Anterior Spinal Artery Syndrome Due to Fibrocartilaginous Embolism —Case Report and Treatment Options
Neuropediatrics DOI: 10.1055/a-2090-5865Acute 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 old girl presented with neck pain, paresis of arms and legs, and impaired deep tendon reflexes. She was unable to lift her arms, grasp, stand, walk and had urinary incontinence. Magneti...
Source: Neuropediatrics - June 17, 2023 Category: Neurology Authors: Menke, C. Wieland, I. Bueltmann, E. Illsinger, S. Hartmann, H. Tags: Short Communications Source Type: research
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study
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, from 2008 to 2022. Data were collected every 6 to 12 months from routine check-ups, including clinical features and imaging findings. Results of neuropsychodiagnostic tests and the KINDL questionnaire to assess QoL were includ...
Source: Neuropediatrics - June 15, 2023 Category: Neurology Authors: Hofmann, Sarah Winkler, Sandra Baumann, Matthias Zellner, Herta Tags: Short Communications Source Type: research
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures
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 period were matched for each case. Demographic, maternal, and neonatal variables were abstracted from the electronic medical files.
Results A total of 139 cases were matched with 278 controls. Residing in a town with lower socioeconomic status (SES), primiparity and abnormal prenatal ultrasound were significantly associa...
Source: Neuropediatrics - June 15, 2023 Category: Neurology Authors: Tanous, Osama Haj-Yahya, Kholoud T. Ershead, Angie Lerner, Liat Tags: Original Article Source Type: research
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects —A Single Center's Initial Experience
Conclusion The ketogenic diet is efficacious and safe in infants, but the early and aggressive management of adverse reactions is important to improve the safety and effectiveness of the ketogenic treatment. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - June 15, 2023 Category: Neurology Authors: Falsaperla, Raffaele Sortino, Vincenzo Collotta, Ausilia Desiree Privitera, Grete Francesca Palmeri, Antonio Mauceri, Laura Ruggieri, Martino Tags: Original Article Source Type: research
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1
We report a 13-year-old boy with mild limb girdle muscle weakness, elbow and ankle contractures, with absence of emerin at muscle biopsy, carrying a hemizygous frameshift mutation on the EMD gene (c.153dupC/p.Ser52Glufs*9) of maternal inheritance. Minor cardiac rhythm abnormalities were detected at 24-hour Holter electrocardiogram and required β-blocker therapy. MRI scan of the thighs showed a mild diffuse involvement, while tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius were the most affected muscles in the leg. We also provide a review of the muscular MRI data in EDMD patients an...
Source: Neuropediatrics - May 31, 2023 Category: Neurology Authors: Panicucci, Chiara Casalini, Sara Traverso, Monica Brolatti, Noemi Baratto, Serena Raffaghello, Lizzia Pedemonte, Marina Doglio, Luca Derchi, Maria Tasca, Giorgio Damasio, Beatrice M. Fiorillo, Chiara Bruno, Claudio Tags: Short Communications Source Type: research
Efficacy of Antiseizure Medications in Wolf –Hirschhorn Syndrome
Conclusion Although WHS-associated epilepsy is intractable with frequent SE occurrence during infancy, improvement in seizure control is expected with age. Levetiracetam may be a novel ASM for WHS. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 31, 2023 Category: Neurology Authors: Horiguchi, Ayumi Koichihara, Reiko Kikuchi, Kenjiro Nonoyama, Hazuki Daida, Atsuro Oba, Daiju Hirata, Yuko Matsuura, Ryuki Ohashi, Hirofumi Hamano, Shin-ichiro Tags: Short Communication Source Type: research
Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors
Conclusion Renal stone appears to be a common adverse effect of KD therapy. Although adequate hydration and potassium citrate treatment are effective in most patients, lithotripsy and surgery may be required in a minority of patients. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 31, 2023 Category: Neurology Authors: G üzin, Yiğithan Y ılmaz, Ünsal Devrim, Fatma Din çel, Nida Ünalp, Aycan Tags: Original Research Article Source Type: research
KCNQ2-Related Epilepsy: Genotype –Phenotype Relationship with Tailored Antiseizure Medication (ASM)—A Systematic Review
