Pediatric neurology最新文献

{"title":"Thick and Short Fetal Corpus Callosum on Ultrasound: Added Value of Fetal Magnetic Resonance Diffusion Tensor Imaging With Tractography","authors":"Shetal Desai MD ,&nbsp;Tushar Desai MD","doi":"10.1016/j.pediatrneurol.2024.12.007","DOIUrl":"10.1016/j.pediatrneurol.2024.12.007","url":null,"abstract":"<div><h3>Background</h3><div>Thick fetal corpus callosum (CC) is a rare finding and its significance in isolation is not clear. In this retrospective study, we aim to gain insight into the microarchitecture of CC in a cohort of fetuses with thick and short CC (isolated or associated with mild extra-/intracranial abnormalities) as seen on ultrasound (US), by using prenatal magnetic resonance (MR) diffusion tensor imaging (DTI) with fiber tractography, thereby allowing better characterization for postnatal prognosis.</div></div><div><h3>Methods</h3><div>Twelve fetuses met the inclusion criteria on US. The fetuses were further divided into group 1 (eight of twelve) with mild intra-/extracranial abnormalities or apparently isolated and group 2 (four of 12) with callosal lipoma (CL) on US. In all fetuses, both conventional MR imaging and DTI with tractography were done on 3T MRI.</div></div><div><h3>Results</h3><div>DTI fiber tractography showed an aberrant midline longitudinal supracallosal bundle (ASB) in all eight fetuses in group 1. Three of four fetuses in group 2 showed normal callosal architecture, and one showed an abnormal sigmoid bundle suggestive of partial agenesis of CC.</div></div><div><h3>Conclusions</h3><div>We have for the first time demonstrated an ASB on MR DTI with tractography in eight of 12 fetuses with thick and short CC (isolated or mild associated intra-/extracranial abnormalities). Postnatally, ASB is reported to be associated with abnormal neurodevelopmental outcomes even in isolation and hence is important in counseling and prognosis. In fetuses with CLs, DTI would demonstrate normal or abnormal callosal architecture which is obscured by echogenicity and help in counseling.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 10-16"},"PeriodicalIF":3.2,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143009887","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":"Wernicke Encephalopathy Presenting With Syndrome of Inappropriate Antidiuretic Hormone","authors":"Chloe Braun MD,&nbsp;Charli Cohen MD,&nbsp;Lece Webb MD","doi":"10.1016/j.pediatrneurol.2024.12.008","DOIUrl":"10.1016/j.pediatrneurol.2024.12.008","url":null,"abstract":"<div><div>Wernicke encephalopathy is a well-described neurological complication of thiamine deficiency that is classically characterized by a triad of mental confusion, ophthalmoplegia, and gait ataxia. Although most commonly linked to alcoholism and thiamine deficiency in adults, it can present in pediatric patients. Wernicke encephalopathy presenting as dysnatremias is not well described. This report describes a developmentally delayed 21-month-old male with restrictive dietary habits who eventually developed focal neurological deficits. He was found to be hyponatremic consistent with syndrome of inappropriate antidiuretic hormone (SIADH). Additionally, he had brain magnetic resonance imaging findings consistent with Wernicke encephalopathy. He improved with thiamine administration and correction of his hyponatremia. His case highlights the importance of broadening the differential for altered mental status in the setting of SIADH. Similarly, his case provides an example for why primary care pediatricians should remain vigilant in caring for patients with developmental delay and restricted diets, as even rare complications are possible.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 4-6"},"PeriodicalIF":3.2,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142966166","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":"The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome","authors":"Kristen Barbour MD ,&nbsp;Jennifer Friedman MD ,&nbsp;Lynne M. Bird MD ,&nbsp;Miguel Del Campo MD ,&nbsp;Kristen Wigby MD ,&nbsp;Marilyn Jones MD ,&nbsp;Amy Chong MD ,&nbsp;Zachary M. Grinspan MD, MS","doi":"10.1016/j.pediatrneurol.2024.12.005","DOIUrl":"10.1016/j.pediatrneurol.2024.12.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"164 ","pages":"Pages 1-3"},"PeriodicalIF":3.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932586","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}

{"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":"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":"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":"Patient-Reported Outcomes in Childhood Moyamoya Arteriopathy","authors":"Syed Ameen Ahmad BS ,&nbsp;John R. Gatti MD ,&nbsp;Rachel K. Peterson PhD, NCSP ,&nbsp;Noah Burton MHS ,&nbsp;Laura A. Malone MD, PhD ,&nbsp;Lisa R. Sun MD","doi":"10.1016/j.pediatrneurol.2024.10.017","DOIUrl":"10.1016/j.pediatrneurol.2024.10.017","url":null,"abstract":"<div><h3>Background</h3><div>Little is known about quality of life, sleep, and mental health in children with moyamoya arteriopathy (MMA). A better understanding of patient-reported outcomes may lead to improved treatment.</div></div><div><h3>Methods</h3><div>Patients with MMA &lt;26 years old and their caretakers completed validated, age-appropriate questionnaires including the Pediatric Quality of Life (PedsQL) Inventory and Patient-Reported Outcomes Measurement Information System (PROMIS) measuring health-related quality of life, sleep, anxiety, depression, and overall health.</div></div><div><h3>Results</h3><div>All 21 caretaker-proxies and eight of 21 patients with MMA completed questionnaires. Median age of participants with MMA was 7.8 years. The MMA cohort included 10 children with moyamoya disease and 11 with moyamoya syndrome, and 11 participants (52.4%) had a prior clinical stroke. Nine siblings unaffected by moyamoya and 20 participants with perinatal stroke were enrolled as comparator groups. Participants with MMA had greater impairment in school/work quality of life compared with normative values on caretaker and child-reported PedsQL surveys (85.5 vs 62.3 [<em>P</em> &lt; 0.001] and 78.6 vs 51.2 [<em>P</em> = 0.017], respectively). Participants with MMA did not have significantly different physical impairment compared with normative values and siblings on caretaker and child-reported surveys. Caretaker-proxy PROMIS scores revealed high rates of moderate-severe anxiety (57.1% vs 25%, <em>P</em> &lt; 0.001), sleep impairment (47.6% vs 25%, <em>P</em> = 0.017), and fair-poor global health (76.2% vs 25%, <em>P</em> &lt; 0.001) in participants with MMA compared with the general population.