Child's Nervous System最新文献

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Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) for paediatric intracranial cavernous malformations: case series and review of the literature. 磁共振引导激光间质热治疗小儿颅内海绵状血管瘤:病例系列及文献回顾。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-17 DOI: 10.1007/s00381-025-06839-9
Giuseppe Mirone, Giulia Meccariello, Francesco Tengattini, Domenico Cicala, Nicola Onorini, Eugenio Covelli, Giuseppe Cinalli
{"title":"Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) for paediatric intracranial cavernous malformations: case series and review of the literature.","authors":"Giuseppe Mirone, Giulia Meccariello, Francesco Tengattini, Domenico Cicala, Nicola Onorini, Eugenio Covelli, Giuseppe Cinalli","doi":"10.1007/s00381-025-06839-9","DOIUrl":"https://doi.org/10.1007/s00381-025-06839-9","url":null,"abstract":"<p><strong>Purpose: </strong>Microsurgical resection is the standard for treating intracranial cavernous malformations (CMs), but minimally invasive approaches are gaining popularity, particularly for deep-seated lesions and pediatric patients. Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has emerged as a potential alternative to open surgery. This study aims to evaluate the safety and efficacy of MRgLITT for pediatric cavernomas and review existing literature.</p><p><strong>Methods: </strong>A systematic search of MEDLINE (PubMed), Scopus, Embase, and Cochrane databases using terms related to \"LITT\" and \"cavernomas\" identified studies reporting MRgLITT outcomes in pediatric patients. Data on demographics, symptoms, lesion characteristics, and outcomes were extracted. A combined database included cases from literature and four treated at our institution, Santobono-Pausilipon Children's Hospital of Naples.</p><p><strong>Results: </strong>Three studies with eight pediatric cases and four additional institutional cases were analyzed, totaling 12 patients. Outcomes for epilepsy were favorable: two patients achieved Engel class IA, one class IC, and one class II. No recurrences or hemorrhages occurred. Two patients experienced permanent complications-one with partial right superior quadrantanopia and another with unilateral hearing loss.</p><p><strong>Conclusion: </strong>MRgLITT offers comparable outcomes to open surgery with reduced invasiveness, particularly for deep-seated lesions. Advances in thermal monitoring, neurophysiological monitoring, and functional MRI integration could further refine this approach, expanding its applications while minimizing complications in pediatric CMs.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"183"},"PeriodicalIF":1.3,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085998","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}
引用次数: 0
Acute ischemic stroke caused by compression of the artery of Percheron by arachnoid cyst. 蛛网膜囊肿压迫肾动脉致急性缺血性脑卒中。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-17 DOI: 10.1007/s00381-025-06841-1
Pietro Spennato, Carmela Palmiero, Daniele Cascone, Lucia De Martino, Giorgia Bruno, Giuseppe Cinalli
{"title":"Acute ischemic stroke caused by compression of the artery of Percheron by arachnoid cyst.","authors":"Pietro Spennato, Carmela Palmiero, Daniele Cascone, Lucia De Martino, Giorgia Bruno, Giuseppe Cinalli","doi":"10.1007/s00381-025-06841-1","DOIUrl":"https://doi.org/10.1007/s00381-025-06841-1","url":null,"abstract":"<p><p>Ischemic stroke is a rare presentation for intracranial mass lesions in children. It has been described in association with intrasellar tumours, especially with pituitary adenomas and less frequently with craniopharyngiomas. Vascular events have been exceptionally described in association with arachnoid cysts, with only three cases reported. We present here a unique case of a paediatric intraventricular arachnoid cyst that spread both intraventricularly (right trigone) and intracisternally (quadrigeminal plate) and presented as an acute ischemic stroke, secondary to compression of the artery of Percheron, an anatomic variant in which a single dominant thalamoperforating artery supplies variable portions of the upper midbrain and paramedian thalami on both sides. The patient presented with diplopia, left facial nerve palsy, ataxia, and paralysis of upward gaze. He was treated with urgent endoscopic fenestration and antiplatelet agents and made a full clinical recovery.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"185"},"PeriodicalIF":1.3,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085926","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}
引用次数: 0
Clinical manifestations, imaging characteristics, and surgical outcome of cervical spinal osteochondroma in pediatrics patients: a case base systematic review of an unusual tumor. 儿科患者颈椎骨软骨瘤的临床表现、影像学特征和手术结果:一个罕见肿瘤的病例系统回顾。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-17 DOI: 10.1007/s00381-025-06830-4
