Pediatric neurology最新文献

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Sacral Agenesis 骶骨发育不全。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.10.020
Monserrat Sánchez-Romero MD , Libia Tlaxcala-Castillo MD , Pavel Salvador Pichardo-Rojas MD , Marco-Antonio Valencia-Melo MD , Ángel-Antonio Paz-López MD , Fabián Sánchez-Sagastegui MD, PhD , Talia Wegman-Ostrosky , The International Sacral Agenesis/Caudal Regression Association
{"title":"Sacral Agenesis","authors":"Monserrat Sánchez-Romero MD ,&nbsp;Libia Tlaxcala-Castillo MD ,&nbsp;Pavel Salvador Pichardo-Rojas MD ,&nbsp;Marco-Antonio Valencia-Melo MD ,&nbsp;Ángel-Antonio Paz-López MD ,&nbsp;Fabián Sánchez-Sagastegui MD, PhD ,&nbsp;Talia Wegman-Ostrosky ,&nbsp;The International Sacral Agenesis/Caudal Regression Association","doi":"10.1016/j.pediatrneurol.2024.10.020","DOIUrl":"10.1016/j.pediatrneurol.2024.10.020","url":null,"abstract":"<div><div>Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: \"rare disease,\" \"caudal regression,\" \"diabetic embryopathy,\" and \"sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 27-34"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791872","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}
引用次数: 0
Lived Experience of Patients and Caregivers in Rare Genetic Neurological Gene Therapy Clinical Trials in Children 儿童罕见遗传神经基因治疗临床试验中患者和护理人员的生活经验。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.001
Alison Bateman-House MA, MPH, PhD , Kirsten Cowley BS , Vivian Fernandez BS , Michelle Gilmor PhD , Cara Hunt BS , Marie-Laure Nevoret MD , Erin Ward MEd CAS , Lesha D. Shah MD , Jared B. Smith PhD
{"title":"Lived Experience of Patients and Caregivers in Rare Genetic Neurological Gene Therapy Clinical Trials in Children","authors":"Alison Bateman-House MA, MPH, PhD ,&nbsp;Kirsten Cowley BS ,&nbsp;Vivian Fernandez BS ,&nbsp;Michelle Gilmor PhD ,&nbsp;Cara Hunt BS ,&nbsp;Marie-Laure Nevoret MD ,&nbsp;Erin Ward MEd CAS ,&nbsp;Lesha D. Shah MD ,&nbsp;Jared B. Smith PhD","doi":"10.1016/j.pediatrneurol.2024.11.001","DOIUrl":"10.1016/j.pediatrneurol.2024.11.001","url":null,"abstract":"<div><div>To date, sparse attention has been paid to the importance of the “lived experience” of participants and their caregivers in pediatric gene therapy (GT) trials for rare genetic neurological disorders. Pediatric GT studies differ meaningfully from adult GT studies as the decision to participate involves a dyad: the child participant and their caregiver(s). As a multistakeholder group of authors, we are a diverse group with expert perspectives on the social, emotional, physical, and logistical burdens/benefits of trial participation and the myriad ways they affect pediatric GT research. For both pragmatic and ethical reasons, it is essential to prioritize addressing child participant and adult caregiver needs and concerns when designing and conducting GT clinical trials in pediatric populations with rare genetic neurological disorders. We use the term “lived experience” in reference to how people think about and make decisions regarding participation in research studies and how they articulate the emotional, social, ethical, and equity tradeoffs that impact their lives and illness experience. In this article, we describe why accounting for child participants' and adult caregivers’ lived experience and addressing pertinent equity issues are essential when designing and conducting pediatric GT trials for rare genetic neurological diseases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 46-49"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142821820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Potential Pitfalls in Applying the Suzuki Classification in Moyamoya Disease 在烟雾病中应用铃木分类法的潜在缺陷。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.009
Shunji Mugikura MD, PhD, Naoko Mori MD, PhD
{"title":"Potential Pitfalls in Applying the Suzuki Classification in Moyamoya Disease","authors":"Shunji Mugikura MD, PhD,&nbsp;Naoko Mori MD, PhD","doi":"10.1016/j.pediatrneurol.2024.11.009","DOIUrl":"10.1016/j.pediatrneurol.2024.11.009","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Page 45"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","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}
引用次数: 0
PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant pik3ca相关的过度生长谱:探索胎儿到婴儿的大脑发育。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.002
Beatriz Parreira Andrade MD , Fátima Hierro MD , Jorge Castro MD , Josué Pereira MD , Joana Nunes MD , Joana Grenha MD
{"title":"PIK3CA-Related Overgrowth Spectrum: Exploring brain growth from fetus to infant","authors":"Beatriz Parreira Andrade MD ,&nbsp;Fátima Hierro MD ,&nbsp;Jorge Castro MD ,&nbsp;Josué Pereira MD ,&nbsp;Joana Nunes MD ,&nbsp;Joana Grenha MD","doi":"10.1016/j.pediatrneurol.2024.11.002","DOIUrl":"10.1016/j.pediatrneurol.2024.11.002","url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 12-14"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","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}
引用次数: 0
Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder CDKL5缺乏性障碍患者癫痫住院负担的测量
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.010
Mohammed Junaid PhD , Kingsley Wong MBBS, MPH, MMedStat , Minna A. Korolainen PhD , Sam Amin MBChB, PhD , Jenny Downs PhD , Helen Leonard MBChB, MPH
{"title":"Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder","authors":"Mohammed Junaid PhD ,&nbsp;Kingsley Wong MBBS, MPH, MMedStat ,&nbsp;Minna A. Korolainen PhD ,&nbsp;Sam Amin MBChB, PhD ,&nbsp;Jenny Downs PhD ,&nbsp;Helen Leonard MBChB, MPH","doi":"10.1016/j.pediatrneurol.2024.11.010","DOIUrl":"10.1016/j.pediatrneurol.2024.11.010","url":null,"abstract":"<div><h3>Background</h3><div>Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.</div></div><div><h3>Methods</h3><div>Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes. These variables were examined according to gender, age group, genetic variant group, and lifetime number of antiseizure medications. Using negative binomial regression associations were expressed as incidence rate ratios and geometric mean ratios for hospitalization rates and length of stay, respectively.</div></div><div><h3>Results</h3><div>There were 2880 hospitalizations over 2728.4 person-years with two thirds seizure related. Infants were much more likely to be hospitalized than older individuals, with decreasing effect sizes with increasing age. Males had slightly higher rates of hospitalizations for seizure-related management and for non-seizure-related admissions. Lifetime use of six or more antiseizure medications was associated with a higher hospitalization rate for seizure management than use of three or fewer medications. The median length of stay was five days for seizure and nonseizure reasons.</div></div><div><h3>Conclusion</h3><div>There is an urgent need for much better seizure management in CDKL5 deficiency disorder given the hospitalization burden especially in the preschool age group and the multiplicity of antiseizure medications being used.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 68-75"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872777","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}
引用次数: 0
Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy 颅超声在缺氧缺血性脑病脑损伤研究中的应用。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.10.019
Aine Fox MRCPI, PhD , Rocco Cuzzilla MD, PhD , Ailbhe Tarrant MB, MSc, AFRRCSI , Adam Reynolds MRCPI, PhD , Michael Geary MD, DCH , Miriam Martinez-Biarge MD, PhD , Breda Hayes MD
{"title":"Utility of Cranial Ultrasound to Investigate Brain Injury in Hypoxic-Ischemic Encephalopathy","authors":"Aine Fox MRCPI, PhD ,&nbsp;Rocco Cuzzilla MD, PhD ,&nbsp;Ailbhe Tarrant MB, MSc, AFRRCSI ,&nbsp;Adam Reynolds MRCPI, PhD ,&nbsp;Michael Geary MD, DCH ,&nbsp;Miriam Martinez-Biarge MD, PhD ,&nbsp;Breda Hayes MD","doi":"10.1016/j.pediatrneurol.2024.10.019","DOIUrl":"10.1016/j.pediatrneurol.2024.10.019","url":null,"abstract":"<div><h3>Background</h3><div>With increasing availability of brain magnetic resonance imaging (MRI) in high-income countries, cranial ultrasound (cUS) is used less frequently to evaluate infants with hypoxic-ischemic encephalopathy (HIE). This study aimed to correlate findings of brain injury on early postnatal cUS with brain injury on neonatal brain MRI performed as part of routine clinical care for near-term and term infants with moderate to severe HIE.