journal
MENU ▼
Read by QxMD icon Read
search

European Journal of Paediatric Neurology: EJPN

journal
https://www.readbyqxmd.com/read/29773357/acute-transverse-myelitis-following-an-opsoclonus-myoclonus-syndrome-an-unusual-presentation
#1
Thomas Simon, Emmanuel Cheuret, Léa Fiedler, Catherine Mengelle, Eloïse Baudou, Kumaran Deiva
Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29778428/status-dystonicus-due-to-missense-variant-in-arx-diagnosis-and-management
#2
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29753614/a-22-year-follow-up-reveals-a-variable-disease-severity-in-early-onset-facioscapulohumeral-dystrophy
#3
Rianne J M Goselink, Caroline R van Kernebeek, Karlien Mul, Richard J L F Lemmers, Silvère M van der Maarel, Oebele F Brouwer, Nicol Voermans, George W Padberg, Corrie E Erasmus, Baziel G M van Engelen
AIM: To assess the long-term natural course of early-onset facioscapulohumeral dystrophy (FSHD), which is important for patient management and trial-readiness, and is currently lacking. METHODS: We had the unique opportunity to evaluate 10 patients with early-onset FSHD after 22 years follow-up. Patients underwent a semi-structured interview, physical examination and additional genotyping. RESULTS: Nine initial study participants (median age 37 years) were included, one patient died shortly after first publication...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29752145/cmt2-due-to-homozygous-mfn2-variants-is-a-multiorgan-mitochondrial-disorder
#4
LETTER
Josef Finsterer, Ana C Fiorini, Carla A Scorza, Fulvio A Scorza
No abstract text is available yet for this article.
April 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29748043/multiorgan-mitochondrial-dysfunction-is-not-a-main-feature-of-mfn2-mutations-reply-to-cmt2-due-to-homozygous-mfn2-variants-is-a-multiorgan-mitochondrial-disorder
#5
LETTER
Pasquale Striano, Giulia Iapadre, Maria Stella Vari, Alberto Verrotti
No abstract text is available yet for this article.
April 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29759327/immunotherapy-responsive-childhood-neurodegeneration-with-systemic-and-central-nervous-system-inflammation
#6
Mario Sa, Yael Hacohen, Lucy Alderson, W K Kling Chong, Glenn Anderson, Thomas S Jacques, David Neubauer, Elzbieta Szczepanik, Ming Lim, Marios Kaliakatsos
Subacute neuroregression in association with raised neopterin and overexpression of interferon stimulated genes (ISGs) could indicate a type 1 interferonopathy. Here we describe a novel immunotherapy-responsive, clinico-immunological and imaging phenotype with evidence of innate immune activation. Three children (patient 1: 22-month-old boy; patient 2: 5-year-old girl; patient 3: 4-year-old girl) presented with asymmetric bilateral mixed dystonia and spasticity, regression in language (expressive more than receptive) and bulbar symptoms with no evidence of seizures...
April 27, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29739701/early-identification-of-epileptic-encephalopathy-with-continuous-spikes-and-waves-during-sleep-a-case-control-study
#7
Camille Desprairies, Blandine Dozières-Puyravel, Adina Ilea, Vanina Bellavoine, Hala Nasser, Catherine Delanöe, Stéphane Auvin
Epileptic encephalopathy with continuous spikes-and-waves during sleep (EE-CSWS) is a rare childhood epilepsy syndrome characterized by a regression in cognitive, behavioral and psychiatric functioning, seizures and a specific electroencephalographic pattern. An early recognition and an appropriate treatment might play a key role in the outcome of this epileptic encephalopathy. We conducted a case-control study to evaluate if there is any clinical or electroencephalographic sign suggestive of EE-CSWS after the first seizure...
April 27, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29731328/intracranial-hemorrhage-in-neonates-a-review-of-etiologies-patterns-and-predicted-clinical-outcomes
#8
REVIEW
Ai Peng Tan, Patricia Svrckova, Frances Cowan, Wui Khean Chong, Kshitij Mankad
Intracranial hemorrhage (ICH) in neonates often results in devastating neurodevelopmental outcomes as the neonatal period is a critical window for brain development. The neurodevelopmental outcomes in neonates with ICH are determined by the maturity of the brain, the location and extent of the hemorrhage, the specific underlying etiology and the presence of other concomitant disorders. Neonatal ICH may result from various inherited and acquired disorders. We classify the etiologies of neonatal ICH into eight main categories: (1) Hemorrhagic stroke including large focal hematoma, (2) Prematurity-related hemorrhage, (3) Bleeding diathesis, (4) Genetic causes, (5) Infection, (6) Trauma-related hemorrhage, (7) Tumor-related hemorrhage and (8) Vascular malformations...
