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 methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. 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.
{"title":"Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero.","authors":"Jessica Galli, Erika Loi, Alessandra Franzoni, Patrizia Accorsi, Serena Micheletti, Laura Pansera, Elisa Fazzi","doi":"10.1055/s-0043-1771388","DOIUrl":"10.1055/s-0043-1771388","url":null,"abstract":"<p><p>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 methadone in utero. Neurological and neurovisual evaluations were performed every year from the first year of life to 11 years of age. One child was diagnosed with developmental coordination disorder. Both cases presented with ophthalmologic (refractive errors), oculomotor (nystagmus and fixation, smooth pursuit, and saccades dysfunctions), and perceptive problems (reduced visual acuity and contrast sensitivity). While nystagmus and other oculomotor dysfunctions remained stable over time, visual acuity and contrast sensitivity improved; refractive errors worsened and required corrective lenses. Both children showed normal neurodevelopmental and cognitive profile. 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.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10054379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-06-15DOI: 10.1055/s-0043-1768988
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, 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 included. Of 24 patients, 15 underwent a neuropsychological examination. Attention performance was examined in 11 of them. Eight of 11 (72%) showed an attention deficit. Assessment for specific developmental disorders showed visual-spatial difficulties in 12/15 (80%) patients. The KINDL questionnaire values ranged from 58.22 to 97.92 (0 stands for reduced QoL, 100 for very good QoL). Patients with scoliosis had a lower range of QoL (56.33-73.96). No trend in QoL was observed in children and adolescents with plexiform neurofibromas, below-average intelligence or optic gliomas. NF1 patients show very different clinical courses. Regular neuropsychological assessment especially with regard to visual-spatial skills and attention deficits is necessary to offer appropriate support, promote children's development, and thus improve their QoL.
{"title":"Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study.","authors":"Sarah Hofmann, Sandra Winkler, Matthias Baumann, Herta Zellner","doi":"10.1055/s-0043-1768988","DOIUrl":"10.1055/s-0043-1768988","url":null,"abstract":"<p><p>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 included. Of 24 patients, 15 underwent a neuropsychological examination. Attention performance was examined in 11 of them. Eight of 11 (72%) showed an attention deficit. Assessment for specific developmental disorders showed visual-spatial difficulties in 12/15 (80%) patients. The KINDL questionnaire values ranged from 58.22 to 97.92 (0 stands for reduced QoL, 100 for very good QoL). Patients with scoliosis had a lower range of QoL (56.33-73.96). No trend in QoL was observed in children and adolescents with plexiform neurofibromas, below-average intelligence or optic gliomas. NF1 patients show very different clinical courses. Regular neuropsychological assessment especially with regard to visual-spatial skills and attention deficits is necessary to offer appropriate support, promote children's development, and thus improve their QoL.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9642939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-05-31DOI: 10.1055/s-0043-1768989
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 definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. 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 and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.
{"title":"Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.","authors":"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","doi":"10.1055/s-0043-1768989","DOIUrl":"10.1055/s-0043-1768989","url":null,"abstract":"<p><p>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 <i>EMD</i> gene encoding emerin, and the autosomal EDMD2, due to mutations in the <i>LMNA</i> gene encoding lamin A/C. A clear definition of the magnetic resonance imaging (MRI) pattern in the two forms, and especially in the rarer EDMD1, is still lacking, although a preferential involvement of the medial head of the gastrocnemius has been suggested in EDMD2. 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 <i>EMD</i> 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 and highlight the relative heterogeneity of the MRI patterns found in EDMDs, suggesting that muscle MRI should be studied in larger EDMD cohorts to better define disease patterns and to cover the wide disease spectrum.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9554095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-04-26DOI: 10.1055/a-2081-1560
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) from their inception until December 2022. Standard mean differences (SMDs) and 95% confidence intervals (CIs) were computed using STATA 12.0 software.
Results: The meta-analysis included 19 randomized controlled trials (including 265 CP patients in test group and 263 CP patients in corresponding control group). The study showed an increased improvement in gross motor function, walking speed, step length, and daily living activities in ES group compared with corresponding control group with random effects models (gross motor function: SMD = 2.04, 95% CI = 1.43-2.65; walking speed: SMD = 3.71, 95% CI = 1.49-5.92; step length: SMD = 1.89, 95% CI = 0.65-3.13; daily living activities: SMD = 5.18, 95% CI = 3.04-7.31), whereas the study showed no significant difference in change of muscle strength between ES group and the corresponding control group with a random effects model (SMD = 0.42, 95% CI = -0.12 to 0.97).
