Vivien X. Xie, Gilbert Vezina, John S. Myseros, Lakshmi Ramachandran Nair, Elizabeth M. Wells, Benjamin I. Siegel
{"title":"Neuromyelitis optica spectrum disorder and autoimmune glial fibrillary acidic protein astrocytopathy overlap syndrome mimicking a pontine mass: The utility of brainstem biopsy","authors":"Vivien X. Xie, Gilbert Vezina, John S. Myseros, Lakshmi Ramachandran Nair, Elizabeth M. Wells, Benjamin I. Siegel","doi":"10.1002/cns3.20103","DOIUrl":"https://doi.org/10.1002/cns3.20103","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Diffuse intrinsic pontine gliomas (DIPG) are high-grade tumors with a dismal prognosis and are classically diagnosed by radiologic features. DIPG is a critical differential consideration for a pediatric patient presenting with an infiltrative brainstem mass. However, inflammatory and infectious etiologies must also be considered, especially in individuals with atypical radiographic features. In a carefully selected clinical scenario, biopsy can be employed to quickly diagnose and direct treatment for patients with brainstem masses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This 10-year-old girl presented with acute onset of dysarthria, ataxia, left-sided weakness, hypertonicity, and dysmetria. Magnetic resonance imaging revealed an infiltrative pontine lesion with atypical features for that of DIPG or specific inflammatory disease. Due to rapid clinical deterioration, stereotactic brainstem biopsy was performed for diagnostic clarity and showed inflammation but no malignant cells. She was then treated for a presumed antibody-mediated autoimmune etiology with evaluation later revealing neuromyelitis optica spectrum disorder (NMOSD) and autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy overlap syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>We present a novel example of pediatric NMOSD and autoimmune GFAP astrocytopathy overlap syndrome originally presenting as an infiltrative pontine mass. Our report highlights the safety and utility of brainstem biopsy for brainstem masses atypical for DIPG.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"46-51"},"PeriodicalIF":0.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688850","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}
Donald L. Gilbert, Deana Crocetti, Paul S. Horn, Steve W. Wu, David A. Huddleston, Jacqueline M. Ehrman, Karlee Y. Migneault, Stewart H. Mostofsky
{"title":"In children with attention-deficit/hyperactivity disorder, less task-related up-modulation of motor cortex during response inhibition","authors":"Donald L. Gilbert, Deana Crocetti, Paul S. Horn, Steve W. Wu, David A. Huddleston, Jacqueline M. Ehrman, Karlee Y. Migneault, Stewart H. Mostofsky","doi":"10.1002/cns3.20101","DOIUrl":"https://doi.org/10.1002/cns3.20101","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study was to identify a quantitative, brain-based measure reflecting impaired response inhibition in children with attention-deficit/hyperactivity disorder (ADHD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this cross-sectional study, we used transcranial magnetic stimulation (TMS) to evoke potentials in hand muscle during both a simple reaction time and a response inhibition task in 8-to-12-year-old children, 41 with ADHD (42% girls, 76% white, mean age 10.3 years) and 38 typically developing controls (53% girls, 74% white, mean age 9.8 years). We used mixed-model linear regressions of evoked potential amplitudes to compare motor cortex excitability at (1) task-onset (“START”: 550 ms prior to action); (2) preparing-to-go (“GO”: 150 ms prior to action); and (3) selecting-to-stop (“STOP”: 150 ms after stop cue). We hypothesized that task-related up-modulation of motor cortex excitability (motor evoked potential amplitudes) would depend both on task (STOP > GO > START) and on diagnosis (controls > patients).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Motor cortex up-modulation was significantly greater for STOP trials than during GO or START. Children with ADHD had both worse response inhibition performance (longer stop-signal reaction times) and significantly less task effect on motor cortex up-modulation. The largest diagnostic difference in motor cortex activation occurred during STOP trials. Reduced up-modulation during stopping was also associated with higher parent-rated symptom severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings suggest that motor cortex up-modulation of excitability, assessed indirectly by TMS motor evoked potentials, reflects the cognitive load during response inhibition tasks and may be a quantitative, brain-based indicator of impaired response inhibition in children with ADHD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"26-36"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688880","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}
Cynthia Sharpe, Gail E. Reiner, Peter W. Reed, Priscilla Joe, Francessa Wilson, Suzanne L. Davis, Lilly Lee, Sonya Wang, Jeff Gold, Richard H. Haas
