Pediatric neurology最新文献

{"title":"The Value of Diffusion Tensor Imaging in Differential Diagnosis of Embryonal Tumors Occurring in the Brainstem and Brainstem Gliomas in Pediatric Patients.","authors":"Wenjiao Xiao, Shuang Li, Zanyong Tong, Lusheng Li, Yuting Zhang","doi":"10.1016/j.pediatrneurol.2024.11.011","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.011","url":null,"abstract":"<p><strong>Background: </strong>There are no apparent distinctions in clinical presentation or conventional imaging findings between brainstem gliomas and embryonal tumors occurring in the brainstem. Our aim was to study the role of diffusion tensor imaging in differentiating embryonal tumors from gliomas of the brainstem.</p><p><strong>Methods: </strong>Three cases of embryonal tumors occurring in the brainstem and 19 cases of brainstem gliomas were analyzed retrospectively.</p><p><strong>Result: </strong>The most common brainstem gliomas are diffuse intrinsic pontine gliomas. On the fiber tracking images, brainstem gliomas were associated with relatively intact projection fibers that continuously traversed the tumor and followed the trajectory of normal neural fibers, whereas embryonal tumors were associated with disruption of projection fibers. The close cellularity created tissues with significant directional properties in embryonal tumors, restricting the diffusion of water molecules. As a result, there were areas of high anisotropy within the embryonal tumors. Additionally, we observed that the apparent diffusion coefficient value of embryonal tumors occurring in the brainstem was lower than that of brainstem gliomas and the difference was statistically significant (P < 0.05).</p><p><strong>Conclusion: </strong>Disruption of projection fibers within the tumor on diffusion tensor imaging may help differentiate embryonal pathology from glial.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"58-65"},"PeriodicalIF":3.2,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847145","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":"Potential Pitfalls in Applying the Suzuki Classification in Moyamoya Disease.","authors":"Shunji Mugikura, Naoko Mori","doi":"10.1016/j.pediatrneurol.2024.11.009","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.009","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"45"},"PeriodicalIF":3.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142822122","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(24)00381-3","DOIUrl":"10.1016/S0887-8994(24)00381-3","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142719989","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":"PIK3CA-Related Overgrowth Spectrum: Exploring Brain Growth From Fetal to Infant.","authors":"Beatriz Parreira Andrade, Fátima Hierro, Jorge Castro, Josué Pereira, Joana Nunes, Joana Grenha","doi":"10.1016/j.pediatrneurol.2024.11.002","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.002","url":null,"abstract":"<p><strong>Background: </strong>Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum.</p><p><strong>Methods: </strong>We present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months. Prenatal imaging unveiled ventricular asymmetry, later confirmed postnatally as megalencephaly. Genetic analysis identified a PIK3CA mutation. The patient underwent early interventions, including ventriculoperitoneal shunt placement and posterior fossa decompression.</p><p><strong>Results: </strong>Despite early interventions, the patient developed progressive macrocrania, hydrocephalus, and significant neurodevelopmental delay. Multidisciplinary management and continuous neuroimaging were crucial in addressing complications associated with the disorder.</p><p><strong>Conclusions: </strong>This case underscores the critical need for multidisciplinary care and continual neuroimaging surveillance to effectively navigate the progressive complications associated with PIK3CA-related overgrowth spectrum. The diagnostic hurdles and management challenges intrinsic to the disorder's natural course are elucidated. Although current treatments manage symptoms, emerging therapies hold promise for improving patient outcomes.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"12-14"},"PeriodicalIF":3.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780595","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":"Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.","authors":"Qinrui Li, Zhao Xu, Jiong Qin, Zhixian Yang","doi":"10.1016/j.pediatrneurol.2024.10.018","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.10.018","url":null,"abstract":"<p><strong>Background: </strong>Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.</p><p><strong>Methods: </strong>We collected data from pediatric patients followed in Peking University People's Hospital from July 2018 to April 2024.</p><p><strong>Results: </strong>Thirteen children harboring PTEN variants were identified (mean age, 4.1 years). All the children (100%) with PTEN variants exhibited macrocephaly, 92.3% (12 of 13) had developmental delays, and 38.5% (five of 13) were diagnosed with autism spectrum disorder. Among the 13 children, 15.4% (two of 13) had epilepsy, and both responded well to antiseizure medications. Furthermore, we reviewed published articles on PTEN variants and epilepsy. We found seven studies of 665 pediatric patients with PTEN variants, including 26 patients with epilepsy. Among the 26 epileptic patients, information about the number and response to antiseizure medications was available for only 14 patients, and 15 patients had information about seizure types. Focal seizures were the most common seizure type (10 of 15, 66.7%). Only 28.6% (four of 14) of patients were diagnosed with drug-resistant epilepsy, and all patients (four of four) had abnormal brain magnetic resonance imaging findings.</p><p><strong>Conclusions: </strong>In summary, a high proportion of pediatric patients with PTEN variants have developmental delay. Among epileptic patients, the most common seizure type is focal seizures, and these patients are more likely to respond to antiseizure medications if their brain imaging results are normal. Further large-scale studies are necessary to characterize the clinical characteristics of pediatric patients with epilepsy harboring PTEN variants and establish standard treatments.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"35-44"},"PeriodicalIF":3.