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https://www.readbyqxmd.com/read/28336122/familial-acute-necrotizing-encephalopathy-with-ranbp2-mutation-the-first-report-in-northeast-asia
#1
Yun-Jeong Lee, Su-Kyeong Hwang, So Mi Lee, Soonhak Kwon
BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare but rapidly progressing encephalopathy following a febrile illness, commonly a viral infection. It is characterized by the features of acute encephalopathy such as seizure, alteration of consciousness, and symmetric involvement of the bilateral thalamus on neuroimaging tests. Although most ANE cases have occurred sporadically, familial or recurrent ANE has been reported in Caucasian patients, with genetic susceptibility to ANE noted in some patients due to a RANBP2 mutation...
March 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/28328233/long-term-neurodevelopmental-outcome-of-neonates-with-hypernatremic-dehydration
#2
Hassan Boskabadi, Javad Akhondian, Maliheh Afarideh, Gholamali Maamouri, Sepideh Bagheri, Seyyed Mostafa Parizadeh, Majid Ghayour Mobarhan, Shabnam Mohammadi, Gordon A A Frens
BACKGROUND: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed to evaluate the consequences of NHD in infants in their second year of life. MATERIALS AND METHODS: This was a prospective case-control study in Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) and 65 hypernatremic (serum sodium concentration ≥150 mmol/L) neonates were followed up from 2008 to 2011...
March 22, 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#3
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28295228/cognitive-network-reorganization-following-surgical-control-of-seizures-in-lennox-gastaut-syndrome
#4
Aaron E L Warren, A Simon Harvey, David F Abbott, Simon J Vogrin, Catherine Bailey, Andrew Davidson, Graeme D Jackson, John S Archer
We previously observed that adults with Lennox-Gastaut syndrome (LGS) show abnormal functional connectivity among cognitive networks, suggesting that this may contribute to impaired cognition. Herein we report network reorganization following seizure remission in a child with LGS who underwent functional magnetic resonance imaging (fMRI) before and after resection of a cortical dysplasia. Concurrent electroencephalography (EEG) was acquired during presurgical fMRI. Presurgical and postsurgical functional connectivity were compared using (1) graph theoretical analyses of small-world network organization and node-wise strength; and (2) seed-based analyses of connectivity within and between five functional networks...
March 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28287069/ictus-emeticus-presenting-as-an-unusual-seizure-type-in-chromosome-22q11-2-deletion-syndrome
#5
Pi-Lien Hung, Li-Tung Huang, Shang-Yeong Kwan, Kai-Ping Chang, Hsin-Hung Chen, Yi-Yen Lee, Hueng-Chuen Fan, Chien Chen
We present a case study of a patient with chromosome 22q11.2 deletion syndrome presenting with ictus emeticus, together with a review of the relevant literature. The patient developed generalized tonic-clonic seizures at 3 months old, and seizures eventually remitted after calcium therapy. He then experienced vigorous vomiting that occurred during sleep, with glassy eyes and legs flexion. Video-EEG recordings exhibited a switch in background activity from organized reactivity during normal sleep to left lateralized temporal delta activity, which was bilaterally synchronized during an emetic attack...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28278415/paediatric-active-enhanced-disease-surveillance-inaugural-annual-report-2014
#6
Yvonne A Zurynski, Jocelynne E McRae, Helen E Quinn, Nicholas J Wood, Kristine K Macartney
INTRODUCTION: The Paediatric Active Enhanced Disease Surveillance (PAEDS) network is a hospital-based active surveillance system employing prospective case ascertainment of selected uncommon vaccine preventable diseases and potential adverse events following immunisation (AEFI). PAEDS enhances other Australian surveillance systems by providing prospective detailed clinical and laboratory data for the same child. METHODS: Specialist surveillance nurses screen hospital admissions, emergency department records, laboratory and other data, to prospectively identify hospitalised children aged under 15 years in 5 paediatric tertiary referral hospitals in New South Wales, Victoria, South Australia, Western Australia and Queensland...
September 30, 2016: Communicable Diseases Intelligence Quarterly Report
https://www.readbyqxmd.com/read/28275972/dihydropyrimidine-dehydrogenase-deficiency-metabolic-disease-or-biochemical-phenotype
#7
M Fleger, J Willomitzer, R Meinsma, M Alders, J Meijer, R C M Hennekam, M Huemer, A B P van Kuilenburg
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of pyrimidine metabolism that impairs the first step of uracil und thymine degradation. The spectrum of clinical presentations in subjects with the full biochemical phenotype of DPD deficiency ranges from asymptomatic individuals to severely affected patients suffering from seizures, microcephaly, muscular hypotonia, developmental delay and eye abnormalities.We report on a boy with intellectual disability, significant impairment of speech development, highly active epileptiform discharges on EEG, microcephaly and impaired gross-motor development...