Ismael Moreno, Gianluca Scalia, Linn Chu, Gustavo Valderrama, Ashley Cole, Marcel Ivanov
{"title":"Clinical manifestations, imaging characteristics, and surgical outcome of cervical spinal osteochondroma in pediatrics patients: a case base systematic review of an unusual tumor.","authors":"Ismael Moreno, Gianluca Scalia, Linn Chu, Gustavo Valderrama, Ashley Cole, Marcel Ivanov","doi":"10.1007/s00381-025-06830-4","DOIUrl":"https://doi.org/10.1007/s00381-025-06830-4","url":null,"abstract":"<p><strong>Purpose: </strong>Pediatric spinal osteochondroma is a rare, benign tumor that can be challenging to diagnose and treat, particularly in the cervical spine. This study aimed to explore the imaging characteristics, clinical manifestations, and surgical techniques used for these tumors in pediatric patients by compiling all reported cases of cervical osteochondroma.</p><p><strong>Research question: </strong>Furthermore, it aims to analyze the outcomes of laminectomy with excised cervical osteochondroma in children, with an additional case report from the authors' experience.</p><p><strong>Methods: </strong>A systematic search was conducted across PubMed, Scopus, and Web of Science using specific keywords related to pediatric osteochondroma. Following PRISMA guidelines, titles and abstracts were screened, and a comprehensive full-text review was conducted for the remaining articles. The findings were organized into tables and analyzed using descriptive statistics, including means, standard deviations, and percentages with 95% confidence intervals.</p><p><strong>Results: </strong>We identified 201 articles, of which 38, reporting 43 cases, were included. Patients had a mean age of 12 years (SD ± 3.80 years) at presentation, with 55% being males. The majority presented with solitary osteochondroma (53%), predominantly located posteriorly (41 cases). The most common lesion level was C2 (13 cases). The most frequent clinical manifestation was pyramidal syndrome (60%). Laminectomy was the most commonly used surgical technique (67%). Post-surgery, 79% of patients showed full recovery, with hemilaminectomy associated with one case of recurrence.</p><p><strong>Conclusion: </strong>Laminectomy has emerged as the predominant treatment modality, demonstrating minimal complications and high success rates with low recurrence. However, personalized treatment plans are essential to address the anatomical and clinical variability of these tumors.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"182"},"PeriodicalIF":1.3,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085929","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}
引用次数: 0
Correction: Can the BIG score reliably predict outcomes in pediatric traumatic brain injury? 更正:BIG评分能可靠地预测儿童创伤性脑损伤的预后吗?
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-17 DOI: 10.1007/s00381-025-06838-w
Abdulrahman Özel, Servet Yüce, Esma Şengenç, Esra Nur İlbeği, İzzettin Kaya, Şevval Özyılmaz Gazneli, Meltem Erol
{"title":"Correction: Can the BIG score reliably predict outcomes in pediatric traumatic brain injury?","authors":"Abdulrahman Özel, Servet Yüce, Esma Şengenç, Esra Nur İlbeği, İzzettin Kaya, Şevval Özyılmaz Gazneli, Meltem Erol","doi":"10.1007/s00381-025-06838-w","DOIUrl":"https://doi.org/10.1007/s00381-025-06838-w","url":null,"abstract":"","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"184"},"PeriodicalIF":1.3,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085933","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}
引用次数: 0
Epidural seeding in medulloblastoma: A rare presentation of tumor seeding. 髓母细胞瘤的硬膜外播种:罕见的肿瘤播种。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-16 DOI: 10.1007/s00381-025-06849-7
Onur Erdogan, Melih Eröksüz, Yener Şahin, Buket Gedik, Mustafa Sakar, Adnan Dağçınar
{"title":"Epidural seeding in medulloblastoma: A rare presentation of tumor seeding.","authors":"Onur Erdogan, Melih Eröksüz, Yener Şahin, Buket Gedik, Mustafa Sakar, Adnan Dağçınar","doi":"10.1007/s00381-025-06849-7","DOIUrl":"https://doi.org/10.1007/s00381-025-06849-7","url":null,"abstract":"<p><p>Medulloblastoma is the most common malignant brain tumor in children, known for its high propensity to disseminate through the cerebrospinal fluid (CSF), particularly within the subarachnoid space. Leptomeningeal seeding, where tumor cells attach and proliferate within the leptomeninges, is a common manifestation. However, epidural seeding is an exceptionally rare occurrence, with very few cases documented in the literature. We present the case of an 8-year-old male diagnosed with anaplastic large cell medulloblastoma, who underwent complete tumor resection followed by radiotherapy and chemotherapy. Four years postoperatively, routine imaging revealed multiple thoracic spinal seedings and an epidural lesion at the S2-3 level. Surgical intervention confirmed the mass was confined to the epidural space, without intradural involvement, a notable finding given the rarity of this presentation. The mechanism behind epidural seeding remains unclear, though it was hypothesized that tumor cells may have been introduced during a lumbar puncture performed in the post-diagnosis period. This case contributes to the limited body of literature on epidural seeding in medulloblastoma, highlighting the importance of considering this rare phenomenon in long-term follow-up and surveillance of patients.