{"title":"Early neurodevelopmental follow-up results from the NEOLEV2 cohort","authors":"Cynthia Sharpe, Gail E. Reiner, Peter W. Reed, Priscilla Joe, Francessa Wilson, Suzanne L. Davis, Lilly Lee, Sonya Wang, Jeff Gold, Richard H. Haas","doi":"10.1002/cns3.20096","DOIUrl":"https://doi.org/10.1002/cns3.20096","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The aim of this study was to evaluate predictors of neurodevelopmental outcome following hypoxic-ischemic encephalopathy (HIE) and neonatal seizures in the randomized controlled trial cohort from the NEOLEV2 study.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Seizure burden, randomized levetiracetam versus phenobarbital antiseizure medication, and duration of breastfeeding were studied as predictors of neurodevelopmental outcome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Outcome could be assessed in 115 patients with HIE and/or seizures; 89 patients with HIE (50% of 178 patients with HIE in the original cohort), and 60 patients with seizures (63% of 96 patients with seizures in the original cohort), and including 34 patients who had both HIE and seizures. A strong association between seizure burden and outcome was shown. However, the association was not statistically significant after correction for known predictors of outcome: magnetic resonance imaging severity of injury score, Sarnat score, and hypothermia treatment. This study was underpowered to assess for effect of randomized antiseizure medication or duration of breastfeeding on neurodevelopmental outcome; however, no large trends were seen.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This study adds to the debate as to whether neonatal seizures have an independent detrimental effect on neurodevelopmental outcome. Larger studies with longer neurodevelopmental follow-up are needed to investigate these questions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"7-15"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20096","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688878","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}
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen
{"title":"Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus-myoclonus-ataxia syndrome","authors":"Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen","doi":"10.1002/cns3.20098","DOIUrl":"https://doi.org/10.1002/cns3.20098","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Genetic and metabolic conditions can mimic diagnoses such as hypoxic-ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus-myoclonus-ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can be missed, and treatment delayed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A 3-year-old girl with a history of neonatal seizures and previous nondiagnostic epilepsy gene panel presented with seizures, behavioral changes, and discrete episodes of myoclonus, tremors, and abnormal eye movements following a viral illness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective and Interpretation</h3>\u0000 \u0000 <p>Initial evaluation was concerning for OMAS, though metabolic causes remained on the differential. Metabolic testing revealed elevated glycine and glutamine, suggestive of a possible inborn error of metabolism. Whole exome sequencing demonstrated compound heterozygous variants in the <i>PLPBP</i> gene associated with pyridoxine-dependent epilepsy (PDE), consistent with her clinical presentation and leading to her diagnosis of PLPBP deficiency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Clinicians should gauge the indications, advantages, and limitations of targeted sequencing panels versus whole exome sequencing. Continued evaluation is recommended in patients with a history of neonatal and infantile epilepsy, especially if they present with episodic crises related to viral illness even if prior genetic and metabolic investigations have been nondiagnostic. This report also highlights the clinical overlap between PLPBP deficiency and OMAS, and the differences in pathophysiology, treatment pathways, and implications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"52-56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20098","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143688879","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}
Toritseju I. Kpenosen, Owen N. Chandler, Scott I. Otallah
{"title":"Diencephalic Syndrome in Adolescents: A Case Series","authors":"Toritseju I. Kpenosen, Owen N. Chandler, Scott I. Otallah","doi":"10.1002/cns3.20099","DOIUrl":"https://doi.org/10.1002/cns3.20099","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Two pediatric patients presented with unintentional weight loss despite normal caloric intake. Both patients later developed neurological symptoms, and a neoplastic lesion was detected in the hypothalamic-optic chiasmatic region. The location of the tumor and the significant weight loss aligned with diencephalic syndrome (DES), which typically occurs in infants and young children. However, both patients were in their teens and thus greatly deviated from the normal age range of this disorder.