March 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28275953/design-and-comparative-evaluation-of-the-anticonvulsant-profile-carbonic-anhydrate-inhibition-and-teratogenicity-of-novel-carbamate-derivatives-of-branched-aliphatic-carboxylic-acids-with-4-aminobenzensulfonamide
#8
David Bibi, Hafiz Mawasi, Alessio Nocentini, Claudiu T Supuran, Bogdan Wlodarczyk, Richard H Finnell, Meir Bialer
Epilepsy is one of the most common neurological diseases, with between 34 and 76 per 100,000 people developing epilepsy annually. Epilepsy therapy for the past 100(+) years is based on the use of antiepileptic drugs (AEDs). Despite the availability of more than twenty old and new AEDs, approximately 30% of patients with epilepsy are not seizure-free with the existing medications. In addition, the clinical use of the existing AEDs is restricted by their side-effects, including the teratogenicity associated with valproic acid that restricts its use in women of child-bearing age...
March 9, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#9
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28259480/do-all-children-who-present-with-a-complex-febrile-seizure-need-a-lumbar-puncture
#10
Romain Guedj, Hélène Chappuy, Luigi Titomanlio, Loic De Pontual, Sandra Biscardi, Gisèle Nissack-Obiketeki, Béatrice Pellegrino, Oussama Charara, François Angoulvant, Julien Denis, Corinne Levy, Robert Cohen, Solène Loschi, Pierre Louis Leger, Ricardo Carbajal
STUDY OBJECTIVE: We assess the prevalences of bacterial meningitis and herpes simplex virus meningoencephalitis (HSV-ME) in children with a complex febrile seizure and determine these prevalences in the subgroup of children with a clinical examination result not suggestive of meningitis or encephalitis. METHODS: This multicenter retrospective study was conducted in 7 pediatric emergency departments (EDs) in the region of Paris, France. Visits of patients aged 6 months to 5 years for a complex febrile seizure from January 2007 to December 2011 were analyzed...
March 1, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28257538/multidisciplinary-approach-to-complicated-pregnancy
#11
Josip Andelo Borovac, Josko Bozic, Tina Ticinovic Kurir, Nikola Zaja, Kresimir Kolic, Vedran Hrboka
A nulliparous pregnant woman in her mid-20s and in the 32nd week of gestation presented to the emergency department with severe headache and vomiting. She had an uneventful medical history; however, the physical examination upon hospital admission revealed a hypertensive emergency, papilledema, and 2+ dipstick proteinuria. Upon establishing the diagnosis of preeclampsia, aggressive therapy with corticosteroids, antihypertensive medication, and seizure prophylaxis was initiated. Hemodynamic stability was achieved within 24 hours and the patient remained in the observation unit located within the gynecology clinic...
March 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28243803/co-infection-with-coxsackievirus-a5-and-norovirus-gii-4-could-have-been-the-trigger-of-the-first-episode-of-severe-acute-encephalopathy-in-a-six-year-old-child-with-the-intermittent-form-of-maple-syrup-urine-disease-msud
#12
Ákos Boros, Péter Pankovics, Sándor Kőmíves, Zoltán Liptai, Sarolta Dobner, Enikő Ujhelyi, György Várallyay, Petra Zsidegh, Nóra Bolba, Gábor Reuter
In this case study, a co-infection with coxsackievirus A5 (family Picornaviridae) and norovirus GII.4 (family Caliciviridae) was detected by RT-PCR in a faecal sample from a six-year-old girl with symptoms of severe acute encephalopathy subsequently diagnosed as the intermittent form of maple syrup urine disease (MSUD). The two co-infecting viruses, which had been detected previously, appeared to have triggered the underlying metabolic disorder. Here, we describe the genotyping of the viruses, as well as the chronological course, laboratory test results, and clinical presentation of this case, which included recurrent vomiting without diarrhoea, metabolic acidosis, unconsciousness, seizure and circulatory collapse, but with a positive final outcome...
February 27, 2017: Archives of Virology
https://www.readbyqxmd.com/read/28242084/understanding-death-in-children-with-epilepsy
#13
REVIEW
Elizabeth J Donner, Peter Camfield, Linda Brooks, Jeffrey Buchhalter, Carol Camfield, Tobias Loddenkemper, Elaine Wirrell
Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurologic disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP)...