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"181"},"PeriodicalIF":1.3,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076323","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}
引用次数: 0
Shaping futures: how surgical timing influences outcomes in endoscopic sagittal craniosynostosis repair. 塑造未来:手术时机如何影响内镜下矢状颅缝愈合修复的结果。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-15 DOI: 10.1007/s00381-025-06834-0
Gabrielle Price, Frederika Rentzeperis, Hannah Price, Peter Taub, Peter Morgenstern
{"title":"Shaping futures: how surgical timing influences outcomes in endoscopic sagittal craniosynostosis repair.","authors":"Gabrielle Price, Frederika Rentzeperis, Hannah Price, Peter Taub, Peter Morgenstern","doi":"10.1007/s00381-025-06834-0","DOIUrl":"https://doi.org/10.1007/s00381-025-06834-0","url":null,"abstract":"<p><strong>Background: </strong>Sagittal craniosynostosis, the most common nonsyndromic craniosynostosis, is primarily treated with surgical intervention to prevent developmental and cosmetic complications. Endoscopic surgical techniques offer a minimally invasive alternative with reduced blood loss, shorter operative times, and faster recovery. However, the influence of age at surgery on clinical outcomes remains unclear.</p><p><strong>Methods: </strong>A systematic review of 25 studies, encompassing 1606 patients, was conducted to evaluate the relationship between age at surgery and perioperative outcomes. Data extracted included patient demographics, operative times, blood loss, transfusion rates, length of hospital stay (LOS), and postoperative complications. Logistic regression models were utilized to assess the association between patient age and outcomes.</p><p><strong>Results: </strong>The mean age at surgery was 3.3 months (range = 1.6-5.6 months), with males comprising 73.3% of the cohort. Older age at surgery trended towards increased transfusion rates and LOS; however, these differences were not statistically significant. The pooled mean for estimated blood loss was 41.0 mL, and the mean operative time was 125.8 min. Complications were rare but included poor hemostasis, dural tears, and postoperative apneic episodes. No significant differences were observed in operative times or long-term outcomes based on age at surgery.</p><p><strong>Conclusions: </strong>While younger patients undergoing endoscopic sagittal craniosynostosis repair exhibited trends towards improved perioperative metrics, no statistically significant differences were noted. These findings suggest that endoscopic repair remains a viable option across a range of early ages. Further prospective studies are needed to refine guidelines for optimal surgical timing and improve reporting on long-term outcomes.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"180"},"PeriodicalIF":1.3,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076326","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}
引用次数: 0
A "Smurf-Cap" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida. 需要完全颅顶重塑的“蓝精灵帽”头。一种与脊柱裂相关的颅额鼻发育不良的新综合征表现。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-13 DOI: 10.1007/s00381-025-06846-w
Maria Fragale, Martina Giordano, Raul Della Valle, Gabriele Canzi, Giuseppe Talamonti
{"title":"A \"Smurf-Cap\" head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida.","authors":"Maria Fragale, Martina Giordano, Raul Della Valle, Gabriele Canzi, Giuseppe Talamonti","doi":"10.1007/s00381-025-06846-w","DOIUrl":"https://doi.org/10.1007/s00381-025-06846-w","url":null,"abstract":"<p><strong>Background: </strong>Craniofrontonasal dysplasia (CFND) is a rare X-linked disorder caused by mutations in the EFNB1 gene, typically characterized by hypertelorism, craniosynostosis, and facial asymmetry. Although other congenital anomalies have been reported, neural tube defects-particularly myelomeningocele (MMC)-have not previously been associated with CFND in humans.