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Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review Neuropediatrics (IF 1.4) Pub Date : 2024-03-06
Foramina parietalia permagna (FPP) is a rare anatomical defect that affects the parietal bones of the human skull. FPP is characterized by symmetric perforations on either side of the skull, which are caused by insufficient ossification during embryogenesis. These openings are typically abnormally large and can range from a few millimeters to several centimeters in diameter. Enlarged foramina are often
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Reduced Interhemispheric Coherence and Cognition in Children with Fetal Alcohol Spectrum Disorder (FASD)—A Quantitative EEG Study Neuropediatrics (IF 1.4) Pub Date : 2024-03-06 Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes
Background Magnetic resonance imaging in fetal alcohol spectrum disorder (FASD) children showed altered connectivity, suggesting underlying deficits in networks, which may be related to cognitive outcome. Functional connectivity has been of interest in neurophysiological research with quantitative electroencephalography (QEEG) as useful tool for measuring pathology, not detectable by normal EEG. The
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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives Neuropediatrics (IF 1.4) Pub Date : 2024-02-16
PGAP2 gene has been known to be the cause of “hyperphosphatasia, mental retardation syndrome-3” (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2-mutated case, intending to further expand the clinical phenotype
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STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients Neuropediatrics (IF 1.4) Pub Date : 2024-02-16 Momen Almomen, Fawzia Amer, Fatima Alfaraj, Patrick G. Burgon, Shahid Bashir, Fouad Alghamdi
STAC3-related myopathy, or Native American myopathy (NAM), is a genetically inherited, autosomal recessive muscle disease that was first described in a Native American by Bailey and Bloch in 1987. NAM is characterized by hypotonia, micrognathia, muscle weakness, arthrogryposis, cleft palate, susceptibility to malignant hyperthermia (MH), and myopathic facies. Since the first description of NAM, more
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Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature Neuropediatrics (IF 1.4) Pub Date : 2024-02-16 Sibel Öz Yıldız, Dilek Yalnızoğlu, Pelin Özlem Şimsek Kiper, Rahşan Göçmen, Merve Soğukpınar, Gülen Eda Utine, Göknur Haliloğlu
ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course
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Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity Neuropediatrics (IF 1.4) Pub Date : 2024-02-16 Lev Grinstein, Laura Hecher, Deike Weiss, Jessika Johannsen, Jonas Denecke
Introduction We report a case study of two male pediatric patients presenting with anterior uveitis and elevated renal function parameters. Both were diagnosed with tubulointerstitial nephritis and uveitis syndrome and subsequently developed diffuse cerebral symptoms such as headache, fatigue, and diziness. Methods Magnetic resonance images (MRIs) of the brain showed T2-hyperintense lesions with and
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A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism Neuropediatrics (IF 1.4) Pub Date : 2024-02-14
Biallelic variants in PTRHD1 have been associated with autosomal recessive intellectual disability, spasticity, and juvenile Parkinsonism, with few reported cases. Here, we present the clinical and genetic findings of a female of Austrian origin exhibiting infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, consistent with the established
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A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism Neuropediatrics (IF 1.4) Pub Date : 2024-02-12 Johannes Gebert, Theresa Brunet, Matias Wagner, Jakob Rath, Susanne Aull-Watschinger, Ekaterina Pataraia, Martin Krenn
Biallelic variants in PTRHD1 have been associated with autosomal recessive intellectual disability, spasticity, and juvenile Parkinsonism, with few reported cases. Here, we present the clinical and genetic findings of a female of Austrian origin exhibiting infantile neurodevelopmental abnormalities, intellectual disability, and childhood-onset parkinsonian features, consistent with the established
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Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019 Neuropediatrics (IF 1.4) Pub Date : 2024-02-12 Fabio Jenni, Karin Konzett, Stefanie Gang, Verena Sparr, Burkhard Simma
Aim The aim of this study was to analyze neurodevelopmental outcome of very and extremely preterm infants in Vorarlberg, Austria, accessed with neurodevelopmental testing, at the corrected age of 24 months. This article also compared these results with (inter)national data and analyzed the impact of perinatal parameters. Methods Population-based, retrospective multicenter study with data on very and
