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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28728813/central-nervous-system-involvement-in-primary-hyperoxaluria-demonstrated-by-brain-ultrasonography
#1
EDITORIAL
Ana Alarcon
No abstract text is available yet for this article.
July 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28734769/influence-of-epileptic-activity-during-sleep-on-cognitive-performance-in-benign-childhood-epilepsy-with-centrotemporal-spikes
#2
Andreea Nissenkorn, Adi Pappo, Yael Feldmann, Gali Heimer, Omer Bar-Yosef, Michal Tzadok, Orli Polack, Ayelet Bord, Miriam Levav, Bruria Ben-Zeev
BACKGROUND: Benign childhood epilepsy with centrotemporal spikes is benign childhood epilepsy, presenting between 4 and 10 years of age, characterized by typical clinical and EEG findings. Despite excellent prognosis, there are reports of mild cognitive, language, fine motor and behavioral difficulties. In its atypical form - electrical status epilepticus during slow wave sleep, continuous epileptiform activity during sleep lead to severe neurocognitive deterioration. Our objective was to investigate the influence of abundant sleep epileptiform activity, not fulfilling the criteria for electrical status epilepticus during Slow Wave Sleep, discovered randomly in children without overt intellectual impairment...
July 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28711503/leigh-like-syndrome-due-to-opa1-mutations
#3
LETTER
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
July 5, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28694135/characteristics-of-pediatric-multiple-sclerosis-the-turkish-pediatric-multiple-sclerosis-database
#4
Ünsal Yılmaz, Banu Anlar, Kıvılcım Gücüyener
OBJECTIVE: To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. METHODS: Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (<12 years) and later-onset (≥12 years) groups were compared. RESULTS: There were 123 (63.7%) girls and 70 (36.3%) boys aged 4-17 years, median 14 years at disease onset. Family history of MS was 6...
June 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28655493/eeg-with-extreme-delta-brush-in-young-female-with-methotrexate-neurotoxicity-supports-nmda-receptor-involvement
#5
Lisbeth Samsø Schmidt, Troels W Kjær, Kjeld Schmiegelow, Alfred Peter Born
Sub-acute neurotoxicity is a well-known complication to high-dose and intrathecal methotrexate (MTX) treatment of children with leukemia. Symptoms can be treated safely by dextromethorphan, a non-competitive antagonist to N-methyl-D-aspartic acid receptor (NMDAR). In a female with subacute MTX neurotoxicity, we observed an electroencephalographic (EEG) with extreme delta brush. Extreme delta brush is an EEG pattern previously described in patients with NMDAR autoimmune encephalitis. The observations suggest that the mechanism of this neurotoxicity may be mediated by the NMDAR...
June 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28651815/crystal-clear-cerebral-ultrasound-images-mimicking-acute-asphyxia-in-an-infant-with-primary-hyperoxaluria
#6
Giulia Ardemani, Paul Govaert, Esmee Oussoren, Eiske Dorresteijn, Enno Wildschut, Maarten Lequin, Jeroen Dudink
Genetic deficiencies in enzymes involved in glyoxylate metabolism lead to primary hyperoxaluria (PH) type I, typically characterized by deposition of oxalate crystals in kidneys. A 2-month-old infant was admitted, and was diagnosed with renal failure. Abdominal ultrasound images revealed enlarged and hyperechoic kidneys. Additionally, on cerebral ultrasound (CUS) hyperechoic changes of thalami and basal ganglia were noted, reminiscent of perinatal hypoxic-ischemic brain damage. However, MRI of the brain did not show any abnormal signal intensities compatible with asphyxia...
June 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28648758/the-time-window-for-successful-right-hemispheric-language-reorganization-in-children
#7
Karen Lidzba, Hanna Küpper, Gerhard Kluger, Martin Staudt
AIM: To identify, in a retrospective, observational study, the time window during which successful right-hemispheric language reorganization is possible after left-hemispheric brain damage. METHOD: 25 patients (10 females; age 6-41 years; ≥12 months after insult; age at insult 0;3-15;11 years) with acute, language-relevant left-hemispheric insults acquired during childhood and adolescence completed questionnaires for self-assessment of language problems. 12 patients of those reporting no (n = 8) or only moderate (n = 4) language problems participated in language fMRI...
June 12, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28694134/hashimoto-s-encephalopathy-and-anti-mog-antibody-encephalitis-50-years-after-lord-brain-s-description
#8
Kerrie-Anne Chen, Fabienne Brilot, Russell C Dale, Antony R Lafferty, Peter Ian Andrews
PURPOSE: To consider the role of anti-MOG Abs associated encephalitis in Hashimoto's Encephalitis (HE). RESULTS: A 10 year old girl with pre-existing Hashimoto's thyroiditis presented with dysarthria, ataxia and lethargy whilst euthyroid. Brain MRI showed multifocal T2 and FLAIR hyperintense lesions. She responded promptly to treatment with corticosteroids. Her clinical scenario was comparable to a sizeable minority of patients diagnosed with HE in the literature, who have similar brain MRIs...
June 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28625338/acute-diplopia-in-the-pediatric-emergency-department-a-cohort-multicenter-italian-study
#9
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Francesco La Penna, Valentina Ferro, Lucia Calistri, Claudia Bondone, Fabio Midulla, Agnese Suppiej, Raffaele Falsaperla, Duccio Maria Cordelli, Antonella Palmieri, Alberto Verrotti, Sabrina Becciani, Sonia Aguzzi, Mario Mastrangelo, Federica Pelizza, Filippo Greco, Giulia Carbonari, Ramona Tallone, Gabriella Bottone, Italo Trenta, Stefano Masi, Maria Pia Villa, Antonino Reale
BACKGROUND: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD. AIM: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions...
