Pediatric neurology最新文献

{"title":"A Case of Wernicke-Korsakoff Encephalopathy in a Child With Refractory Epilepsy on Ketogenic Diet","authors":"Frances K. Hanson MD, Samantha Cermignano MD, Matei S. Petrescu MD, Sreenivas K. Avula MD","doi":"10.1016/j.pediatrneurol.2025.07.001","DOIUrl":"10.1016/j.pediatrneurol.2025.07.001","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 8-10"},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144721738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fast-Sequence Limited Magnetic Resonance Imaging Brain Protocol for Surveillance for Subependymal Lesions and Associated Hydrocephalus in Pediatric Tuberous Sclerosis Complex","authors":"Alp Oztek MD ,&nbsp;Elizabeth Tang MD ,&nbsp;Susanne Yoon MD ,&nbsp;Dennis Shaw MD ,&nbsp;Stephanie Randle MD","doi":"10.1016/j.pediatrneurol.2025.07.003","DOIUrl":"10.1016/j.pediatrneurol.2025.07.003","url":null,"abstract":"<div><h3>Background</h3><div>Tuberous sclerosis complex (TSC) is a genetic disorder that can cause multiorgan hamartomas. The brain is often affected by cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma (SEGA). Consensus guidelines recommend frequent brain magnetic resonance imaging (MRI), in the pediatric population, to monitor for SEGA. This study compares the effectiveness of fast-sequence nonsedated limited MRI with standard MRI.</div></div><div><h3>Methods</h3><div>Fifty-one patients with TSC had both MRIs. Two attending pediatric neuroradiologists measured subependymal lesions, lateral ventricle diameter, and changes in measurements compared with the most recent prior MRI.</div></div><div><h3>Results</h3><div>Sixty-five percent of patients required sedation for standard MRI. The mean age was 8.7 years. There was no significant difference between radiologists in identifying SEGA or measuring lateral ventricle size, regardless of imaging type. However, Radiologist A measured subependymal lesions smaller than Radiologist B. There was a statistically significant difference in lesion measurement on the anteroposterior (AP) view, with an average 0.6 mm smaller (<em>P</em> = 0.028) on limited MRI compared with standard MRI. There was no significant difference in the transverse view measurement (<em>P</em> = 0.77) or lateral ventricle size (<em>P</em> = 0.57). Additionally, there was no significant difference in the percent change of subependymal lesions over time between the two imaging types (transverse view <em>P</em> = 0.95, AP view <em>P</em> = 0.52).</div></div><div><h3>Conclusions</h3><div>Limited MRI reduces health care costs, repetitive sedation, and MRI scanner time, overall requiring less hospital resources. Limited MRI is clinically similar in accuracy to standard MRI. Limited MRI should be incorporated in the assessment of SEGA in pediatric TSC.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 21-27"},"PeriodicalIF":2.1,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144739291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(25)00194-8","DOIUrl":"10.1016/S0887-8994(25)00194-8","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"169 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144570575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survey of Child Neurologists Highlights a Missed Opportunity for Identifying and Treating Motor Impairments in Autism","authors":"Harika Kottakota MD ,&nbsp;Emily Hotez PhD ,&nbsp;Rujuta B. Wilson MD, MS","doi":"10.1016/j.pediatrneurol.2025.06.025","DOIUrl":"10.1016/j.pediatrneurol.2025.06.025","url":null,"abstract":"<div><h3>Background</h3><div>Motor impairments, such as motor delays, atypical gait, dyspraxia, and poor coordination, are highly prevalent among individuals with autism spectrum disorder (ASD). Motor impairments are detrimental to multiple aspects of development but are often underdiagnosed and undertreated in children and adolescents with ASD. Child neurologists are specialists who provide clinical care for autistic patients across the lifespan. However, little is known about how child neurologists understand, diagnose, and treat motor impairments in children with ASD.</div></div><div><h3>Methods</h3><div>In this preliminary study, we surveyed child neurologists (N = 100) on their knowledge of and clinical practices addressing motor impairments in pediatric patients with ASD. Our survey also sought to identify potential barriers to care and medical education efforts that may mitigate existing gaps.</div></div><div><h3>Results</h3><div>We found most child neurologists were not confident that motor impairments were an associated feature of ASD, do not frequently evaluate for motor impairments, lack sufficient tools for motor evaluations with autistic children, face multiple barriers to providing interventions, and do not receive adequate clinical training regarding this topic.</div></div><div><h3>Conclusions</h3><div>These preliminary findings suggest that substantial gaps in awareness about motor impairments in ASD persist among practicing child neurologists. Though child neurologists are trained to assess motor function, our results highlight a missed opportunity in the setting of ASD. Child neurologists would benefit from greater attention and resources to learn, evaluate, and treat motor impairments as part of holistic patient care for individuals with ASD.