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https://www.readbyqxmd.com/read/27923222/pediatric-primary-diffuse-leptomeningeal-primitive-neuroectodermal-tumor-a-case-report-and-literature-review
#1
Jesna Mathew Sublett, Caitlin Davenport, Howard Eisenbrock, Shamsher Dalal, Syed A Jaffar Kazmi, Amir Kershenovich
BACKGROUND: Primary diffuse leptomeningeal primitive neuroectodermal tumor (PDL PNET) is extremely rare, with only 19 cases reported in the literature to date. We present a case of a child with rapidly progressive PDL PNET and a literature review. A 10-year-old boy presented with mood lability, hallucinations, generalized pain, enuresis, and headaches. Initial investigation failed to produce a diagnosis. The symptoms progressed to seizure, back pain, and papilledema. Imaging showed acute hydrocephalus and mild diffuse leptomeningeal enhancement without an identifiable primary lesion...
December 7, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27918961/the-promise-of-subtraction-ictal-spect-co-registered-to-mri-for-improved-seizure-localization-in-pediatric-epilepsies-affecting-factors-and-relationship-to-the-surgical-outcome
#2
Catherine Stamoulis, Nishant Verma, Himanshu Kaulas, Jonathan J Halford, Frank H Duffy, Phillip L Pearl, S Ted Treves
OBJECTIVE: Ictal SPECT is promising for accurate non-invasive localization of the epileptogenic brain tissue in focal epilepsies. However, high quality ictal scans require meticulous attention to the seizure onset. In a relatively large cohort of pediatric patients, this study investigated the impact of the timing of radiotracer injection, MRI findings and seizure characteristics on ictal SPECT localizations, and the relationship between concordance of ictal SPECT, scalp EEG and resected area with seizure freedom following epilepsy surgery...
November 30, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27916450/dramatic-response-after-functional-hemispherectomy-in-a-patient-with-epileptic-encephalopathy-carrying-a-de-novo-col4a1-mutation
#3
Naomi Hino-Fukuyo, Atsuo Kikuchi, Masaki Iwasaki, Yuko Sato, Yuki Kubota, Tomoko Kobayashi, Tojo Nakayama, Kazuhiro Haginoya, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications...
December 1, 2016: Brain & Development
https://www.readbyqxmd.com/read/27907953/management-of-the-pediatric-neurocritical-care-patient
#4
Christopher M Horvat, Haifa Mtaweh, Michael J Bell
Pediatric neurocritical care is a growing subspecialty of pediatric intensive care that focuses on the management of acute neurological diseases in children. A brief history of the field of pediatric neurocritical care is provided. Neuromonitoring strategies for children are reviewed. Management of major categories of acute childhood central neurologic diseases are reviewed, including treatment of diseases associated with intracranial hypertension, seizures and status epilepticus, stroke, central nervous system infection and inflammation, and hypoxic-ischemic injury...
December 2016: Seminars in Neurology
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#5
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27893285/recent-advances-in-subtyping-tumors-of-the-central-nervous-system-using-molecular-data
#6
Jens Schittenhelm
Primary brain tumors account for substantial morbidity and mortality. They often infiltrate the brain diffusely, continue growing, and cause adverse events, such as headaches, seizures, and neurological deficits. The classification of primary brain tumors, based for decades on histology, has been fundamentally changed by the World Health Organization in 2016 by incorporation of molecular data. Areas covered: Literature from glioblastomas, high- and low-grade astrocytic, oligodendroglial, glioneuronal and ependymal tumors from the last five years were reviewed...
November 28, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27889023/supratentorial-tumors-in-pediatric-patients
#7
REVIEW
Carlos Zamora, Thierry A G M Huisman, Izlem Izbudak
The breadth of tumors that can arise in the supratentorial brain in children is extensive. With the exception of those that result in seizures and the highly malignant histologies, supratentorial tumors may come to medical attention later compared with infratentorial tumors, as they are less commonly associated with ventricular obstruction. This article presents an overview of the neuroimaging characteristics of these entities, with particular attention to relevant features that may aid in narrowing the differential diagnosis, including correlation with demographics and clinical presentation...