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods/Results</h3>\u0000 \u0000 <p>After chart review we analyzed the patients with a focus on the similarities in their clinical course and final diagnosis. Both patients were ultimately diagnosed with DES. Managing the patients' tumors allowed them to experience significant weight gain and return to daily life activities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Although the exact pathogenesis for DES is not fully understood, the symptoms are associated with hypothalamic dysfunction. DES has been accepted as a disorder of the hypothalamic hunger and satiety control mechanisms. With both patients having tumors in the hypothalamic-optic chiasmatic region, it is expected that the growing mass would compress the hypothalamus and disrupt normal hypothalamic function. Because of the hypothalamus' role in hunger and satiety control mechanisms, it is logical that these disruptions could produce abnormal weight changes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>DES is a rare condition and typically only presents in infants and toddlers. Thus, this syndrome occurring in teenage populations represents a rare diagnosis in an unexpected demographic. The novelty of this presentation led to delays in diagnosis and effective treatment. Greater awareness of the occurrence of DES in atypical demographics is needed to ensure proper patient management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"37-40"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20099","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689123","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}
Laura K. Winstone-Weide, Kelly Gettig, Cynthia A. Austin
{"title":"Postconcussive symptom severity, risk factors for prolonged recovery, and mental health history: Pathways of influence in a diverse pediatric sample","authors":"Laura K. Winstone-Weide, Kelly Gettig, Cynthia A. Austin","doi":"10.1002/cns3.20094","DOIUrl":"https://doi.org/10.1002/cns3.20094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The objective of this study was to confirm previous risk factors for concussion recovery in a diverse pediatric sample and to elucidate the pathways by which individual mental health factors influence postconcussive symptom reporting and time to clearance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Subjects between 13 and 17 years of age (<i>N</i> = 642; mean age = 15.40; 45% female) were analyzed from a prospectively completed database associated with a multidisciplinary TBI/concussion clinic in the southwest United States. Fifty-four percent of participants identified as Hispanic, 41% received medical coverage through Medicaid, and 54% were injured during participation in an organized sports team. Mediation analysis using a structural equational framework was employed to examine the significance of both direct and indirect effects from preinjury factors (e.g., prior concussions, female gender, history of migraines, anxiety, depression, attention-deficit/hyperactivity disorder [ADHD], and learning disorders) on postinjury symptom reporting (at baseline and visit 1) and time to clearance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Higher symptom reporting at baseline was significantly associated with history of anxiety, depression, ADHD, headaches, and female gender. Higher symptom reporting at visit 1 was significantly associated with baseline symptoms, female gender, and history of anxiety. Symptom scores at baseline fully accounted for the relation between history of depression and symptom scores at visit 1 and only partially accounted for the relation between history of anxiety and symptom scores at visit 1. Only history of anxiety indirectly contributed to greater days to clearance through higher symptom scores at visit 1.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>This study supports the concept that heterogenous experience following injury is influenced by preinjury factors and extends the generalizability of risk factors to a diverse sample of youth in terms of ethnicity, insurance status/type, and mechanism of injury. Anxiety and depression represent important noninjury factors that warrant considerable attention during concussion treatment and management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"281-289"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20094","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869065","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}
Isabella Eiler, Hope M. Reecher, Katherine Carlton, Erwin Cabacungan, Susan Cohen, Samuel Adams, Jenna Jozwik, Avantika Singh
{"title":"GRIN1-related epilepsy in a neonate with response to memantine and vigabatrin","authors":"Isabella Eiler, Hope M. Reecher, Katherine Carlton, Erwin Cabacungan, Susan Cohen, Samuel Adams, Jenna Jozwik, Avantika Singh","doi":"10.1002/cns3.20088","DOIUrl":"https://doi.org/10.1002/cns3.20088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>A newborn with <i>GRIN1</i>-related early infantile developmental and epileptic encephalopathy (DEE) with striking pharmacoresistance is described with emphasis on potential therapy with memantine and vigabatrin.