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European Journal of Paediatric Neurology: EJPN

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https://www.readbyqxmd.com/read/28442211/leigh-like-neuroimaging-features-associated-with-new-biallelic-mutations-in-opa1
#1
Anna Rubegni, Tiziana Pisano, Giacomo Bacci, Alessandra Tessa, Roberta Battini, Elena Procopio, Sabrina Giglio, Rosa Pasquariello, Filippo Maria Santorelli, Renzo Guerrini, Claudia Nesti
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1. We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy...
April 15, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28433244/reliability-in-cerebellar-size-assessment-by-2d-cranial-ultrasonography-in-neonates
#2
María Carmen Bravo, Eva Valverde
BACKGROUND: Cerebellar size appears to be correlated with the long-term outcome of preterm infants. Two-dimensional cranial ultrasonography (2D-cUS) is the first-line, routine tool to characterize newborn cerebral structures. Information regarding the accuracy of 2D-cUS for assessing cerebellar size is scarce. OBJECTIVES: To assess the reliability of cerebellar size using 2D-cUS. METHODS: Fifty infants were prospectively scanned for a variety of clinical indications...
April 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28389060/paraneoplastic-limbic-encephalitis-with-sox1-and-pca2-antibodies-and-relapsing-neurological-symptoms-in-an-adolescent-with-hodgkin-lymphoma
#3
M Kunstreich, J H Kreth, P T Oommen, J Schaper, M Karenfort, O Aktas, D Tibussek, F Distelmaier, A Borkhardt, M Kuhlen
BACKGROUND: Immune cross-reactivity between malignant and normal tissues causes the rare, so called paraneoplastic syndrome (PS). In approximately 60% of the patients, various onconeural antibodies are detectable in the cerebrospinal fluid (CSF) and are associated with typical tumour entities. METHODS: We report an unusual case of paraneoplastic limbic encephalitis (PLE) in a 17-year-old adolescent with classical Hodgkin lymphoma. RESULTS: He presented with a variety of neurologic and neuropsychiatric symptoms, profound B-symptoms and typical MRI findings including hyperintense lesions with contrast enhancement in the medial temporal lobe and limbic system...
March 27, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28392227/assessing-mental-health-in-boys-with-duchenne-muscular-dystrophy-emotional-behavioural-and-neurodevelopmental-profile-in-an-italian-clinical-sample
#4
Paola Colombo, Maria Nobile, Alessandra Tesei, Federica Civati, Sandra Gandossini, Elisa Mani, Massimo Molteni, Nereo Bresolin, Grazia D'Angelo
OBJECTIVE: To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype. METHOD: 47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features...
March 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28389061/mitochondrial-diagnosis-revisited
#5
LETTER
N C Lagan, K M Gorman, M D King
No abstract text is available yet for this article.
March 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28365092/cardiac-injury-after-convulsive-status-epilepticus-in-children
#6
Doaa El Amrousy, Maher Abd El-Hafez, Mohamed Nashat, Hossam Hodeib
OBJECTIVE: Convulsive status epilepticus (CSE) is a medical emergency with high mortality that usually occurs within 30 days following the seizure activity. One of the potential mechanisms contributing to mortality in this period following CSE is cardiac injury. The aim of the present study was to evaluate cardiac injury after CSE in children. PATIENTS AND METHODS: Sixty children presented with CSE were enrolled in this study. Thirty healthy children with matched age and sex were taken as a control...
March 22, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28372940/clonidine-use-in-the-outpatient-management-of%C3%A2-severe-secondary-dystonia
#7
C Sayer, D E Lumsden, M Kaminska, J-P Lin
OBJECTIVE: To evaluate the safety, efficacy and effective dosage of clonidine in the outpatient (OP) management of secondary dystonia. METHODS: A retrospective analysis of children and young people (CAYP) prescribed clonidine in an OP clinic between January 2011 and November 2013 for dystonia management. Of 224 children receiving clonidine, 149/224 did not have a movement disorder and 12/224 had no data leaving 63 movement disorder cases, 15/63 managed as in-patients, 15/48 suffered from tics leaving 33/63 for OP evaluation...
March 14, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28274546/long-term-outcome-of-patients-with-x-linked-adrenoleukodystrophy-a-retrospective-cohort-study
#8
Christel Tran, Jaina Patel, Hewson Stacy, Eva G Mamak, Hanna Faghfoury, Julian Raiman, Joe T R Clarke, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. METHOD: All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment...
February 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28283371/chiari-like-displacement-due-to-spontaneous-intracranial-hypotension-in-an-adolescent-successful-treatment-by-epidural-blood-patch
#9
Jan Schönberger, Markus Möhlenbruch, Angelika Seitz, Cornelia Bußmann, Heidi Bächli, Stefan Kölker
BACKGROUND: Spontaneous intracranial hypotension is a rarely diagnosed cause of headache, especially in children and adolescents. It is due to cerebrospinal fluid (CSF) leakage via spinal fistulae occurring without major trauma. CASE PRESENTATION: An adolescent patient presented with a 3-month history of strictly postural headache. Cranial magnetic resonance imaging (MRI) showed pronounced Chiari-like prolapse of the cerebellar tonsils, narrow ventricles and enlarged cerebral veins...