June 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28623069/neonatal-hypoglycemia-a-wide-range-of-electroclinical-manifestations-and-seizure-outcomes
#10
Ebru Arhan, Zeynep Öztürk, Ayşe Serdaroğlu, Kürşad Aydın, Tuğba Hirfanoğlu, Yılmaz Akbaş
PURPOSE: We examined the various types of epilepsy in children with neonatal hypoglycemia in order to define electroclinical and prognostic features of these patients. METHOD: We retrospectively reviewed the medical records of patients with a history of symptomatic neonatal hypoglycaemia who have been followed at Gazi University Hospital Pediatric Neurology Department between 2006 and 2015. Patients with perinatal asphyxia were excluded. Details of each patient's perinatal history, neurological outcome, epilepsy details, seizure outcome and EEG and brain MRI findings were reviewed...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28619364/outcome-of-arterial-ischemic-stroke-in-children-with-heart-disease
#11
María Vázquez López, Pedro de Castro de Castro, Estibaliz Barredo Valderrama, Ma Concepción Miranda Herrero, Nuria Gil Villanueva, Andrés J Alcaraz Romero, Samuel I Pascual Pascual
Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children. OBJECTIVE: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis. PATIENTS AND METHODS: We evaluated all children with heart disease who had suffered AIS between 2000 and 2014 in our hospital. RESULTS: Seventy-four children with heart disease suffered an arterial ischemic stroke...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28606752/how-does-the-interaction-of-presumed-timing-location-and-extent-of-the-underlying-brain-lesion-relate-to-upper-limb-function-in-children-with-unilateral-cerebral-palsy
#12
Lisa Mailleux, Katrijn Klingels, Simona Fiori, Cristina Simon-Martinez, Philippe Demaerel, Marlies Locus, Eva Fosseprez, Roslyn N Boyd, Andrea Guzzetta, Els Ortibus, Hilde Feys
BACKGROUND: Upper limb (UL) function in children with unilateral cerebral palsy (CP) vary largely depending on presumed timing, location and extent of brain lesions. These factors might exhibit a complex interaction and the combined prognostic value warrants further investigation. This study aimed to map lesion location and extent and assessed whether these differ according to presumed lesion timing and to determine the impact of structural brain damage on UL function within different lesion timing groups...
May 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28666648/morning-glory-disc-anomaly-with-an-ipsilateral-enlargement-of-the-optic-nerve-pathway
#13
D Thoma, I Nijs, P Demaerel, I Casteels
PURPOSE: To report three patients with an unilateral morning glory disc anomaly in association with an ipsilateral mild thickening of the optic nerve. METHODS: Three children with a morning glory disc anomaly underwent a magnetic resonance imaging (MRI) of the brain. Ophthalmological, genetic and MRI findings at follow-up are reported. A literature search on the association of morning glory anomaly in association with optic nerve glioma is reported.(1) RESULTS: Three children with an unilateral morning glory anomaly and ipsilateral poor visual acuity were found to have an ipsilateral mild optic nerve enlargement on brain MRI...
May 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28566192/association-of-a-synonymous-scn1b-variant-affecting-splicing-efficiency-with-benign-familial-infantile-epilepsy-bfie
#14
Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Uluc Yiş, Costin Leu, Janine Altmüller, Holger Thiele, Peter Nürnberg, Thomas Sander, S Hande Çağlayan
Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Genome-wide linkage analysis revealed significant evidence for linkage in the chromosomal region 19p12-q13 (LOD score 3...
May 13, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28532985/upper-limb-and-hand-patterns-in-cerebral-palsy-reliability-of-two-new-classifications
#15
E Chaleat-Valayer, R Bard-Pondarre, J C Bernard, F Roumenoff, A Lucet, A Denis, P Occelli, S Touzet
AIM: To evaluate the inter- and intra-rater reliability of two previously developed classifications of upper limb and hand patterns. METHOD: Two hundred and twelve films of patients with CP (118 of UL postures and 94 of hand tasks; median age 14, 3-46 years) were viewed by 18 examiners from 2 different rehabilitation centers, and one expert who had participated in the design of the classifications. They classed upper limb (3 patterns with sub-types) and hand patterns (2 patterns with subtypes) twice, at 2 months' interval...
May 10, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28549726/spasticity-dyskinesia-and-ataxia-in-cerebral-palsy-are-we-sure-we-can-differentiate-them
#16
H Eggink, D Kremer, O F Brouwer, M F Contarino, M E van Egmond, A Elema, K Folmer, J F van Hoorn, L A van de Pol, V Roelfsema, M A J Tijssen
OBJECTIVE: Cerebral palsy (CP) can be classified as spastic, dyskinetic, ataxic or combined. Correct classification is essential for symptom-targeted treatment. This study aimed to investigate agreement among professionals on the phenotype of children with CP based on standardized videos. METHODS: In a prospective, observational pilot study, videos of fifteen CP patients (8 boys, mean age 11 ± 5 y) were rated by three pediatric neurologists, three rehabilitation physicians and three movement disorder specialists...
May 9, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#17
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552318/author-s-response-extracerebral-thrombi-in-symptomatic-neonatal-arterial-ischemic-stroke
#18
LETTER
Joel Fluss, Stéphane Chabrier
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552317/extracerebral-thrombosis-in-symptomatic-neonatal-arterial-ischemic-stroke
#19
LETTER
Juan Arnaez, Alfredo Garcia-Alix
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28552316/reliability-in-cerebellar-size-assessment-by-2d-cranial-ultrasonography-in-neonates
#20
EDITORIAL
André M Graça
No abstract text is available yet for this article.
July 2017: European Journal of Paediatric Neurology: EJPN
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