Pediatric neurology最新文献

{"title":"Calcitonin Gene-Related Peptide Inhibitors in the Treatment of Migraine in the Pediatric and Adolescent Populations: A Review","authors":"Lisa Moore DO ,&nbsp;Ann Pakalnis MD","doi":"10.1016/j.pediatrneurol.2024.05.013","DOIUrl":"10.1016/j.pediatrneurol.2024.05.013","url":null,"abstract":"<div><p>There are limited well-studied treatments for migraine in the pediatric population. Calcitonin gene-related peptide (CGRP) inhibitors are an established safe and effective treatment in adults, and use may be appropriate for pediatric patients in certain clinical situations. We describe migraine pathophysiology as it relates to CGRP, provide an overview of available medications, and discuss clinical usage in this population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141139291","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":"Solitary Tumefactive Demyelinating Lesions in Children: Clinical and Magnetic Resonance Imaging Features, Pathologic Characteristics, and Outcomes","authors":"Sarah Frankl MD ,&nbsp;Angela Viaene MD, PhD ,&nbsp;Arastoo Vossough MD, PhD ,&nbsp;Amy Waldman MD ,&nbsp;Sarah Hopkins MD, MSPH ,&nbsp;Brenda Banwell MD","doi":"10.1016/j.pediatrneurol.2024.05.012","DOIUrl":"10.1016/j.pediatrneurol.2024.05.012","url":null,"abstract":"<div><h3>Background</h3><p>Isolated tumefactive demyelinating lesions (≥2 cm) may be difficult to distinguish from contrast-enhancing brain tumors, central nervous system infections, and (rarely) tissue dysgenesis, which may all occur with increased signal on T2-weighted images. Establishing an accurate diagnosis is essential for management, and we delineate our single-center experience.</p></div><div><h3>Methods</h3><p>We performed a retrospective review of medical records, imaging, and biopsy specimens for patients under 18 years presenting with isolated tumefactive demyelination over a 10-year period.</p></div><div><h3>Results</h3><p>Ten children (eight female) met inclusion criteria, with a median age of 14.1 years. Lesions were most likely to involve the thalamus (six of 10), brainstem (five of 10), basal ganglia (four of 10), or corpus callosum (four of 10). Eighty percent had perilesional edema at presentation, and 60% had midline shift. Biopsies demonstrated demyelination with perivascular lymphocytic infiltration and axonal damage ranging from mild to severe. All patients were initially treated with high-dose corticosteroids, and eight of 10 required additional medical therapies such as intravenous immunoglobulin, plasmapheresis, cyclophosphamide, or rituximab. Increased intracranial pressure was managed aggressively with two of 10 patients requiring decompressive craniectomies. Clinical outcomes varied.</p></div><div><h3>Conclusions</h3><p>Solitary tumefactive demyelinating lesions are rare, and aggressive management of inflammation and increased intracranial pressure is essential. Biopsy is helpful to evaluate for other diagnoses on the differential and maximize therapies. Treatment beyond initial therapy with corticosteroids is often required. Isolated tumefactive demyelinating lesions are uncommon; multicenter natural history studies are needed to better delineate differential diagnoses and optimal therapies.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141142518","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":"Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago","authors":"","doi":"10.1016/j.pediatrneurol.2024.05.011","DOIUrl":"10.1016/j.pediatrneurol.2024.05.011","url":null,"abstract":"<div><h3>Objective</h3><p>To study the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in individuals with dystrophinopathy compared with the general population.</p></div><div><h3>Methods</h3><p>Retrospective chart review to examine the prevalence of ADHD and ASD, diagnosed both formally and informally, in individuals with dystrophinopathy receiving care in the multidisciplinary neuromuscular clinic at the Ann and Robert H. Lurie Children's Hospital of Chicago.</p></div><div><h3>Results</h3><p>Our results demonstrate an ADHD prevalence of 18.40% and ASD prevalence of 12.73%, both significantly higher than those reported for the general population. Our results revealed a significant association between ADHD diagnosis and a positive family history but did not show a statistically significant association between prevalence of ADHD and the use of steroids.</p></div><div><h3>Conclusion</h3><p>Based on our current study results, we plan to further evaluate the prevalence, in a prospective cross-sectional manner, using validated screens for both ADHD and ASD.