April 24, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29778429/outcomes-following-severe-hand-foot-and-mouth-disease-a-systematic-review-and-meta-analysis
#9
Eben Jones, Timesh D Pillay, Fengfeng Liu, Li Luo, Juan Carlos Bazo-Alvarez, Chen Yuan, Shanlu Zhao, Qi Chen, Yu Li, Qiaohong Liao, Hongjie Yu, H Rogier van Doorn, Saraswathy Sabanathan
BACKGROUND: Hand, foot and mouth disease (HFMD) caused by enterovirus A71 (EV-A71) is associated with acute neurological disease in children. This study aimed to estimate the burden of long-term sequelae and death following severe HFMD. METHODS: This systematic review and meta-analysis pooled all reports from English and Chinese databases including MEDLINE and Wangfang on outbreaks of clinically diagnosed HFMD and/or laboratory-confirmed EV-A71 with at least 7 days' follow-up published between 1st January 1966 and 19th October 2015...
April 20, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29709428/developmental-outcome-in-a-group-of-twins-relation-to-perinatal-factors-and-general-movements
#10
Tamara Dostanic, Breda Sustersic, Darja Paro-Panjan
BACKGROUND: The quality of general movements (GMs) has proven to have predictive value for the developmental outcome, but this has not yet been studied in twins. AIMS: Our aim was to analyse the quality of GMs and neurological and developmental outcome in relation to the gestational age (GA), mode of conception and other perinatal risk factors in a group of twins. STUDY DESIGN: The documentation of twins referred for follow-up in the period from 1998 to 2016 was studied retrospectively...
April 20, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29730165/impact-of-hematopoietic-stem-cell-transplant-on-vep-and-abr-values-of-the-patients-with-malignant-infantile-osteopetrosis
#11
Reza Shervin Badv, S Sharareh Dehghani, Maryam Behfar, Batoul Ahadi, Abdolreza Tabasi, Amir Ali Hamidieh
OBJECTIVES: Malignant Infantile Osteopetrosis (MIOP) is a rare inherited disorder with neurological complications, notably visual impairment and decrease of hearing level. Although Hematopoietic Stem Cell Transplantation (HSCT) has been approved as the only curative treatment for these patients, the exact impact of it on visual and hearing level is still unclear. STUDY DESIGN: We analyzed the P2 latency and amplitude from Visual Evoked Potentials (VEP) of 10 patients (20 eyes) and the threshold of wave V from Auditory Brainstem Response (ABR) of 15 patients (30 ears) with MIOP before, 6 and 12 months after HSCT...
