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https://www.readbyqxmd.com/read/27935018/tolerability-and-efficacy-of-perampanel-in-children-with-refractory-epilepsy
#1
Eli Heyman, Eli Lahat, Noa Levin, Orna Epstein, Mirit Lazinger, Matitiahu Berkovitch, Revital Gandelman-Marton
AIM: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy. METHOD: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed. RESULTS: Twenty-four children treated with perampanel (15 females, 9 males) aged 1 year 6 months to 17 years (mean 10y, standard deviation [SD] 4y 5mo) were identified...
December 9, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27928725/the-efficacy-of-the-ketogenic-diet-in-infants-and-young-children-with-refractory-epilepsies-using-a-formula-based-powder
#2
Mahmoud Reza Ashrafi, Seyed Ahmad Hosseini, Gholam Reza Zamani, Mahmoud Mohammadi, Alireza Tavassoli, Reza Shervin Badv, Morteza Heidari, Parviz Karimi, Reza Azizi Malamiri
To evaluate the efficacy, safety, and tolerability of a classic 4:1 ketogenic diet using a formula-based powder in infants and children with refractory seizures who are reluctant to eat homemade foods. We conducted an open label trial and administered a ketogenic diet using formula-based power (Ketocal(®)). Twenty-seven infants and children aged between 12 months and 5 years were enrolled who had refractory seizures and were reluctant to eat homemade foods. Of 27 children, 5 were lost to follow-up and 22 were remained at the end of the study...
December 7, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27923222/pediatric-primary-diffuse-leptomeningeal-primitive-neuroectodermal-tumor-a-case-report-and-literature-review
#3
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/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#4
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27891417/a-commonly-missed-well-known-entity-acute-intermittent-porphyria-a-case-report
#5
Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#6
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27879542/central-nervous-system-symptoms-due-to-transient-methemoglobinemia-in-a-child-with-g6pd-deficiency
#7
Shreya Sharma, Rangan Srinivasaraghavan, Sriram Krishnamurthy
The authors herein report a 5-year-old child who presented with massive hemolysis, irritability, and cyanosis. The final diagnosis was glucose-6-phosphate dehydrogenase deficiency with associated central nervous system symptoms probably because of concomitantly acquired methemoglobinemia following oxidant drug exposure. The associated acute-onset anemia would have contributed to the development of cerebral anoxia-related seizures and encephalopathy.
November 22, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#8
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27875769/status-epilepticus-in-pregnant-women-with-epilepsy-after-valproate-adjustment-a-case-series
#9
Mengqian Wu, Nanya Hao, Bo Yan, Xiaosa Chi, Dong Zhou
PURPOSE: Valproate is an effective wide-spectrum anti-epileptic drug that is also known to be teratogenic. Its administration in epileptic women remains controversial. This report aims to draw more attention to valproate adjustment before and during pregnancy. METHODS: We collected medical records of pregnant women with epilepsy at West China Hospital in Chengdu, China who developed status epilepticus during pregnancy after valproate withdrawal or reduction in dose from January 2013 to July 2015...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#10
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27857800/dyke-davidoff-masson-syndrome-a-rare-cause-of-cerebral-hemiatrophy-in-children
#11
Pareshkumar A Thakkar, Reema Haresh Dave
Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon condition, in which the diagnosis is mainly done by various clinical presentations along with positive radiological findings. Patients have facial asymmetry, seizures, learning difficulties, and contralateral hemiparesis. The radiological discoveries of the same incorporate cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. Here, we report a case of a 10-year-old female child who presented with a single episode of convulsion, mental retardation, and contralateral hemiparesis...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857459/primary-diffuse-leptomeningeal-oligodendrogliomatosis-a-case-report-and-literature-review
#12
Amarnath Chellathurai, Jay S Vaidya, Gopinathan Kathirvelu, Periakaruppan Alagappan
Primary leptomeningeal oligodendrogliomatosis (PLO) is a rare low-grade intracranial and spinal canal subarachnoid neoplasm without an obvious primary neoplasm in the brain or spinal cord parenchyma. We present here the serial progression of radiological findings of this rare disease in a 2-year-old male child whose clinical status deteriorated over a period of 4 months with the main complaint of partial seizures. During this period, the MR findings progressed from mild hydrocephalus with minimal leptomeningeal enhancement to leptomeningeal multiple cystic lesions in the entire neuraxis including the spine...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27856333/novel-homozygous-missense-mutation-in-aldh7a1-causes-neonatal-pyridoxine-dependent-epilepsy
#13
Emanuele G Coci, Luca Codutti, Christian Fink, Sophie Bartsch, Gunnar Grüning, Thomas Lücke, Ingo Kurth, Joachim Riedel
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain. ALDH7A1 dysfunction causes an accumulation of α-AASA and δ(1)-piperideine-6-carboxylic acid (P6C), which are in equilibrium with each other. P6C binds and inactivates pyridoxal 5'-phosphate (PLP), the active form of pyridoxine...