</p><p><strong>Case description: </strong>We present the case of a full-term female neonate with prenatally diagnosed MMC and Chiari II malformation. She also exhibited a unique constellation of craniofacial features, including a wide frontal bone defect with brain prolapse, right anterior plagiocephaly, hypertelorism, and brachycephaly, giving the head a \"smurf cap\" appearance. Additional anomalies included a left diaphragmatic hernia and thumb hexadactyly. Genetic testing confirmed CFND via an EFNB1mutation. Early postnatal interventions included MMC repair, ventriculoperitoneal shunting, and diaphragmatic hernia repair. At 11 months, total cranial vault remodeling was performed to address progressive cranial deformity and encephalocele. A staged surgical approach used both autologous and homologous bone grafts to repair the cranial defect. At age 5, fronto-orbital advancement was performed. Long-term follow-up at 12 years showed complete graft integration, normal cognitive development, and satisfactory craniofacial growth, with mild maxillary hypoplasia and residual hypertelorism.</p><p><strong>Conclusions: </strong>This case represents the first reported co-occurrence of CFND and MMC. The case also underscores the feasibility and long-term success of combined autologous and homologous bone grafting in extensive pediatric cranial vault reconstruction.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"179"},"PeriodicalIF":1.3,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143986211","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}
引用次数: 0
Fathoming the scientific paradox of intangibles: protocol reappraisal for optimizing cognitive outcomes in faciocraniosynostosis-an institutional experience. 深谙无形物质的科学悖论:优化颅缝愈合认知结果的方案重新评估-一种机构经验。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-13 DOI: 10.1007/s00381-025-06832-2
Suhas Udayakumaran, Shibani Nerurkar, Vinanthi P V, Arjun Krishnadas, Pramod Subash
{"title":"Fathoming the scientific paradox of intangibles: protocol reappraisal for optimizing cognitive outcomes in faciocraniosynostosis-an institutional experience.","authors":"Suhas Udayakumaran, Shibani Nerurkar, Vinanthi P V, Arjun Krishnadas, Pramod Subash","doi":"10.1007/s00381-025-06832-2","DOIUrl":"https://doi.org/10.1007/s00381-025-06832-2","url":null,"abstract":"<p><strong>Background: </strong>The critical nature of normal intracranial pressure (ICP) and proper airway function in early brain development, particularly in the first 5 years, are well established. These elements are compromised in faciocraniosynostoses and potentially affect neurological growth. The impact of variations in ICP and airway on cognitive development remains underappreciated and challenging to quantify.</p><p><strong>Objective: </strong>The primary aim of this study was to assess the efficacy and safety of a comprehensive early surgical intervention institutional protocol in children (0-5 years) with syndromic faciocraniosynostosis.</p><p><strong>Methods: </strong>We retrospectively analyzed our comprehensive surgical protocol in children who consecutively underwent cranial vault and midface procedures for syndromic craniosynostosis between July 2015 and January 2024, focusing on those who underwent both calvarial and midface surgeries before the age of 5 years.</p><p><strong>Surgical protocol: </strong>Our treatment algorithm prioritized posterior calvarial distraction (PCVD) as the initial intervention for children with faciocraniosynostoses. Frontal orbital advancement and remodeling (FOAR) is preferred to address aesthetic concerns and ICP in older children. Midface distraction was performed for clinically significant airway compromise.</p><p><strong>Results: </strong>The cohort included 31 children with a mean age of 18.8 months at the initial surgery. The primary procedures included PCVD (n = 16), robotic-assisted frontofacial advancement (RAFFA) (n = 5), robotic-assisted midface distraction (RAMD) (n = 6), and FOAR (n = 4). The second procedure (n = 25) included RAFFA (n = 5), RAMD (n = 13), and FOAR (n = 7). The third procedure (n = 11) included RAMD (n = 1), FOAR (n = 9), and repeat PCVD (n = 1). The mean age of the patients at the final surgery was 57.5 months.</p><p><strong>Conclusion: </strong>This comprehensive strategy addresses both cranial and midface issues and the challenge of optimizing cognitive development within the critical developmental window.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"178"},"PeriodicalIF":1.3,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980534","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}
引用次数: 0
Aqueductal glioma surgery via a telovelar approach using sodium fluorescein in a 6-year-old pediatric patient. 6岁儿童输水管胶质瘤患者经远端入路应用荧光素钠手术。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-11 DOI: 10.1007/s00381-025-06827-z
Sergio Cavalheiro, José Antonio Rangel Quiróz, Patricia Alessandra Dastoli, Isaque Hyung Tong Kim, Fernando Seiji Suzuki, Marcos Devanir Silva da Costa
