Pediatric neurology最新文献

{"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":"https://doi.org/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":"Pediatric Suprasellar Tumors: Unveiling the Mysteries of Craniopharyngioma and Germ Cell Tumors-Insights From Diagnosis to Advanced Therapeutics.","authors":"Margaret Shatara, Mohamed S Abdelbaki","doi":"10.1016/j.pediatrneurol.2024.10.016","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.10.016","url":null,"abstract":"<p><strong>Background: </strong>Pediatric suprasellar tumors represent a unique and intricate challenge in the landscape of pediatric neuro-oncology.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","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":"Functional Syncope in Children and Adolescents: A Retrospective Cohort Study","authors":"Imad T. Jarjour MD ,&nbsp;Laila K. Jarjour MB, ChB, MPH ,&nbsp;Katherine Tran MD ,&nbsp;Danita Czyzewski PhD","doi":"10.1016/j.pediatrneurol.2024.10.010","DOIUrl":"10.1016/j.pediatrneurol.2024.10.010","url":null,"abstract":"<div><h3>Background</h3><div>Functional syncope, or psychogenic pseudosyncope, is often under-recognized. We aimed to show that functional syncope may be diagnosed in most pediatric patients by the initial neurological consultation.</div></div><div><h3>Methods</h3><div>We reviewed the medical records of patients who were evaluated from 2006 to 2022 in clinic for apparent transient loss of consciousness (a-TLOC) and probable functional syncope. Inclusion criteria included the following: (1) one or more episodes of a-TLOC; (2) spontaneous recovery; (3) age &lt;19 years; (4) patients collapse or lie immobile andunresponsive to verbal stimulation; (5) normal or mildly increased heart rate and blood pressure, if assessed; (6) no other medical causes; and (7) episodes occurred during tilt, electroencephalography, or electrocardiogram or were seen by the author on a smartphone video or in clinic. Patients meeting criteria 1 to 7 were classified as “definite” functional syncope and those meeting criteria 1 to 6 as “probable” functional syncope.</div></div><div><h3>Results</h3><div>We identified 31 patients with a-TLOC: 26 (23 females) had functional syncope, aged six to 17 years, whereas five were excluded (two functional seizures, one temporal lobe epilepsy, one vasovagal syncope, and one asthma). The clinical features of 13 patients in each group (definite versus probable) were not different statistically. Episodes were prolonged (1 to 270 minutes, mean 58 minutes) and frequent (daily or weekly in 65%), with eyes closed in 71% and eye flutter in 27%. After mean follow-up of 15 months in 14 patients: episodes disappeared in 29%, decreased &gt;50% in 36%, and remained the same in 36%.</div></div><div><h3>Conclusions</h3><div>Functional syncope can be diagnosed at the initial neurological consultation without additional diagnostic testing in most patients.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 21-27"},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624838","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":"Neurocognitive Evaluation of Patients With DiGeorge Syndrome","authors":"Zuhal Karali MD ,&nbsp;Yasin Karali MD ,&nbsp;Sukru Cekic MD ,&nbsp;Berfin Altinok MD ,&nbsp;Muhittin Bodur MD ,&nbsp;Mustafa Bostanci MD ,&nbsp;Sara S. Kilic MD","doi":"10.1016/j.pediatrneurol.2024.10.012","DOIUrl":"10.1016/j.pediatrneurol.2024.10.012","url":null,"abstract":"<div><h3>Background</h3><div>DiGeorge syndrome (DGS), the most common microdeletion syndrome, affects multiple organs, including the heart, the nervous system, and the immune system. In this study, we aimed to evaluate the clinical, laboratory, brain magnetic resonance imaging (MRI), and neurocognitive findings of our patients with DGS.</div></div><div><h3>Methods</h3><div>Clinical and laboratory data of 52 patients with DGS between June 2000 and March 2022 were evaluated retrospectively. Brain MRI and neuropsychologic tests were performed to assess the neurocognitive status of the patients.