Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome
Conclusion This study suggests that sodium lactate infusion is possible in individuals with GLUT1DS, and may have potential therapeutic effects. Cellular abnormalities, beyond neuronal energy failure, may contribute to the underlying disease mechanisms of GLUT1DS, explaining why not all individuals respond to the supplementation of alternative energy sources. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - September 22, 2023 Category: Neurology Authors: van Gemert, Loes A. van Alfen, Nens van Gaal, Lizzy Wortmann, Saskia Willemsen, Mich èl A. Tags: Original Article Source Type: research
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report
We report the use of SCB in a child harboring the Thr226Met pathologic variant of SCN1A with early-onset pharmaco-resistant migrating seizures, as well as developmental delay. Lacosamide led to a dramatic reduction in seizure frequency; however, only a mild improvement in the epileptic activity depicted by electroencephalography (EEG) was achieved. The introduction of carbamazepine as an add-on therapy led to a notable reduction in epileptic activity via EEG and to an improvement in sensorimotor development. Despite the overall clinical improvement, the patient developed febrile seizures and a nonepileptic jerking of the r...
Source: Neuropediatrics - September 18, 2023 Category: Neurology Authors: N ájera-Chávez, Brenda Carolina Seeber, Lea Goldhahn, Klaus Panzer, Axel Tags: Short Communications Source Type: research
Precision Therapy in KCNQ2-Related Epilepsy
Neuropediatrics 2023; 54: 295-296 DOI: 10.1055/s-0043-1772667 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - September 18, 2023 Category: Neurology Authors: Borggraefe, Ingo Wagner, Matias Tags: Editorial Source Type: research
Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy
Neuropediatrics DOI: 10.1055/a-2146-6989 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - September 11, 2023 Category: Neurology Authors: Xie, Vivien X. Harrar, Dana Murnick, Jonathan Bharucha-Goebel, Diana Sen, Kuntal Tags: Videos and Images in Neuropediatrics Source Type: research
Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus
Neuropediatrics DOI: 10.1055/s-0043-1772462 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - September 4, 2023 Category: Neurology Authors: Bellini, Tommaso Siri, Laura De Grandis, Elisa Formigoni, Clelia Tortora, Domenico Piccotti, Emanuela Tags: Videos and Images in Neuropediatrics Source Type: research
Nutritional Management in Children and Adolescents with Severe Neurological Impairment —Who Cares? A Web-Based Survey Among Pediatric Specialists in Germany
Conclusion Nutritional management of children and adolescents with SNI in Germany is still strongly deficient. Despite the international guideline of 2017, few colleagues are aware of and adhere to the recommendations. This could be improved by interdisciplinary teaching and evaluation of the reasons for noncompliance. The procedure of gastrostomy and the patients' follow-up vary widely. Therefore, modified SOPs should be developed. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - August 22, 2023 Category: Neurology Authors: Hommel, Sara L ücke, T. Schmidt-Choudhury, A. Tags: Original Article Source Type: research
Decreased Cognitive Function in Danish Children with Epilepsy
Conclusion The patient group showed statistically significant lower test scores compared to the control group confirming the relationship between impaired cognitive function and childhood epilepsy. Furthermore, a correlation between a higher EpiTrack Junior score and the presence of GTCS was found. Focal seizures and antiepileptic drug treatment were not associated with the EpiTrack Junior score. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - August 22, 2023 Category: Neurology Authors: Bogut, Laura Andersen, Kaja Grejsen, Judy Gimenez-Rico, Maria Jose Miranda Debes, Nanette Monique Mol Tags: Original Article Source Type: research
Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero
This report highlights the long-term visual and developmental outcomes of two children exclusively exposed to methadone underlining the possibility of a visual dysfunction and motor coordination disorder. These observations prompt the need to investigate prenatal drug exposure as a cause of congenital nystagmus. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - August 14, 2023 Category: Neurology Authors: Galli, Jessica Loi, Erika Franzoni, Alessandra Accorsi, Patrizia Micheletti, Serena Pansera, Laura Fazzi, Elisa Tags: Short Communication Source Type: research
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype
Neuropediatrics DOI: 10.1055/a-2114-4387Septo-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. The neuroradiological examination showed partial segmental agenesis of the corpus callosum, agenesis of the septum pellucidum, optic nerve hypoplasia, and a small pituitary gland with a sm...