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The term neonate manifested electrographic and electroclinical seizures from the first day of life with focal tonic seizures with apnea, bradycardia, and desaturations and later developed epileptic spasms and a hyperkinetic movement disorder. Multiple antiseizure medication trials were unsuccessful. Brain magnetic resonance imaging displayed extensive malformations of cortical development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Whole-exome sequencing demonstrated a de novo novel <i>GRIN1</i> variant (1916T > G,p.Phe639Cys), which can be associated with NMDA receptor dysfunction. Gain-of-function mutation was suspected based on phenotype correlation. Seizures markedly improved after initiation of memantine, an NMDA-receptor antagonist. Memantine was complemented by the concurrent use of vigabatrin, initiated 4 days earlier due to emergence of epileptic spasms. Significant reduction in seizures facilitated discharge from neonatal intensive care unit.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p><i>GRIN1</i>-related disorders occur due to NMDA receptor dysfunction. Patients with gain-of-function <i>GRIN1</i> mutations who present with the phenotype of DEE with extensive bilateral polymicrogyria may benefit from a trial of NMDA-receptor antagonist therapy and vigabatrin. Further research is warranted to better understand this markedly pharmacoresistant condition and to investigate targeted therapies in <i>GRIN1</i> DEE.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"299-302"},"PeriodicalIF":0.0,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868805","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":"Charcot-Marie-Tooth disease in children","authors":"Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan","doi":"10.1002/cns3.20093","DOIUrl":"https://doi.org/10.1002/cns3.20093","url":null,"abstract":"<p>Charcot-Marie-Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"256-268"},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20093","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868424","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}
Eleonora Tamilia, Navaneethakrishna Makaram, Georgios Ntolkeras, Assia Chericoni, Sebastian Holst, Joerg Hipp, Alexander Rotenberg
{"title":"Exaggerated T-wave alternans in children with Angelman syndrome","authors":"Eleonora Tamilia, Navaneethakrishna Makaram, Georgios Ntolkeras, Assia Chericoni, Sebastian Holst, Joerg Hipp, Alexander Rotenberg","doi":"10.1002/cns3.20092","DOIUrl":"https://doi.org/10.1002/cns3.20092","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to test whether T-wave alternans (TWA), which is a marker of susceptibility to ventricular fibrillation, is abnormal in children with Angelman syndrome (AS) compared with typically developing children (TDC), and whether it can be used as a biomarker of AS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Using surface electrocardiogram (ECG), we calculated TWA in AS and compared it between AS and TDC (Wilcoxon rank sum test). We then performed logistic regression to test TWA ability to distinguish AS from TDC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observed higher TWA in AS than TDC (44 vs. 33 uV, <i>p</i> = 0.009), while heart rate did not differ (<i>p</i> = 0.26), nor its variability (<i>p</i> = 0.72). TWA values enabled discrimination between AS and TDC (<i>p</i> = 0.0008) with accuracy of 81%, positive predictive value of 72%, and negative predictive value of 100%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Our findings suggest that ECG in children with AS contains evidence of acquired cardiac abnormality via pathologically increased TWA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"308-314"},"PeriodicalIF":0.0,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20092","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868423","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}
Chrisoula Cheronis, Grant L. Lin, Andrew Silverman, Alexandra Johnson, Sarah Lee
{"title":"The use of dynamic magnetic resonance angiography in the diagnosis of rotational vertebral artery syndrome","authors":"Chrisoula Cheronis, Grant L. Lin, Andrew Silverman, Alexandra Johnson, Sarah Lee","doi":"10.1002/cns3.20091","DOIUrl":"https://doi.org/10.1002/cns3.20091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Rotational vertebral artery (VA) syndrome represents a rare mechanical vasculopathy that can lead to vertebrobasilar insufficiency and ischemic stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We describe a 10-year-old boy with a history of chronic morning emesis who presented with acute onset dizziness, gait instability, and vomiting and was diagnosed with acute ischemic posterior circulation stroke.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Contrast-enhanced magnetic resonance angiography (MRA) of the head and neck with dynamic positioning demonstrated loss of flow-related enhancement with head tilted to the left, conferring a diagnosis of rotational VA syndrome. He started aspirin monotherapy and subsequently underwent C1 laminectomy, with both radiographic and clinical improvement on follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Dynamic contrasted-enhanced MRA imaging can serve as a noninvasive alternative to digital subtraction angiography in the diagnosis of rotational VA syndrome and should be considered in suspected cases of pediatric rotational arteriopathy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"2 4","pages":"303-307"},"PeriodicalIF":0.0,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20091","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868050","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}