{"title":"Aqueductal glioma surgery via a telovelar approach using sodium fluorescein in a 6-year-old pediatric patient.","authors":"Sergio Cavalheiro, José Antonio Rangel Quiróz, Patricia Alessandra Dastoli, Isaque Hyung Tong Kim, Fernando Seiji Suzuki, Marcos Devanir Silva da Costa","doi":"10.1007/s00381-025-06827-z","DOIUrl":"https://doi.org/10.1007/s00381-025-06827-z","url":null,"abstract":"<p><p>Periaqueductal gliomas are a subset of brainstem gliomas that typically present symptoms related to hydrocephalus due to obstruction of cerebrospinal fluid pathways. These tumors are generally low grade and have a favorable prognosis. Management often focuses on resolving hydrocephalus, with surgical intervention considered when symptoms or radiological images worsen. Sodium fluorescein is a fluorescent dye used in brain tumor surgeries to enhance visualization, allowing surgeons to distinguish between tumor tissue and normal brain tissue more effectively. This technique improves the precision and safety of tumor resection. We present the case of a 6-year-old patient in whom we performed the telovelar approach to resect periaqueductal gliomas via sodium fluorescein (2.5 mg/kg) for adequate resection, with excellent postoperative results. Ethics committee approval was not required to perform the surgical procedure on the patient. The patient's parents provided informed consent for the surgery and gave verbal consent for the publication of their video surgery.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"177"},"PeriodicalIF":1.3,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955225","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}
引用次数: 0
Severe cervical kyphosis in a complex child with NF1, case report and literature review. 复杂NF1患儿严重颈椎后凸1例,病例报告及文献复习。
IF 1.3 4区 医学
Child's Nervous System Pub Date : 2025-05-10 DOI: 10.1007/s00381-025-06831-3
Luigi Aurelio Nasto, Ferruccio De Prisco, Enrico Pola, Silverio Perrotta, Giuseppina Miele, Gianluca Piatelli, Claudia Santoro
{"title":"Severe cervical kyphosis in a complex child with NF1, case report and literature review.","authors":"Luigi Aurelio Nasto, Ferruccio De Prisco, Enrico Pola, Silverio Perrotta, Giuseppina Miele, Gianluca Piatelli, Claudia Santoro","doi":"10.1007/s00381-025-06831-3","DOIUrl":"https://doi.org/10.1007/s00381-025-06831-3","url":null,"abstract":"<p><strong>Purpose: </strong>We faced and herein report a detailed description of pre-operative assessment, management, and post-operative follow-up of a 2-year and 10-month-old girl with neurofibromatosis 1 (NF1) who presented with severe, dystrophic, cervical kyphosis (170 degrees) associated with extensive pre- and para-vertebral plexiform neurofibromas, who also went under MEK inhibitors therapy. Cervical kyphosis in NF1 is particularly rare, and there is no extensive literature available on the subject in terms of clinico-radiological features, surgical approach, and outcomes. We therefore also performed a comprehensive review of the available literature on the topic.</p><p><strong>Methods: </strong>The clinical report was made through the retrospective review of all medical documents and imaging of the patient. The systematic review was performed based on the inclusion and exclusion criteria set by the authors on surgical management of cervical kyphosis in NF1 patients according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).</p><p><strong>Results: </strong>Our patient underwent a first-stage halo-gravity traction followed by a single-stage occipito-cervical posterior fusion. The six-week traction resulted in a reduction of the deformity from 170 to 90°. A further amelioration was obtained by surgery with a final 60% correction of the curvature (69° at last post-operative X-ray). No complications were observed at 1-and-a-half-year follow-up. The plexiform neurofibromas were treated with MEK inhibitors: trametinib for 1 year and 11 months until performing halo traction, and with selumetinib after surgery. We just found 19 papers suitable according to our selection criteria.</p><p><strong>Conclusion: </strong>Combined anterior and posterior fusion (CAP) is generally the best treatment option, although it is not always feasible. When plexiform, symptomatic, inoperable neurofibromas coexist, surgery can be preceded or followed by MEK inhibitor treatment for better control or a volumetric reduction of the tumors. The best therapeutic choice should always be the result of a multidisciplinary, expert approach and patient-tailored design.</p>","PeriodicalId":9970,"journal":{"name":"Child's Nervous System","volume":"41 1","pages":"175"},"PeriodicalIF":1.3,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978852","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}
引用次数: 0
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