Annals of the Child Neurology Society最新文献

{"title":"Mesenchymal Chondrosarcoma Presenting as Atypical Brown–Sequard Syndrome","authors":"Naman D. Shah, Adam Z. Kalawi, Rachel Pearson, Ali Nael, John R. Crawford","doi":"10.1002/cns3.70079","DOIUrl":"https://doi.org/10.1002/cns3.70079","url":null,"abstract":"<p>Brown–Sequard syndrome results from hemisection of the spinal cord, producing ipsilateral motor weakness and loss of proprioception with contralateral loss of pain and temperature sensation. It is commonly associated with penetrating spinal trauma. Nontraumatic etiologies, particularly tumors at the craniocervical junction, are rare and may have atypical presentations leading to delayed diagnosis. We report an unusual case of atypical Brown–Sequard syndrome in an adolescent caused by a rare mesenchymal tumor at the foramen magnum.</p><p>This 14-year-old previously healthy boy presented with a 1-week history of cold sensation loss in the right hand and progressive weakness in the left hand. His neurological examination revealed left hemiparesis, hyperreflexia with Babinski sign, and diminished pain and temperature sensation on the right. His cranial nerve examination was normal without evidence of Horner syndrome. Vibration sensation was mildly reduced bilaterally, suggesting partial involvement of the dorsal column–medial lemniscus pathway. Overall, the neurological examination was consistent with a hemicord syndrome localizing to the upper cervical cord. Contrast-enhanced computed tomography of the head and cervical spine demonstrated a calcified, heterogeneously enhancing craniocervical junction mass with cord compression (Figure 1A–C). Magnetic resonance imaging revealed a lobulated, homogeneously enhancing tumor centered at the anterior foramen magnum with mass effect on the medulla, craniocervical junction, and proximal cervical cord (Figure 1D–H). Neuroimaging features were most consistent with chordoma, meningioma, or sarcoma.</p><p>The patient underwent gross total resection without complications. Three days postoperatively, he showed significant improvement in strength and temperature sensation. Histopathology demonstrated a biphasic tumor composed of sheets of malignant small round blue cells intermixed with nodules of hyaline cartilage (Figure 2). RNA sequencing identified a HEY1::NCOA2 fusion, confirming a diagnosis of mesenchymal chondrosarcoma (MCS). Postoperative treatment with chemotherapy (vincristine, doxorubicin, cyclophosphamide, ifosfamide, etoposide) and focal proton radiation resulted in complete response without evidence of tumor recurrence more than 1 year post diagnosis.</p><p>Primary spinal cord tumors are uncommon in children and typically present with a slow, indolent course. Reported median time to diagnosis is up to 7.8 months, with over one-third of patients experiencing symptoms for more than 6 months before diagnosis [<span>1</span>]. Prolonged symptom duration strongly predicts neurological sequelae, with delayed presentation increasing the risk of permanent deficits by approximately 16-fold [<span>2</span>]. MCS is a rare and aggressive subtype of chondrosarcoma, accounting for approximately 1% of all cases, predominantly affecting adolescents and young adults [<span>3</span>]. These tumors may arise from bo","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"239-241"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70079","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Induced Stretch Syncope: An Underrecognized Condition","authors":"Samia M. Khan, Vandana J. Vedanarayanan","doi":"10.1002/cns3.70085","DOIUrl":"https://doi.org/10.1002/cns3.70085","url":null,"abstract":"<p>We describe a child with position-independent self-induced stretch syncope preceded by an atypical prodrome of diminished hearing and a sense of heaviness of the head. A sibling has postural orthostatic tachycardia syndrome (POTS). This condition is rarely reported and likely underrecognized.</p><p>This previously healthy 12-year-old boy presented to the dysautonomia clinic for evaluation of a 4-month history of syncope precipitated by stretching. These events consisted of an initial sensation of his back “feeling funny” that induced stretching. When performed in any position, this resulted in what he described as “tunnel vision” and syncope lasting up to 30 s, with occasional brief, subtle jerking of his extremities. He described a brief prodrome of diminished hearing and a \"heavy\" feeling in his head. Following the episode, he experienced confusion but quickly returned to baseline. Temperature, large meals, and poor hydration did not affect frequency, and there were no other associated symptoms. His past history includes anxiety and attention-deficit/hyperactivity disorder, treated with sertraline and dexmethylphenidate. His family history was contributory only for a sister with POTS.