January 31, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28237319/epilepsy-treatment-in-adults-and-adolescents-expert-opinion-2016
#14
REVIEW
Jerry J Shih, Julia B Whitlock, Nicole Chimato, Emily Vargas, Steven C Karceski, Ryan D Frank
INTRODUCTION: There are over twenty anti-seizure medications and anti-seizure devices available commercially in the United States. The multitude of treatment options for seizures can present a challenge to clinicians, especially those who are not subspecialists in the epilepsy field. Many clinical questions are not adequately answered in double-blind randomized controlled studies. In the presence of a knowledge gap, many clinicians consult a respected colleague with acknowledged expertise in the field...
February 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28236729/parental-stress-pediatric-quality-of-life-and-behavior-at-baseline-and-one-year-follow-up-results-from-the-febstat-study
#15
Ruth C Shinnar, Shlomo Shinnar, Dale C Hesdorffer, Kathryn O'Hara, Terrie Conklin, Karen Mohler Cornett, Diana Miazga, Shumei Sun
Febrile status epilepticus is a serious and frightening event in the life of the child and parent. It is regarded as a medical emergency with potential long lasting consequences. The purpose of this study was to look at the immediate and long term effects of such an event on parental stress and parents' perception of their child's physical and psychosocial wellbeing. METHODS: From 2003 to 2010, 199 subjects, age 1 month to 5 years, were recruited as part of a prospective, multicenter study (FEBSTAT) of consequences of febrile status epilepticus (FSE)...
February 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28235671/scn3a-deficiency-associated-with-increased-seizure-susceptibility
#16
Tyra Lamar, Carlos G Vanoye, Jeffrey Calhoun, Jennifer C Wong, Stacey B B Dutton, Benjamin S Jorge, Milen Velinov, Andrew Escayg, Jennifer A Kearney
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α subunit, have been identified in patients with focal epilepsy. Biophysical characterization of epilepsy-associated SCN3A variants suggests that both gain- and loss-of-function SCN3A mutations may lead to increased seizure susceptibility. In this report, we identified a novel SCN3A variant (L247P) by whole exome sequencing of a child with focal epilepsy, developmental delay, and autonomic nervous system dysfunction...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28225210/prophylactic-drug-management-for-febrile-seizures-in-children
#17
REVIEW
Martin Offringa, Richard Newton, Martinus A Cozijnsen, Sarah J Nevitt
BACKGROUND: Febrile seizures occurring in a child older than one month during an episode of fever affect 2% to 4% of children in Great Britain and the United States and recur in 30%. Rapid-acting antiepileptics and antipyretics given during subsequent fever episodes have been used to avoid the adverse effects of continuous antiepileptic drugs. OBJECTIVES: To evaluate primarily the effectiveness and safety of antiepileptic and antipyretic drugs used prophylactically to treat children with febrile seizures; but also to evaluate any other drug intervention where there was a sound biological rationale for its use...
February 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28217168/idiopathic-bilateral-chronic-subdural-hematoma-with-left-internal-carotid-artery-infarct-in-a-3-months-infant-a-rare-case-report
#18
Mahesh Kumar, Krishan Yadav, Saurabh Kumar Verma, Vikas Maheshwari
Spontaneous chronic subdural hematoma (CSH) in infants is extremely rare. A very limited number of cases are known and reported in literature. The clinical presentation can be myriad varying from asymptomatic cases to gross neurological deficits. We report a case of a 3-month-old child who presented to us with repeated episodes of focal seizures of the left upper and lower limb of 1 month duration. Subsequent imaging revealed bilateral CSH (right > left) with left internal carotid artery infarct and midline shift to left by 8 mm...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217067/septo-optic-dysplasia-de-morsier-s-syndrome
#19
Pedro Reis, Joana Mourão
Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. A 9-year-old male child proposed for dental treatments/extractions. Medical history of SOD with hypopituitarism, hypothyroidism, and delayed psychomotor development was observed...
January 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28214777/utility-of-long-term-video-eeg-monitoring-for-children-with-staring
#20
Anup D Patel, Babitha Haridas, Zachary M Grinspan, Jack Stevens
OBJECTIVE: Staring spells are a common reason for referral to overnight epilepsy monitoring unit (EMU) evaluation. However, inpatient EMU admissions are expensive and time consuming. This study determined what percentage of those referred for staring had a confirmed epileptic seizure on long-term video-EEG monitoring (LTM) and developed a scoring system to help prioritize which patients should undergo this procedure. METHODS: We performed a four-year retrospective chart review of all children at a tertiary pediatric hospital who received LTM (long-term monitoring) for the purposes of characterizing staring...
February 16, 2017: Epilepsy & Behavior: E&B
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