Child's Nervous System最新文献

Perivascular epithelioid cell tumors (PEComas) represent a rare and intriguing subset of neoplasms within the central nervous system (CNS). This report describes two unique cases that highlight distinct origins and clinical behaviors, offering valuable contributions to the limited body of knowledge regarding CNS PEComas. Despite their rarity, PEComas should be considered in the differential diagnosis of mesenchymal tumors that display an atypical combination of clinical, radiological, and histomolecular features, especially when melanocytic and/or myoid markers are present. Treatment with mTOR inhibitors can potentially stabilize the disease in a significant number of more aggressive PEComas, even those located in the CNS.

Background: Pediatric spinal epidural abscess is considered to be a rare illness. Despite all the recent improvements in the diagnosis and the treatment of this rare condition, the morbidity and mortality rate is still high especially if the diagnosis was not achieved early on.

Purpose: The purpose of this paper is to review the current literature on spinal epidural abscess (SEA) in the pediatric population, with a focus on understanding the clinical presentation, diagnosis, management strategies, and outcomes. This review aims to highlight the unique aspects of SEA and underscore the role of imaging, including intraoperative ultrasound, in guiding treatment.

Methods: A literature review was conducted to analyze the existing research on SEA in the pediatric population from the year 2000 to the present. Patients with tuberculosis and predisposing factors were excluded from the analysis.

Results: We found 42 cases of SEA in patients without significant predisposing factors. The most commonly reported symptoms were back pain, fever, and neurological deficits. Early surgical decompression coupled with targeted antibiotic therapy resulted in improved neurological outcomes and reduced morbidity.

Conclusion: Current literature reveals no clear consensus on the optimal management of (SEA). Each treatment modality presents distinct considerations. However, a trend favoring surgical management is apparent in the reviewed literature, likely due to the risk of disease progression associated with medical management alone. MRI remains the gold standard for diagnosis, but intraoperative ultrasound may offer added benefits during surgical management.

Purpose: To evaluate the efficacy and safety of DBS as a therapeutic intervention for managing motor symptoms and improving quality of life in patients with CP.

Methods: A systematic review was conducted following PRISMA guidelines. Studies were selected from PubMed, SCIELO, and the Regional Portal of BVS using defined inclusion criteria, assessing DBS outcomes on motor function, quality of life, and adverse events. The GRADE system evaluated the risk of bias.

Results: Of the 11 studies reviewed, 107 patients aged 5 to 26 years were included. Most studies focused on bilateral GPi stimulation, with nine reporting improvements in motor symptoms. However, outcomes varied, with significant benefits observed primarily in younger patients. Complications occurred in 22.4% of patients, predominantly infections and device-related issues.

Conclusion: This review showed that GPi DBS can improve motor symptoms and reduce disability in patients with CP, although outcomes are variable and influenced by patient characteristics, such as age. Further large-scale longitudinal studies are necessary to optimize candidate selection and enhance long-term outcomes.

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Purpose: 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.

Research question: Furthermore, it aims to analyze the outcomes of laminectomy with excised cervical osteochondroma in children, with an additional case report from the authors' experience.

Methods: 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.

Results: 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.

Conclusion: 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.

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.

Purpose: Patients with spina bifida (SB) are at risk for symptomatic tethered cord syndrome (TCS). Orthopedic decline, a common manifestation of TCS, is an indication for tethered cord release (TCR). Our objective is to determine if patients with SB who have undergone specific orthopedic operations (release of hip or knee contracture and correction of cavus foot) require TCR at a higher rate than those not undergoing these operations.

Methods: An institutional database was queried to identify all children with SB from 2009 to 2022. Data included functional level of lesion (FLOL), ambulatory status, and diagnosis of myelomeningocele (MMC) vs. closed neural tube defects. Survival analysis was performed to test the association between TCR and index orthopedic operations. Kaplan-Meier survival curves and multivariate Cox proportional hazard models were generated.

Results: There were 659 patients. Thirty-four (5.2%) had a history of orthopedic operation, and 625 (94.8%) had no history of orthopedic operation either before TCR or at last follow-up. Three of thirty-four (8.6%) in the orthopedic group underwent TCR after the orthopedic operation. Two hundred two of six hundred twenty-five (32.3%) in the non-orthopedic group underwent TCR. The adjusted hazard ratio (controlling for FLOL, ambulation, and diagnosis) was 3.8 (95% confidence interval 1.2-11). In MMC, the hazard ratio for the non-orthopedic group compared to the orthopedic group was 5.05 (95% confidence interval 1.2-20.7) which was significant.

Conclusion: Patients with MMC who underwent the specific orthopedic operations were significantly less likely to have subsequent TCR surgery. One possible explanation is that lower extremity deformity correction may alter surgeon behavior regarding TCR.

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.