Conclusion: The study demonstrated that ES might be used as therapy to improve gross motor function, gait, and daily living activities in children with CP.
背景:不同类型的电刺激(ES)对脑瘫(CP)患儿的治疗效果不同。先前的研究报告了ES对CP患儿影响的不一致结果。本研究旨在进行荟萃分析以总结这些不同的结果。方法:从数据库(PubMed和Web of Science)建立到2022年12月,我们检索了探讨ES对CP儿童影响的研究。使用STATA 12.0软件计算标准均值差(SMDs)和95%置信区间(ci)。结果:meta分析纳入19项随机对照试验(试验组265例CP患者,相应对照组263例CP患者)。研究显示,与随机效应模型的对照组相比,ES组大肌肉运动功能、步行速度、步长和日常生活活动的改善有所增加(大肌肉运动功能:SMD = 2.04, 95% CI = 1.43-2.65;步行速度:SMD = 3.71, 95% CI = 1.49 ~ 5.92;步长:SMD = 1.89, 95% CI = 0.65-3.13;日常生活活动:SMD = 5.18, 95% CI = 3.04-7.31),而研究采用随机效应模型显示ES组与相应对照组的肌力变化无显著差异(SMD = 0.42, 95% CI = -0.12 ~ 0.97)。结论:本研究表明,肌电刺激可用于改善CP患儿的大运动功能、步态和日常生活活动。
{"title":"Electrical Stimulation for Children with Cerebral Palsy: A Meta-analysis for Randomized Controlled Trials.","authors":"Yu Liu, Hongzhi Li","doi":"10.1055/a-2081-1560","DOIUrl":"10.1055/a-2081-1560","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>We searched for studies exploring effects of ES on children with CP in databases (PubMed and Web of Science) from their inception until December 2022. Standard mean differences (SMDs) and 95% confidence intervals (CIs) were computed using STATA 12.0 software.</p><p><strong>Results: </strong>The meta-analysis included 19 randomized controlled trials (including 265 CP patients in test group and 263 CP patients in corresponding control group). The study showed an increased improvement in gross motor function, walking speed, step length, and daily living activities in ES group compared with corresponding control group with random effects models (gross motor function: SMD = 2.04, 95% CI = 1.43-2.65; walking speed: SMD = 3.71, 95% CI = 1.49-5.92; step length: SMD = 1.89, 95% CI = 0.65-3.13; daily living activities: SMD = 5.18, 95% CI = 3.04-7.31), whereas the study showed no significant difference in change of muscle strength between ES group and the corresponding control group with a random effects model (SMD = 0.42, 95% CI = -0.12 to 0.97).</p><p><strong>Conclusion: </strong>The study demonstrated that ES might be used as therapy to improve gross motor function, gait, and daily living activities in children with CP.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9870296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-05-01DOI: 10.1055/a-2084-2674
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 due to mTBI. Study periods covered LD (03/17/2020 through 05/05/2020) and the same time in 2017, 2018, and 2019 as reference period (RP). Comparative analyses were performed by Chi-square or Fisher's exact test.
Results: Numbers of mTBI cases decreased by half. Age distribution did not differ. A significantly higher proportion of mTBI were related to falls at home (p = 0.001). Further, a higher rate of hospital admissions (p = 0.03), a higher proportion of intensive care unit admissions (p = 0.001), a longer duration of hospital stay (p = 0.02), and a higher rate of intracranial pathologies on neuroimaging were observed during LD (p = 0.007).
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.
{"title":"Trends in Pediatric Mild Traumatic Brain Injury During COVID-19-Related Lockdown-A Single-Center Study.","authors":"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","doi":"10.1055/a-2084-2674","DOIUrl":"10.1055/a-2084-2674","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>The aim of the study was to investigate the impact of LD on pediatric mTBI.</p><p><strong>Methods: </strong>Retrospective chart review of presentations to a pED due to mTBI. Study periods covered LD (03/17/2020 through 05/05/2020) and the same time in 2017, 2018, and 2019 as reference period (RP). Comparative analyses were performed by Chi-square or Fisher's exact test.</p><p><strong>Results: </strong>Numbers of mTBI cases decreased by half. Age distribution did not differ. A significantly higher proportion of mTBI were related to falls at home (<i>p</i> = 0.001). Further, a higher rate of hospital admissions (<i>p</i> = 0.03), a higher proportion of intensive care unit admissions (<i>p</i> = 0.001), a longer duration of hospital stay (<i>p</i> = 0.02), and a higher rate of intracranial pathologies on neuroimaging were observed during LD (<i>p</i> = 0.007).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9926871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-07-21DOI: 10.1055/a-2134-8766
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 the brain. The aim of this study is to investigate whether intravenous infusion of sodium lactate in children with GLUT1DS has beneficial effects on their epilepsy.
