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Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation.
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-02-03 DOI: 10.1055/a-2517-7800
Ruonan Gao, Xiao Cheng, Liang Huang, Rong Luo, Linan Zeng, Guo Cheng, Qin Yu, Hailong Li, Lingli Zhang
{"title":"Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation.","authors":"Ruonan Gao, Xiao Cheng, Liang Huang, Rong Luo, Linan Zeng, Guo Cheng, Qin Yu, Hailong Li, Lingli Zhang","doi":"10.1055/a-2517-7800","DOIUrl":"10.1055/a-2517-7800","url":null,"abstract":"<p><strong>Background: </strong> Infantile epileptic spasms syndrome (IESS) is the most common epileptic encephalopathy in infancy and early childhood. At present, adrenocorticotropic hormone (ACTH) and prednisolone are commonly used as drug treatment regimens for IESS. However, evidence of efficacy and economics remains controversial. This study aimed to evaluate the effectiveness, safety, and economy of ACTH and prednisolone of IESS.</p><p><strong>Methods: </strong> Seven literature databases and two clinical trial registration platforms were searched, and a meta-analysis was conducted. From the perspective of the health care system, a 14-day economic evaluation was conducted. The rate of spasm cessation on the 14th day was used as the effect index. The univariate sensitivity analysis was used to verify the robustness of the results.</p><p><strong>Results: </strong> Nine randomized controlled trials (RCTs) were included. Current clinical evidence is not sufficient to prove the difference in the rate of spasm cessation on the 14th day (risk ratio [RR] = 1.05, 95% CI 0.86-1.27, <i>p</i> = 0.64) and total adverse event rate (RR = 0.87, 95% CI 0.53-1.42, <i>p</i> = 0.57). ACTH had an advantage in improving electroclinical response on the 14th day (RR = 1.46, 95% CI 1.09-1.96, <i>p</i> = 0.01) and reducing the number of months taken for relapse (mean difference = 1.65, 95% CI 1.01-2.29, <i>p</i> < 0.01). The cost of ACTH and prednisolone was 5,629.19 yuan and 5.56 yuan, respectively. Univariate sensitivity analysis showed the most influential factor was the cost of ACTH.</p><p><strong>Conclusions: </strong> There is insufficient evidence to determine whether ACTH or prednisolone is better in the short-term regimen of IESS. ACTH may have more advantages in improving the long-term outcome of IESS. In China, a prednisolone regimen of IESS has a lower cost within 14 days.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"102-110"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123272","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}
引用次数: 0
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies. 推进神经遗传性疾病的精准治疗和药物难治性癫痫的治疗。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-03-07 DOI: 10.1055/a-2536-9554
Ingo Borggraefe, Saskia Wortmann
{"title":"Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies.","authors":"Ingo Borggraefe, Saskia Wortmann","doi":"10.1055/a-2536-9554","DOIUrl":"https://doi.org/10.1055/a-2536-9554","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"56 2","pages":"67-68"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143586424","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}
引用次数: 0
Pulsatile Dexamethasone in Patients with Infantile Spasms: A Retrospective Analysis of a Unique Therapy Regime.
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-01-27 DOI: 10.1055/a-2524-9195
Dennis Reimer, Ulrich Brandl, Heike De Vries
{"title":"Pulsatile Dexamethasone in Patients with Infantile Spasms: A Retrospective Analysis of a Unique Therapy Regime.","authors":"Dennis Reimer, Ulrich Brandl, Heike De Vries","doi":"10.1055/a-2524-9195","DOIUrl":"10.1055/a-2524-9195","url":null,"abstract":"<p><strong>Objective: </strong> Infantile spasms (IS) are an age-specific epilepsy syndrome associated with poor outcomes. Sustained and early spasm control remains the main goal of therapy. We aimed to evaluate a unique pulsatile dexamethasone therapy regime in children with IS.</p><p><strong>Methods: </strong> Children with IS were treated with oral pulsatile-applied dexamethasone in the Children's Hospital Jena between 2002 and 2021, regardless of duration since IS onset or previous therapy (except ACTH). A prolonged initial pulse was given in case of insufficient response (standard: 5-7 days, prolonged: 10-14 days). We analyzed spasm reduction, electroencephalographic response, adverse reactions, neurodevelopmental status, and epileptic disorders at the last follow-up.</p><p><strong>Results: </strong> Included were 26 patients with a median age of 5.5 months (interquartile range 4-8) at IS onset and a mean follow-up of 6.2 years (standard deviation [SD] 3.99). Fifty percent had an unknown etiology. Patients received on average 10.8 pulses (SD 6.0); 69.2% achieved initial seizure freedom, however, 38.9% relapsed. Seventeen patients had an initial prolonged pulse, of those, 14 got initially seizure-free (82.4%). Sixty-four percent of the cases had a sustained spasm cessation after the third pulse. At the last follow-up, half of the patients had no persisting epileptic disorder; 22.2% had a favorable neurocognitive development. Patients with unknown etiology were more likely to achieve seizure freedom during therapy (<i>p</i> = 0.025), had a more favorable neurocognitive outcome (<i>p</i> = 0.049), and were less likely to suffer from epileptic disorders (<i>p</i> = 0.037). No serious adverse effects were observed.