Journal of Child Neurology最新文献

{"title":"Clinical Features and Predictors of Unfavorable Outcomes in Infantile Epileptic Spasms Syndrome: Results from a Multiancestry Cohort.","authors":"Dana Thaher, Abdullah Alkfaween, Ruba Benini","doi":"10.1177/08830738251326631","DOIUrl":"https://doi.org/10.1177/08830738251326631","url":null,"abstract":"<p><p><b>Background:</b> Infantile epileptic spasms syndrome is an epileptic encephalopathy with poor prognosis. <b>Objective:</b> To describe clinical features and predictors of unfavorable outcomes of infantile epileptic spasms syndrome in a multiancestry cohort. <b>Methods:</b> Retrospective cross-sectional chart review analysis at a single tertiary pediatric hospital in 56 patients with infantile epileptic spasms syndrome. <b>Results:</b> Fifty-nine percent were males. Most patients (57%) were from the Middle East North African region. The mean age at onset of spasms was 6.6 months (±3.5 mo). At presentation, 80% of patients had a preexisting neurologic disorder, an abnormal development (66%), and/or an abnormal neurologic examination (73%). Hypsarrhythmia on electroencephalography (EEG) was reported in 55% of patients. Etiology was identified in 75%. Abnormalities on neuroimaging were common (70%), and 54% had abnormal genetic testing. The preferred first-line treatment was vigabatrin (66%) followed by high-dose oral steroids (16%). Only a minority (∼30%) experienced complete resolution of their epileptic spasms/hypsarrhythmia by 2 weeks. At the last follow-up, 84% of patients had an abnormal development and 40% were still on antiseizure medications. Comorbidities were common (75%). The majority of patients had unfavorable outcomes, including abnormal development (84%) and/or drug-resistant epilepsy (45%). Preexisting abnormal development/neurologic examination or neurologic conditions, perinatal risk factors, neuroimaging abnormalities, and an identified etiology were associated with increased odds ratios for unfavorable developmental outcomes or drug-resistant epilepsy. <b>Significance:</b> Clinical features and outcomes of infantile epileptic spasms syndrome in this multiancestry cohort confirms findings of previous epidemiologic studies, recognizes some differences, and highlights risk factors that can be used for early identification of patients with predicted unfavorable outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251326631"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>TANGO-2</i>: A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy, Rhabdomyolysis, and Cardiac Rhythm Disorders in 2 Children.","authors":"Khairunnisa Mukhtiar, Shahnaz Ibrahim, Quart-Ul-Ain Khalid","doi":"10.1177/08830738251328404","DOIUrl":"https://doi.org/10.1177/08830738251328404","url":null,"abstract":"<p><p>Biallelic pathogenic or likely pathogenic variants in Transport and Golgi Organization 2 (<i>TANGO-2</i>) are associated with a spectrum of clinical features including encephalopathy, rhabdomyolysis, cardiac rhythm disorders, and neurologic regression. We are reporting on 2 unrelated children with biallelic <i>TANGO-2</i> pathogenic variants. These variants were identified through a Next Generation Sequencing (NGS) panel of genes associated with hereditary rhabdomyolysis. Both children had a history of developmental delay, especially in their motor milestones. They also experienced episodic transient weakness with acute illness. One of the children's siblings had similar complaints and died at an early age. During their illness, both children developed extreme lethargy with very high CPK levels, lactic acidosis, rising trends of transaminases, and recurrent hypoglycemia. Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy. Despite intensive symptomatic management, both patients died of cardiac failure because of fatal ventricular arrhythmia. Genetic testing revealed the presence of biallelic pathogenic variants <i>TANGO-2</i>. This rare genetic condition should be suspected in any patient with episodic recurrent weakness, rhabdomyolysis, abdominal pain, and cardiac arrhythmias, because of its diverse clinical presentation. However, early diagnosis is challenging because there are no specific biochemical markers for the disease. There is strong evidence that vitamin B supplementation can significantly reduce the number of metabolic crises in these children. Although this is not a targeted therapy, it can be a potentially life-saving treatment for these patients.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328404"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.","authors":"Jihye You, Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Mi-Sun Yum, Beom Hee Lee, Jeong Jin Yu","doi":"10.1177/08830738251327248","DOIUrl":"https://doi.org/10.1177/08830738251327248","url":null,"abstract":"<p><p>Becker muscular dystrophy is an infrequent genetic disorder that results from dystrophin gene mutations. Cardiac involvement is a primary manifestation. The time of onset of underlying cardiac functional abnormalities remains largely undefined. This study involved 17 pediatric patients with Becker muscular dystrophy who visited our hospital between January 1, 2002, and December 31, 2018, and underwent echocardiographic imaging analysis. Another set of 17 controls matched for age and sex to the patient cohort was chosen for comparison. Patients with Becker muscular dystrophy demonstrated a decline in echocardiographic measures, especially deformation parameters, compared with the control group. This alteration is influenced by age. Our findings suggest that early echocardiographic monitoring may help identify subclinical cardiac dysfunction, particularly in younger patients (<10 years of age).