November 14, 2016: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/27843467/comparison-of-relation-between-attention-deficit-hyperactivity-disorder-in-children-with-and-without-simple-febrile-seizure-admitted-in-arak-central-iran
#14
Bahman Salehi, Parsa Yousefichaijan, Smira Safi Arian, Somaieh Ebrahimi, Mahdyieh Naziri
OBJECTIVE: Febrile seizure is one of the most prevalent childhood convulsions with the most common age of onset at 14-18 mo old. Fever decreases the brain threshold for seizure. Attention Deficit Hyperactivity Disorder (ADHD) is also a neurologic-behavioral problem defined by attention deficit and hyperactivity according to DSM-IV criteria in which the child must have these signs in two different environments. There is controversy on the possible relation between febrile seizure and ADHD; while some studies approve a strong relation, some exclude any relation and some attribute ADHD to the side effects of other reasons...
2016: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/27830116/headache-maybe-the-initial-symptom-in-rasmussen-s-syndrome-a-child-case-report
#15
Zhiliang Yang, Guilian Sun
OBJECTIVE: The aim of this case report was to study that headache maybe the initial symptom in Rasmussen's syndrome (RS). INTRODUCTION: Headache has not yet been reported as prodromal symptom. METHODS: We studied a case of RS in which the patient experienced a recurring headache for about one year prior to the onset of partial seizures. RESULTS: Magnetic resonance imaging (MRI) results were normal when the headache first occurred and showed left brain atrophy three years later...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27823133/dealing-with-a-child-who-presents-with-seizures
#16
(no author information available yet)
Considering that seizures represent a significant cause of mortality in children, A&E nurses can play a pivotal role in providing support and reassurance to parents who witness a child convulsing. The article explores clinical presentation, diagnosis and management of recurrent seizures. It includes two reflective case studies to illustrate how children may present.
October 5, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27807115/subclassification-of-gmfcs-level-5-cerebral-palsy-as-a-predictor-of-complications-and-health-related-quality-of-life-after-spinal-arthrodesis
#17
Amit Jain, Paul D Sponseller, Suken A Shah, Amer Samdani, Patrick J Cahill, Burt Yaszay, Dolores B Njoku, Mark F Abel, Peter O Newton, Michelle C Marks, Unni G Narayanan
BACKGROUND: The Gross Motor Function Classification System (GMFCS) of cerebral palsy categorizes patients by mobility. Patients at GMFCS level 5 are considered the most disabled and at high risk of hip and spine problems, yet they represent a wide spectrum of function. Our aim was to subclassify patients at GMFCS level 5 who underwent spinal arthrodesis on the basis of central neuromotor impairments and to assess whether subclassification predicted postoperative complications and changes in health-related quality of life...
November 2, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#18
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27781110/why-fever-phobia-is-still-common
#19
Suzan Gunduz, Esma Usak, Tulin Koksal, Metin Canbal
BACKGROUND: Fever is a reliable sign of illness, but it also evokes fear and anxiety. It is not the fever itself but the fear of possible complications and accompanying symptoms that is important for pediatricians and parents. OBJECTIVES: We aimed to investigate maternal understanding of fever, its potential consequences, and impacts on the treatment of children. PATIENTS AND METHODS: A questionnaire was use to explore the attitudes, knowledge, and practices of mothers of 861 children brought to four medical centers in different regions of Turkey in 2012, with fever being the chief complaint...
August 2016: Iranian Red Crescent Medical Journal
https://www.readbyqxmd.com/read/27780163/giant-hypothalamic-hamartoma-in-an-infant-a-case-report-and-review-of-the-literature
#20
Sandeep Kandregula, Amey R Savardekar, B N Nandeesh, A Arivazhagan, Malla Bhaskar Rao
Giant hypothalamic hamartomas (GHH) are extremely rare lesions in infants and usually intrinsically epileptogenic. We present the case of a 10-month-old girl child presenting with drug-resistant seizures and a giant hypothalamic lesion that was confirmed as hamartoma on histopathology. Surgical decompression and disconnection from the hypothalamus was performed with the intent of controlling her seizures. Unfortunately, the patient developed right middle cerebral artery and posterior cerebral artery territory infarction, possibly due to vasospasm or thrombosis of the vessels...
2017: Pediatric Neurosurgery
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