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Seizure and infant and treatment

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https://www.readbyqxmd.com/read/28543284/in-utero-oxcarbazepine-exposure-and-neonatal-abstinence-syndrome-case-report-and-brief-review-of-the-literature
#1
Chao-Yang Chen, Xing Li, Ling-Yue Ma, Peng-Hui Wu, Ying Zhou, Qi Feng, Yi-Min Cui
Oxcarbazepine is a second-generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12-hour-old neonate who developed neonatal abstinence syndrome (NAS) following intrauterine exposure to oxcarbazepine. The neonate was born by cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone...
May 20, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28530318/-severe-infantile-hypophosphatasia
#2
Evgenia Gurevich, Daniel Landau
Hypophosphatasia is the inborn error of metabolism that is characterized by low serum alkaline-phosphatase activity, due to loss-of-function mutations within the gene for tissuenonspecific isoenzyme of alkaline phosphatase [TNSALP]. The manifestations of hypophosphatasia range from neonatal death with almost no skeletal mineralization to dental problems in adults without any bone symptoms. There are no case reports of infantile hypophosphatasia in Israel. The existence of enzymatic replacement treatment for this disease makes it important to diagnose this problem as soon as possible...
January 2017: Harefuah
https://www.readbyqxmd.com/read/28524225/-how-must-we-manage-epileptic-encephalopathies-in-infants-conclusions
#3
V Soto-Insuga
Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#4
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28506505/the-utility-of-surveillance-electroencephalography-to-guide-early-antiepileptic-drug-therapy-in-infants-with-tuberous-sclerosis-complex
#5
Robyn Whitney, Saber Jan, Maria Zak, Bláthnaid McCoy
BACKGROUND: Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on electroencephalography (EEG) before clinical seizure onset. A limited number of studies have addressed the initial EEG findings in TSC and the outcome of early treatment with antiepileptic medication prior to clinical seizure onset. METHODS: We describe two infants with tuberous sclerosis complex whose surveillance EEG showed focal seizures that were not previously recognized by caregivers...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#6
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28414398/tuberous-sclerosis-complex-a-review
#7
Stephanie Carapetian Randle
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can present at any age and can affect multiple organ systems. This disorder is usually identified in infants and children based on characteristic skin lesions, seizures, and cellular overgrowth or hamartomas in the heart, brain, and kidneys. Tuberous sclerosis complex is a genetic disorder caused by a mutation in either the TSC1 or TSC2 gene leading to dysfunction of hamartin or tuberin, respectively. Hamartin and tuberin form a protein complex that helps regulate cellular hyperplasia...
April 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28383534/the-effect-of-therapeutic-hypothermia-on-heart-rate-variability
#8
Z A Vesoulis, R Rao, S B Trivedi, A M Mathur
OBJECTIVE: Heart rate variability (HRV) reflects integrity of the autonomic nervous system. However, no study has investigated the impact of therapeutic hypothermia (TH) on HRV measures in infants with hypoxic-ischemic encephalopathy (HIE). In this study, we evaluate the influence of temperature on measures of HRV for a group of infants with favorable outcomes, as compared with a control group of infants with unfavorable outcomes. STUDY DESIGN: Term-born infants with moderate-severe HIE underwent standard TH treatment and prospective electroencephalography (EEG) and electrocardiogram (ECG) recording...
April 6, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28383430/timing-of-surgical-ligation-and-morbidities-in-very-low-birth-weight-infants
#9
COMPARATIVE STUDY
YoungAh Youn, Cheong-Jun Moon, Jae-Young Lee, Cheul Lee, In Kyung Sung
The present study examined whether early patent ductus arteriosus (PDA) surgical ligation at ≤2 weeks of life was associated with increased morbidities and mortality in very low birth weight infants (VLBWIs) who were diagnosed with hemodynamically significant (hs) PDA. Between December 2013 and December 2015, a total of 407 VLBWIs were admitted, of whom 145 (35.6%) infants were diagnosed with an hs PDA. The clinical data for these infants were retrospectively collected for analysis. Among the 145 VLBWIs with an hs PDA, 58 (40%) infants had surgical ligation for PDA; of these, 29 (50%) infants had early ligation (EL; ligation at ≤2 weeks of life) and 29 (50%) infants had late ligation (LL; ligation at ≥2 weeks of life)...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28341645/paroxysmal-eye-head-movements-in-glut1-deficiency-syndrome
#10
Toni S Pearson, Roser Pons, Kristin Engelstad, Steven A Kane, Michael E Goldberg, Darryl C De Vivo
OBJECTIVE: To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). METHODS: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. RESULTS: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28331868/a-novel-practical-equation-for-treatment-of-emergent-hypernatremia-and-dehydration-phase-in-infants
#11
Saba Ghaffary, Azadeh Moghaddas, Mehrnoush Dianatkhah
Serum sodium (Na) concentration more than 145 mmol/L is defined as hypernatremia. Hypernatremia carries an acute morbidity and mortality, especially in neonates and infants. Rapid correction of hypernatremia leads to severe cerebral damages, and seizure is the most common neurological complication of hypernatremia. Selection and calculation of an appropriate fluid and its amount is one of the tremendous challenges. It is important to choose the correct amount of suitable fluid and adjust rehydration rate. In this study, we have suggested practical equation to determine the amount of fluid that should be administered to the neonates and infants with hypernatremia...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28316319/epileptic-spasms-in-paediatric-post-traumatic-epilepsy-at-a-tertiary-referral-centre
#12
Jun T Park, Harry T Chugani
To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non-accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post-traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology...
