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European Journal of Paediatric Neurology: EJPN

Eduardo F Tizzano, Dimitrios Zafeiriou
With the recent advances in spinal muscular atrophy therapies, the complete scenario of standard of care and following up is changing not only in the clinical field with new phenotypes emerging but also with new expectations for patients, caregivers and health providers. The actual evidence indicates that early intervention and treatment is crucial for better response and prognosis. Knowledge of the prenatal and pre-symptomatic postnatal stages of the disease are becoming essential to consider the opportunities of timely diagnosis and to decide the earliest therapeutic intervention...
September 3, 2018: European Journal of Paediatric Neurology: EJPN
Zvi Leibovitz, Laurent Guibaud, Catherine Garel, Mona Massoud, Katrin Karl, Gustavo Malinger, Karina K Haratz, Liat Gindes, Mordechai Tamarkin, Liat Ben-Sira, Dorit Lev, Josef Shalev, Marie Brasseur-Daudruy, Carlos Andrés Contreras Gutierrez de Piñeres, Tally Lerman-Sagie
OBJECTIVES: To describe a unique posterior fossa neuroimaging characteristic of prenatal PHACES syndrome (PS): unilateral cerebellar hypoplasia (UCH) and ipsilateral posterior fossa (PF) cyst communicating with an asymmetrically distended 4th ventricle. METHODS: The registries of seven prenatal diagnosis centers were searched for cases with PF findings and a postnatal diagnosis of PS. All records were evaluated for ultrasound and MRI findings and the postnatal outcome...
September 1, 2018: European Journal of Paediatric Neurology: EJPN
Nicola Tambasco, Federico Paolini Paoletti, Giulia Prato, Maria Margherita Mancardi, Paolo Prontera, Lucio Giordano, Salvatore Grosso, Antonino Romeo, Francesca Pinto, Salvatore Savasta, Cinzia Peruzzi, Michele Romoli, Pasquale Striano, Alberto Verrotti, Vincenzo Belcastro
INTRODUCTION: Shapiro syndrome (SS) is characterized by spontaneous recurrent episodes of hypothermia, hyperhidrosis and corpus callosum (CC) agenesis. Less than 60 cases have been reported to date and the pathogenic mechanism as well as the prognosis of this syndrome are still debated. We describe the clinical features and long-term follow-up of a pediatric cohort of SS patients. METHODS: We collected 13 (10 novel) pediatric cases of SS and report their long-term follow-up and neurological outcome...
August 29, 2018: European Journal of Paediatric Neurology: EJPN
Ruxandra-Iulia Milos, Martin Szimacsek, Fritz Leutmezer, Kevin Rostasy, Astrid Blaschek, Michael Karenfort, Mareike Schimmel, Martin Pritsch, Karin Storm Van's Gravesande, Michael Weber, Michaela Schmoeger, Rainer Seidl, Daniela Prayer, Barbara Kornek
BACKGROUND: The diagnosis of multiple sclerosis (MS) both in children and adults is based on clinical and magnetic resonance imaging (MRI) features according to the McDonald criteria. Little is known about differences in the presentation between pre-pubertal children, adolescents, and adult patients at disease onset. OBJECTIVE: To compare (1) the clinical, cerebrospinal fluid (CSF), and MRI characteristics, and (2) the diagnostic performance of the 2010 McDonald criteria between pre-pubertal, adolescent, and adult patients with a clinically isolated syndrome (CIS)...
August 28, 2018: European Journal of Paediatric Neurology: EJPN
T Michael Yates, Mohnish Suri, Archana Desurkar, Gaetan Lesca, Carina Wallgren-Pettersson, Trine B Hammer, Ashok Raghavan, Anne-Lise Poulat, Rikke S Møller, Ann-Charlotte Thuresson, Meena Balasubramanian
We aim to further delineate the phenotype associated with pathogenic variants in the SLC35A2 gene, and review all published literature to-date. This gene is located on the X chromosome and encodes a UDP-galactose transporter. Pathogenic variants in SLC35A2 cause a congenital disorder of glycosylation. The condition is rare, and less than twenty patients have been reported to-date. The phenotype is complex and has not been fully defined. Here, we present a series of five patients with de novo pathogenic variants in SLC35A2...
August 27, 2018: European Journal of Paediatric Neurology: EJPN
Federica Ricci, Chiara Brusa, Francesca Rossi, Enrica Rolle, Valeria Placentino, Angela Berardinelli, Veronica Pagliardini, Francesco Porta, Marco Spada, Tiziana Mongini
BACKGROUND: Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. The disease clinical spectrum ranges from severe infantile forms to adult-onset forms with minor limitations. Since 2000 enzyme replacement therapy (ERT) is available and disease natural history has changed, with prolonged survival and evidence of myopathic features. METHODS: In this study, we monitored disease progression up to three years in eight young patients with PD...