April 18, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29735386/neurobehavioural-outcome-in-6-18-year-old-children-after-trauma-in-pregnancy-case-control-study
#12
B J van der Knoop, K J Oostrom, I A Zonnenberg, M M van Weissenbruch, R J Vermeulen, J I P de Vries
BACKGROUND: Maternal trauma complicates pregnancy in approximately 7%. Long-term development of children exposed to maternal trauma is unknown. AIM: To determine neurobehavioural outcome of children (6-18 years) born after maternal trauma in pregnancy compared to a matched control group. STUDY DESIGN: Case-control study performed at a tertiary medical centre. SUBJECTS: All consecutive children born after maternal hospitalization for trauma during pregnancy between 1995 and 2005...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29709429/mild-ventriculomegaly-from-fetal-consultation-to-neurodevelopmental-assessment-a-single-center-experience-and-review-of-the-literature
#13
Barbara Scelsa, Mariangela Rustico, Andrea Righini, Cecilia Parazzini, Marina Antonella Balestriero, Paola Introvini, Luigina Spaccini, Massimo Mastrangelo, Gianluca Lista, Gian Vincenzo Zuccotti, Pierangelo Veggiotti
OBJECTIVE: The aim of our study was to determine the outcome of fetuses with isolated mild ventriculomegaly, with prenatal imaging work-up, prenatal consultation, delivery and clinical follow-up performed in a single tertiary referring center. METHODS: Fetuses with isolated and non-progressive mild ventriculomegaly (10-15 mm) were included in the study. Inclusion criteria were as follows: singleton pregnancies, normal chromosomal analysis, normal serological evaluation of TORCH, fetal ultrasound and MRI excluding additional CNS or extra-CNS malformations...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29709427/abcc6-mutations-and-early-onset-stroke-two-cases-of-a-typical-pseudoxanthoma-elasticum
#14
Marta Bertamino, Mariasavina Severino, Alice Grossi, Marta Rusmini, Domenico Tortora, Carlo Gandolfo, Silvia Pederzoli, Clara Malattia, Paolo Picco, Pasquale Striano, Isabella Ceccherini, Maja Di Rocco
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by fragmented and mineralized elastic fibers in the mid-dermis of the skin, eye, digestive tract and cardiovascular system. Clinical presentation includes typical skin lesions, ocular angioid streaks, and multisystem vasculopathy. The age of onset varies considerably from infancy to old age, but the diagnosis is usually made in young adults due to frequent absence of pathognomonic skin and ocular manifestations in early childhood. We report two children with PXE presenting with isolated multisystem vasculopathy and early-onset stroke...
April 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#15
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
April 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29680266/physiological-movement-disorder-like-features-during-typical-motor-development
#16
M J Kuiper, R Brandsma, L Vrijenhoek, M A J Tijssen, H Burger, B Dan, D A Sival
AIM: To compare physiological age-relatedness between dyskinesia (dystonia/choreoathetosis), dystonia and ataxia rating scale scores in healthy children. METHOD: Three movement disorders specialists quantified dyskinetic-like features in healthy children (n = 52; 4-16 years) using the Dyskinesia Impairment Scale (DIS = DIS-choreoathetosis (DIS-C) + DIS-dystonia (DIS-D)). We compared the age-related regression coefficients of the DIS with data processed from previous studies on dystonia and ataxia rating scales (Burke-Fahn-Marsden Movement and Disability Scales (BFMMS and BFMDS) and Scale for Assessment and Rating of Ataxia (SARA), International Cooperative Ataxia Rating Scale (ICARS) and Brief Ataxia Rating Scale (BARS))...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29661537/pyridoxine-dependent-epilepsy-is-late-onset-a-predictor-for-favorable-outcome
#17
Rooy Rlp de, F J Halbertsma, E A Struijs, Spronsen Fj van, R J Lunsing, H M Schippers, Hasselt Pm van, B Plecko, G Wohlrab, S Whalen, J F Benoist, S Valence, P B Mills, L A Bok
AIM: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients. METHODS: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29656928/benign-paroxysmal-migraine-variants-of-infancy-and-childhood-transitions-and-clinical-features
#18
Jacob Brodsky, Karampreet Kaur, Talia Shoshany, Sophie Lipson, Guangwei Zhou
INTRODUCTION: Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM). METHODS: We retrospectively reviewed the medical records of patients seen at the Balance and Vestibular Program at Boston Children's Hospital between January 2012 and December 2016 who were diagnosed with BPTI, BPVC, and/or VM...
March 30, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29628153/letter-to-the-editor-in-reply-to-sansone-et-al
#19
LETTER
T Langer, A Pechmann, S Wider, J Kirschner
No abstract text is available yet for this article.
March 29, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29627308/function-in-unaffected-arms-of-children-with-obstetric-brachial-plexus-palsy
#20
Dilek Aktaş, Beyhan Eren, Özge Keniş-Coşkun, Evrim Karadag-Saygi
OBJECTIVE: The objective is to compare the fine and gross motor function of unaffected arms of children with obstetric brachial plexus palsy (OBBP) with typically developing children's dominant upper extremities. METHODS: Fifty-three patients with OBBP and fifty-one typically developing children between the age of 4 and 13 were included in the study. For gross motor function evaluation in the upper extremity box-block test (BBT), for fine motor skill nine-hole peg (9HP) test was used...
March 26, 2018: European Journal of Paediatric Neurology: EJPN
journal
journal
32862
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"