Child's Nervous System最新文献

Congenital infantile brainstem high-grade gliomas (HGGs) are extremely rare. Given the limited literature characterizing this disease, management of these tumors remains challenging. Brainstem HGGs are generally associated with extremely poor prognosis. Limited reports of spontaneous regression of radiologically diagnosed infantile brainstem tumors exist in published literature. In this case report, we document the first histologically proven congenital brainstem HGG with molecular characteristics that did not fall under any previously well-defined pediatric brain tumor classifications. The tumor underwent regression after biopsy, documented on neuroimaging up to 2 years of age. A review of the literature was also performed to identify previously reported infantile brainstem HGGs and the management for such tumors. Our case highlights the value of performing histopathological confirmation to guide management and the possible existence of a subcategory of a congenital brainstem HGG with better prognosis.

Background: Atypical teratoid/rhabdoid tumours (ATRTs) are malignant central nervous system tumours, typically presenting in the posterior fossa of very young children. Prognosis remains poor despite current therapy, while tumorigenesis implicates both genomic and epigenetic dysregulation. Primary diffuse leptomeningeal (PDL) ATRT, characterised by the absence of an intraparenchymal mass lesion, is seldom reported but appears associated with a dismal outcome.

Case presentation: We describe a 7-year-old male presenting with a PDL MYC-subgroup ATRT. The patient received multimodal upfront therapy, including high-dose craniospinal radiotherapy, embedded within a chemotherapy backbone. An unexpected clinical and radiological improvement was also observed upon cessation of all therapy for presumed disease progression. Although the patient eventually succumbed to the disease at 30 months, he demonstrated the longest survival for any PDL ATRT patient reported (median 8 months).

Conclusion: Exhaustive literature review identified seven preceding published cases of PDL ATRT. Ours is the only one to have molecular subgrouping assigned. Perfusion imaging, within a multi-parametric diagnostic package, may be a sensitive marker for malignancy against other aetiologies in challenging presentations. Acknowledging the scarcity of the entity, we cautiously suggest a combination of chemotherapy and upfront high-dose craniospinal radiotherapy, if appropriate, may prolong survival for older children with PDL ATRT compared to exclusive chemotherapy or focal irradiation-based strategies. Our patient's recovery during palliation following a radiological diagnosis of disseminated relapse highlights the importance of confirming disease recurrence by tissue extraction where feasible.

Purpose: We hypothesize that distal shunt catheters fully impregnated with barium are more prone to failure compared to distal catheters with only a barium stripe. We sought to evaluate this distinction using a matched case-control study.

Methods: Patient records over an 8-year period were queried for distal shunt revisions for fracture or disconnection (cases). A control group of patients with confirmed functioning distal catheters was queried from the same period and matched based on patient age at exploration/revision. Data were collected via chart review, including demographics, hydrocephalus etiology, distal catheter type, and patient age at revision. Independent T-test, chi-squared, and binomial logistic regression analyses were performed.

Results: There were 194 patients included in the study: 97 patients with distal shunt revision and 97 controls with a functional distal shunt system. The mean patient age at distal catheter revision was 12.87 ± 4.59 years, and the mean patient age of the control group was 12.81 ± 4.59 years. The most common etiology was premature intraventricular hemorrhage (32%). Of the distal failures, 41.2% had fully impregnated barium catheters, while 58.8% had striped barium catheters. Of the control group, 76/97 (78%) patients had barium-striped distal shunt catheters and 21/97 (22%) had fully impregnated catheters. Logistic regression analysis showed that fully impregnated catheters were more likely than striped barium to fail, p = 0.004 (OR = 2.54, 95% CI 1.35-4.77).

Conclusion: In a matched case-control format, odds of failure of fully impregnated distal catheters were 2.54 greater than striped barium catheters.