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Mapping the Current Research on Mindfulness Interventions for Individuals with Cerebral Palsy: A Scoping Review Neuropediatrics (IF 1.4) Pub Date : 2024-02-05 Roberto Tedeschi
Cerebral palsy (CP) is a chronic neurological disorder that can cause motor and cognitive disabilities. Mindfulness is a form of meditation that has gained attention as a potential therapeutic intervention for improving the health and well-being of patients with CP. Four databases were searched until January 2023. A scoping review was conducted to explore the role of mindfulness in the management of
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Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation Neuropediatrics (IF 1.4) Pub Date : 2024-02-02
The association between dystonia and early-onset epileptic encephalopathy (EOEE) may have a genetic basis. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) germline mutations have been described in the last decade and associated with refractory EOEEs. Dysmorphisms and visceral abnormalities have also been reported. Here, we present the case of a now 8-month-old child who was evaluated
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Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation Neuropediatrics (IF 1.4) Pub Date : 2024-01-30 Nicholas Fearns, Matias Wagner, Ingo Borggräfe, Mathias Kunz, Jan Rémi, Christian Vollmar
Pathogenic variants in COL4A1, encoding the α chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in
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Cerebral Venous Thrombosis in Pediatric Age: Risk Factors and Prognosis Neuropediatrics (IF 1.4) Pub Date : 2024-01-24 Inês Pais-Cunha, Ana I. Almeida, Ana R. Curval, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa
Introduction Cerebral venous thrombosis (CVT) is a rare but potentially fatal disease in pediatric age with an important morbimortality. In adults several factors have been associated with worse outcomes, however there are still few studies in children. This study aims to identify risk factors associated with clinical manifestations and long-term sequelae in pediatric CVT. Methods Retrospective analysis
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Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom Neuropediatrics (IF 1.4) Pub Date : 2024-01-24 Jon Soo Kim, Hyewon Woo, Jae Hee Lee, Won Seop Kim
Background Teenagers with epilepsy require special attention to ensure a successful treatment journey. Our objective was to delineate the clinical characteristics of adolescent-onset epilepsy (AOE) and investigate the predictive factors influencing first-year seizure freedom. Methods We retrospectively analyzed the medical records of patients whose first seizure occurred between the ages of 10 and
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Factors Associated with Respiratory Insufficiency in Children with Guillain–Barré Syndrome Neuropediatrics (IF 1.4) Pub Date : 2024-01-22 Rui-di Sun, Jun Jiang, Xiao-long Deng
Objective The risk factors for respiratory insufficiency in children with Guillain–Barré syndrome (GBS) are poorly known. This study aimed to investigate the factors associated with respiratory insufficiency in children with GBS. Methods This retrospective study included children diagnosed with GBS by pediatric neurologists and admitted at the Wuhan Children's Hospital and other hospitals from January
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A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood Neuropediatrics (IF 1.4) Pub Date : 2024-01-16
Spinocerebellar ataxias (SCAs) are heterogeneous autosomal dominant progressive ataxic disorders. SCA25 has been linked to PNPT1 pathogenic variants. Although pediatric onset is not unusual, to date only one patient with onset in the first years of life has been reported. This study presents an additional case, wherein symptoms emerged during the toddler phase, accompanied by the identification of
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The Assessment and Management of Childhood Masturbation: An Analysis of 90 Cases Neuropediatrics (IF 1.4) Pub Date : 2024-01-05
Aim The child's self-stimulating pleasure behavior is defined as childhood masturbation (CM). Diagnosis of CM is mainly based on behavior and analysis of video recordings. This study aims to investigate etiological factors, movement patterns, and treatment options.Medical records and video recordings of CM in our clinic between 2015 and 2020 were retrospectively reviewed. Results Ninety patients aged
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Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report Neuropediatrics (IF 1.4) Pub Date : 2023-12-28 Haila Alabssi, Nouf F. Almulhim, Mohammed Al-Omari, Ayat H. Safar
