness of short duration. On neurological examination, the patient was conscious, cooperative, well-oriented in time, place, and person...
January 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28412926/acute-symptomatic-seizures-in-geriatric-patients-with-multiple-risk-factors-a-diagnostic-challenge
#5
Ralf Landwehr, Robert Liszka
Acute symptomatic seizures and epileptic disorders are frequent health problems of elderly patients. An early and reliable distinction of the seizure etiology is important to ensure adequate treatment, and to prevent unwarranted diagnostic and therapeutic procedures. The most common causes of acute symptomatic seizures - acute cerebrovascular disorders, metabolic disorders, traumatic brain injury, meningo-encephalitis, cerebral tumors, and withdrawal of alcohol and other central agents - are well-defined and seem to permit straightforward diagnostic and therapeutic strategies...
April 13, 2017: Current Aging Science
https://www.readbyqxmd.com/read/28410084/clinical-and-electroencephalographic-characteristics-of-infantile-onset-epilepsies-caused-by-genetic-mutations
#6
Yun Jung Hur, Sookyong Koh, John Millichap, Srishti Nangia, Lawrence J Jennings, Douglas R Nordli
OBJECTIVES: To determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy. STUDY DESIGN: We enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities...
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28377246/awake-surgery-for-brain-vascular-malformations-and-moyamoya-disease
#7
Rami James N Aoun, Mithun G Sattur, Chandan Krishna, Amen Gupta, Matthew E Welz, Allan D Nanney, Antoun H Koht, Matthew C Tate, Katherine H Noe, Joseph I Sirven, Barrett J Anderies, Patrick B Bolton, Terry L Trentman, Richard S Zimmerman, Kristin R Swanson, Bernard R Bendok
OBJECTIVE: While a significant amount of experience has accumulated for awake procedures for brain tumor, epilepsy and carotid surgery, its utility for intracranial neurovascular indications remains largely undefined. Awake surgery, for select neurovascular cases, offers the advantage of precise brain mapping and robust neurological monitoring during surgery for lesions in eloquent areas, avoidance of potential hemodynamic instability, and possible faster recovery. Additionally, it opens the window for perilesional epileptogenic tissue resection with potentially less risk for iatrogenic injury...
April 1, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28367383/multiple-calcifying-pseudoneoplasms-of-the-neuraxis
#8
Leonardo B Brasiliense, Dennis W Dickson, Raouf E Nakhleh, Rabih G Tawk, Robert Wharen
Calcifying pseudoneoplasms of the neuraxis (CAPNONs) are extremely rare tumors that are frequently misdiagnosed and overlooked by clinicians. To date, only 40 intracranial lesions have been reported, and in all instances, they were found as a solitary calcified mass. To our knowledge, the current case report is the first to illustrate the development of multiple intraaxial CAPNONs and shed more light on the origin of these lesions. We discuss the case of a 67-year-old woman who presented with a six-year history of recurrent seizures...
February 21, 2017: Curēus
https://www.readbyqxmd.com/read/28362915/the-influence-of-perioperative-seizure-prophylaxis-on-seizure-rate-and-hospital-quality-metrics-following-glioma-resection
#9
Michael C Dewan, Gabrielle A White-Dzuro, Philip R Brinson, Scott L Zuckerman, Peter J Morone, Reid C Thompson, John C Wellons, Lola B Chambless
BACKGROUND: Antiepileptic drugs (AEDs) are frequently administered prophylactically to mitigate seizures following craniotomy for brain tumor resection. However, conflicting evidence exists regarding the efficacy of AEDs, and their influence on surgery-related outcomes is limited. OBJECTIVE: To evaluate the influence of perioperative AEDs on postoperative seizure rate and hospital-reported quality metrics. METHODS: A retrospective cohort study was conducted, incorporating all adult patients who underwent craniotomy for glioma resection at our institution between 1999 and 2014...