</p><p><strong>Conclusion: </strong> Our results show that our treatment is safe and leads to outcomes comparable to usually applied hormonal therapy regimes. Etiology remains the most influential factor.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"94-101"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053057","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}
引用次数: 0
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2. 玻璃体内酶替代治疗可减缓2型晚期婴儿蜡样脂褐质病视网膜病变。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-01-07 DOI: 10.1055/a-2510-5592
Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, Maximilian Gerhardt, Oliver Ehrt, Matthias Kurz, Harald Pudritz, Günther Rudolph, Christopher B Jackson, Esther M Maier
{"title":"Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.","authors":"Claudia S Priglinger, Carolina Courage, Amelie S Lotz-Havla, Maximilian Gerhardt, Oliver Ehrt, Matthias Kurz, Harald Pudritz, Günther Rudolph, Christopher B Jackson, Esther M Maier","doi":"10.1055/a-2510-5592","DOIUrl":"10.1055/a-2510-5592","url":null,"abstract":"<p><p>Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the <i>TPP1</i> gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.Intracerebroventricular enzyme replacement therapy (ICV-ERT) using recombinant human TPP1 (rhTPP-1) was shown to slow the neurological decline; however, it does not prevent loss of vision. Intravitreal rhTPP-1 (IVT-ERT) was described to halt retinal degeneration in a canine CLN2 model and a compassionate-use study in humans.We report on the clinical and ophthalmological outcome in an early-treated patient homozygous for a pathogenic variant in <i>TPP1</i> known to be associated with severe CLN2 retinopathy.He was started on ICV-ERT at the age of 40 months and 4 weekly IVT-ERT in one eye at the age of 60 months. The other eye served as untreated control.Baseline best corrected visual acuity (BCVA) was 0.5 with mild bull's eye maculopathy evident in both eyes. After 24 months of IVT-ERT, BCVA in the treated eye was 0.2 with bull's eye maculopathy sparing outer retinal layers, whereas the untreated eye had progressed to endstage retinopathy and BCVA <0.02. No intraocular side effects occurred.Our results provide further evidence that IVT-ERT appears to be safe and markedly delays retinal degeneration preserving visual function and increasing the patient's quality of life, especially if started early.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"142-146"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11888818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952446","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}
引用次数: 0
Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review. 新生儿因半巨脑畸形和结节性硬化症并发难治性癫痫:病例报告及文献回顾。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-01-15 DOI: 10.1055/a-2516-9103
Mathies Rondagh, Linda S de Vries, Lotte E van der Meeren, Selma C Tromp, Cacha M P C D Peeters-Scholte, Menno J P Toirkens, Sylke J Steggerda
{"title":"Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review.","authors":"Mathies Rondagh, Linda S de Vries, Lotte E van der Meeren, Selma C Tromp, Cacha M P C D Peeters-Scholte, Menno J P Toirkens, Sylke J Steggerda","doi":"10.1055/a-2516-9103","DOIUrl":"10.1055/a-2516-9103","url":null,"abstract":"<p><p>Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME.We present a case of a newborn with HME with a confirmed mutation in the <i>TSC-1</i> gene and describe the clinical course, findings on amplitude-integrated electroencephalography (aEEG), cranial ultrasound (CUS), MRI, and the postmortem evaluation. Furthermore, we conducted a comprehensive literature review of all reported newborns with HME and a genetically confirmed TSC mutation.This infant experienced therapy-resistant seizures after birth despite treatment with multiple antiseizure medications. CUS and MRI revealed HME of the left hemisphere. Early functional hemispherectomy, around the age of 3 months, was considered but dismissed after multidisciplinary evaluation, medical ethical consultation, and multiple discussions with the parents. Care was redirected due to worsening clinical and neurologic conditions, increasing respiratory insufficiency, and ongoing therapy-resistant seizures. Postmortem evaluation of the brain revealed hamartomatous brain changes and irregular gyration of the enlarged hemisphere. in addition, these changes were also present in the previously considered unaffected side, raising thoughts about the potential effectiveness of functional hemispherectomy.This case report illustrates that in cases with TSC abnormalities might not be confined solely to the initially considered affected side. This can have important therapeutic implications.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"133-141"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008818","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}