Post-coronavirus disease 2019 (COVID-19) vaccination encephalitis is rarely reported particularly in the pediatric population. Herein, we report the first case of postvaccination anti-N-methyl-d-aspartate (NMDA) encephalitis in close temporal association with receiving COVID-19 vaccine in a pediatric patient. The patient is a 13-year-old female who received the first dose of the Pfizer–BioNTech COVID-19
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TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review Neuropediatrics (IF 1.4) Pub Date : 2023-12-28 Xin Gao, Guoyan Xin, Ya Tu, Xiaoping Liang, Huimin Yang, Hong Meng, Yumin Wang
Objective The aim of the study is to explore the clinical and genetic characteristics of the combined oxidative phosphorylation defect type 21 (COXPD21) caused by the TARS2 compound heterozygous pathogenic variants, and to improve clinicians' awareness of the disease. Methods The proband was a girl of first birth, with repeated refractory hypokalemia, hearing impairment, developmental delay, intellectual
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The Possible Role of the Superior Sagittal Sinus in Regulating Cerebrospinal Fluid Dynamics among Preterm Infants: A Case Report and a Review of the Literature Neuropediatrics (IF 1.4) Pub Date : 2023-12-23
We report the case of a preterm of 27 weeks of gestation who developed posthemorrhagic ventricular dilatation associated to a complete thrombosis of the superior sagittal sinus, for its peculiar interest in clarifying the physiology of the cerebrospinal fluid (CSF) dynamics.The exact CSF volume that must be removed to improve cerebral hemodynamics and outcomes in infants with posthemorrhagic ventricular
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Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis Neuropediatrics (IF 1.4) Pub Date : 2023-12-23 Christopher McGinley, Saige Teti, Katherine Hofmann, John M. Schreiber, Nathan T. Cohen, William D. Gaillard, Chima O. Oluigbo
Introduction There is insufficient evidence regarding the efficacy of epilepsy surgery in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 (dishevelled EGL-10 and pleckstrin domain-containing protein 5) pathogenic (P), likely pathogenic (LP), or variance of unknown significance (VUS) variants. Objective To conduct a systematic review on the literature regarding the use and efficacy
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Evaluation of Neurodevelopmental Screening Test Scores in Children with Vitamin B12 Deficiency Neuropediatrics (IF 1.4) Pub Date : 2023-12-20 Ceren Tanc, Ismail Yildiz
Introduction Vitamin B12 deficiency can lead to hematological findings, neurological symptoms, and neurodevelopmental delay. The aim of this study was to investigate the impact of vitamin B12 deficiency on the neurodevelopment of children. Materials and Methods This study included 89 children aged between 6 and 24 months without any complaints; 44 of these were evaluated in the study group (serum vitamin
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Effectiveness of Neuropediatric Inpatient Rehabilitation Neuropediatrics (IF 1.4) Pub Date : 2023-12-20 Hannah Stadler, Kristina Müller, Gerhard Kurlemann, Michael Lendt
Aim Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of current research concerning this matter. This retrospective study aims to analyze the effectiveness of neuropediatric inpatient rehabilitation, to identify influencing factors, and to examine the importance of inpatient rehabilitation programs. Methods We reviewed
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Word-Finding Difficulties as a Prominent Early Finding in a Later Diagnosis of Attention Deficit Hyperactivity Disorder Neuropediatrics (IF 1.4) Pub Date : 2023-11-29 Esther Ganelin-Cohen, Tammy Pilowsky Peleg, Noa Leibovich, Esther Bachrachg, Nathan Watemberg
Objective Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early
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Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series Neuropediatrics (IF 1.4) Pub Date : 2023-11-07 Ana Vilan, Ana Grangeia, José Mendes Ribeiro, Maria Roberta Cilio, Linda S de Vries
Background Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. Objective To assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2/3 variants has enabled early and effective targeted therapy with CBZ. Methods Retrospective descriptive study of five
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Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome. Neuropediatrics (IF 1.4) Pub Date : 2023-10-29 Leonardo Furtado Freitas,Eduardo Carvalho Miranda,Aline Pimentel Amaro,Eduardo de Oliveira Narvaez,Márcio Luís Duarte
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Effects of Neonatal Hypoxic-Ischemic Injury on Brain Sterol Synthesis and Metabolism Neuropediatrics (IF 1.4) Pub Date : 2023-10-23
Background Neonatal hypoxic-ischemic brain injury (HIBI) results from disruptions to blood supply and oxygen in the perinatal brain. The goal of this study was to measure brain sterol metabolites and plasma oxysterols after injury in a neonatal HIBI mouse model to assess for potential therapeutic targets in the brain biochemistry as well as potential circulating diagnostic biomarkers. Methods Postnatal