</div></div><div><h3>Methods</h3><div>This was a retrospective cohort study comparing early postnatal cUS and later neonatal brain MRI using scoring systems with prognostic validity to assess brain injury in near-term/term infants with moderate or severe HIE. Infants were born between 2010 and 2021 and were treated at a single tertiary neonatal intensive care unit.</div></div><div><h3>Results</h3><div>A total of 94 infants were included in this study. cUS was performed in the first five days after birth and brain MRI at a median of 6.7 days (interquartile range 5.4, 7.9). Findings of white matter injury on cUS &lt;24 hours and gray matter injury on cUS &gt;48 hours correlated with similar nature and severity of brain injury on brain MRI. Subgroup analyses of cUS performed &lt;24 and &gt;48 hours and contemporaneous brain MRI performed on days 3 to 5 provided stronger evidence for correlations of brain injury between neuroimaging modalities.</div></div><div><h3>Conclusion</h3><div>This study provides evidence for the correlation of findings of brain injury between cUS and brain MRI. Early postnatal cUS can provide information on potential findings on brain MRI and may help inform outcome of newborns in low-middle income countries and situations where MRI is not clinically possible.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 15-20"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791893","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}
引用次数: 0
Neonatal Seizures and Associated Neurobehavioral Profiles in Preschool Age Children 学龄前儿童的新生儿癫痫发作和相关神经行为特征。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.008
Allyssa M. Mattes PhD , Renée A. Shellhaas MD, MS , Hannah C. Glass MD , Julie Sturza MS , Stephanie Rau MS , Monica Lemmon MD , Elizabeth E. Rogers MD , Adam Numis MD , Janet S. Soul MDCM , Madison Berl PhD , Courtney J. Wusthoff MD, MS , Catherine J. Chu MD , Shavonne L. Massey MD , Cameron Thomas MD, MS , Linda S. Franck RN, PhD , Charles E. McCulloch PhD , Guilia M. Benedetti MD , Justin Means , Katie Means , Tayyba Anwar MD , Jennifer C. Gidley Larson PhD
{"title":"Neonatal Seizures and Associated Neurobehavioral Profiles in Preschool Age Children","authors":"Allyssa M. Mattes PhD ,&nbsp;Renée A. Shellhaas MD, MS ,&nbsp;Hannah C. Glass MD ,&nbsp;Julie Sturza MS ,&nbsp;Stephanie Rau MS ,&nbsp;Monica Lemmon MD ,&nbsp;Elizabeth E. Rogers MD ,&nbsp;Adam Numis MD ,&nbsp;Janet S. Soul MDCM ,&nbsp;Madison Berl PhD ,&nbsp;Courtney J. Wusthoff MD, MS ,&nbsp;Catherine J. Chu MD ,&nbsp;Shavonne L. Massey MD ,&nbsp;Cameron Thomas MD, MS ,&nbsp;Linda S. Franck RN, PhD ,&nbsp;Charles E. McCulloch PhD ,&nbsp;Guilia M. Benedetti MD ,&nbsp;Justin Means ,&nbsp;Katie Means ,&nbsp;Tayyba Anwar MD ,&nbsp;Jennifer C. Gidley Larson PhD","doi":"10.1016/j.pediatrneurol.2024.11.008","DOIUrl":"10.1016/j.pediatrneurol.2024.11.008","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal seizures are common with acute brain injury. Up to 25% of survivors develop postneonatal epilepsy. We hypothesized postneonatal epilepsy diagnosed by age 24 months would increase risk for early markers of neurobehavioral disorders than acute provoked neonatal seizures alone.</div></div><div><h3>Methods</h3><div>Neonates with acute provoked seizures born from July 2015 to March 2018 were enrolled at nine <em>Neonatal Seizure Registry</em> sites. Composite scores from parent-completed standardized ratings assessed Adaptive, Social, Externalizing, Internalizing, Self-Regulation, and Sensory Seeking domains. Linear regression demonstrated relationships between composite scores for children who developed postneonatal epilepsy compared with those who did not. Results were adjusted for seizure etiology, sex, gestational age, and cerebral palsy (CP) severity.</div></div><div><h3>Results</h3><div>A total of 151 children (<em>n</em> = 20, 13% with postneonatal epilepsy), 4.1 years median age, participated. Children with epilepsy had impaired adaptive (Cohen <em>d</em> = 1.62, <em>P</em> &lt; 0.0001), social (Cohen <em>d</em> = 0.86, <em>P</em> = 0.004), and executive functioning (Cohen <em>d</em> = 0.56, <em>P</em> = 0.06) compared with children without epilepsy. Mean scores for children without epilepsy were within average range. Risk for impairment among children with epilepsy persisted after adjusting for neonatal seizure etiology, sex, and gestational age, but not when adjusting for CP severity.</div></div><div><h3>Conclusions</h3><div>There was higher incidence of adverse neurobehavioral outcomes among preschool children diagnosed with postneonatal epilepsy compared with those without epilepsy. CP severity was associated with greater impairment; results also suggest that epilepsy is an independent predictor of adaptive functioning. Children with postneonatal epilepsy should be screened for neurobehavioral problems to facilitate early identification and developmental support.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 76-81"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872778","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}