Methods: We performed a proof of principle study with two subjects with GLUT1DS who were not on a ketogenic diet and suffered from absence epilepsy. After overnight fasting, sodium lactate (600 mmol/L) was infused during 120 minutes, under video electroencephalographic (EEG) recording and monitoring of serum lactate, glucose, electrolytes, and pH. Furthermore, the EEGs were compared with pre-/postprandial EEGs of both subjects, obtained shortly before the study.
Results: Fasting EEGs of both subjects showed frequent bilateral, frontocentral polyspike and wave complexes. In one subject, no more epileptic discharges were seen postprandially and after the start of lactate infusion. The EEG of the other subject did not change, neither postprandially nor after lactate infusion. Serum pH, lactate, and sodium changed temporarily during the study.
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.
{"title":"Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome.","authors":"Loes A van Gemert, Nens van Alfen, Lizzy van Gaal, Saskia Wortmann, Michèl A Willemsen","doi":"10.1055/a-2134-8766","DOIUrl":"10.1055/a-2134-8766","url":null,"abstract":"<p><strong>Background: </strong>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 the brain. The aim of this study is to investigate whether intravenous infusion of sodium lactate in children with GLUT1DS has beneficial effects on their epilepsy.</p><p><strong>Methods: </strong>We performed a proof of principle study with two subjects with GLUT1DS who were not on a ketogenic diet and suffered from absence epilepsy. After overnight fasting, sodium lactate (600 mmol/L) was infused during 120 minutes, under video electroencephalographic (EEG) recording and monitoring of serum lactate, glucose, electrolytes, and pH. Furthermore, the EEGs were compared with pre-/postprandial EEGs of both subjects, obtained shortly before the study.</p><p><strong>Results: </strong>Fasting EEGs of both subjects showed frequent bilateral, frontocentral polyspike and wave complexes. In one subject, no more epileptic discharges were seen postprandially and after the start of lactate infusion. The EEG of the other subject did not change, neither postprandially nor after lactate infusion. Serum pH, lactate, and sodium changed temporarily during the study.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9848846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-09-04DOI: 10.1055/s-0043-1772462
Tommaso Bellini, Laura Siri, Elisa De Grandis, Clelia Formigoni, Domenico Tortora, Emanuela Piccotti
{"title":"Multidirectional Nystagmus as the Presenting Sign of Brain Tumor with Hydrocephalus.","authors":"Tommaso Bellini, Laura Siri, Elisa De Grandis, Clelia Formigoni, Domenico Tortora, Emanuela Piccotti","doi":"10.1055/s-0043-1772462","DOIUrl":"10.1055/s-0043-1772462","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10145002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2022-12-28DOI: 10.1055/a-2003-9886
Judith Kalser, Fabienne Giuliano, Maria Peralta, Barbara Plecko, Bigna K Bölsterli
To describe a new phenotype and the diagnostic workup of a vitamin-B6-dependent epilepsy due to pyridoxal 5'-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months. Following immediate and impressive clinical response to treatment with pyridoxine, metabolic screening for vitamin-B6-dependent epilepsies and targeted next-generation sequencing (NGS)-based gene panel analysis were performed. Potentially pathogenic variants were confirmed by Sanger sequencing in the patient, and variants were analyzed in both parents to confirm biallelic inheritance. The clinical phenotype and course of disease were compared to the 44 cases reported in the literature, harboring variants in pyridoxal phosphate homeostasis protein (PLPHP) and with cases of vitamin-B6-dependent epilepsy due to other known causative genes. Levels of alpha-aminoadipic semialdehyde in urine and amino acids were normal. Two inherited pathogenic variations in PLPHP were found in compound heterozygosity, including one novel deletion. We here describe a previously unreported individual harboring biallelic pathogenic PLPHP variants presenting with paroxysmal eye-head movements followed by epileptic spasms and an almost normal interictal electroencephalogram, thus expanding the clinical spectrum of PLPBP deficiency. This warrants consideration of vitamin-B6-dependent epilepsies in patients with early-onset epilepsy, including epileptic spasms, and eye movement disorders also beyond the neonatal period even when metabolic screening for vitamin-B6-dependent epilepsies is negative. PLPHP should be included systematically in NGS epilepsy gene panels.