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ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease Neuropediatrics (IF 1.4) Pub Date : 2023-10-16 C. Thiels, T. Lücke, T. Rothoeft, C. Lukas, H. P. Nguyen, J. C. von Kleist-Retzow, H. Prokisch, M. Grimmel, T. B. Haack, S. Hoffjan
Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 (ACOX1). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous ACOX1 N237S variant through exome sequencing (ES). Both patients showed neurodegenerative clinical
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Hyperventilation and Seizures: Not a New sense: A Literature review Neuropediatrics (IF 1.4) Pub Date : 2023-10-09 Mandeep Rana, Maija Steenari, Daniel Shrey
Hyperventilation and seizures have a long association in the clinical literature and were known to have a relationship long before the electroencephalogram (EEG) was used to record changes in brain activity. As the use of EEG recording progressed, hyperventilation was the first activation method used to assist with diagnosis of epilepsy. Along with slowing of brain activity, hyperventilation can activate
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Electroclinical Features of Epilepsy in Kleefstra's Syndrome Neuropediatrics (IF 1.4) Pub Date : 2023-10-06 Thea Giacomini, Ramona Cordani, Irene Bagnasco, Fabiana Vercellino, Lucio Giordano, Giuseppe Milito, Giovanni Battista Ferrero, Giorgia Mandrile, Marcello Scala, Mariaclaudia Meli, Raffaele Falsaperla, Gianvittorio Luria, Elisa De Grandis, Edoardo Canale, Elisabetta Amadori, Pasquale Striano, Lino Nobili, Laura Siri
Background Kleefstra's syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone
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Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome Neuropediatrics (IF 1.4) Pub Date : 2023-10-05 Darinka Moreno-Brauer, Martin Häusler, Gerhard Kluger, Johannes Hensler, Andreas van Baalen
Objective Describing spectrum, evolution, and clinical relationship of brain magnetic resonance imaging (MRI) findings in a large case series of children with febrile infection-related epilepsy syndrome (FIRES). Methods This retrospective study included 31 children with FIRES. Clinical data and MRI findings of the brain were evaluated. Poor clinical outcome was defined as severe disability, persistent
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Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome Neuropediatrics (IF 1.4) Pub Date : 2023-09-22 Loes A. van Gemert, Nens van Alfen, Lizzy van Gaal, Saskia Wortmann, Michèl A. Willemsen
Background Glucose is an important fuel for the brain. In glucose transporter 1 deficiency syndrome (GLUT1DS), the transport of glucose across the blood–brain barrier is limited. Most individuals with GLUT1DS present with developmental problems, epilepsy, and (paroxysmal) movement disorders, and respond favorably to the ketogenic diet. Similar to ketones, lactate is an alternative energy source for
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Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report Neuropediatrics (IF 1.4) Pub Date : 2023-09-18 Brenda Carolina Nájera-Chávez, Lea Seeber, Klaus Goldhahn, Axel Panzer
The Thr226Met pathologic variant of the SCN1A gene has been associated with the clinical development of an early infantile developmental and epileptic encephalopathy (EIDEE) different from Dravet's syndrome. The electrophysiological mechanisms of the mutated channel lead to a paradoxical gain and loss of function. The use of sodium channel blockers (SCB) that counteract this gain of function has been
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Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus. Neuropediatrics (IF 1.4) Pub Date : 2023-09-04 Tommaso Bellini,Laura Siri,Elisa De Grandis,Clelia Formigoni,Domenico Tortora,Emanuela Piccotti
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Nutritional Management in Children and Adolescents with Severe Neurological Impairment—Who Cares? A Web-Based Survey Among Pediatric Specialists in Germany Neuropediatrics (IF 1.4) Pub Date : 2023-08-22 Sara Hommel, T. Lücke, A. Schmidt-Choudhury
Introduction Nutritional management of children and adolescents with severe neurological impairment (SNI) is challenging. A web-based survey was distributed to identify the present situation and the knowledge of the involved medical professionals in Germany. Materials and Methods The survey was created with LimeSurvey, and access data were distributed by several medical societies. Eighty-three questions
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Decreased Cognitive Function in Danish Children with Epilepsy Neuropediatrics (IF 1.4) Pub Date : 2023-08-22 Laura Bogut, Kaja Andersen, Judy Grejsen, Maria Jose Miranda Gimenez-Rico, Nanette Monique Mol Debes