March 17, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28298039/interactions-between-glioma-and-pregnancy-insight-from-a-52-case-multicenter-series
#13
Sophie Peeters, Mélanie Pagès, Guillaume Gauchotte, Catherine Miquel, Stéphanie Cartalat-Carel, Jean-Sébastien Guillamo, Laurent Capelle, Jean-Yves Delattre, Patrick Beauchesne, Marc Debouverie, Denys Fontaine, Emmanuel Jouanneau, Jean Stecken, Philippe Menei, Olivier De Witte, Philippe Colin, Didier Frappaz, Thierry Lesimple, Luc Bauchet, Manuel Lopes, Laurence Bozec, Elisabeth Moyal, Christophe Deroulers, Pascale Varlet, Marc Zanello, Fabrice Chretien, Catherine Oppenheim, Hugues Duffau, Luc Taillandier, Johan Pallud
OBJECTIVE The goal of this study was to provide insight into the influence of gliomas on gestational outcomes, the impact of pregnancy on gliomas, and the identification of patients at risk. METHODS In this multiinstitutional retrospective study, the authors identified 52 pregnancies in 50 women diagnosed with a glioma. RESULTS For gliomas known prior to pregnancy (n = 24), we found the following: 1) An increase in the quantified imaging growth rates occurred during pregnancy in 87% of cases. 2) Clinical deterioration occurred in 38% of cases, with seizures alone resolving after delivery in 57...
March 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28284393/epilepsy-in-inborn-errors-of-metabolism-with-therapeutic-options
#14
Jaume Campistol
Inborn errors of metabolism (IEM) are rare conditions that represent more than 1000 diseases, with a global prevalence of approximately 1:2000 individuals. Approximately, 40%-60% of IEM may present with epilepsy as one of the main neurologic signs. Epilepsy in IEM may appear at any age (fetal, newborn, infant, adolescent, or even adult). Different pathophysiological mechanisms may be responsible for the clinical phenotype, such as disturbances in energy metabolism (mitochondrial and fatty oxidation disorders, GLUT-1, and cerebral creatine deficiency), accumulation of complex molecules (lysosomal storage disorders), toxic mechanisms (organic acidurias and urea cycle disorders), or impairment of neurotransmission...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28272074/when-potion-becomes-poison-a-case-report-of-flecainide-toxicity
#15
S Bajaj, M S Tullu, Zah Khan, M Agrawal
We report a 48-day-old female infant, who developed cardiac conduction abnormalities and seizures secondary to supratherapeutic doses of oral flecainide. Flecainide was started in this infant for treatment of supraventricular tachycardia. The drug was withdrawn with successful normalization of the QRS complex and no further recurrence of seizures. The Naranjo probability score for adverse drug reaction was 8, making the causality "probable." The case restates an important message that physicians should be aware of the side effects of the drugs that they prescribe, especially of those drugs which have a narrow therapeutic window...
March 3, 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#16
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28202706/clinical-and-genetic-factors-predicting-dravet-syndrome-in-infants-with-scn1a-mutations
#17
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28170189/mesenchymal-stem-cells-yield-transient-improvements-in-motor-function-in-an-infant-rhesus-macaque-with-severe-early-onset-krabbe-disease
#18
Irina A Isakova, Kate C Baker, Jason Dufour, Donald G Phinney
Krabbe disease, or globoid cell leukodystrophy, is a rare disorder caused by deficient galactosylceramidase activity and loss of myelin-forming oligodendrocytes, resulting in progressive demyelination and severely impaired motor function. Disease symptoms in humans appear within 3-6 months of age (early infantile) and manifest as marked irritability, spasticity, and seizures. The disease is often fatal by the second year of life, with few effective treatment options. Herein we evaluated the therapeutic potential of mesenchymal stem cells (MSCs) administered intracranially to a 1-month-old rhesus macaque diagnosed with severe early-onset Krabbe disease that displayed neurologic and behavioral symptoms similar to those of human patients...
January 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28169412/-reversible-alterations-in-the-neuroimages-associated-with-vigabatrine-treatment-in-infants-with-epileptic-spasms
#19
M A Fernandez-Garcia, J J Garcia-Penas, H Gomez-Martin, I Perez-Sebastian, E Garcia-Esparza, S Sirvent-Cerda
INTRODUCTION: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment. CASE REPORTS: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms...
February 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28168591/neonatal-abstinence-syndrome-trend-and-expenditure-in-louisiana-medicaid-2003-2013
#20
Ekwutosi M Okoroh, Rebekah E Gee, Baogong Jiang, Melissa B McNeil, Beverly A Hardy-Decuir, Amy L Zapata
Objectives Determine trends in incidence and expenditure for perinatal drug exposure and neonatal abstinence syndrome (NAS) among Louisiana's Medicaid population. We also describe the maternal characteristics of NAS affected infants. Methods Retrospective cohort analysis using linked Medicaid and vital records data from 2003 to 2013. Conducted incidence and cost trends for drug exposed infants with and without NAS. Also performed comparison statistics among drug exposed infants with and without NAS and those not drug exposed...
February 6, 2017: Maternal and Child Health Journal
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