April 1, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28343918/primary-lung-metastasis-of-glioblastoma-multiforme-with-epidural-spinal-metastasis-case-report
#10
Haydn A Hoffman, Charles H Li, Richard G Everson, Jennifer L Strunck, William H Yong, Daniel C Lu
Extracranial metastasis of glioblastoma multiforme (GBM) is rare, but has recently been reported with increasing frequency. GBM metastases typically present after a biopsy or resection of the primary tumor. An otherwise healthy 54year-old woman presented with recurring pleural effusions originally believed to be from a primary lung malignancy. The patient subsequently experienced a generalized tonic clonic seizure and a right temporal brain mass was discovered. The patient later developed weakness and radiculopathy, and an extramedullary extradural mass spreading from C7 to T6 was discovered...
March 23, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#11
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28338647/is-primary-prevention-with-antiepileptic-drugs-effective-in-brain-tumors-or-brain-metastases
#12
Diego Lobos-Urbina, Lucas Kittsteiner-Manubens, José Peña
Patients with brain tumors –primary or metastatic- have an increased risk of presenting seizures during the course of their disease. So, prophylactic antiepileptic drugs have been proposed. However, the effects of this intervention are not yet clear. To answer this question, we searched in Epistemonikos database, which is maintained by screening multiple databases. We identified 12 systematic reviews including 80 studies overall. Twelve corresponded to randomized trials, but only two answered the question of interest...
March 21, 2017: Medwave
https://www.readbyqxmd.com/read/28330942/primary-angiitis-of-the-central-nervous-system-magnetic-resonance-imaging-spectrum-of-parenchymal-meningeal-and-vascular-lesions-at-baseline
#13
Grégoire Boulouis, Hubert de Boysson, Mathieu Zuber, Loïc Guillevin, Eric Meary, Vincent Costalat, Christian Pagnoux, Olivier Naggara
BACKGROUND AND PURPOSE: Primary angiitis of the central nervous system remains challenging. To report an overview and pictorial review of brain magnetic resonance imaging findings in adult primary angiitis of the central nervous system and to determine the distribution of parenchymal, meningeal, and vascular lesions in a large multicentric cohort. METHODS: Adult patients from the French COVAC cohort (Cohort of Patients With Primary Vasculitis of the Central Nervous System), with biopsy or angiographically proven primary angiitis of the central nervous system and brain magnetic resonance imaging available at the time of diagnosis were included...
March 22, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28327947/factors-associated-with-pre-and-postoperative-seizures-in-1033-patients-undergoing-supratentorial-meningioma-resection
#14
William C Chen, Stephen T Magill, Dario J Englot, Joe D Baal, Sagar Wagle, Jonathan W Rick, Michael W McDermott
BACKGROUND: Risk factors for pre- and postoperative seizures in supratentorial meningiomas are understudied compared to other brain tumors. OBJECTIVE: To report seizure frequency and identify factors associated with pre- and postoperative seizures in a large single-center population study of patients undergoing resection of supratentorial meningioma. METHODS: Retrospective chart review of 1033 subjects undergoing resection of supratentorial meningioma at the author's institution (1991-2014)...
March 15, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28327900/awake-craniotomy-vs-craniotomy-under-general-anesthesia-for-perirolandic-gliomas-evaluating-perioperative-complications-and-extent-of-resection
#15
Chikezie I Eseonu, Jordina Rincon-Torroella, Karim ReFaey, Young M Lee, Jasvinder Nangiana, Tito Vivas-Buitrago, Alfredo Quiñones-Hinojosa
BACKGROUND: A craniotomy with direct cortical/subcortical stimulation either awake or under general anesthesia (GA) present 2 approaches for removing eloquent region tumors. With a reported higher prevalence of intraoperative seizures occurring during awake resections of perirolandic lesions, oftentimes, surgery under GA is chosen for these lesions. OBJECTIVE: To evaluate a single-surgeon's experience with awake craniotomies (AC) vs surgery under GA for resecting perirolandic, eloquent, motor-region gliomas...