Objective Children with epilepsy have a significantly increased risk of cognitive impairment. EpiTrack Junior is a screening tool developed for fast assessment of cognitive function in children with epilepsy. The tool is validated for German children. This cohort study aims to investigate the differences in cognitive function between healthy Danish children and Danish children diagnosed with epilepsy
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Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero Neuropediatrics (IF 1.4) Pub Date : 2023-08-14 Jessica Galli, Erika Loi, Alessandra Franzoni, Patrizia Accorsi, Serena Micheletti, Laura Pansera, Elisa Fazzi
Methadone is used as a substitute for illicit opioids during pregnancy. However, the real effect of this molecule on visual and neurodevelopmental outcomes of the children exposed is not fully understood, since studies considered subjects born to polydrug-dependent mothers and followed for few months/years. We report the long-term outcomes of two infants with congenital nystagmus solely exposed to
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A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype Neuropediatrics (IF 1.4) Pub Date : 2023-08-10 Ludovica Pasca, Davide Politano, Anna Cavallini, Elena Panzeri, Maria Cristina Vigone, Cristina Baldoli, Marco Abbate, Gaia Kullmann, Susan Marelli, Gabriella Pozzobon, Gaia Vincenzi, Renata Nacinovich, Maria Teresa Bassi, Romina Romaniello
Septo-optic dysplasia (SOD) syndrome is a rare congenital disorder characterized by a classic triad of optic nerve/chiasm hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Herein, we report the clinical case of 2-year-old boy presenting with psychomotor delay, nystagmus, congenital hypothyroidism, and a clinically relevant growth delay
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Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech Neuropediatrics (IF 1.4) Pub Date : 2023-08-07 Daniela Formicola, Irina Podda, Marilena Pantaleo, Elena Andreucci, Diego Lopergolo, Sabrina Giglio, Filippo Maria Santorelli, Anna Chilosi
Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment. Whole exome sequencing in our case revealed a de novo and
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Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy. Neuropediatrics (IF 1.4) Pub Date : 2023-08-02 Vivien Xie,Dana Harrar,Jonathan Murnick,Diana Bharucha-Goebel,Kuntal Sen
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Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor Neuropediatrics (IF 1.4) Pub Date : 2023-07-30 Kinga Hadzsiev, Márta Hegyi, András Fogarasi, Tímea Bodó-Baltavári, Anna Zsigmond, Anita Maász, András Szabó, Ágnes Till
The mechanistic target of the rapamycin signaling pathway serves as a central regulator of cell metabolism, growth, proliferation, and survival. In its regulation, the GTPase-activating protein activity toward Rags1 complex has an inhibitory effect. Mutations in genes encoding this complex protein are among the most common abnormalities in focal epilepsies. Within these mutations, the mutations affecting
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Trends in Pediatric Mild Traumatic Brain Injury During COVID-19-Related Lockdown—A Single-Center Study Neuropediatrics (IF 1.4) Pub Date : 2023-07-26 Hanna E. Kläger, Benjamin Nast-Kolb, Lea Reuter, Florian Hoffmann, Sabrina Juranek, Christoph Bidlingmaier, Nicole Fabri, Nils K.T. Schönberg, Johanna Wagner, Florian Heinen, Oliver Muensterer, Christiane Zeller, Anne-Sophie Holler, Alexandra Fröba-Pohl, Michaela V. Bonfert
Background A relevant number of visits to pediatric emergency departments (pED) are associated with mild traumatic brain injury (mTBI). On March 16, 2020, the Bavarian government declared a first full lockdown (LD) related to the coronavirus (COVID-19) pandemic. Aim The aim of the study was to investigate the impact of LD on pediatric mTBI. Methods Retrospective chart review of presentations to a pED
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Electrical Stimulation for Children with Cerebral Palsy: A Meta-analysis for Randomized Controlled Trials Neuropediatrics (IF 1.4) Pub Date : 2023-07-24 Yu Liu, Hongzhi Li
Background Different types of electrical stimulation (ES) showed diverse effects on children with cerebral palsy (CP). Previous studies reported inconsistent results for effects of ES on children with CP. The present study aimed to conduct a meta-analysis to summarize these diverse results. Methods We searched for studies exploring effects of ES on children with CP in databases (PubMed and Web of Science)
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Duchenne Muscular Dystrophy Fatigue Trajectories Neuropediatrics (IF 1.4) Pub Date : 2023-07-04 Yi Sally Wei, Mona Hnaini, Basmah ElAloul, Eugenio Zapata, Craig Campbell
