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Seizure and infant and treatment

Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
Taylor M Mehta, Ryan J Van Lieshout
Clozapine is an antipsychotic used in the management of treatment-resistant schizophrenia. However, little is known about clozapine use during pregnancy and lactation, or its impact on the mother, foetus, and infant. This review aims to summarize the available literature on the safety of clozapine use during the perinatal period. EMBASE, PsycINFO, and MEDLINE were searched from their inceptions through June 2016. The review encompasses 21 studies that have examined clozapine use during pregnancy and lactation...
October 4, 2016: Archives of Women's Mental Health
Qingmei Nie, Baohua Su, Jianping Wei
Epilepsy is one of the few neurologic disorders that requires a constant treatment during pregnancy. Epilepsy affects 0.3-0.8% of pregnant women. Prescription of antiepileptic drugs (AEDs) to pregnant women with epilepsy requires monitoring and maintaining a balance between limiting seizures and decreasing fetal exposure to the potential teratogenic effects. AEDs are also commonly used for psychiatric disorders, pain disorders, and migraines. The types of malformations that can result in fetuses exposed to AEDs include minor anomalies, major congenital malformations, intrauterine growth retardation, cognitive dysfunction, low IQ, microcephaly, and infant mortality...
October 2016: Experimental and Therapeutic Medicine
Xiangyu Liu, Taisuke Otsuki, Akio Takahashi, Takanobu Kaido
INTRODUCTION: The authors here present a rare case of a 3-month-old infant with unilateral Sturge-Weber syndrome (SWS) who had excellent seizure control and no aggravation of previous existed neurological deficits after vertical parasagittal hemispherotomy (VPH). To our knowledge, this patient with SWS was the youngest one who received VPH. CASE DESCRIPTION: The use of VPH results in a successful treatment of intractable epilepsy in a patient with seizure onset in early infancy...
2016: SpringerPlus
B Müffelmann, C G Bien
In the vast majority of women with epilepsy, no complications occur during pregnancy. Important for that is early, preconceptional counseling and close surveillance during pregnancy. The aim should be to maintain the best possible seizure control without occurrence of generalized tonic-clonic seizures while using antiepileptic drugs and with the lowest possible risk of malformations. The warnings for the prescription of valproic acid in women of reproductive age were tightened because of the dose-dependent increase in the malformation rate and other risks, especially regarding adverse effects on childhood cognitive development...
October 2016: Der Nervenarzt
Karin Buiting, Charles Williams, Bernhard Horsthemke
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin-protein ligase E3A) gene on chromosome 15q11.2-q13. This loss of function can be caused by a mutation on the maternal allele, a 5-7 Mb deletion of the maternally inherited chromosomal region, paternal uniparental disomy of chromosome 15, or an imprinting defect...
October 2016: Nature Reviews. Neurology
Sudhakaran Prasanth, Velayudhan Cheruvallil Shaji, Chacko Lyla, Vasudevapanicker Jayalakshmi
Pneumococcal meningitis remains a life-threatening infection, with varied presentations. A 3 month-old-baby with pneumococcal meningitis presented with clusters of seizures evolving into refractory status epilepticus despite standard antibiotic and aggressive anticonvulsant therapy. Progressive illness despite antibiotic initially suggested possible antibiotic resistance and resulted in addition of another antibiotic. Nonresponse to standard treatment and previous history of abscess in the back of neck pointed to some underlying congenital immunodeficiency...
April 2016: Journal of Pediatric Neurosciences
Jamie K Capal, David Neal Franz
Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 births. Mammalian target of rapamycin (mTOR) inhibitors, such as everolimus, which have been previously used to prevent solid organ transplant rejection, augment anticancer treatment regimens, and prevent neovascularization of artificial cardiac stents, are now approved for treating TSC-related manifestations, such as subependymal giant cell astrocytomas and renal angiomyolipomas. The use of everolimus in treating subependymal giant cell astrocytomas is supported by long-term Phase II and III clinical trials...
2016: Neuropsychiatric Disease and Treatment
M Maharaj, N Dungwa
A 1-week-old infant was brought to a regional hospital with a history of recurrent seizures following lower abdominal septic skin infection. She was found to have neonatal tetanus, and a spatula test was positive. The tetanus infection was associated with a superficial skin infection, common in neonates. Treatment included sedatives (diazepam, chlorpromazine, phenobarbitone and morphine), muscle relaxants, antibiotics and ventilation in the neonatal intensive care unit. Intrathecal and intramuscular immunoglobulin were given, and the wound was treated...
September 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Liudmila Kharoshankaya, Nathan J Stevenson, Vicki Livingstone, Deirdre M Murray, Brendan P Murphy, Caroline E Ahearne, Geraldine B Boylan
AIM: To examine the relationship between electrographic seizures and long-term outcome in neonates with hypoxic-ischemic encephalopathy (HIE). METHOD: Full-term neonates with HIE born in Cork University Maternity Hospital from 2003 to 2006 (pre-hypothermia era) and 2009 to 2012 (hypothermia era) were included in this observational study. All had early continuous electroencephalography monitoring. All electrographic seizures were annotated. The total seizure burden and hourly seizure burden were calculated...