</p><p>His neurological examination was normal. When transitioning from lying to sitting to standing, his heart rate increased by 25 beats per minute, below the criteria for a POTS diagnosis.</p><p>An earlier inpatient electroencephalogram had a normal background rhythm without epileptiform activity, including during an episode of dizziness and left arm shaking. Other normal diagnostic studies included a comprehensive metabolic panel, an electrocardiogram, magnetic resonance imaging of the brain without contrast, and magnetic resonance angiography (MRA) of the head and neck.</p><p>Self-induced stretch syncope is a rare but benign disorder characterized by stereotypic stretching of the upper back, neck, and shoulder muscles, typically with neck hyperextension, leading to a brief loss of consciousness [<span>1</span>]. This patient described daily symptomatic episodes after stretching, prompted by a “funny feeling” in his back. In addition to neck hyperextension and arching of the back, he experienced symptoms while straightening his arms, pushing against an object, or lowering his head below his arms in a standing position. This disorder has been described in individuals who have a compulsion to stretch and induce syncope, while other reports do not describe a specific urge to stretch [<span>2</span>]. This may reflect a sensory tic with compulsive behavioral response that leads to the episode of stretch syncope. Stretch syncope has been described in fewer than 30 patients in the literature [<span>3</span>]. However, it is probably encountered more frequently in practice than these few reports would suggest. This disorder was originally thought to occur based on anatomic disruption of blood flow within vertebral arteries but is now considered a multifactorial neu","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"242-243"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Clinical Progression in X-Linked Adrenoleukodystrophy: The AMNL Scoring System","authors":"Eda G. Kabak,&nbsp;Cecilie Videbaek,&nbsp;Marije M. C. Voermans,&nbsp;Björn M. van Geel,&nbsp;Keith van Haren,&nbsp;Stephan Kemp,&nbsp;Diederik van de Beek,&nbsp;Marc Engelen","doi":"10.1002/cns3.70084","DOIUrl":"https://doi.org/10.1002/cns3.70084","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The current clinical nomenclature for individuals with <i>ABCD1</i> gene dysfunction is often uninformative. The disorder was initially described as a combination of adrenal insufficiency and leukodystrophy, leading to the widespread use of “X-linked adrenoleukodystrophy” (ALD). However, this term is inaccurate for individuals who never develop these features. <i>ABCD1</i> dysfunction can cause various symptom complexes: adrenal insufficiency, myelopathy, neuropathy, and leukodystrophy, which may occur consecutively, simultaneously, or not at all.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We developed an intuitive annotation system to precisely convey phenotype status for individuals with <i>ABCD1</i> dysfunction. The “AMNL score” assesses the presence and severity of [A]drenal insufficiency, [M]yelopathy, [N]europathy, and [L]eukodystrophy, with scores ranging from 0 (no symptoms) to 3 (severe) per domain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Applied to initial clinical encounters with 101 Dutch patients and 30 patients from the California newborn screening (NBS) program, the system identified 33 unique presentations. The most common was isolated mild myelopathy (A0M1N0L0). Including predominantly asymptomatic NBS newborns (mostly A0M0NUL0) broadened the spectrum and highlighted the need for precise classification across ages. Longitudinal use over 2 years in 99 Dutch patients showed progression in one or more domains in 41.4%, most often worsening myelopathy. In the NBS cohort (median follow-up: 3.5 years; range: 0.3–12.2), most patients showed no myelopathy or leukodystrophy, though adrenal involvement was detected in half. Initial inter-rater reliability was high (<i>α</i> = 0.996).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The AMNL score's ability to quantify domain-specific changes over time makes it valuable for monitoring disease evolution in clinical practice and research.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"219-226"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70084","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"“The Most Difficult Conversations We Have”: Resident Experiences With Pediatric Neuroprognostication","authors":"Grant L. Lin,&nbsp;Beatrice D. White,&nbsp;Shelby D. Burk,&nbsp;Jessica A. Moriarty,&nbsp;David B. Mauser,&nbsp;Claire E. Wakefield,&nbsp;Courtney J. Wusthoff,&nbsp;Justin N. Baker","doi":"10.1002/cns3.70080","DOIUrl":"https://doi.org/10.1002/cns3.70080","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Pediatric neuroprognostication is often complicated by uncertainty and embedded in high-stakes medical decisions. For child neurology residents, participation