Introduction Children with Duchenne muscular dystrophy (DMD) are at risk of experiencing fatigue that negatively impacts their health-related quality of life (HRQoL). This study aimed to assess the association between fatigue and HRQoL, by examining fatigue trajectories over 48 weeks, and assessing factors associated with these fatigue trajectories. Methods The study sample consisted of 173 DMD subjects
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Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms Neuropediatrics (IF 1.4) Pub Date : 2023-06-28 Lokesh Saini, Swetlana Mukherjee, Pradeep Kumar Gunasekaran, Prahbhjot Malhi, Arushi Gahlot Saini, Rajni Sharma, Indar Kumar Sharawat, Renu Suthar, Jitendra Kumar Sahu, Naveen Sankhyan
Background The neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. Methods The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were
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Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study Neuropediatrics (IF 1.4) Pub Date : 2023-06-15 Sarah Hofmann, Sandra Winkler, Matthias Baumann, Herta Zellner
This article obtains an overview of the health status of children and adolescents with neurofibromatosis type 1 (NF1) with a focus on the clinical course of the disease, neuropsychodiagnostic findings, and their impact on quality of life (QoL). In this observational study, data were collected from 24 children and adolescents with NF1 who were cared for at the University Hospital in Innsbruck, Austria
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Communal Poverty Is a Significant Risk Factor for Neonatal Seizures Neuropediatrics (IF 1.4) Pub Date : 2023-06-15
Introduction Neonatal seizures (NS) are a severe condition with significant mortality and long-term morbidity. This study aims to identify risk factors for NS in a racially or ethnically diverse population in Israel. Methods This is a case–control study. The cases were all newborns born between 2001 and 2019 at Emek Medical Center in Israel and admitted with NS. Two healthy controls born in the same
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Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience Neuropediatrics (IF 1.4) Pub Date : 2023-06-15 Raffaele Falsaperla, Vincenzo Sortino, Ausilia Desiree Collotta, Grete Francesca Privitera, Antonio Palmeri, Laura Mauceri, Martino Ruggieri
Background For patients with pharmacoresistant epilepsy, a therapeutic option is ketogenic diet. Currently, data on young infants are scarce, particularly during hospitalization in the neonatal intensive care unit (NICU). Objective The aim of the present study was to evaluate the short-term (3-month) efficacy and side effects of ketogenic diet in infants with “drugs-resistant” epilepsy treated during
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Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? Neuropediatrics (IF 1.4) Pub Date : 2023-06-17 Miriam Nickel, Paul Gissen, Rebecca Greenaway, Simona Cappelletti, Christiane Hamborg, Benedetta Ragni, Tanja Ribitzki, Angela Schulz, Ilaria Tondo, Nicola Specchio
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric disorder associated with rapid neurodegeneration, and premature death in adolescence. An effective enzyme replacement therapy (cerliponase alfa) has been approved that can reduce this predictable neurological decline. The nonspecific early symptoms of CLN2 disease frequently delay diagnosis and appropriate management. Seizures
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Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism—Case Report and Treatment Options Neuropediatrics (IF 1.4) Pub Date : 2023-06-17 C. Menke, I. Wieland, E. Bueltmann, S. Illsinger, H. Hartmann
Acute occlusion of the anterior spinal artery and subsequent spinal ischemic infarction leads to anterior spinal artery syndrome characterized by back pain and bilateral flaccid paresis with loss of protopathic sensibility. As a rare cause fibrocartilaginous embolism has been described and is associated with sports or unusual strain. Following gymnastic exercise the day before symptom-onset, a 11 years
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Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1 Neuropediatrics (IF 1.4) Pub Date : 2023-05-31 Chiara Panicucci, Sara Casalini, Monica Traverso, Noemi Brolatti, Serena Baratto, Lizzia Raffaghello, Marina Pedemonte, Luca Doglio, Maria Derchi, Giorgio Tasca, Beatrice M. Damasio, Chiara Fiorillo, Claudio Bruno
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the X-linked EDMD1, caused by mutations in the EMD gene encoding emerin, and the autosomal EDMD2, due to mutations in the LMNA gene encoding lamin A/C. A clear
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Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome Neuropediatrics (IF 1.4) Pub Date : 2023-05-31 Ayumi Horiguchi, Reiko Koichihara, Kenjiro Kikuchi, Hazuki Nonoyama, Atsuro Daida, Daiju Oba, Yuko Hirata, Ryuki Matsuura, Hirofumi Ohashi, Shin-ichiro Hamano