February 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28259452/effects-of-functional-level-on-balance-in-children-with-duchenne-muscular-dystrophy
#10
Halil Alkan, Akmer Mutlu, Tüzün Fırat, Numan Bulut, Aynur Ayşe Karaduman, Öznur Tunca Yılmaz
INTRODUCTION: This study was planned to compare the static and dynamic balance in children with Duchenne Muscular Dystrophy (DMD) at different functional levels with each other and with healthy peers. MATERIAL AND METHODS: Sixty nine children between the ages of 6 and 11 were included in this study where 52 of them were diagnosed with DMD in Level I (18 patients), Level II (17 patients), and Level III (17 patients) according to Brooke Functional Classification Scale and 17 of them healthy peers were included...
February 20, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28284887/downbeat-nystagmus-due-to-ranitidine-in-a%C3%A2-pediatric-patient
#11
Laura Butragueño Laiseca, Blanca Toledo Del Castillo, Cristina Rodríguez Jimenez, Silvia Manrique-Rodríguez, Jimena Pérez Moreno
BACKGROUND: Ranitidine has not been considered as a potential cause of ocular movement conditions. However, it is known that the vestibular nucleus complex, that has a key role in gaze control and vestibule-ocular reflexes, receives hypothalamic histaminergic innervations. Some studies reported the effect of ranitidine blocking the excitatory responses of vestibular nuclei neurons to histamine. CASE REPORT: We report the first case of a downbeat nystagmus secondary to ranitidine in an infant...
February 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28433234/response-to-sleep-and-executive-functions-in-children-with-adhd
#12
LETTER
Rocio Sanchez-Carpintero
No abstract text is available yet for this article.
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28433233/vagus-nerve-stimulation-in-children-a-focus-on-intellectual-disability
#13
EDITORIAL
Zvonka Rener-Primec
No abstract text is available yet for this article.
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28433232/risk-factors-for-psychiatric-and-behavioural-adverse-events-associated-with-antiepileptic-drugs-in-adolescents-and-children
#14
EDITORIAL
Frank M C Besag
No abstract text is available yet for this article.
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#15
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28238621/psychiatric-and-behavioral-side-effects-of-anti-epileptic-drugs-in-adolescents-and-children-with-epilepsy
#16
B Chen, K Detyniecki, H Choi, L Hirsch, A Katz, A Legge, R Wong, A Jiang, R Buchsbaum, P Farooque
PURPOSE: The objective of the study was to compare the psychiatric and behavioral side effect (PBSE) profiles of both older and newer antiepileptic drugs (AEDs) in children and adolescent patients with epilepsy. METHOD: We used logistic regression analysis to test the correlation between 83 non-AED/patient related potential predictor variables and the rate of PBSE. We then compared for each AED the rate of PBSEs and the rate of PBSEs that led to intolerability (IPBSE) while controlling for non-AED predictors of PBSEs...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28238620/coexistence-of-childhood-absence-epilepsy-and-benign-epilepsy-with-centrotemporal-spikes-a-case-series
#17
Alberto Verrotti, Sara Casciato, Alberto Spalice, Marco Carotenuto, Pasquale Striano, Pasquale Parisi, Nelia Zamponi, Salvatore Savasta, Victoria Elisa Rinaldi, Renato D'Alonzo, Federico Mecarini, Anthony J Ritaccio, Giancarlo Di Gennaro
AIM: Childhood absence epilepsy (CAE) and benign childhood epilepsy with centrotemporal spikes (BECTS) are the most common forms of childhood epilepsy. Recent studies in animal models suggest that the two phenotypes may represent a neurobiological continuum. Although the coexistence of CAE and BECTS has been reported, this issue remains controversial. The purpose of this study was to analyse the electro-clinical characteristics of a group of children with contemporary or subsequent features of absence seizures and focal seizures consistent with BECTS...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28237421/theory-of-mind-emotional-and-social-functioning-and-motor-severity-in-children-and-adolescents-with-dystonic-cerebral-palsy
#18
Dolapo Adegboye, Annette Sterr, Jean-Pierre Lin, Tamsin J Owen
AIMS: This cross-sectional study aimed to investigate whether children and adolescents with dystonic cerebral palsy (CP) present with emotional and social difficulties along side motor limitations. PARTICIPANTS/MEASURES: Twenty-two verbal and nonverbal children and adolescents with dystonic CP were compared with a normative sample of twenty children and adolescents on measures of theory of mind (ToM), emotion regulation (ER), and social difficulties (SD). RESULTS: Higher social and emotional difficulties were found in the dystonic CP group compared to the control group...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28237420/long-term-therapy-with-intrathecal-baclofen-improves-quality-of-life-in-children-with-severe-spastic-cerebral-palsy
#19
Tanja Kraus, Kathrin Gegenleitner, Martin Svehlik, Michael Novak, Gerhardt Steinwender, Georg Singer
INTRODUCTION: Children with severe spastic cerebral palsy (CP) are highly limited in daily life activities causing a reduced quality of life (QoL). This is partly due to an increased muscle tone causing pain and contractures. Continuous intrathecal infusion of baclofen (ITB) reduces the spasticity of affected patients. The hypothesis of the present study was that ITB leads to a significant improvement of QoL in non-ambulant children with CP. PATIENTS AND METHODS: 13 patients (10 male, 3 female, mean age 14 years) were included...
May 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28237419/acute-flaccid-weakness-associated-with-enterovirus-d68
#20
LETTER
Jelte Helfferich, Linda C Meiners, Oebele F Brouwer
No abstract text is available yet for this article.
May 2017: European Journal of Paediatric Neurology: EJPN
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