in neuroprognostication can represent key learning experiences but also comes with emotional and ethical challenges, which poses a risk of moral distress. This study sought to describe contextual influences and impacts on residents participating in neuroprognostication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>One-on-one, semi-structured virtual interviews were conducted with senior (postgraduate year 5–6) child neurology residents. Deidentified transcripts were iteratively analyzed to develop themes and generate a narrative of resident experiences. Initial themes were shared with participants for additional feedback. Final themes were synthesized to characterize contextual influences and the emotional and professional impacts of participating in neuroprognostication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifteen residents from 12 institutions across 10 states participated, representing a range of program sizes and geographic locations across the United States. Qualitative analysis identified five themes: (1) <i>Serious neurologic pathology and decisions with high stakes</i>, highlighting neurology teams' roles in major medical decisions; (2) <i>Navigating uncertainty and hope</i>, describing the difficulty of limited data; (3) <i>Systemic barriers and challenges to prognostic communication</i>, underscoring team- and institution-level factors; (4) <i>Negative emotional impacts</i>, with concerns of developing emotional exhaustion; and (5) <i>The importance of neuroprognostication</i>, emphasizing the gravity of this responsibility and distress when residents felt ineffective in this role.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Residents describe neuroprognostication as an emotionally salient experience carrying a strong sense of responsibility. This narrative highlights opportunities to support residents in training, improve prognostic communication, and address potential threats to resident well-being.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"227-238"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70080","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring Healthcare Continuity in Pediatric-Onset Multiple Sclerosis in the United States","authors":"Aaron W. Abrams,&nbsp;Michael Waltz,&nbsp;Jonathan Race,&nbsp;T. Charles Casper,&nbsp;Claudia Gambrah-Lyles,&nbsp;Kimberly O'Neill,&nbsp;Akash Virupakshaiah,&nbsp;Kristen S. Fisher,&nbsp;Melissa A. Wright,&nbsp;Kelsey E. Poisson,&nbsp;Eva-Chava M. Bernfeld,&nbsp;Gregory Aaen,&nbsp;Leslie A. Benson,&nbsp;Tanuja Chitnis,&nbsp;Carla Francisco,&nbsp;Grace Y. Gombolay,&nbsp;Mark P. Gorman,&nbsp;Jennifer S. Graves,&nbsp;Lauren Krupp,&nbsp;Timothy E. Lotze,&nbsp;Soe Mar,&nbsp;Jayne Ness,&nbsp;Mary Rensel,&nbsp;Moses Rodriguez,&nbsp;Teri Schreiner,&nbsp;Nikita Shukla,&nbsp;Jan-Mendelt Tillema,&nbsp;Bianca Weinstock-Guttman,&nbsp;Yolanda Wheeler,&nbsp;Emmanuelle Waubant,&nbsp;John Rose,&nbsp;US Network of Pediatric MS Centers","doi":"10.1002/cns3.70070","DOIUrl":"https://doi.org/10.1002/cns3.70070","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Little is known about shifting from pediatric to adult-focused multiple sclerosis (MS) care. This study aims to explore transition of care and follow-up in the US pediatric-onset MS (POMS) population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Surveys were distributed to 10 sites in the US Network of Pediatric MS Centers (US NPMSC) about transition-of-care practices. A cohort of POMS/clinically isolated syndrome (CIS) at 12 US NPMSC sites was analyzed. The primary comparison was between &lt; 18 and ≥ 18-years of age. The primary outcome was 1- and 2-year lapse in last follow-up visit, measured from last recorded database visit to data lock date or, if ≥ 18 years of age, up to 1 year after a patient reached their site's typical transition age, if earlier. Secondary outcomes were baseline factors associated with follow-up lapse. The model was adjusted for preidentified confounders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared with &lt; 18 years, age ≥ 18 was associated with greater hazard of 1- and 2-year follow-up lapse. In POMS/CIS, the estimated hazard was 1.61 for 1-year lapse (95% confidence interval [CI] 1.32–1.97, <i>p</i> &lt; 0.001) and 1.40 for 2-year lapse (95% CI 1.11–1.76, <i>p</i> = 0.004). In POMS-only, the estimated hazard was 1.70 for 1-year lapse (95% CI 1.33–2.18, <i>p</i> &lt; 0.001) and 1.49 for 2-year lapse (95% CI 1.11–1.99, <i>p</i> = 0.007). Platform injectable disease-modifying therapy was associated with greater and intravenous with lesser hazard of lapse in follow-up, while MS was associated with lower hazard than CIS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Variable transition-of-care practices and barriers were reported by major US POMS centers. Before typical transition age, age ≥ 18 was associated with greater hazard of 1- and 2-year follow-up lapse than &lt; 18. Developing standardized, targeted transition-of-care practices in POMS may be important.