September 6, 2016: Developmental Medicine and Child Neurology
Rahul Ojha, Asuri N Prasad
Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic seizures, developmental regression, failure to thrive, and an unusual hair quality (giving the condition its distinctive label of "kinky hair disease")...
2016: Journal of Multidisciplinary Healthcare
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...
August 24, 2016: Stem Cells Translational Medicine
Anusha K Yeshokumar, Lisa R Sun, Jessica L Klein, Kristin W Baranano, Carlos A Pardo
This case series demonstrates a novel clinical phenotype of gait disturbance as an initial symptom in children <3 years old with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. Anti-NMDAR encephalitis is one of the most common causes of encephalitis in children, more common than any of the viral encephalitides and the second most common autoimmune cause after acute disseminated encephalomyelitis. Anti-NMDAR encephalitis in children often presents with disrupted speech and sleep patterns followed by progression to motor dysfunction, dyskinesias, and seizures...
September 2016: Pediatrics
H Fryssira, E Tsoutsou, S Psoni, S Amenta, T Liehr, E Anastasakis, Ch Skentou, A Ntouflia, I Papoulidis, E Manolakos, N Chaliasos
BACKGROUND: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly, seizures, hypotonia, developmental delay and corpus callosum agenesis. CASE PRESENTATION: We report a 6-month-old female infant, born at 38 weeks of gestation after in vitro fertilization, who presented with feeding difficulties, irritability and developmental delay from the first months of life...
2016: Molecular Cytogenetics
Elles van der Louw, Dorine van den Hurk, Elizabeth Neal, Bärbel Leiendecker, Georgiana Fitzsimmon, Laura Dority, Lindsey Thompson, Maddelena Marchió, Magdalena Dudzińska, Anastasia Dressler, Joerg Klepper, Stéphane Auvin, J Helen Cross
BACKGROUND: The ketogenic diet (KD) is an established, effective non-pharmacologic treatment for drug resistant childhood epilepsy. For a long time, the KD was not recommended for use in infancy (under the age of 2 years) because this is such a crucial period in development and the perceived high risk of nutritional inadequacies. Indeed, infants are a vulnerable population with specific nutritional requirements. But current research shows that the KD is highly effective and well tolerated in infants with epilepsy...
November 2016: European Journal of Paediatric Neurology: EJPN
Charles W Sauer, Krishelle L Marc-Aurele
BACKGROUND This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. CASE REPORT A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died...
2016: American Journal of Case Reports
Lauren C Weeke, Geraldine B Boylan, Ronit M Pressler, Boubou Hallberg, Mats Blennow, Mona C Toet, Floris Groenendaal, Linda S de Vries
OBJECTIVE: To investigate the role of EEG background activity, electrographic seizure burden, and MRI in predicting neurodevelopmental outcome in infants with hypoxic-ischaemic encephalopathy (HIE) in the era of therapeutic hypothermia. METHODS: Twenty-six full-term infants with HIE (September 2011-September 2012), who had video-EEG monitoring during the first 72 h, an MRI performed within the first two weeks and neurodevelopmental assessment at two years were evaluated...
June 20, 2016: European Journal of Paediatric Neurology: EJPN
Kazuo Kodama, Taku Omata, Hidee Arai, Yuzo Tanabe
OBJECTIVE: We evaluated the effectiveness of synthetic adrenocorticotropic hormone (ACTH) therapy without tapering in treating patients with West syndrome. METHODS: Forty-four patients with cryptogenic (n = 7) or symptomatic (n = 37) West syndrome were treated with synthetic ACTH therapy between 2003 and 2012. The synthetic ACTH dosage was 0.0125 mg/kg/day administered daily for 2 weeks and then stopped without a tapering period. The initial effectiveness, long-term seizure outcome, and adverse effects were examined...
May 2016: No to Hattatsu. Brain and Development
Paweł Kubik, Martyna Stanios, Ewelina Iwan, Alicja Kubik
UNLABELLED: Neurofeedback (EEG biofeedback, NF) is one of the methods of non-pharmacological instrumental therapy. In the treatment of epilepsy it is considered as a complementary method, reducing the number of seizures. The aim of this study was to investigate the effect of NF on the incidence of clinical attacks and bioelectrical activity of the brain in children with epilepsy with partial seizures and secondarily generalized seizures. MATERIAL AND METHODS: The study involved a group of 78 children with partial seizures, additionally 30 of them had second-ry generalized seizures...
2016: Przegla̧d Lekarski
Paweł Kubik, Bogusława Kraj, Alicja Kubik
INTRODUCTION: Pharmacological treatment of epilepsy in some patients is ineffective and alternative methods of treatment are need. These include neurofeedback (EEG biofeedback, NF). The aim of this study was to evaluate the clinical and neurophysiological effectiveness of NF in children with epilepsy with primary generalized seizures. MATERIAL AND METHODS: The study involved a group of 63 children with primary generalized seizures, aged 6-16 years, including 39 girls and 24 boys...
2016: Przegla̧d Lekarski
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