August 18, 2018: European Journal of Paediatric Neurology: EJPN
Roderick P P W M Maas, Erik-Jan Kamsteeg, Salvatore Mangano, María Esther Vázquez López, Joost Nicolai, Kenneth Silver, Emilio Fernández-Alvarez, Michèl A A P Willemsen
OBJECTIVE: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. METHODS: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae...
August 15, 2018: European Journal of Paediatric Neurology: EJPN
Emmanuel Rault, Audrey Lacalm, Mona Massoud, Jérome Massardier, Federico Di Rocco, Pascal Gaucherand, Laurent Guibaud
OBJECTIVE: To describe the different prenatal imaging patterns related to primary aqueduct obstruction throughout pregnancy and their impact on prenatal counseling. METHOD: Retrospective review of consecutive prenatal cases of isolated aqueduct obstruction diagnosed over a seven-year period (2010-2016). Prenatal imaging findings, postnatal imaging, pathological data and postnatal outcome, were analyzed. RESULTS: Twelve cases were included...
August 10, 2018: European Journal of Paediatric Neurology: EJPN
Sophie Calvert, Katie Barwick, Melody Par, Kah Ni Tan, Karin Borges
AIM: Despite antiepileptic medication and dietary treatment options available about 45% of children with epilepsy still suffer from uncontrolled seizures. Triheptanoin is an anaplerotic treatment designed to improve energy generation via the Krebs cycle. METHOD: For the first time, we evaluated the feasibility, tolerability and efficacy of add-on triheptanoin in 12 patients with medically refractory epilepsy (seven males, five females; min-max: 3-18yr, median 13...
August 7, 2018: European Journal of Paediatric Neurology: EJPN
Juliana T Pacheco, Timo Siepmann, Jessica Barlinn, Simon Winzer, Ana Isabel Penzlin, Volker Puetz, Maja von der Hagen, Kristian Barlinn
BACKGROUND AND PURPOSE: Safety and efficacy of intravenous (IV) thrombolysis and endovascular therapy in children with acute ischemic stroke (AIS) are unknown to date. We aimed to review and synthesize currently available evidence on these acute recanalization therapies in pediatric stroke patients. METHODS: We performed a systematic review and meta-analysis of all available data on safety and efficacy of acute treatment including thrombolysis and endovascular therapy in pediatric AIS patients aged <18 years...
August 7, 2018: European Journal of Paediatric Neurology: EJPN
Mona Massoud, Laurent Guibaud
With advances in fetal imaging, prenatal diagnosis of posterior fossa anomalies has been greatly improved. Based on the anatomical approach proposed by Guibaud and Desportes in 2006, the main anomalies depicted according to the algorithm includes: (1) increased "fluid-filled" space of the posterior fossa, (2) abnormal biometry of the cerebellum, and (3) abnormal cerebellar anatomy. In this review, the spectrum of PF anomalies is covered in an attempt to update this approach in the light of both our experience, more than a decade since this algorithm was published, and the latest data in the literature...
August 2, 2018: European Journal of Paediatric Neurology: EJPN
Shiri Shinar, Tally Lerman-Sagie, Monica Echevarria Telleria, Fernando Viñals, Raquel García, Hector Quiroga, Carmina Bermejo, Liat Ben-Sira, Zvika Leibovitz, Joseph Har-Toov, Gustavo Malinger
INTRODUCTION: Pericallosal lipomas (PCL) are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum (CC). The lipomas are usually diagnosed prenatally during the third trimester. The purpose of this study was to identify 2nd trimester ultrasound findings that may hint to a later diagnosis of PCL and to evaluate their MRI evolution. METHODS: A multicenter study of fetuses diagnosed during the 3rd trimester with a PCL in 7 fetal ultrasound units between 2001 and 2017...
August 2, 2018: European Journal of Paediatric Neurology: EJPN
Andreea Nissenkorn, Tomer Erlich, Dorit E Zilberman, Ifat Sarouk, Alexander Krauthammer, Noam D Kitrey, Gali Heimer, Bruria BenZeev, Yoram Mor
BACKGROUND: Ataxia telangiectasia (AT) is a neurodegenerative cerebellar disorder, caused by mutations in the ATM gene, involved in DNA repair. Radiosensitivity, progressive ataxia, immune deficiency and malignancies, are well known symptoms, but urological manifestations are scarcely described. OBJECTIVE: To characterize urologic manifestations in a large cohort of AT patients. METHODS: Retrospective cross-sectional chart study comprising 52 AT patients followed at a National AT Center...