Background Wolf–Hirschhorn syndrome (WHS) is caused by deletion of the terminal region of chromosome 4 short arm and is frequently associated with intractable epilepsy. Objective This article evaluates the clinical features of epileptic seizures in WHS and the therapeutic efficacy of oral antiseizure medications (ASMs) Methods Patients with WHS who were treated for epilepsy at the Saitama Children's
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Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors Neuropediatrics (IF 1.4) Pub Date : 2023-05-31 Yiğithan Güzin, Ünsal Yılmaz, Fatma Devrim, Nida Dinçel, Aycan Ünalp
Background Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving
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KCNQ2-Related Epilepsy: Genotype–Phenotype Relationship with Tailored Antiseizure Medication (ASM)—A Systematic Review Neuropediatrics (IF 1.4) Pub Date : 2023-05-15 Raffaele Falsaperla, Roberta Criscione, Carla Cimino, Francesco Pisani, Martino Ruggieri
Autosomal dominant mutations of the KCNQ2 gene can cause two epileptic disorders: benign familial neonatal seizures (BFNS) and developmental epileptic encephalopathy (DEE). This systematic review aims to identify the best reported therapy for these patients, relating to phenotype, neurodevelopmental outcome, and an eventual correlation between phenotype and genotype. Methods We searched on PubMed using
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Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy Neuropediatrics (IF 1.4) Pub Date : 2023-05-10 Lucas Bastian Amedick, Pascal Martin, Judith Beschle, Manuel Strölin, Marko Wilke, Nicole Wolf, Petra Pouwels, Gisela Hagberg, Uwe Klose, Thomas Naegele, Ingeborg Kraegeloh-Mann, Samuel Groeschel
Background Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline. Brain magnetic resonance imaging (MRI) can detect affected white matter as T2 hyperintense areas but cannot quantify the gradual microstructural process of demyelination more accurately. Our study aimed to investigate the value
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Myoclonic Status Epilepticus in TBC1D24-Related Developmental/Epileptic Encephalopathy (DEE). Neuropediatrics (IF 1.4) Pub Date : 2023-05-10 Ranjith Kumar Manokaran,Jaina Patel,Suvasini Sharma,Ayako Ochi,Puneet Jain
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Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy Neuropediatrics (IF 1.4) Pub Date : 2023-04-27 Emanuele Bartolini, Stefania Della Vecchia, Tommaso Biagioni, Domenico Montanaro, Anna Rita Ferrari
DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function typically result in familial focal epilepsy with variable foci. Neuroimaging may either be normal or show brain malformations. Lesional and nonlesional cases may be present within the same family. Here, we describe a parent–child dyad affected by a truncating
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Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome Neuropediatrics (IF 1.4) Pub Date : 2023-04-05 Tomoki T. Nomakuchi, Cesar Augusto P. Alves, Lauren A. Beslow, Deborah Zarnow, Neera Goyal, Elaine H. Zackai, Francis Jeshira Reynoso Santos
Subdural hemorrhages (SDHs) in the pediatric population are associated with a high mortality and morbidity and may present in the context of abusive head trauma. Diagnostic investigations for such cases often include evaluation for rare genetic and metabolic disorders that can have associated SDH. Sotos syndrome is an overgrowth syndrome associated with macrocephaly and increased subarachnoid spaces
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Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children Neuropediatrics (IF 1.4) Pub Date : 2023-04-05 Elif Habibe Aktekin, Hasan Özkan Gezer, Nalan Yazıcı, İlknur Erol, Ayşe Erbay, Faik Sarıalioğlu
Aim Opsoclonus–myoclonus–ataxia syndrome (OMAS) is a rare autoimmune disorder. Approximately half of the cases are associated with neuroblastoma in children. This study's aim is to review management of our cases with OMAS-associated neuroblastoma for treatment approach as well as long-term follow-up. Methods Age at onset of symptoms and tumor diagnosis, tumor location, histopathology, stage, chemotherapy
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Effects of the COVID-19 Pandemic on Access to Education and Social Participation in Children and Adolescents with Duchenne Muscular Dystrophy in Switzerland Neuropediatrics (IF 1.4) Pub Date : 2023-03-30 Bettina C. Henzi, Dominique Baumann, Sarah J. Erni, Nadine Lötscher, Anne Tscherter, Andrea Klein, on behalf of the Swiss-Reg-NMD Group
Background Two-thirds of patients with Duchenne muscular dystrophy (DMD) have cognitive and neuropsychiatric problems. Concerning their quality of life, negative factors are the lack of qualifying education and social participation in sporting and leisure activities. Adapted assistance in education and participation in social life are thus important. During the coronavirus disease 2019 (COVID-19) pandemic