Conclusions Phenobarbital or carbamazepine appears to be the most effective antiseizure medication for children with a “benign” variant. On the contrary, polytherapy is often needed for DEE patients, even if it does not seem to improve neurological outcomes. In DEE patients, most mutations were located in S4 and S6 helix, which could serve as a potential target for the development of more specific treatment in the future. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 15, 2023 Category: Neurology Authors: Falsaperla, Raffaele Criscione, Roberta Cimino, Carla Pisani, Francesco Ruggieri, Martino Tags: Review Article Source Type: research
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
Conclusion Our results show that diffusion MRI can deliver valuable, robust, clinically meaningful, and easily obtainable/accessible/available parameters in the assessment of prognosis and progression of MLD. Therefore, it provides additional quantifiable information to established methods such as T2 hyperintensity. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - May 10, 2023 Category: Neurology Authors: Amedick, Lucas Bastian Martin, Pascal Beschle, Judith Str ölin, Manuel Wilke, Marko Wolf, Nicole Pouwels, Petra Hagberg, Gisela Klose, Uwe Naegele, Thomas Kraegeloh-Mann, Ingeborg Groeschel, Samuel Tags: Original Article Source Type: research
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy
Neuropediatrics DOI: 10.1055/a-2067-5096
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 DEPDC5 pathogenic variant (c.727C > T; p.Arg243*), analyze the epilepsy clinical course, and describe neuroimaging characteristics from a 3T brain magnetic resonance ...
Source: Neuropediatrics - April 27, 2023 Category: Neurology Authors: Bartolini, Emanuele Della Vecchia, Stefania Biagioni, Tommaso Montanaro, Domenico Ferrari, Anna Rita Tags: Short Communication Source Type: research
Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome
Neuropediatrics DOI: 10.1055/a-2052-8750Subdural 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 and rarely with neurovascular complications. Here, we report two cases of Sotos syndrome, one with SDH during infancy who underwent repeated evaluation for suspected child abuse prior to ...
Source: Neuropediatrics - April 5, 2023 Category: Neurology Authors: Nomakuchi, Tomoki T. Alves, Cesar Augusto P. Beslow, Lauren A. Zarnow, Deborah Goyal, Neera Zackai, Elaine H. Reynoso Santos, Francis Jeshira Tags: Short Communication Source Type: research
Five Years Follow-up of Opsoclonus –Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children
Conclusion In tumor-related cases, alternating use of corticosteroid and IVIG for suppression of autoimmunity as the OMAS protocol, total excision of the tumor as soon as possible, and chemotherapeutics in selected patients seem to be related to resolution of acute problems, long-term sequelae, and severity. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 5, 2023 Category: Neurology Authors: Aktekin, Elif Habibe Gezer, Hasan Özkan Yaz ıcı, Nalan Erol, İlknur Erbay, Ay şe Sar ıalioğlu, Faik Tags: Original Article Source Type: research
Effects of the COVID-19 Pandemic on Access to Education and Social Participation in Children and Adolescents with Duchenne Muscular Dystrophy in Switzerland
Conclusion The COVID-19 pandemic had direct effects on school assistance, sporting, and leisure activities in young patients with DMD in Switzerland. It is important to ensure that school assistance and leisure activities are rapidly resumed. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 30, 2023 Category: Neurology Authors: Henzi, Bettina C. Baumann, Dominique Erni, Sarah J. L ötscher, Nadine Tscherter, Anne Klein, Andrea Tags: Short Communication Source Type: research
Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic
Conclusion These findings provide evidence that, regarding tic severity assessed with YGTSS, the experiences of adolescent girls and boys with TS have differed during the pandemic. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 24, 2023 Category: Neurology Authors: Larsh, Travis R. Wu, Steve W. Huddleston, David A. Lipps, Tara D. Gilbert, Donald L. Tags: Short Communications Source Type: research
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency
Neuropediatrics DOI: 10.1055/a-2041-3461 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 22, 2023 Category: Neurology Authors: Means, Margaret J. Whitehead, Matthew T. Borst, Alexandra J. Cristancho, Ana G. Tags: Videos and Images in Neuropediatrics Source Type: research