July 26, 2018: European Journal of Paediatric Neurology: EJPN
Ronen Hady-Cohen, Hila Ben-Pazi, Vardit Adir, Keren Yosovich, Luba Blumkin, Tally Lerman-Sagie, Dorit Lev
In 2003, a new syndrome was described in the Sephardi Jewish population, named progressive cerebello-cerebral atrophy (PCCA) based on the typical neuroradiological findings. Following the identification of the causal genes in 2010 and 2014, two types were defined: PCCA type 1 due to SEPSECS mutations and PCCA type 2 due to VPS53 mutations. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) was described in 1991 in Finland. The clinical and radiological phenotype resembles PCCA. The genetic background has been elusive for many years...
July 26, 2018: European Journal of Paediatric Neurology: EJPN
Marie-Laure Mathieu, Julitta de Bellescize, Marianne Till, Vincent Flurin, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Nicole Chemaly, Vincent des Portes, Karine Ostrowsky, Alexis Arzimanoglou, Gaëtan Lesca
Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. Electrical status epilepticus in sleep (ESES) has been reported in two patients. We describe five male patients from three unrelated families with Christianson syndrome caused by a pathogenic nucleotide variation or a copy-number variation involving SLC9A6. ESES was present in three out of the five patients in the critical age window between 4 and 8 years...
July 21, 2018: European Journal of Paediatric Neurology: EJPN
R Martín-Valero, J Vega-Ballón, V Perez-Cabezas
Children with cerebral palsy display disorders in pelvic movement and require effective rehabilitation. There is evidence to support the hippotherapy due to improvements in balance. The aim of this narrative review was to summarise the grades of recommendation regarding the benefits of hippotherapy in children with cerebral palsy. DATA SOURCES AND EXTRACTION: We searched electronic databases, limiting the searches to studies published between 2004 and February 2017. The selected documents were classified according to the strength of recommendation provided by Duodecim (the Finnish medical society)...
July 10, 2018: European Journal of Paediatric Neurology: EJPN
Tülay Kamaşak, Cengiz Havalı, Hülya İnce, İlker Eyüboğlu, Alper Han Çebi, Sevim Sahin, Ali Cansu, Kursad Aydin
BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature...
July 9, 2018: European Journal of Paediatric Neurology: EJPN
Michael Siniatchkin, Jan Moehring, Bianca Kroeher, Andreas Galka, Gisela von Ondarza, Friederike Moeller, Stephan Wolff, Enzo Tagliazucchi, Elisabeth Steinmann, Rainer Boor, Ulrich Stephani
OBJECTIVE: Multifocal epileptic activity is an unfavourable feature of a number of epileptic syndromes (Lennox-Gastaut syndrome, West syndrome, severe focal epilepsies) which suggests an overall vulnerability of the brain to pathological synchronization. However, the mechanisms of multifocal activity are insufficiently understood. This explorative study investigates whether pathological connectivity within brain areas of the default mode network as well as thalamus, brainstem and retrosplenial cortex may predispose individuals to multifocal epileptic activity...
July 5, 2018: European Journal of Paediatric Neurology: EJPN
Darcy A Krueger, Jamie K Capal, Paolo Curatolo, Orrin Devinsky, Kevin Ess, Michal Tzadok, Mary K Koenig, Vinodh Narayanan, Federico Ramos, Sergiusz Jozwiak, Petrus de Vries, Anna C Jansen, Michael Wong, David Mowat, John Lawson, Stephanie Bruns, David Neal Franz
OBJECTIVE: To evaluate the safety of mTOR inhibitors (sirolimus or everolimus) in infants and very young children with tuberous sclerosis complex (TSC) under two years of age. METHODS: Study design was retrospective to capture medical record data from 52 international TSC Centres who initiated treatment with sirolimus or everolimus in TSC children before the age of two years. Data collection included demographic and clinical information including reason(s) for initiating treatment with mTOR inhibitors, treatment duration, dosing, and corresponding serum trough levels, response to treatment, and adverse events (AE)...
July 4, 2018: European Journal of Paediatric Neurology: EJPN
Irene Toldo, Claudia Maria Bonardi, Elisa Bettella, Roberta Polli, Giacomo Talenti, Alberto Burlina, Stefano Sartori, Alessandra Murgia
BACKGROUND: The ALDH7A1 gene is known to be responsible for autosomal recessive pyridoxine-dependent epilepsy (OMIM 266100). The phenotypic spectrum of ALDH7A1 mutations is very heterogeneous ranging from refractory epilepsy and neurodevelopmental delay, to multisystem neonatal disorder. AIM: The present study aims at describing the phenotype associated with a novel homozygous ALDH7A1 mutation and the spectrum of brain malformations associated with pyridoxine-dependent epilepsy...
July 3, 2018: European Journal of Paediatric Neurology: EJPN
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