</div></div><div><h3>Conclusions</h3><div>Patients with MMA have high rates of school/work impairment, anxiety, sleep impairment, and fair-poor global health. Screening for patient-reported outcomes, even in the absence of stroke or physical impairment, may improve treatment.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 69-75"},"PeriodicalIF":3.2,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682414","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":"Pediatric Suprasellar Tumors: Unveiling the Mysteries of Craniopharyngioma and Germ Cell Tumors—Insights From Diagnosis to Advanced Therapeutics","authors":"Margaret Shatara MD ,&nbsp;Mohamed S. Abdelbaki MD","doi":"10.1016/j.pediatrneurol.2024.10.016","DOIUrl":"10.1016/j.pediatrneurol.2024.10.016","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric suprasellar tumors represent a unique and intricate challenge in the landscape of pediatric neuro-oncology.</div></div><div><h3>Methods</h3><div>We conducted an in-depth literature review, focusing on large clinical trials and major publications in pediatric suprasellar tumors, particularly craniopharyngiomas and germ cell tumors, to provide a comprehensive perspective on the challenges in the diagnosis, treatment, and molecular aspects of these tumors.</div></div><div><h3>Results</h3><div>Nestled within the critical confines of the suprasellar region, these tumors manifest against the backdrop of crucial growth and developmental processes. The suprasellar region, housing the pituitary gland and surrounding structures, plays a pivotal role in orchestrating hormonal regulation and growth. The emergence of tumors within this delicate terrain introduces a complex array of challenges, encompassing neurological, endocrinological, and developmental dimensions from damage to the hypothalamic-pituitary axis.</div></div><div><h3>Conclusions</h3><div>This article provides a thorough exploration of pediatric craniopharyngiomas and germ cell tumors, elucidating their clinical presentations, treatment modalities, and outcomes. The focused analysis aims to deepen our understanding of these tumors by offering insights for refined clinical management and improved patient outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 55-68"},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676669","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":"Prenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists","authors":"Barbara Scelsa MD ,&nbsp;Dawn Gano MD, MAS ,&nbsp;Anthony R. Hart MBChB, PhD ,&nbsp;Brigitte Vollmer MD, PhD ,&nbsp;Monica E. Lemmon MD ,&nbsp;Tomo Tarui MD ,&nbsp;Sarah B. Mulkey MD, PhD ,&nbsp;Mark Scher MD ,&nbsp;Andrea C. Pardo MD ,&nbsp;Sonika Agarwal MBBS, MD ,&nbsp;Charu Venkatesan MD, PhD","doi":"10.1016/j.pediatrneurol.2024.10.014","DOIUrl":"10.1016/j.pediatrneurol.2024.10.014","url":null,"abstract":"<div><div>Holoprosencephaly (HPE) is one of the most common malformations in embryonic development. HPE represents a continuum spectrum that involves the midline cleavage of forebrain structures. Facial malformations of varying degrees of severity are also observed. It is probable that HPE results from a combination of genetic mutations and environmental influences during the initial weeks of pregnancy. Some patients with HPE experience early death, whereas others go on to experience neurodevelopmental impairment. Accurate fetal imaging can facilitate diagnosis and prenatal counseling, although more subtle brain abnormalities can be difficult to diagnose prenatally. Fetal counseling can be complex, given that the etiopathogenesis remains unclear and variable penetrance is prevalent in inherited genetic mutations. The aim of this narrative review is to examine the literature on HPE and to offer recommendations for pediatric neurologists for fetal counseling and postnatal care.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 87-96"},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693111","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":"Use of Stiripentol in Dravet Syndrome: A Guide for Clinicians","authors":"James Wheless MD,&nbsp;Sarah Weatherspoon MD","doi":"10.1016/j.pediatrneurol.2024.10.015","DOIUrl":"10.1016/j.pediatrneurol.2024.10.015","url":null,"abstract":"<div><div>Dravet syndrome is a developmental and epileptic encephalopathy characterized by frequent, prolonged convulsive seizures and status epilepticus. Symptoms usually appear in the first year of life, and in addition to ongoing severe and intractable epilepsy, children with Dravet syndrome experience neurodevelopmental, behavioral, and motor impairments, along with high rates of mortality, especially in the first 12 years of life. Prompt diagnosis and initiation of treatment with broad-spectrum antiseizure medications are recommended to reduce seizure frequency and status epilepticus, and to potentially minimize the comorbidities associated with the epileptic encephalopathy. Stiripentol is an antiseizure medication approved for adjunctive use in Dravet syndrome in patients aged as young as six months. Data from randomized clinical trials and real-world studies demonstrate that stiripentol added to first-line therapy with clobazam and/or valproate is associated with high rates of seizure control, including freedom from status epilepticus, for extended periods of time including into adulthood. Stiripentol has multiple mechanisms of action and also inhibits several metabolic drug-metabolizing enzymes that can enhance the efficacy of coadministered antiseizure medications. Stiripentol is well tolerated, and treatment-emergent adverse events can often be managed by dose adjustments of comedications. This review updates the use of stiripentol in the modern era.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 76-86"},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688047","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}