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327248"},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Clinical and Genetic Characterization of Kabuki Syndrome: A Case Series Study.","authors":"Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano","doi":"10.1177/08830738241291622","DOIUrl":"10.1177/08830738241291622","url":null,"abstract":"<p><p>Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the <i>KMT2D</i> and <i>KDM6A</i> genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the <i>KMT2D</i> and <i>KDM6A</i> genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"208-217"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142836666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroencephalographic (EEG) Stages in Patients With Cerebral Edema Following Cardiac Arrest.","authors":"David E Horvat, Julia S Keenan, Caroline Conley, Katelyn Staso, Dana B Harrar, Arnold J Sansevere","doi":"10.1177/08830738241289161","DOIUrl":"10.1177/08830738241289161","url":null,"abstract":"<p><p>ObjectiveTo describe electroencephalographic (EEG) changes in pediatric patients with cerebral edema after cardiac arrest.MethodsA retrospective study of patients admitted to the pediatric intensive care unit from July 2021 to January 2023. We included patients with cardiac arrest and changes in EEG background with clinical changes and/or neuroimaging consistent with cerebral edema. We excluded patients with electrographic seizures. We applied American Clinical Neurophysiology Society standardized critical care EEG terminology to classify EEG background, noting timing of the change in background classification. Clinical variables included age, sex, and neuroimaging findings and were described with descriptive statistics.ResultsNine patients met inclusion criteria, with median age 24 months (interquartile range 21-49), and 89% were male. There were 5 common EEG stages: stage 1, burst suppression/burst attenuation; stage 2, continuous/discontinuous ± multifocal sporadic epileptiform discharges ± rhythmic or periodic patterns; stage 3, discontinuous/burst suppression/burst attenuation ± rhythmic or periodic patterns; stage 4, gradual voltage suppression; and stage 5, diffuse suppression. The ranges for each stage were as follows: stage 1, 2-10 hours; stage 2, 2.5-15.5 hours; stage 3, 0.5-6.24 hours; and stage 4, 0.5-11 hours. We could not calculate the duration of stage 5 given no uniform time to EEG discontinuation. One patient had a clinical change in stage 3. Remaining patients presented with fixed and dilated pupils with global anoxic injury.ConclusionsEEG stages of cerebral edema have not been described after pediatric cardiac arrest. These stages may be relevant to other patient populations. Early stages may be a therapeutic target for intracranial pressure-lowering medications and/or neuroprotective strategies to minimize sequalae of cerebral edema.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"180-185"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low Lesion Clearance Rates in Neurocysticercosis: Is It Time to Review Guidelines?","authors":"Prabal Barman, Naveen Sankhyan, Renu Suthar, Sameer Vyas, Lokesh Saini, Arushi Saini, Jitendra K Sahu","doi":"10.1177/08830738241290550","DOIUrl":"10.1177/08830738241290550","url":null,"abstract":"<p><p>BackgroundThe standard treatment guidelines of neurocysticercosis have been described as per computed tomography (CT)-based studies. We aimed to prospectively study if posttreatment magnetic resonance imaging (MRI) clearance rates of neurocysticercosis were like those reported in literature using CT.MethodsA prospective observational study in newly diagnosed children with neurocysticercosis was undertaken. Children were treated with antihelminthics and steroids and followed up after 6 months. The primary objective was to study the proportion of children with single-lesion neurocysticercosis who were in radiologic resolution at 6 months and clinical remission (seizure-free for the preceding 3 months).ResultsEighty of 128 consecutive children screened were included (single lesion, 65; multiple lesions, 15). Seventy-two children were evaluated at 6 months. Seizure recurrence was seen in 5 (6.2%). Brain MRI showed an overall clearance of lesions in 10 (14%) children. In the children with single-lesion neurocysticercosis (65), 59 were followed up at 6 months, and lesions resolved in 9 (15.3%, 95% confidence interval of 6.1-24.4).ConclusionsIn children with single-lesion neurocysticercosis treated with antihelminthics and corticosteroids, the lesion resolution rate is only 15% at 6 months. Thus, there is a need to review old recommendations and use MRI as a standard outcome measure.