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141140690","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":"An Unusual Case of Hypothalamic Hamartoma With Nongelastic Seizures and Posterior Cortex Connectivity","authors":"Ruba Al-Ramadhani MD ,&nbsp;Sonam Bhalla MD ,&nbsp;Donald J. Bearden PhD ,&nbsp;Kimi Ono PhD ,&nbsp;Joshua Chern MD ,&nbsp;Ammar Kheder MD","doi":"10.1016/j.pediatrneurol.2024.05.009","DOIUrl":"10.1016/j.pediatrneurol.2024.05.009","url":null,"abstract":"<div><h3>Background</h3><p>To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management.</p></div><div><h3>Methods</h3><p>A detailed retrospective chart review and literature search were performed using Pubmed and Embase.</p></div><div><h3>Results</h3><p>We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months. Stereoelectroencephalography exploration confirmed the onset in hypothalamic hamartoma with rapid propagation to the temporal-parietal-occipital association cortex and precuneus. The patient's epilepsy was cured with laser ablation of the hamartoma.</p></div><div><h3>Conclusion</h3><p>Published literature mostly describes a more anterior frontal or temporal epileptic network with primarily gelastic seizures being the hallmark type of seizures associated with hypothalamic hamartoma. We highlight a rare posterior cortex network with an atypical presentation of focal nonmotor seizures with impaired awareness in the setting of a hypothalamic hamartoma. Stereotactic laser ablation of the hamartoma rendered seizure freedom. Early diagnosis and appropriate treatment can lead to seizure freedom.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141136012","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":"Editorial—Pediatric Neurology Trainee Award","authors":"J. Nicholas Brenton MD ,&nbsp;Lauren A. Beslow MD, MSCE ,&nbsp;Francis J. DiMario Jr. MD, MA ,&nbsp;Jonathan Santoro ,&nbsp;Alcy Torres ,&nbsp;Yvonne W. Wu MD, MPH","doi":"10.1016/j.pediatrneurol.2024.04.014","DOIUrl":"10.1016/j.pediatrneurol.2024.04.014","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065835","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":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(24)00183-8","DOIUrl":"https://doi.org/10.1016/S0887-8994(24)00183-8","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141068551","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":"Early Subclinical Status Epilepticus May Contribute to Developmental Delays in Infants With Tuberous Sclerosis Complex","authors":"Alexandria E. Melendez-Zaidi MD, PhD ,&nbsp;Kayla L. Pence MD ,&nbsp;Rohini Coorg MD","doi":"10.1016/j.pediatrneurol.2024.05.010","DOIUrl":"10.1016/j.pediatrneurol.2024.05.010","url":null,"abstract":"<div><p>We present a case of a newborn with a prenatally discovered cardiac rhabdomyoma leading to early genetic diagnosis of tuberous sclerosis complex (TSC). This early diagnosis prompted a presymptomatic electroencephalography (EEG) that revealed subclinical seizures meeting the definition for status epilepticus on day 1 of life. Antiseizure medications (ASMs), including vigabatrin, were started. The EPISTOP and PREVeNT trials demonstrated that early life initiation of vigabatrin may reduce the degree of refractory epilepsy and epileptic spasms (ES) in this population (TSC). Although neonatal seizures are a known entity in TSC, continuous neonatal EEG monitoring is not standard at birth. This case supports early consideration for neonatal EEG monitoring to identify and treat neonatal seizures, reduce risk for infantile spasms, and potentially improve neurodevelopmental outcomes.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141036776","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":"Genetic Testing in Pediatric Epilepsy: Tools, Tips, and Navigating the Traps","authors":"Sayoni Roy Chowdhury MD, DM (Paediatric Neurology) ,&nbsp;Robyn Whitney MD, CSCN (EEG) ,&nbsp;Rajesh RamachandranNair MD, DM, CSCN (EEG) ,&nbsp;Sunita Bijarnia Mahay DCH, DNB (Ped) ,&nbsp;Suvasini Sharma MD, DM (Paediatric Neurology)","doi":"10.1016/j.pediatrneurol.2024.05.008","DOIUrl":"10.1016/j.pediatrneurol.2024.05.008","url":null,"abstract":"<div><p>With the advent of high-throughput sequencing and computational methods, genetic testing has become an integral part of contemporary clinical practice, particularly in epilepsy. The toolbox for genetic testing has evolved from conventional chromosomal microarray and epilepsy gene panels to state-of-the-art sequencing techniques in the modern genomic era. Beyond its potential for therapeutic benefits through precision medicine, optimizing the choice of antiseizure medications, or exploring nonpharmacological therapeutic modalities, genetic testing carries substantial diagnostic, prognostic, and personal implications. Developmental and epileptic encephalopathies, the coexistence of neurodevelopmental comorbidities, early age of epilepsy onset, unexplained drug-refractory epilepsy, and positive family history have demonstrated the highest likelihood of yielding positive genetic test results. Given the diagnostic efficacy across different testing modalities, reducing costs of