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"177-187"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70070","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management Guidelines for the Treatment of Pediatric Brain Tumor–Associated Seizure: A Modified Delphi Consensus Report","authors":"Stephanie N. Brosius,&nbsp;Jacky Ta,&nbsp;Juliane Gust,&nbsp;Fatema Malbari,&nbsp;Mai T. Dang","doi":"10.1002/cns3.70074","DOIUrl":"https://doi.org/10.1002/cns3.70074","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Seizures represent a significant source of morbidity for children with brain tumors. The objective of our study was to establish consensus guidelines for managing children with tumor-related epilepsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study team assembled a panel of 18 child neurologists specializing in neurological complications of brain tumors including neuro-oncologists, general neurologists, and epileptologists. We utilized a modified Delphi consensus–building methodology that started with a systematic review of literature and a closed-ended survey to address the major issues the team felt was essential for the treatment of seizures in pediatric brain tumor patients. Measures of central tendency and percentage of agreement and disagreement were calculated for each question. A second survey was sent with the modal response and one or two additional frequent responses. Modifications were also made to address panelists' suggestions for clarification of the questions. Consensus was defined a priori as &gt; 75% panelist agreement. The majority response was defined as 50%−75% agreement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Respondents universally agreed to start a patient on anti-seizure medication (ASM) only after their first seizure, with levetiracetam as the first-line and lacosamide or oxcarbazepine as the second-line. Consensus was reached for when ASM should be weaned for patients in different scenarios. Electroencephalography (EEG) should be considered prior to weaning medication if the initial EEG was abnormal. Finally, the presence of cortical dysplasia or mesial temporal sclerosis should prompt an upfront epilepsy surgery evaluation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study yielded guidelines for pediatric brain tumor–related epilepsy established from the opinions of child neurologists specializing in the care of these patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"188-196"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70074","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective Analysis of T2-Hyperintense Lesions in Children With Neurofibromatosis Type 1","authors":"Ariel B. Brickler,&nbsp;Manu S. Goyal,&nbsp;Robert C. McKinstry,&nbsp;David H. Gutmann,&nbsp;Jennifer L. Griffith","doi":"10.1002/cns3.70083","DOIUrl":"https://doi.org/10.1002/cns3.70083","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study is to determine whether a previously reported three-tiered classification scheme for T2-hyperintense brain lesions in children with neurofibromatosis type 1 (NF1) was associated with distinct radiographic or clinical characteristics after 10 years of real-world follow-up data were obtained.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this single-center retrospective study, we analyzed T2-hyperintense lesions identified on brain magnetic resonance imaging (MRI) of 58 children with NF1. Lesions were categorized as “Low Likelihood of Tumor,” “Intermediate Likelihood of Tumor,” or “High Likelihood of Tumor” using predefined imaging criteria adopted by our institution. Clinical and radiologic data were evaluated with generalized estimating equations (GEEs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No demographic variables were associated with lesion category, apart from small age differences and a lower proportion of “High Likelihood of Tumor” lesions occurring in males compared with “Low Likelihood of Tumor.” Localization patterns differed modestly, but anatomic site was not associated with radiographic evolution or treatment. Most lesions initially classified as “Low Likelihood of Tumor” or “Intermediate Likelihood of Tumor” remained stable or resolved, and none required therapy. Even among lesions initially classified as “High Likelihood of Tumor,” only a small subset required treatment, most often those demonstrating pronounced T1 hypointensity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>NF1-associated T2-hyperintense lesions demonstrate substantial overlap in clinical and radiographic characteristics, particularly those classified as “Low Likelihood of Tumor” and “Intermediate Likelihood of Tumor,” while generally following a benign course. Features such as lesion location, enhancement, or mass effect are not consistently associated with