</div></div><div><h3>Results</h3><div>Fifty-two patients (28 males and 24 females) were included in our study. Fifteen of them died during the follow-up. All 37 patients who are alive had partial DGS. The median age of patients was 10 years and 7 months, and the median age at diagnosis was 5 years and 4 months. Bilateral conduction deceleration in the anterior visual pathways in six (20%) of 30 patients was determined by the visual evoked potentials. The auditory brainstem evoked potential test showed sensorineural hearing loss in 11 of 30 (36.6%) patients. Brain MRI disclosed brain parenchymal abnormalities in 18 of 25 (72%) patients. Impairments in executive functions, expressive language, and verbal memory were noted in 18 patients who were neuropsychologically assessed.</div></div><div><h3>Conclusions</h3><div>It is important to keep in mind that patients with DGS may be accompanied by neurocognitive findings. Awareness of the potential for underlying psychiatric and neurodevelopment disorders is key to anticipatory guidance, optimization of therapies, and maximizing life quality.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 40-46"},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624839","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":"New-Onset Refractory Status Epilepticus With Diffuse Cerebral Restricted Diffusion in Young Children: A Novel Clinical-Radiologic Presentation","authors":"Hope M. Reecher BS ,&nbsp;Niyati P. Mehta MD ,&nbsp;Namrata D. Patel MD, MS ,&nbsp;Rachel A. Sawdy DNP ,&nbsp;Raquel Farias-Moeller MD","doi":"10.1016/j.pediatrneurol.2024.10.009","DOIUrl":"10.1016/j.pediatrneurol.2024.10.009","url":null,"abstract":"<div><h3>Background</h3><div>New-onset refractory status epilepticus (NORSE) is a clinical presentation characterized by explosive-onset refractory status epilepticus (RSE) without evident etiology or active epilepsy, often leading to devastating epilepsy. There is heterogeneity in neuroradiographic findings for NORSE. We encountered a series of young patients with NORSE who had diffuse cerebral restriction in diffusion (DCRD) with similar radiographic appearances as acute encephalopathy with biphasic seizures and late restricted diffusion/acute leukoencephalopathy with restricted diffusion (AESD/ALERD). We explore clinical similarities and proposed pathophysiologic overlaps to highlight a novel clinical-radiologic presentation.</div></div><div><h3>Methods</h3><div>Retrospective review was completed for patients younger than five years meeting NORSE criteria and then screened for radiographic evidence of DCRD. Demographic, clinical, and outcome data were collected.</div></div><div><h3>Results</h3><div>Eleven patients met NORSE criteria, of whom seven displayed DCRD. Immunosuppressant management varied. All patients required multiple antiseizure medications and continuous infusions for RSE. Only one had an etiology identified (genetic). All but one patient developed diffuse, global, and progressive cerebral atrophy. Two patients died: one after prolonged seizure three years post-NORSE and another of unknown causes two months post-NORSE. Of five survivors, three have medically refractory epilepsy. Most survivors have severe disability.</div></div><div><h3>Conclusions</h3><div>We present a single-center case series of seven patients with NORSE and DCRD, akin to AESD/ALERD. Our patients differed clinically to AESD/ALERD in terms of seizure severity and poorer outcome. There is a need to develop biomarkers for specific NORSE phenotypes. The young child with NORSE and DCRD may represent a novel phenotype with a specific neuroradiographic signature that deserves further attention.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 47-54"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625004","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":"Diagnostic and Therapeutic Insights Into Pediatric Neurosarcoidosis: Observations From French Pediatric Rheumatology Centers","authors":"Racha Tohme MD ,&nbsp;Anca Tanase MD ,&nbsp;Cécile Dumaine MD ,&nbsp;Perrine Dusser MD ,&nbsp;Homa Adle-Biassette MD, PhD ,&nbsp;Veronique Despert MD ,&nbsp;Albert Faye MD, PhD ,&nbsp;Inès Mannes MD ,&nbsp;Isabelle Melki MD, PhD ,&nbsp;Isabelle Kone-Paut MD, PhD ,&nbsp;Ulrich Meinzer MD, PhD ,&nbsp;SOFREMIP, French Society for Rheumatology and Pediatric Inflammatory Diseases","doi":"10.1016/j.pediatrneurol.2024.10.007","DOIUrl":"10.1016/j.pediatrneurol.2024.10.007","url":null,"abstract":"<div><h3>Background</h3><div>The diagnosis and management of neurosarcoidosis (NS) in pediatric patients remain challenging, with limited case documentation to guide clinicians. Most existing reports focus on initial presentations. This study aimed to outline the clinical features, management, and medium-term outcomes of pediatric NS</div></div><div><h3>Methods</h3><div>In this retrospective, multicentric, observational study, we collected data from pediatric patients followed in French pediatric rheumatology centers with a diagnosis of NS between January 2001 and June 2023.