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"171 ","pages":"Pages 11-20"},"PeriodicalIF":2.1,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Treatment of Pediatric Neurosarcoidosis With Corticosteroids, Infliximab, and Methotrexate","authors":"Ruixiang Sun MD ,&nbsp;Andrea Bakker MD ,&nbsp;Rebeka Stevenson MD ,&nbsp;Xing-Chang Wei MD ,&nbsp;Kristine Woodward MD ,&nbsp;Juan Pablo Appendino MD","doi":"10.1016/j.pediatrneurol.2025.06.024","DOIUrl":"10.1016/j.pediatrneurol.2025.06.024","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 110-112"},"PeriodicalIF":3.2,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Seizure Outcome After Epilepsy Surgery in Pediatric Patients With Low-Grade Developmental and Epilepsy-Associated Brain Tumors","authors":"Florian Mayer MD ,&nbsp;Matthias Tomschik MD ,&nbsp;Johannes Zielke MD ,&nbsp;Magdalena Vass MSc, MD ,&nbsp;Birgit Pimpel MD, PhD ,&nbsp;Katharina Moser MD ,&nbsp;Sarah Glatter MSc, MD ,&nbsp;Gregor Kasprian MBA, MD ,&nbsp;Amedeo A. Azizi MD ,&nbsp;Johannes Gojo BSc, MD, PhD ,&nbsp;Christian Dorfer MBA, MD ,&nbsp;Karl Roessler MD ,&nbsp;Martha Feucht MD","doi":"10.1016/j.pediatrneurol.2025.06.021","DOIUrl":"10.1016/j.pediatrneurol.2025.06.021","url":null,"abstract":"<div><h3>Background</h3><div>Low-grade developmental and epilepsy-associated brain tumors (LEATs) are common causes of childhood-onset drug-resistant focal epilepsies. Although epilepsy surgery shows favorable outcomes in most patients, approximately 20%-30% of them do not become seizure free. This study aimed to identify predictors of postoperative outcomes and seizure recurrence, either spontaneously or after antiseizure medication (ASM) tapering, in a pediatric cohort with LEATs.</div></div><div><h3>Methods</h3><div>This retrospective cohort study included pediatric patients with LEAT-associated epilepsy who underwent preoperative evaluation and epilepsy surgery at the Medical University of Vienna pediatric epilepsy center from 1993 through 2023. We analyzed the impact of clinical and demographic parameters on spontaneous- or ASM-reduction-related seizure recurrence.</div></div><div><h3>Results</h3><div>In total, 82 patients were included. The median age at surgery was 10.2 years (interquartile range [IQR], 5.3-14.0) and the median follow-up was 60 months (IQR, 36-120); 74.4% of patients became seizure free. ASM discontinuation was successful in 80% of cases. Despite incomplete resections being the strongest predictor of unfavorable outcomes at final follow-up (odds ratio, 53.5; 95% confidence interval = 8.5-337.1; <em>P</em> &lt; 0.001), 33% of patients with unfavorable outcomes had undergone complete resections. These patients had a significantly longer epilepsy duration before surgery than those with incomplete resections and unfavorable outcomes (84.1 vs 12.9 months; <em>P</em> = 0.02).</div></div><div><h3>Conclusions</h3><div>Complete tumor resection is essential in patients with LEATs. However, especially in patients with longer epilepsy duration, the epileptogenic zone may exceed the epileptogenic lesion, and exclusive resection of the tumor may therefore not be sufficient to achieve seizure freedom. This fact underscores the importance of early preoperative evaluation.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 120-127"},"PeriodicalIF":3.2,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epileptic Spasms in Septo-Optic-Pituitary Dysplasia: A Retrospective Cohort Study","authors":"Lisa B.E. Shields MD ,&nbsp;Seema Shahi MD ,&nbsp;Grae McCarty BS ,&nbsp;Megana Iyer BS ,&nbsp;Emily Singer MD ,&nbsp;Cemal Karakas MD","doi":"10.1016/j.pediatrneurol.2025.06.019","DOIUrl":"10.1016/j.pediatrneurol.2025.06.019","url":null,"abstract":"<div><h3>Background</h3><div>To assess the prevalence, clinical characteristics, and outcomes of epileptic spasms (ES) in patients with septo-optic-pituitary dysplasia (SOD).</div></div><div><h3>Methods</h3><div>A retrospective chart review was conducted on patients aged &lt;21 years diagnosed with both SOD and ES between 2012 and 2023. Clinical and neuroimaging data were analyzed, as well as electroencephalographic (EEG) findings and long-term outcomes.</div></div><div><h3>Results</h3><div>Among 105 patients with SOD, seven (6.7%) were diagnosed with ES. The mean age of ES onset was 8.2 months (range: 0.1-13.3 months), with a female predominance (71.4%). Neuroimaging revealed optic nerve hypoplasia, an absent septum pellucidum, and schizencephaly in all patients. A dysplastic corpus callosum and a small pituitary gland size were noted in one (14.3%) patient. Two (28.6%) patients had comorbid diabetes insipidus. All patients experienced severe developmental delays and were nonverbal and nonambulatory. EEG analysis showed a hypsarrhythmia pattern in four (57.1%) cases. The mean age at last follow-up was 9.9 years (range: 4.6-15.6 years). All patients developed drug-resistant epilepsy; only one had complete resolution of the seizures. Five (71.4%) patients developed Lennox-Gastaut syndrome (LGS).