treatment. These findings support close monitoring of lesions classified as “High Likelihood of Tumor” with pronounced T1 hypointensity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"197-206"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sodium Channel Blocker Tolerance as a Metric for Disease Modification in Dravet Syndrome","authors":"Koichiro Yuji,&nbsp;Wakako Yuji","doi":"10.1002/cns3.70078","DOIUrl":"https://doi.org/10.1002/cns3.70078","url":null,"abstract":"&lt;p&gt;The recent publication by Laux et al. reporting the phase 1-2a trial results of zorevunersen marks a pivotal moment in the management of Dravet syndrome. By utilizing an antisense oligonucleotide to upregulate Nav1.1 expression from the wild-type &lt;i&gt;SCN1A&lt;/i&gt; allele, the therapeutic paradigm is finally shifting from symptomatic seizure suppression toward addressing the root genetic etiology. While the reported reductions in convulsive seizures are highly encouraging, evaluating zorevunersen exclusively as an adjunctive therapy alongside standard, non-sodium-channel-blocking antiseizure medications forecloses the most consequential test of genuine disease modification [&lt;span&gt;1&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Dravet syndrome is fundamentally driven by &lt;i&gt;SCN1A&lt;/i&gt; haploinsufficiency, which selectively impairs Nav1.1 channels in GABAergic inhibitory interneurons. Consequently, sodium channel blockers (SCBs) are strictly contraindicated; they further diminish interneuron excitability, precipitate severe seizure exacerbations, and independently impair cognitive outcomes [&lt;span&gt;2, 3&lt;/span&gt;]. However, if sustained target engagement by zorevunersen genuinely restores Nav1.1 to physiological levels, the specific molecular deficit that renders SCBs harmful should, in principle, be reversed [&lt;span&gt;1&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Demonstrating that a targeted therapy safely restores tolerance to SCBs would represent the ultimate, irrefutable proof of true disease modification. Unfortunately, the clinical development program for zorevunersen—including the forthcoming phase 3 EMPEROR trial (NCT06872125)—perpetuates the strict exclusion of patients receiving maintenance SCBs. By avoiding this specific pharmacological challenge, the field risks embedding a critical knowledge gap permanently into clinical practice, leaving it ambiguous whether the underlying neuropharmacological phenotype has been truly normalized or if seizures are merely being suppressed.&lt;/p&gt;&lt;p&gt;While intentionally administering contraindicated drugs poses obvious ethical challenges in trials, real-world clinical practice offers unique opportunities for insight. For instance, as established by the International Consensus Guidelines [&lt;span&gt;2&lt;/span&gt;], intravenous phenytoin remains an established emergency option for the management of status epilepticus in Dravet syndrome. The extension protocols for zorevunersen appropriately permitted such short-term emergency SCB use. Analyzing these incidental exposures—specifically asking whether paradoxical seizure exacerbation was notably absent in zorevunersen-treated patients who received emergency SCBs—could provide the first clinical evidence of phenotypic reversal.&lt;/p&gt;&lt;p&gt;This distinction extends far beyond academic pathophysiology. In many resource-constrained settings globally, SCBs remain the most consistently accessible and affordable antiseizure medications. Unlocking tolerance to the most widely prescribed antiepileptic drug class would radically alter the global trajectory of","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"175-176"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70078","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"N. Paul Rosman, M.D. (1934–2026)","authors":"Alcy Torres,&nbsp;Laurie Douglass,&nbsp;Phillip L. Pearl,&nbsp;Karl Kuban","doi":"10.1002/cns3.70077","DOIUrl":"https://doi.org/10.1002/cns3.70077","url":null,"abstract":"&lt;p&gt;N. Paul Rosman, MD, CM, legendary child neurologist and consummate leader devoted to the neurological care of children, died in Boston, MA, on March 18, 2026, at age 91. Dr. Rosman founded and led the child neurology division at Boston University's Boston City Hospital and carried the title of Professor Emeritus of Pediatrics and Neurology at the Boston University Chobanian &amp; Avedisian School of Medicine at the time of his death.&lt;/p&gt;&lt;p&gt;Dr. Rosman helped shape the modern field of child neurology and influenced generations of child neurologists worldwide. For more than six decades, he was admired widely for his clinical insight, intellectual rigor, and deep compassion for his patients and their families.