引用次数: 0
Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review 小儿PTEN变异患者的癫痫和发育迟缓及文献综述。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.10.018
Qinrui Li PhD , Zhao Xu PhD , Jiong Qin MD, PhD , Zhixian Yang PhD
{"title":"Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review","authors":"Qinrui Li PhD ,&nbsp;Zhao Xu PhD ,&nbsp;Jiong Qin MD, PhD ,&nbsp;Zhixian Yang PhD","doi":"10.1016/j.pediatrneurol.2024.10.018","DOIUrl":"10.1016/j.pediatrneurol.2024.10.018","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (<em>PTEN</em>) 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 <em>PTEN</em> variants.</div></div><div><h3>Methods</h3><div>We collected data from pediatric patients followed in Peking University People’s Hospital from July 2018 to April 2024.</div></div><div><h3>Results</h3><div>Thirteen children harboring <em>PTEN</em> variants were identified (mean age, 4.1 years). All the children (100%) with <em>PTEN</em> 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 <em>PTEN</em> variants and epilepsy. We found seven studies of 665 pediatric patients with <em>PTEN</em> 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.</div></div><div><h3>Conclusions</h3><div>In summary, a high proportion of pediatric patients with <em>PTEN</em> 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 <em>PTEN</em> variants and establish standard treatments.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 35-44"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","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}
引用次数: 0
Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion in a Child With Severe COVID-19 2019年严重冠状病毒病儿童急性脑病伴双相发作和晚期弥散减少
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.12.004
J. Bradley Segal MD, MBe , Hisham Dahmoush MBChB
{"title":"Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion in a Child With Severe COVID-19","authors":"J. Bradley Segal MD, MBe ,&nbsp;Hisham Dahmoush MBChB","doi":"10.1016/j.pediatrneurol.2024.12.004","DOIUrl":"10.1016/j.pediatrneurol.2024.12.004","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 93-95"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915353","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}
引用次数: 0
Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit 霍普金斯综合征:重症监护病房虚弱的罕见原因。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2025-02-01 DOI: 10.1016/j.pediatrneurol.2024.11.006
Trajano Aguiar Pires Gonçalves MD , Maria Clara Zanon Zotin MD, PhD , Carolina Lavigne Moreira MD , Rodrigo Siqueira Soares Frezatti MD , Antonio Carlos Santos MD, PhD , Wilson Marques Junior MD, PhD , Pedro José Tomaselli MD, PhD
{"title":"Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit","authors":"Trajano Aguiar Pires Gonçalves MD ,&nbsp;Maria Clara Zanon Zotin MD, PhD ,&nbsp;Carolina Lavigne Moreira MD ,&nbsp;Rodrigo Siqueira Soares Frezatti MD ,&nbsp;Antonio Carlos Santos MD, PhD ,&nbsp;Wilson Marques Junior MD, PhD ,&nbsp;Pedro José Tomaselli MD, PhD","doi":"10.1016/j.pediatrneurol.2024.11.006","DOIUrl":"10.1016/j.pediatrneurol.2024.11.006","url":null,"abstract":"<div><h3>Background</h3><div>Hopkins syndrome is a rare polio-like syndrome, with an incompletely understood pathophysiology, that affects children after asthma crisis.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>Hopkins syndrome is a rare polio-like syndrome that is probably underdiagnosed and has a poor motor prognosis.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"163 ","pages":"Pages 4-6"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","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}
引用次数: 0
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