Source: Neuropediatrics - August 10, 2023 Category: Neurology Authors: Pasca, Ludovica Politano, Davide Cavallini, Anna Panzeri, Elena Vigone, Maria Cristina Baldoli, Cristina Abbate, Marco Kullmann, Gaia Marelli, Susan Pozzobon, Gabriella Vincenzi, Gaia Nacinovich, Renata Bassi, Maria Teresa Romaniello, Romina Tags: Case Report Source Type: research
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech
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 splicing mutation in the CSMD1 gene. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - August 7, 2023 Category: Neurology Authors: Formicola, Daniela Podda, Irina Pantaleo, Marilena Andreucci, Elena Lopergolo, Diego Giglio, Sabrina Santorelli, Filippo Maria Chilosi, Anna Tags: Short Communications Source Type: research
Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor
Neuropediatrics DOI: 10.1055/a-2104-1614The 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 the DEPDC5 gene have been associated with different autosomal dominantly inherited epilepsy types. Due to the limited data available on mTOR inhibitor therapy in nontuberous sclerosi...
Source: Neuropediatrics - July 30, 2023 Category: Neurology Authors: Hadzsiev, Kinga Hegyi, M árta Fogarasi, Andr ás Bod ó-Baltavári, Tímea Zsigmond, Anna Ma ász, Anita Szab ó, András Till, Ágnes Tags: Short Communications Source Type: research
Trends in Pediatric Mild Traumatic Brain Injury During COVID-19-Related Lockdown —A Single-Center Study
Conclusion The decrease in mTBI presentations is likely due to an absolute decrease in numbers related to the LD measures, combined with a hesitation to present very minor mTBI to the hospital, because of fear of being infected or not to put additional strain on the healthcare system during this healthcare crisis. On the other hand, data of those that presented with mTBI tend to reflect the more severe spectrum of mTBI. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 26, 2023 Category: Neurology Authors: Kl äger, Hanna E. Nast-Kolb, Benjamin Reuter, Lea Hoffmann, Florian Juranek, Sabrina Bidlingmaier, Christoph Fabri, Nicole Sch önberg, Nils K.T. Wagner, Johanna Heinen, Florian Muensterer, Oliver Zeller, Christiane Holler, Anne-Sophie Fr öba-Pohl, Alex Tags: Original Article Source Type: research
Electrical Stimulation for Children with Cerebral Palsy: A Meta-analysis for Randomized Controlled Trials
Conclusions The study demonstrated that ES might be used as therapy to improve gross motor function, gait, and daily living activities in children with CP. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 24, 2023 Category: Neurology Authors: Liu, Yu Li, Hongzhi Tags: Original Article Source Type: research
Myoclonic Status Epilepticus in TBC1D24-Related Developmental/Epileptic Encephalopathy (DEE)
Neuropediatrics DOI: 10.1055/a-2090-5922 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 18, 2023 Category: Neurology Authors: Manokaran, Ranjith Kumar Patel, Jaina Sharma, Suvasini Ochi, Ayako Jain, Puneet Tags: Videos and Images in Neuropediatrics Source Type: research
Duchenne Muscular Dystrophy Fatigue Trajectories
Conclusion This study identified fatigue trajectories and risk factors associated with greater fatigue, helping clinicians and researchers identify the profile of fatigue in DMD children. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - July 4, 2023 Category: Neurology Authors: Wei, Yi Sally Hnaini, Mona ElAloul, Basmah Zapata, Eugenio Campbell, Craig Tags: Original Article Source Type: research