March 15, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28320152/electrographic-patterns-in-patients-with-posterior-reversible-encephalopathy-syndrome-and-seizures
#16
Carlos Kamiya-Matsuoka, Sudhakar Tummala
INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic encephalopathic state associated with reversible cerebral vasogenic edema. Seizures are a common clinical presentation in PRES, however its electroencephalographic and radiologic pattern correlation is limited in this subset of patients. The aim of this study is to analyze the origin of electrographic dysfunction according to the radiologic pattern in patients with PRES and seizures. METHODS: We retrospectively identified 46 cancer patients who developed PRES and seizures at The University of Texas MD Anderson Cancer Center between January 2006 and June 2012...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28315958/brain-tumor-location-influences-the-onset-of-acute-psychiatric-adverse-events-of-levetiracetam-therapy-an-observational-study
#17
Vincenzo Belcastro, Laura Rosa Pisani, Silvio Bellocchi, Paolo Casiraghi, Gaetano Gorgone, Marco Mula, Francesco Pisani
To explore possible correlations among brain lesion location, development of psychiatric symptoms and the use of antiepileptic drugs (AEDs) in a population of patients with brain tumor and epilepsy. The medical records of 283 patients with various types of brain tumor (161 M/122 F, mean age 64.9 years) were analysed retrospectively. Patients with grade III and IV glioma, previous history of epileptic seizures and/or psychiatric disorders were excluded. Psychiatric symptoms occurring after initiation of AED therapy were considered as treatment emergent psychiatric adverse events (TE-PAEs) if they fulfilled the following conditions: (1) onset within 4 weeks after the beginning of AED therapy; (2) disappearance on drug discontinuation; (3) absence of any other identified possible concurrent cause...
March 18, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28281497/management-of-brain-tumor-related-epilepsy
#18
REVIEW
Neil V Klinger, Aashit K Shah, Sandeep Mittal
Seizures are common in both primary and metastatic brain tumors, although the rate of seizures differ significantly between the different types of neoplasms. Patients with brain tumor-associated seizures need treatment with antiepileptic drugs (AEDs) to prevent recurrence, whereas strong clinical data exists to discourage routine prophylaxis in patients who have not had seizures. The newer AEDs, such as levetiracetam, lamotrigine, lacosamide, topiramate, or pregabalin, are preferable for various reasons, primarily related to the side-effect profile and limited interactions with other drugs...
2017: Neurology India
https://www.readbyqxmd.com/read/28281490/evidence-based-guidelines-for-the-management-of-epilepsy
#19
REVIEW
Sanjay P Singh, Ram Sankaraneni, Arun R Antony
Approximately 50 million people live with epilepsy worldwide. The aim of this review is to present an overview of the current evidence and management recommendations for evaluation and treatment of patients with epilepsy. Systematic literature reviews were undertaken. A review of contemporary published evidence-based guidelines (American Academy of Neurology, American Epilepsy Society, and the Indian Epilepsy Society) and published peer reviewed scientific publications was done. The guideline is addressed to all clinicians who manage epilepsy patients...
2017: Neurology India
https://www.readbyqxmd.com/read/28248859/seizure-syndrome-as-a-first-manifestation-of-solitary-tumor-like-mass-lesion-of-pacns-two-case-reports
#20
De-Sheng Zhu, Xiao-Li Yang, Hui-Hui Lv, Chen-Guang Bai, Pang-Pan Yang, Ze-Zhi Li, Yong Hao, Ying Zhang, Yang-Tai Guan
RATIONALE: Primary angiitis of the central nervous system (PACNS) is an inflammatory disease involving cerebrovascular and parenchymal, and solitary tumor-like mass lesion of PACNS (TLML-PACNS) is frequently misdiagnosed as neoplastic or other inflammatory diseases. However, seizure syndrome as a first manifestation of TLML-PACNS has rarely reported before. PATIENT CONCERNS: Here, we report 2 cases of seizure syndrome, which was the first sign that presented prior to the diagnosis of TLML-PACNS by brain biopsy...
March 2017: Medicine (Baltimore)
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