next-generation sequencing tests, and genetic diversity of epilepsies, exome sequencing or genome sequencing, where feasible and available, have been recommended as the first-tier test. Comprehensive clinical phenotyping at the outset, corroborative evidence from radiology and electrophysiology-based investigations, reverse phenotyping, and periodic reanalysis are some of the valuable strategies when faced with inconclusive test results. In this narrative review, the authors aim to simplify the approach to genetic testing in epilepsy by guiding on the selection of appropriate testing tools in the indicated clinical scenarios, addressing crucial aspects during pre- and post-test counseling sessions, adeptly navigating the traps posed by uncertain or negative genetic variants, and paving the way forward to the emerging testing modalities beyond DNA sequencing.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141037795","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":"Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series","authors":"Michiru Sasaki MD ,&nbsp;Tohru Okanishi PhD, MD ,&nbsp;Tsuyoshi Matsuoka MD ,&nbsp;Ayumi Yoshimura MD ,&nbsp;Shinsuke Maruyama PhD, MD ,&nbsp;Tadashi Shiohama PhD, MD ,&nbsp;Hiroki Hoshino MD ,&nbsp;Tatsuo Mori PhD, MD ,&nbsp;Hisakazu Majima MD ,&nbsp;Hiroshi Matsumoto PhD, MD ,&nbsp;Satoru Kobayashi PhD, MD ,&nbsp;Tomohiro Chiyonobu PhD, MD ,&nbsp;Takeshi Matsushige PhD, MD ,&nbsp;Kazuyuki Nakamura PhD, MD ,&nbsp;Kazuo Kubota PhD, MD ,&nbsp;Ryuta Tanaka MD ,&nbsp;Takako Fujita PhD, MD ,&nbsp;Hideo Enoki PhD, MD ,&nbsp;Yasuhiro Suzuki PhD, MD ,&nbsp;Sadao Nakamura MD ,&nbsp;Yoshihiro Maegaki PhD, MD","doi":"10.1016/j.pediatrneurol.2024.05.007","DOIUrl":"10.1016/j.pediatrneurol.2024.05.007","url":null,"abstract":"<div><h3>Background</h3><p>Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS).</p></div><div><h3>Methods</h3><p>We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events.</p></div><div><h3>Results</h3><p>The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs.</p></div><div><h3>Conclusion</h3><p>ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141055430","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":"Adapting Evidence-Based Practice Guidelines for Emergency Management of Seizures in Children Beyond the Neonatal Period","authors":"Ashraf Abdel Baky MD, PhD ,&nbsp;Ashraf Al Refaei MD, PhD ,&nbsp;Ebtesam El Melegy MD, PhD ,&nbsp;Hayam Tantawi MD, PhD ,&nbsp;Lobna Mansour MD, PhD ,&nbsp;Moustafa Mohamed MD, PhD ,&nbsp;Omnia El Rashidy MD, PhD ,&nbsp;Sahar Hassanein MD, PhD ,&nbsp;Tarek Omar MD, PhD ,&nbsp;Abdelsattar Elsayeh MD, PhD ,&nbsp;Hammouda ElGazzar MD, PhD ,&nbsp;Yasser Sami Amer MD ,&nbsp;Marwa Abd Elmaksoud MD, PhD","doi":"10.1016/j.pediatrneurol.2024.05.004","DOIUrl":"10.1016/j.pediatrneurol.2024.05.004","url":null,"abstract":"<div><h3>Background</h3><p>The presented evidence-based clinical practice guideline (CPG) is proposed as a National CPG where we adapted the international recommendations for the emergency management of seizures in children beyond the neonatal period to suit the health care in Egypt. The quality of evidence and the strength of recommendations are indicated. This study aimed to standardize the treatment of acute epileptic seizures and to provide an easy-to-apply acute treatment protocol that will allow immediate and appropriate seizure control.</p></div><div><h3>Methods</h3><p>This is part of a larger program by the Egyptian Pediatric Clinical Practice Guidelines Committee (EPG) in collaboration with the staff of pediatric departments of 15 Egyptian universities and the National Research Centre. EPG was affiliated later to the Supreme Council of the Egyptian University Hospitals aiming to define the topics of, assign authors to, and assist in the adaptation of pediatric evidence-based CPGs according to a national strategic plan (<span>http://epg.edu.eg</span><svg><path></path></svg>). The committee is guided by a formal CPG adaptation methodology: the “Adapted ADAPTE.”</p></div><div><h3>Results</h3><p>The Egyptian Childhood Seizure Group (ECSG) reviewed the results of the Appraisal of Guidelines for Research and Evaluation II assessment and decided to adapt the recommendations of three source CPGs: American Epilepsy Society, Italian League Against Epilepsy, Neurocritical Care Society, and Neurologic &amp; Psychiatric Society of Zambia. Eight implementation tools were included. A comprehensive set of multifaceted CPG implementation strategies was provided for the clinicians, patients, nurses, and other relevant stakeholders contextualized to the national settings.</p></div><div><h3>Conclusions</h3><p>Our experience with this adaptation methodology provides useful insight into its national utilization in Egypt.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141036279","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}