</div></div><div><h3>Results</h3><div>We identified 11 patients diagnosed with NS, comprising eight girls and three boys. The mean age at diagnosis of sarcoidosis was 10 (5 to 15) years, and the mean age of diagnosis of NS was 11.5 (5 to 17) years. Predominant neurological symptoms included headache (nine of 11 patients), papilledema (6 of 11 patients), facial palsy (two patients), seizures (one patient), and motor deficit (two patients). Nine of 11 patients had eye involvement, which consisted of granulomatous and bilateral uveitis. All patients exhibited meningitis, with cerebrospinal fluid white blood cell counts ranging from 6 to 70 cells/mm³. Six individuals presented neurological abnormalities on imaging, detailed in this study. Treatment primarily involved corticosteroids, methotrexate, and tumor necrosis factor alpha (TNF-alpha) inhibitors. Biologics targeting TNF-alpha were necessary to achieve remission in eight of 11 patients. In two patients who did not receive this treatment initially, it was required later in the course of evolution.</div></div><div><h3>Conclusions</h3><div>This study enhances understanding of the clinical course of pediatric NS and supports the early use of TNF-alpha biologics for improved management in affected children.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 12-20"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605756","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":"Alice in Wonderland Syndrome in Children With Severe Acute Respiratory Syndrome SARS-CoV-2 Infection: A Case Series of Two Patients in an Italian Hospital","authors":"Susanna Staccioli MD, PhD ,&nbsp;Rosanna Mariani MD, PhD ,&nbsp;Sarah Bompard MD ,&nbsp;Nicole Olivini MD ,&nbsp;Claudia Fanfoni MD ,&nbsp;Gianluca Mirra MD ,&nbsp;Eleonora Bisozzi TNFP ,&nbsp;Andrea Campana MD ,&nbsp;Donatella Lettori MD, PhD","doi":"10.1016/j.pediatrneurol.2024.10.008","DOIUrl":"10.1016/j.pediatrneurol.2024.10.008","url":null,"abstract":"<div><h3>Background</h3><div>Alice in Wonderland syndrome (AIWS) is a disorienting neurological condition that affects human perception to the senses of vision, hearing, touch, and sensation and the phenomenon of time. Herein we report two pediatric cases of AIWS temporally related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.</div></div><div><h3>Case presentation</h3><div>An eight-year-old-girl without history of migraine or epilepsy experienced some episodes of visual distortions (micropsia, macropsia, and teleopsia) and misperception of sound, sometimes associated with headache. The onset of symptoms began at the occurrence of fever (38°C), during SARS-CoV-2 infection. Another six-year-old girl, with no history of migraine or epilepsy, experienced short-term episodes of visual (metamorphopsia) and color disturbance (chromatopsia), during an otherwise asymptomatic SARS-CoV-2 infection. In both cases, clinical examination was unremarkable; surface electroencephalography showed normal findings, without any correlation between visual phenomena and cortical activity; and brain magnetic resonance was normal. The patients were given symptomatic treatment, consisting of anti-inflammatory drugs on demand. The frequency of episodes decreased progressively following a negative SARS-CoV-2 test, with full remission in a few weeks. At the moment of hospital admission, none of the patients had completed the two-dose vaccination schedule for SARS-CoV-2.</div></div><div><h3>Conclusion</h3><div>Based on our clinical experience, we believe SARS-CoV-2 may be responsible for AIWS, in addition to other neurological symptoms more frequently documented in the literature. Pathogenesis is multifactorial and arises from the activation of inflammatory pathways. We therefore suggest also searching for SARS-CoV-2, among other viruses linked with AIWS, in children presenting with visual and/or auditory hallucinations, even as isolated symptoms.