February 2017: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/27888743/plasmapheresis-for-refractory-status-epilepticus-part-ii-a-scoping-systematic-review-of-the-pediatric-literature
#8
REVIEW
F A Zeiler, M Matuszczak, J Teitelbaum, C J Kazina, L M Gillman
BACKGROUND: Our goal was to perform a scoping systematic review of the literature on the use of plasmapheresis or plasma exchange (PE) for refractory status epilepticus (RSE) in children. METHODS: Articles from MEDLINE, BIOSIS, EMBASE, Global Health, Healthstar, Scopus, Cochrane Library, the International Clinical Trials Registry Platform, clinicaltrials.gov (inception to May 2016), reference lists of relevant articles, and gray literature were searched. The strength of evidence was adjudicated using both the Oxford and GRADE methodology by two independent reviewers...
November 19, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27885945/clinical-imaging-and-immunohistochemical-characteristics-of-focal-cortical-dysplasia-type-ii-extratemporal-epilepsies-in-children-analyses-of-an-institutional-case-series
#9
Friederike Knerlich-Lukoschus, Mary B Connolly, Glenda Hendson, Paul Steinbok, Christopher Dunham
OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada...
November 25, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27876179/prevalence-and-risk-factors-of-peri-ictal-autonomic-changes-in-children-with-temporal-lobe-seizures
#10
Mark Whealy, Elaine Wirrell, Lily Wong-Kisiel, Katherine Nickels, Eric T Payne
BACKGROUND: We determined the prevalence of signs and symptoms of autonomic dysfunction in seizures of temporal lobe onset in children. METHODS: We evaluated the prevalence and risk factors of peri-ictal autonomic changes in temporal lobe onset seizures in children from a single-center pediatric epilepsy monitoring unit between June 1, 2009 and October 31, 2013. Age, gender, epilepsy etiology, current antiepileptic drug therapy, ictal electroencephalographic lateralization, brain magnetic resonance imaging results, and the presence of generalized tonic-clonic seizures over the preceding year were recorded from medical record review...
October 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27876089/rapid-onset-obesity-hypoventilation-hypothalamic-dysfunction-autonomic-dysregulation-and-neuroendocrine-tumor-syndrome-with-a-homogenous-enlargement-of-the-pituitary-gland-a-case-report
#11
Lama Aljabban, Lina Kassab, Nour Alhuda Bakoura, Mohammad Fayez Alsalka, Ismaeil Maksoud
BACKGROUND: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary-endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome...
November 22, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27873234/eeg-monitoring-and-antiepileptic-drugs-in-children-with-severe-tbi
#12
Christopher M Ruzas, Peter E DeWitt, Kimberly S Bennett, Kevin E Chapman, Nicole Harlaar, Tellen D Bennett
BACKGROUND: Traumatic brain injury (TBI) causes substantial morbidity and mortality in US children. Post-traumatic seizures (PTS) occur in 11-42% of children with severe TBI and are associated with unfavorable outcome. Electroencephalographic (EEG) monitoring may be used to detect PTS and antiepileptic drugs (AEDs) may be used to treat PTS, but national rates of EEG and AED use are not known. The purpose of this study was to describe the frequency and timing of EEG and AED use in children hospitalized after severe TBI...
November 21, 2016: Neurocritical Care
https://www.readbyqxmd.com/read/27871516/pediatric-patients-on-ketogenic-diet-undergoing-general-anesthesia-a-medical-record-review
#13
Elif Soysal, Heike Gries, Carter Wray
STUDY OBJECTIVE: To identify guidelines for anesthesia management and determine whether general anesthesia is safe for pediatric patients on ketogenic diet (KD). DESIGN: Retrospective medical record review. SETTING: Postoperative recovery area. PATIENTS: All pediatric patients who underwent general anesthesia while on KD between 2009 and 2014 were reviewed. We identified 24 patients who underwent a total of 33 procedures...
December 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27864847/diagnostic-targeted-resequencing-in-349-patients-with-drug-resistant-pediatric-epilepsies-identifies-causative-mutations-in-30-different-genes
#14
Elena Parrini, Carla Marini, Davide Mei, Anna Galuppi, Elena Cellini, Daniela Pucatti, Laura Chiti, Domenico Rutigliano, Claudia Bianchini, Simona Virdò, Dalila De Vita, Stefania Bigoni, Carmen Barba, Francesco Mari, Martino Montomoli, Tiziana Pisano, Anna Rosati, Renzo Guerrini
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6...