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"186-190"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Nomogram and Risk Grouping System for Predicting 1-Year Overall Survival of Patients With Atypical Teratoid/Rhabdoid Tumors.","authors":"Xu Kang, Yabing Zhou, Fangjie Shen, Jiaqi Feng, Yunkun Wang, Jie Ma, Qiang Qiang, Xiaoqiang Wang","doi":"10.1177/08830738241281393","DOIUrl":"10.1177/08830738241281393","url":null,"abstract":"<p><p>PurposeAtypical teratoid/rhabdoid tumor (AT/RT) is a kind of central nervous system malignant tumor in children. In this study, we aimed to develop a practically clinical nomogram and risk grouping system to predict 1-year overall survival for patients with atypical teratoid/rhabdoid tumor.MethodsThe nomogram was constructed based on the pediatric tumor registry of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine. Fifty-four information-integrated patients with atypical teratoid/rhabdoid tumor were included from the database. Cox regression analyses were used to select independent prognostic factors. Based on the fitted multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. Moreover, the nomogram was validated by assessing its discrimination and calibration.ResultsIn these patients, age at diagnosis, the extent of tumor resection, radiotherapy, and chemotherapy were included in the multivariate Cox regression model. Based on this multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. The nomogram had good discrimination (the concordance index was 0.781) and calibration curves showed no deviation from reference lines. Decision curve analysis demonstrated this nomogram was useful for clinical practice. The risk grouping system was built based on nomogram-derived risk scores, which could classify patients into 3 risk groups. Compared with the low-risk group, the risk of 1-year death was significantly higher in the intermediate-risk group (hazard ratio = 1.42, 95%, confidence intervals = 0.49-4.11) and high-risk group (hazard ratio = 9.78, 95% confidence intervals = 3.53-27.1).ConclusionA nomogram and risk grouping system were built to predict for the 1-year overall survival of atypical teratoid/rhabdoid tumor patients. The nomogram could facilitate a personalized prognostic evaluation for atypical teratoid/rhabdoid tumor patients and help medical practitioners make better treatment.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"153-161"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Socioecological Framing of the Experiences of Caregivers of Children With Cerebral Palsy in South Africa Post COVID-19.","authors":"Skye Adams, Aneesah Moosa, Razina Bhorat","doi":"10.1177/08830738241292844","DOIUrl":"10.1177/08830738241292844","url":null,"abstract":"<p><p>BackgroundPost COVID-19, caregivers of children with cerebral palsy in South Africa face unique challenges.MethodsA qualitative exploratory approach was used. Semistructured interviews were conducted with 14 caregivers of children with cerebral palsy in Gauteng, South Africa. Interviews were audio-recorded, transcribed verbatim, and analysed using thematic analysis.ResultsLockdown restrictions have had lasting effects on families' routines and events, reshaping their internal and external functioning. The pandemic introduced new challenges, such as increased physical pain due to the child's weight gain, persistent emotional distress, and a lack of social and governmental support.ConclusionPost COVID-19, it is crucial to develop innovative support mechanisms for children with cerebral palsy and their caregivers, focusing on comprehensive health services, robust social support, and targeted interventions to address the ongoing and new challenges faced by these families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"191-199"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disney to Pixar Transition Causing Epilepsy: A Case Report of Reflex Epilepsy.","authors":"Disha Bhargava, Seth P Devries","doi":"10.1177/08830738241292652","DOIUrl":"10.1177/08830738241292652","url":null,"abstract":"<p><p>This case report describes a rare instance of reflex seizures in a 4-year-old boy with a complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced seizures triggered exclusively by a specific visual stimulus: the transition scene from the Disney castle to the Pixar lamp in Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves and diffuse slowing, suggesting parietal involvement and complex cortical processing. The findings highlight the individualized nature of reflex epilepsy and highlight the need for a nuanced understanding of specific seizure triggers. Effective management included avoiding the identified visual stimulus and adjusting medication based on the patient's response. This case emphasizes the intricate relationship between sensory processing and epileptogenic mechanisms, contributing to our knowledge of cortical excitability and guiding targeted treatment strategies for reflex seizures.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"218-222"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142522034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroborreliosis Presenting as Urinary Retention: Case Report.","authors":"Mário Ribeiro, Sofia Lopes, Helena Silva, Antonio Matos, Marlene Rodrigues","doi":"10.1177/08830738241292843","DOIUrl":"10.1177/08830738241292843","url":null,"abstract":"<p><p>Lyme disease is a tick-borne infectious disease caused by the spirochete <i>Borrelia burgdorferi</i>. Voiding dysfunction is a rare manifestation of neuroborreliosis with only a few cases reported. Here we describe a case of a 6-year-old male child with an acute urinary retention, paraparesis, and voiding difficulty in whom neuroborreliosis was diagnosed through serologic tests for antibodies, Western blot testing confirmation and intrathecal antibody synthesis. Magnetic resonance imaging (MRI) of the spine led to the diagnosis of acute transverse myelitis and a urodynamic study demonstrated detrusor areflexia. He received a 4-week course of intravenous ceftriaxone (2 g/d). The patient has recovered from the paraparesis but still suffers from a neurogenic bladder.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"223-226"},"PeriodicalIF":2.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142501173","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}