</div></div><div><h3>Conclusions</h3><div>ES have a relatively high prevalence, occurring in 6.7% of patients with SOD, and are linked with significant neurodevelopmental delays and a high risk of progression to LGS. Clinicians should maintain a high index of suspicion for ES in patients with SOD, as early identification and management may impact long-term neurodevelopmental outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 98-105"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144631598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Periventricular Inflammation and Toll-Like Receptor-4 Expression Is Present in Early Congenital Hydrocephalus","authors":"Victor M. Lu MD, PhD ,&nbsp;Rosa I. Muñoz PhD ,&nbsp;Karin Vío PhD ,&nbsp;Monserrat Guerra PhD","doi":"10.1016/j.pediatrneurol.2025.06.022","DOIUrl":"10.1016/j.pediatrneurol.2025.06.022","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 118-119"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the Association Between Infantile Colic and Parental Migraine","authors":"Toshiyuki Hikita MD, PhD,&nbsp;Keiichirou Isozaki MD,&nbsp;Kaori Ogita MD, PhD,&nbsp;Fusako Hikita MD, PhD,&nbsp;Hiroyuki Hikita MD, PhD","doi":"10.1016/j.pediatrneurol.2025.06.020","DOIUrl":"10.1016/j.pediatrneurol.2025.06.020","url":null,"abstract":"<div><h3>Background</h3><div>To estimate the prevalence of infantile colic and determine its associated factors. Previous studies demonstrate that maternal migraine is significantly associated with increased odds of infantile colic. However, paternal migraine is not significantly associated with infantile colic.</div></div><div><h3>Methods</h3><div>We conducted a cross-sectional study of infants and parents. We surveyed all parents who brought healthy babies aged ≥3 months to our clinic. We determined the association of infantile colic with the following: child being the first- or nonfirst-born, breastfed or mixed- or formula-fed, sleeping without family or with family, and the mother and father having a history of migraine without or with aura. Odds ratios (ORs) and 95% confidence intervals were reported.</div></div><div><h3>Results</h3><div>We included 352 babies (174 girls and 178 boys). Of these, 15 babies (4.3%; 7 girls and 8 boys) were diagnosed with infantile colic based on the International Classification of Headache Disorders criteria. The prevalence of infantile colic among the children of fathers with a history of migraine without aura (12.8%) (<em>P</em> = 0.027) was significantly higher than that among the children of fathers who did not have a history of migraine (3.5%). Maternal migraine without aura was significantly associated with increased odds of infantile colic (OR: 3.23 [1.03-10.14]). Paternal migraine without aura was significantly associated with increased odds of infantile colic (OR: 4.08 [1.26-13.2]).</div></div><div><h3>Conclusions</h3><div>In this study, both maternal and paternal migraines without aura were associated with increased odds of infantile colic, suggesting a genetic influence.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 113-117"},"PeriodicalIF":3.2,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144655469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dramatic Response to Neurostimulation in Children With Medically Intractable Epilepsy Related to Pseudoisodicentric Chromosome 15q Duplication: A Case Series","authors":"Trevor Lockard MD,&nbsp;Sookyong Koh MD, PhD,&nbsp;Drew M. Thodeson MD","doi":"10.1016/j.pediatrneurol.2025.06.014","DOIUrl":"10.1016/j.pediatrneurol.2025.06.014","url":null,"abstract":"<div><h3>Background</h3><div>15q11-q13 duplications (dup15q syndrome) in children with neurodevelopmental disorder may present with variable epilepsy phenotypes. The more common pseudoisodicentric or isodicentric chromosome 15 duplication often presents with medically refractory epilepsy. This case series illustrates 3 cases with dramatic response to neurostimulation in dup15q syndrome with medically refractory epilepsy.</div></div><div><h3>Methods</h3><div>We present 3 clinical cases analyzed by querying the medical record. Demography, medical history, and treatment efficacy were systematically reported and analyzed.</div></div><div><h3>Results</h3><div>All 3 cases showed dramatic response to neurostimulation where medication management failed. Treatment responses ranged from greater than 90% reduction in seizure frequency to seizure freedom. Moreover, all patients showed clinically significant developmental gains.</div></div><div><h3>Conclusions</h3><div>Neurostimulation produced dramatic seizure reduction in our cohort of dup15q syndrome. Early neurostimulation should be considered in medically refractory epilepsy in dup15q syndrome. Further clinical trials investigating the efficacy of neurostimulation will be helpful in this rare neurodevelopmental condition.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"170 ","pages":"Pages 129-132"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144663648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}