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 28-31"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142624815","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":"Effect of Piracetam and Iron Supplementation on Heart Rate Variability in Children With Breath-Holding Spells: Effective Treatment or Placebo?","authors":"Prateek Kumar Panda DM,&nbsp;Indar Kumar Sharawat DM","doi":"10.1016/j.pediatrneurol.2024.10.005","DOIUrl":"10.1016/j.pediatrneurol.2024.10.005","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Page 262"},"PeriodicalIF":3.2,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142538017","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":"Horner Syndrome Secondary to Rapid Enlargement of a Mediastinal Lymphatic Malformation","authors":"Elizabeth Pickup MD ,&nbsp;Kyle Spagnolo DO ,&nbsp;Alexandra B. Kornbluh MD","doi":"10.1016/j.pediatrneurol.2024.10.006","DOIUrl":"10.1016/j.pediatrneurol.2024.10.006","url":null,"abstract":"<div><div>Horner syndrome is a clinical triad of ptosis, miosis, and anhidrosis, which commonly prompts urgent neuroimaging. The differential diagnosis of new-onset Horner syndrome in children includes neurological emergencies. We report here a case of a 13-month-old male infant with acute-onset Horner syndrome, subsequently found to have a large mediastinal lymphatic malformation compressing the trachea and neck vasculature.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"162 ","pages":"Pages 9-11"},"PeriodicalIF":3.2,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605759","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":"Racial, Ethnic, and Socioeconomic Disparities in Pediatric Aquaporin-4-Positive Neuromyelitis Optica Spectrum Disorder","authors":"Kelsey E. Poisson MD ,&nbsp;Linda Nguyen MD, PhD ,&nbsp;Paul S. Horn PhD ,&nbsp;Andrew F. Beck MD, MPH ,&nbsp;Helen Wu MD, PhD ,&nbsp;Kris Wesselkamper MD ,&nbsp;Jayne M. Ness MD, PhD ,&nbsp;Yolanda S. Wheeler PhD, CRNP, CPNP-AC, MSCN","doi":"10.1016/j.pediatrneurol.2024.09.028","DOIUrl":"10.1016/j.pediatrneurol.2024.09.028","url":null,"abstract":"<div><h3>Background</h3><div>Only 5% of aquaporin-4-positive neuromyelitis optica spectrum disorder (AQP4+ NMOSD) cases emerge during childhood. Poorer outcomes have been suggested in black/African American (AA) adults with NMOSD; however, conflicting and limited data exist for pediatric-onset NMOSD. This study evaluates racial, ethnic, and socioeconomic disparities in pediatric AQP4+ NMOSD outcomes.</div></div><div><h3>Methods</h3><div>Thirty-eight pediatric patients with AQP4+ NMOSD cared for at three pediatric tertiary care centers between 2009 and 2021 were identified. Patient addresses connected to socioeconomic measures available from the US Census. Demographic characteristics, pertinent clinical outcomes, and health care utilization in the two years following diagnosis were captured.</div></div><div><h3>Results</h3><div>Compared with non-Hispanic White children, Black/AA children had a significantly higher Expanded Disability Status Scale (EDSS) (2.46 vs 0.33, <em>P</em> = 0.003), 2.37 more hospital admissions (<em>P</em> = 0.002), and 28.40 additional inpatient days (<em>P</em> = 0.002) in the two years following their NMOSD diagnosis. Additionally, children with public insurance had higher relapse rates than those with private insurance (<em>P</em> = 0.046). At two years and at the most recent follow-up, a significantly higher EDSS was correlated with children living in census tracts with a lower median income, higher deprivation index, and higher proportion of population on assisted income, in poverty, and with vacant housing (all <em>P</em> &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>We identified racial, ethnic, and socioeconomic disparities in clinical outcomes and health care utilization in pediatric AQP4+ NMOSD. Further prospective and household-level data are needed to dissect the interplay of genetics, structural racism, and social determinants of health so that interventions to optimize care and outcomes for this population may be developed.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 194-200"},"PeriodicalIF":3.2,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142472239","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}