November 19, 2016: Human Mutation
https://www.readbyqxmd.com/read/27859041/increased-subcortical-oligodendroglia-like-cells-in-pharmacoresistant-focal-epilepsy-in-children-correlate-with-extensive-epileptogenic-zones
#15
Satoru Sakuma, William C Halliday, Ruka Nomura, Shiro Baba, Yosuke Sato, Kazuo Okanari, Midori Nakajima, Elysa Widjaja, Cyrus Boelman, Ayako Ochi, O Carter Snead, James T Rutka, James Drake, Steven Miller, Hiroshi Otsubo
OBJECTIVE: Cortical resections in epilepsy surgery tend to involve multiple lobes in children, compared to adults, partly due to underlying pathology. Oligodendroglia-like cells (OLCs) have been observed in surgical specimens from children with pharmacoresistant epilepsy. We hypothesize that OLCs recruit multiple-lobe epileptogenic zones in pediatric pharmacoresistant focal epilepsy. METHODS: We examined the surgical specimens from 30 children who underwent epilepsy surgery (1...
November 8, 2016: Epilepsia
https://www.readbyqxmd.com/read/27859038/duration-of-use-of-oral-cannabis-extract-in-a-cohort-of-pediatric-epilepsy-patients
#16
Lauren Treat, Kevin E Chapman, Kathryn L Colborn, Kelly G Knupp
OBJECTIVE: Oral cannabis extracts (OCEs) are being used in the treatment of epilepsy with increasing rates in the United States following product legalization; however, no studies demonstrate clear efficacy. We evaluated the duration of use of OCEs as a measure of perceived benefit in a cohort of patients with pediatric epilepsy. METHODS: Retrospective chart review was performed of children and adolescents who were given OCEs for treatment of epilepsy. RESULTS: Of the 119 patients included in the analysis, 71% terminated use of their OCE product during the study period...
November 18, 2016: Epilepsia
https://www.readbyqxmd.com/read/27858578/severe-cerebral-edema-following-nivolumab-treatment-for-pediatric-glioblastoma-case-report
#17
Xiao Zhu, Michael M McDowell, William C Newman, Gary E Mason, Stephanie Greene, Mandeep S Tamber
Nivolumab is an immune checkpoint inhibitor (ICI) currently undergoing Phase III clinical trials for the treatment of glioblastoma. The authors present the case of a 10-year-old girl with glioblastoma treated with nivolumab under compassionate-use guidelines. After the first dose of nivolumab the patient developed hemiparesis, cerebral edema, and significant midline shift due to severe tumor necrosis. She was managed using intravenous dexamethasone and discharged on a dexamethasone taper. The patient's condition rapidly deteriorated after the second dose of nivolumab, demonstrating hemiplegia, seizures, and eventually unresponsiveness with a fixed and dilated left pupil...
November 18, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/27858396/evaluation-of-short-term-neurological-outcomes-in-children-diagnosed-with-brain-abscesses
#18
Manolya Acar, Murat Sutcu, Hacer Akturk, Aygozel Muradova, Selda Hancerli-Torun, Nuran Salman, Mine Caliskan, Nail Izgi, Ayper Somer
AIM: To evaluate the neurological outcomes of children diagnosed with brain abscesses in the early post-treatment period. MATERIAL AND METHODS: This study was a retrospective analysis of pediatric brain abscess patients between January 2000 and December 2015 during a 16 years period. Patients were divided into two groups according to their outcome at the end of the treatment. The patients with good outcome were the ones without any neurological sequelae (GOS score 5)...
October 17, 2016: Turkish Neurosurgery
https://www.readbyqxmd.com/read/27857797/recurrent-acute-disseminated-encephalomyelitis-a-favorable-outcome-among-recurrent-brain-diseases-in-pediatric-patient
#19
Anirban Chatterjee, Supratim Datta
Acute disseminated encephalomyelitis (ADEM) is an idiopathic inflammatory demyelinating disease of the central nervous system (CNS) and considered mostly a monophasic course. Recurrence of ADEM is rare entity, posing diagnostic dilemma with multiple sclerosis (MS). There were no definite diagnostic criteria or established treatment for ADEM. International Pediatric MS Study Group laid down first consensus definition. We report a boy presented with recurrent episodes of fever, paraparesis, seizure, and unconsciousness...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857784/pyridoxine-dependent-convulsions-among-children-with-refractory-seizures-a-3-year-follow-up-study
#20
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Sai Deepak, Ravi Teja, Seby Kuruthukulangara
INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy...
July 2016: Journal of Pediatric Neurosciences
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