引用次数: 0
Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic. 小儿神经科门诊对不明原因的全面发育迟缓儿童的诊断方法。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-10-07 DOI: 10.1055/a-2430-0494
Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli
{"title":"Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.","authors":"Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli","doi":"10.1055/a-2430-0494","DOIUrl":"10.1055/a-2430-0494","url":null,"abstract":"<p><strong>Background: </strong> Global developmental delay (GDD) is a common pediatric disorder that affects up to 3% of children. Due to the heterogeneous etiology of GDD, diagnostic procedures and algorithms are complex and diverse. The aim of our study was to investigate the diagnostic yield of genetic, metabolic, and imaging studies in establishing the etiology of unexplained GDD (UGDD).</p><p><strong>Methods: </strong> In this retrospectively observational study, we examined the medical records of all children diagnosed with UGDD at the Department of Pediatric Neurology, University Medical Centre Ljubljana, Slovenia, between January and December 2019. We evaluated the effectiveness of various genetic, metabolic, and magnetic resonance imaging (MRI) tests in identifying the underlying cause of GDD. Additionally, we assessed subgroups of patients to determine whether any of the studied tests were particularly beneficial based on their clinical symptoms.</p><p><strong>Results: </strong> A total of 123 patients met the inclusion criteria, with a median age of 4.3 years (range, 0-16 years), of which 71 (57.7%) were males. Genetic diagnosis was established in 47.1% (58/123) of patients. Metabolic laboratory testing did not identify a metabolic disease in any of the tested participants (114/123) and MRI was critical for diagnosis in only 1/81 (1.2%) patient.</p><p><strong>Conclusion: </strong> Our findings strongly suggest that genetic testing surpasses MRI and metabolic testing in establishing the etiology of UGDD in a pediatric neurology outpatient setting. This information will help guide the diagnostic evaluation of these children.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"125-132"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11888819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392193","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}
引用次数: 0
Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders. 进行性肌阵挛癫痫及其他:SEMA6B相关疾病的系统综述。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-10-17 DOI: 10.1055/a-2442-5741
Mert Altıntaş, Miraç Yıldırım, Ömer Bektaş, Serap Teber
{"title":"Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders.","authors":"Mert Altıntaş, Miraç Yıldırım, Ömer Bektaş, Serap Teber","doi":"10.1055/a-2442-5741","DOIUrl":"10.1055/a-2442-5741","url":null,"abstract":"<p><p>Progressive myoclonus epilepsy (PME) is a rare, clinically and genetically heterogeneous epilepsy syndrome, and pathogenic variants in the semaphorin 6B (<i>SEMA6B</i>) gene have recently been reported to be among the causes of PME. Cases with pathogenic variants in the <i>SEMA6B</i> gene are extremely rare, only a limited number of cases have been reported in the literature. In this systematic review, we aimed to present a summary of a PME case in which a heterozygous nonsense variant of c.2086C > T p.(Gln696*) in the <i>SEMA6B</i> gene was detected in the etiology and other cases with SEMA6B pathogenic variant in the literature. Except for our case, 35 cases from 12 studies were included. The main clinical findings in these patients were cognitive problems, seizures, gait and speech disturbances, and cognitive and/or motor regression, and they had a wide spectrum of severity. Response to antiseizure medications was also highly variable, almost half of the patients had pharmacoresistant seizures. Patients were divided into four different phenotypic groups according to their clinical presentations: PME (18/36), developmental and epileptic encephalopathy (13/36), neurodevelopmental disorder (4/36), and epilepsy (1/36), respectively. In conclusion, although SEMA6B has been associated with PME, it may actually cause a much broader phenotypic spectrum. Due to their extreme rarity, our knowledge of SEMA6B-related disorders is limited. As with all other rare diseases, each new SEMA6B-related disorder case could contribute to a better understanding of the disease. A better understanding of the disease may allow the development of specific treatment options in the future.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"83-93"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471182","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}
引用次数: 0
Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic. 勘误:儿科神经病学门诊不明原因全面性发育迟缓儿童的诊断方法。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2025-01-16 DOI: 10.1055/s-0044-1801763
Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli
{"title":"Corrigendum: Diagnostic Approach to Children with Unexplained Global Developmental Delay in Pediatric Neurology Outpatient Clinic.","authors":"Airin Veronese, Damjan Osredkar, Luca Lovrečić, Anja Troha Gergeli","doi":"10.1055/s-0044-1801763","DOIUrl":"10.1055/s-0044-1801763","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"e1-e7"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008473","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}
引用次数: 0
Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study. 早产儿的振幅综合脑电图 (aEEG) - 一项前瞻性队列研究。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-10-09 DOI: 10.1055/a-2436-8767
Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil
{"title":"Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study.","authors":"Gayathri G Vinnakota, Leslie E Lewis, Shruthi K Bharadwaj, Jayashree Purkayastha, Anand K Patil","doi":"10.1055/a-2436-8767","DOIUrl":"10.1055/a-2436-8767","url":null,"abstract":"<p><strong>Objective: </strong> The study aimed to interpret and establish patterns of amplitude-integrated electroencephalogram (aEEG) in stable preterm neonates and compare the aEEG among different gestational age groups using three standard classifications.</p><p><strong>Methods: </strong> This prospective cohort study included stable preterm neonates between 24<sup>0/7</sup> and 36<sup>6/7</sup> weeks of gestation. aEEG was recorded in the first and second week of life and interpreted using the L. Hellström-Westas, Burdjalov, and Magalhães classification for background pattern, continuity, upper and lower margin amplitude, sleep-wake cycle, bandwidth, and presence of seizures. Subgroup analysis was performed based on ≤30 and >30 weeks' gestation.</p><p><strong>Results: </strong> A total of 76 aEEG recordings were analyzed from 45 preterm neonates. In the first week, 60% of the neonates had normal voltage patterns, which increased to 80% in the second week. All infants ≤30 weeks displayed discontinuous wave patterns during the first week, and half transitioned to continuous waves in the second week. The lower margin amplitude increased, and the upper margin amplitude decreased with increased gestational age. Additionally, 65% of neonates had a mature sleep-wake cycle in the second week compared with 22% in the first week. The median (interquartile range) CFM score in the second week was 12 (4.5) compared with 8 (4) in the first week, and the CFM score positively correlated with gestation (Spearman correlation coefficient, 0.8; 95% confidence interval, 0.7-0.86). Magalhães grading in both groups was predominantly normal.</p><p><strong>Conclusion: </strong> aEEG is predominantly a continuous normal voltage pattern in >30 weeks' gestation and discontinuous in ≤30 weeks' gestation. CFM score correlates positively with advancing gestation gestational age.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"111-118"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392192","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}
引用次数: 0
Severe Disease Activation after Fingolimod Discontinuation in a Pediatric Multiple Sclerosis Patient: A Case Report and Literature Review. 小儿多发性硬化症患者停药后严重疾病激活:1例报告和文献综述。
IF 1.1 4区 医学
Neuropediatrics Pub Date : 2025-04-01 Epub Date: 2024-12-05 DOI: 10.1055/a-2496-5294
Brenda Huppke, Heike de Vries, Astrid Blaschek, Peter Huppke
{"title":"Severe Disease Activation after Fingolimod Discontinuation in a Pediatric Multiple Sclerosis Patient: A Case Report and Literature Review.","authors":"Brenda Huppke, Heike de Vries, Astrid Blaschek, Peter Huppke","doi":"10.1055/a-2496-5294","DOIUrl":"10.1055/a-2496-5294","url":null,"abstract":"<p><p>Adult reports of unexpected severe disease worsening, often termed \"rebound,\" shortly after discontinuing fingolimod in a subset of patients with multiple sclerosis (MS), have grown over the last decade. This phenomenon, however, remains poorly described in pediatric MS patients. We present findings of a 15-year-old who experienced a debilitating relapse 4 weeks after stopping fingolimod to switch to ocrelizumab. Imaging revealed multiple large new lesions far exceeding any previously observed activity level in the patient. Despite prompt high-dose corticosteroids, plasma exchange, and prolonged rehabilitation therapy, significant residual deficits involving cognition, balance, and vision remain from the attack. This case underscores that pediatric MS patients are also at risk of severe disease deterioration after fingolimod withdrawal and require close monitoring when switching therapies.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"147-150"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786329","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}
引用次数: 0
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