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791715","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":"Acute Liver Injury Following Delandistrogene Moxeparvovec Gene Therapy Requiring Intravenous Immunoglobulin","authors":"Ruthwik Duvuru MBBS ,&nbsp;Serena Neumann MSN, APRN ,&nbsp;Eniya Beemarajan MBBS ,&nbsp;W. Bryan Burnette MD ,&nbsp;Rachel Cox RN ,&nbsp;Saeed Mohammad MD ,&nbsp;Arunkumar J. Modi MD ,&nbsp;Megan W. Butler MD ,&nbsp;Jonathan Soslow MD ,&nbsp;Aravindhan Veerapandiyan MD","doi":"10.1016/j.pediatrneurol.2024.11.005","DOIUrl":"10.1016/j.pediatrneurol.2024.11.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743634","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":"Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit.","authors":"Trajano Aguiar Pires Gonçalves, Maria Clara Zanon Zotin, Carolina Lavigne Moreira, Rodrigo Siqueira Soares Frezatti, Antonio Carlos Santos, Wilson Marques Junior, Pedro José Tomaselli","doi":"10.1016/j.pediatrneurol.2024.11.006","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.006","url":null,"abstract":"<p><strong>Background: </strong>Hopkins syndrome is a rare polio-like syndrome, with an incompletely understood pathophysiology, that affects children after asthma crisis.</p><p><strong>Methods: </strong>A 10-year-old girl was admitted to the intensive care unit following a severe asthma attack, requiring mechanical ventilation for a period of five days. After regaining consciousness, the patient exhibited development of asymmetric flaccid paraparesis. Neuroaxis magnetic resonance imaging revealed contrast enhancement in the anterior lumbar roots, with the enhancement originating at the T11 level and extending downward on axial series. Nerve conduction study revealed the absence of compound muscle action potentials in the tibialis and peroneal nerves on the left, with preserved sensory nerve action potentials.</p><p><strong>Results: </strong>Based on the patient's clinical phenotype, which was most consistent with a polio-like syndrome arising acutely following an asthmatic crisis, the diagnosis of Hopkins syndrome was established.</p><p><strong>Conclusion: </strong>Hopkins syndrome is a rare polio-like syndrome that is probably underdiagnosed and has a poor motor prognosis.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"4-6"},"PeriodicalIF":3.2,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142770816","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":"Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.","authors":"Andrea Bauchat, Andre Stokhuyzen, Timothy A Driscoll, Paul L Martin, Joanne Kurtzberg, Kris M Mahadeo, Vinod K Prasad","doi":"10.1016/j.pediatrneurol.2024.11.004","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.004","url":null,"abstract":"<p><strong>Background: </strong>Hematopoietic cell transplantation (HCT) is the standard of care treatment for children with Hurler syndrome (HS). This study describes the impact of newborn screening (NBS) on HCT outcomes for these patients.</p><p><strong>Methods: </strong>Retrospective study of HS patients diagnosed through NBS and referred to Duke from 2017 to 2023. Patients received a myeloablative busulfan-based regimen and unrelated umbilical cord blood HCT, with cyclosporine and mycophenolate for graft-versus-host-disease prophylaxis.</p><p><strong>Results: </strong>Patients (N =9) were transplanted at a median age of 5.2 months and median weight of 7.8 kg. Median reinfused total nucleated cell was 14.8 × 10⁷/kg. The median times to neutrophil and platelet engraftment were 17 and 48 days, respectively. No primary graft failures or rejections were observed. Post-HCT complications included sinusoidal obstructive syndrome, microangiopathy and autoimmune hemolytic anemia. At median follow-up of 29.1 months (range 4.1-72.2), 8 of 9 patients were alive with normal alpha-L-iduronidase (IDUA) levels, Lansky scores of 90-100%, and developing milestones. One patient died due to autoimmune hemolytic anemia on day +139 (with normal IDUA level and >98% donor chimerism at day +100).</p><p><strong>Conclusions: </strong>Early umbilical cord blood transplant during infancy of HS patients diagnosed through NBS is safe, feasible, and corrects IDUA enzyme deficiency. Follow-up studies will ascertain the long-term benefits of this approach.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"21-26"},"PeriodicalIF":3.2,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791805","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":"Corrigendum to Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex [Pediatric Neurology, Volume 161, December 2024, Pages 170-175].","authors":"Nicolò Trevisan, Francesco Brunello, Fabio Sambataro, Gaia Biscalchin, Margherita Nosadini, Stefano Sartori, Concetta Luisi, Maria Federica Pelizza, Renzo Manara, Irene Toldo","doi":"10.1016/j.pediatrneurol.2024.10.011","DOIUrl":"10.1016/j.pediatrneurol.2024.10.011","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":" ","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625023","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":"Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.","authors":"Eva Gutiérrez-Delicado, Marta García-Fernández, Nelmar Valentina Ortiz Cabrera, Víctor Soto Insuga, María Justel Rodríguez, Anna Duat-Rodríguez, Anne G Caicoya, Juan Álvarez-Linera Prado, Inés Solís Muñiz, María Ángeles Pérez-Jiménez","doi":"10.1016/j.pediatrneurol.2024.11.003","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.11.003","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.</p><p><strong>Methods: </strong>We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.</p><p><strong>Results: </strong>A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.</p><p><strong>Conclusions: </strong>Two phenotypes have been identified: 1) three patients presented with developmental and epileptic encephalopathy with focal seizures and epileptic spasms, along with a complex malformation of cortical development within the lissencephaly spectrum, and 2) the fourth patient exhibited developmental and epileptic encephalopathy with spike-and-wave activation in sleep along with bifrontal polymicrogyria. Notably, this is the first reported case of polymicrogyria and epileptic encephalopathy with spike-and-wave activation in sleep with evidence of an underlying genetic disorder.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"7-11"},"PeriodicalIF":3.2,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780591","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}