&lt;/p&gt;&lt;p&gt;Born in Ottawa, Canada, in 1934, Dr. Rosman graduated &lt;i&gt;magna cum laude&lt;/i&gt; from McGill University, where he earned both a BSc and his medical degree. He then completed training in New York and returned to McGill for further residency. In 1963, he moved to Boston, where he spent the remainder of his career and played a key role in advancing clinical care, education, and research in pediatric neurology. In 1969, he became the first chief of child neurology at Boston City Hospital, where he remained for 17 years [&lt;span&gt;1&lt;/span&gt;]. He then became chief of the division of pediatric neurology at the Floating Hospital for Children at Tufts–New England Medical Center, where he co-founded and directed the Center for Children with Special Needs, advancing multidisciplinary, family-centered care for children with complex neurodevelopmental conditions. Upon his retirement from the Floating, more than 70 of his former trainees, colleagues, and friends from at least 15 states and five foreign countries gathered at a festschrift to celebrate his lifetime of patient care, teaching, mentoring, and research. He remained clinically active at Boston Medical Center for many more years, returning in 2004, when he generously helped his colleague, friend, and newly appointed chief of child neurology, Karl Kuban, rebuild a board-approved child neurology residency program at Boston Medical Center/Boston University.&lt;/p&gt;&lt;p&gt;Internationally recognized for his scholarship and leadership, Dr. Rosman authored more than 200 articles and book chapters, received more than 30 research grants, and made foundational contributions to the understanding of febrile seizures and neurodevelopmental disorders. He co-wrote a classic text, &lt;i&gt;Pediatrics, Neurology, and Psychiatry—Common Ground&lt;/i&gt;, which melded his interest in the overlap between neurology and behavior. He continued to be academically productive to the end of his life; his final paper, “Intubation in Children Presenting with Seizures to a Pediatric Emergency Department in a Safety-Net Hospital,” was published posthumously in &lt;i&gt;Frontiers in Pediatrics [&lt;/i&gt;&lt;span&gt;3&lt;/span&gt;&lt;i&gt;]&lt;/i&gt;.&lt;/p&gt;&lt;p&gt;Dr. Rosman was a diplomate of the American Board of Pediatrics and a diplomate of the American Board of Psychiatry and Neurology (N","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"172-174"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70077","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inpatient Deaths in Pediatric Leukodystrophies","authors":"Hannah S. Hart,&nbsp;Kalista L. Vordos,&nbsp;Caroline T. Flood,&nbsp;Darin J. Isakson,&nbsp;Alfredo Novoa,&nbsp;Joshua L. Bonkowsky","doi":"10.1002/cns3.70086","DOIUrl":"https://doi.org/10.1002/cns3.70086","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objectives</h3>\u0000 \u0000 <p>Leukodystrophies are neurogenetic diseases affecting the white matter of the central nervous system. The contributing factors for leukodystrophy mortality are incompletely understood. Our objectives were to characterize inpatient deaths of pediatric leukodystrophies, including demographics and risk factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort analysis utilized the national Pediatric Health Information System (PHIS) database. Patients under age 19 years with an (ICD-10) diagnosis of leukodystrophy and an inpatient encounter at a PHIS hospital between 2016 and 2024 were included. Analysis included descriptive and multivariate statistics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In all, 613 patients with 15 different leukodystrophies were identified; 32 patients died (5.2%). The most common diagnoses of patients who died were Krabbe disease (KD) (31%), adrenoleukodystrophy (ALD) (28%), metachromatic leukodystrophy (MLD) (28%), and vanishing white matter disease (VWM) (6%). Volume of leukodystrophy admissions at individual hospitals was inversely correlated with mortality. Small numbers limited statistical significance, but mortality rates were higher in females than males (8.3% vs<i>.</i> 3.8%); and Black, Asian, and multiracial patients were more likely to die than White patients, 8.4%, 7.7%, and 8.7%, versus 4.1%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In this large national administrative database study, we characterized and helped define risks for inpatient mortality of pediatric leukodystrophies. Inpatient mortality was correlated with clinical risk factors, and further, although small numbers precluded statistical significance, mortality disparities by sex and race were identified. The reasons for these differences are not known and warrant further study. Our findings identify directions for new research and underscore the potential impact of specialized institutional experience.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"4 3","pages":"207-218"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.70086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148974994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}