{"title":"Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.","authors":"Judith Kalser, Fabienne Giuliano, Maria Peralta, Barbara Plecko, Bigna K Bölsterli","doi":"10.1055/a-2003-9886","DOIUrl":"10.1055/a-2003-9886","url":null,"abstract":"<p><p>To describe a new phenotype and the diagnostic workup of a vitamin-B<sub>6</sub>-dependent epilepsy due to pyridoxal 5'-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months. Following immediate and impressive clinical response to treatment with pyridoxine, metabolic screening for vitamin-B<sub>6</sub>-dependent epilepsies and targeted next-generation sequencing (NGS)-based gene panel analysis were performed. Potentially pathogenic variants were confirmed by Sanger sequencing in the patient, and variants were analyzed in both parents to confirm biallelic inheritance. The clinical phenotype and course of disease were compared to the 44 cases reported in the literature, harboring variants in pyridoxal phosphate homeostasis protein (<i>PLPHP</i>) and with cases of vitamin-B<sub>6</sub>-dependent epilepsy due to other known causative genes. Levels of alpha-aminoadipic semialdehyde in urine and amino acids were normal. Two inherited pathogenic variations in <i>PLPHP</i> were found in compound heterozygosity, including one novel deletion. We here describe a previously unreported individual harboring biallelic pathogenic <i>PLPHP</i> variants presenting with paroxysmal eye-head movements followed by epileptic spasms and an almost normal interictal electroencephalogram, thus expanding the clinical spectrum of PLPBP deficiency. This warrants consideration of vitamin-B<sub>6</sub>-dependent epilepsies in patients with early-onset epilepsy, including epileptic spasms, and eye movement disorders also beyond the neonatal period even when metabolic screening for vitamin-B<sub>6</sub>-dependent epilepsies is negative. <i>PLPHP</i> should be included systematically in NGS epilepsy gene panels.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10760259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-10-09DOI: 10.1055/s-0043-1774808
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 epileptiform spiking activity in patients with epilepsy. Currently, hyperventilation is used in standard practice to assist with the diagnosis of epilepsy during EEG recording. Hyperventilation activates epileptiform spiking activity more often than seizures but can trigger clinical seizures in up to 50% of patients with generalized epilepsy. It is more likely to trigger events in children with absence seizures than adults, and it acts as a trigger in patients with focal epilepsy far less often. However, while some clinicians suggest that its diagnostic value is limited, especially in adults with focal epilepsies, others suggest that it is simple, safe, and an important diagnostic tool, even in these patients. This review presents the history of hyperventilation and seizures, its use in the clinical practice, and possible mechanisms involved.
{"title":"Hyperventilation and Seizures: Not a New Sense: A Literature Review.","authors":"Mandeep Rana, Maija Steenari, Daniel Shrey","doi":"10.1055/s-0043-1774808","DOIUrl":"10.1055/s-0043-1774808","url":null,"abstract":"<p><p>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 epileptiform spiking activity in patients with epilepsy. Currently, hyperventilation is used in standard practice to assist with the diagnosis of epilepsy during EEG recording. Hyperventilation activates epileptiform spiking activity more often than seizures but can trigger clinical seizures in up to 50% of patients with generalized epilepsy. It is more likely to trigger events in children with absence seizures than adults, and it acts as a trigger in patients with focal epilepsy far less often. However, while some clinicians suggest that its diagnostic value is limited, especially in adults with focal epilepsies, others suggest that it is simple, safe, and an important diagnostic tool, even in these patients. This review presents the history of hyperventilation and seizures, its use in the clinical practice, and possible mechanisms involved.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41183272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-12-01Epub Date: 2023-07-19DOI: 10.1055/a-2133-5343
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 described in previous studies and they can be safely administered to patients carrying mutations in other sodium channel subtypes without causing a worsening of seizures. 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 right hand. In this case of EIDEE with the Thr226Met variant, we demonstrate a beneficial pharmacological intervention of SCB in contrast to findings described in current literature. Our report encourages the cautious use of SCB at early stages of the disease in patients carrying this pathologic variant.
{"title":"Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.","authors":"Brenda Carolina Nájera-Chávez, Lea Seeber, Klaus Goldhahn, Axel Panzer","doi":"10.1055/a-2133-5343","DOIUrl":"10.1055/a-2133-5343","url":null,"abstract":"<p><p>The Thr226Met pathologic variant of the <i>SCN1A</i> 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 described in previous studies and they can be safely administered to patients carrying mutations in other sodium channel subtypes without causing a worsening of seizures. We report the use of SCB in a child harboring the Thr226Met pathologic variant of <i>SCN1A</i> 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 right hand. In this case of EIDEE with the Thr226Met variant, we demonstrate a beneficial pharmacological intervention of SCB in contrast to findings described in current literature. Our report encourages the cautious use of SCB at early stages of the disease in patients carrying this pathologic variant.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10643020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10293234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}