Introduction: Glioblastomas (GBM) are aggressive tumors that make up about 7% of central nervous system tumors in children. Spinal GBMs (sGBMs) are extremely rare, accounting for less than 1% of pediatric spinal tumors. sGBMs are difficult to treat due to their infiltrative nature and cause significant morbidity. While there is extensive literature on treatment outcomes for cranial GBMs, there is limited research on pediatric sGBMs. This meta-analysis aims to assess the impact of available treatments on overall survival (OS) and progression-free survival (PFS) in pediatric sGBM patients and to identify prognostic factors.

Methodology: A comprehensive review of pediatric sGBM cases up to June 2024 was conducted using PubMed and Mendeley. Inclusion criteria were case series and case reports of pediatric sGBM, excluding those with metastatic sGBM or aggregated patient data. A total of 2202 articles were identified, with 46 meeting the inclusion criteria. Data on demographics, tumor characteristics, extent of resection, and treatments were collected. Kaplan-Meier and Cox proportional hazards models were used for statistical analysis.

Results: The data was collected from 81 patients, 43 females and 38 males, with an average age of 10.7 years. The majority of tumors were found in the cervical region (32%). Subtotal resection (STR) was performed in 53% of cases, and 59% of patients received both chemotherapy (QT) and radiotherapy (RT). The average progression-free survival (PFS) was 10.95 months, with RT significantly improving PFS (15.2 months vs. 2.1 months, p = 0.001). The average OS was 13.4 months, with RT and QT being significant protective factors (p < 0.05). Age over seven years and cervical tumor location were associated with worse OS.

Conclusion: This study highlights the significance of radiation therapy and chemotherapy in enhancing overall survival and progression-free survival in pediatric patients with spinal cord glioblastoma. Specifically, RT significantly improves PFS, while advanced age and tumor location in the cervical region are associated with worse outcomes. These findings can help shape treatment approaches and ultimately enhance the quality of life for pediatric sGBM patients.

Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.

Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III. These seven cases were included in the study, and their medical records were reviewed retrospectively to assess clinical, radiological, surgical, and postoperative follow-up data.

Results: Seven newborns with giant occipital encephalocele and Chiari malformation type III were treated at our institution, including five females and two males. All cases were diagnosed prenatally via ultrasound, and none of the mothers had taken folic acid regularly. Six infants underwent surgical resection with duroplasty within 48 h, achieving good outcomes. The seventh infant, with respiratory difficulties, hypotonia, and large ventricular septal defect(VSD), was unfit for surgery and passed away at two weeks. Long-term follow-up up to 24 months showed all surviving infants met developmental milestones, though mild delays in walking, speech, and unsteady gait were noted.

Conclusion: Giant encephalocele with Chiari malformation is a rare condition that requires a multidisciplinary approach for effective management. Unlike smaller encephaloceles, giant ones may have a better prognosis due to the large volume of cerebrospinal fluid (CSF) in the herniated sac, which helps prevent further neural tissue herniation. Prenatal diagnosis is essential, and folic acid supplementation should be encouraged. Early surgical intervention is crucial for optimal outcomes.

Background: Central nervous system tumors (CNSTs) represent a significant oncological challenge in pediatric populations, particularly in developing regions where access to diagnostic and therapeutic resources is limited.

Methods: This research investigates the epidemiology, histological classifications, and survival outcomes of CNST in a cohort of pediatric patients aged 0 to 19 years within a 25-year retrospective study at the Civil Hospital of Guadalajara, Mexico, from 1999 to 2024.

Results: Data was analyzed from 273 patients who met inclusion criteria, revealing a higher incidence in males (51.6%) with a mean age at diagnosis of 8.2 years. Histological analysis revealed gliomas as the most common type (52.7%), followed by embryonal tumors (28.6%). High-grade tumors (WHO grade 4) comprised 49.8% of cases, demonstrating significantly poorer survival outcomes (median overall survival of 13.5 months) compared to lower-grade tumors (up to 57 months). The predominance of tumors in the supratentorial region and the notable differences in survival outcomes by tumor type underscore the varied impact of geographical and socioeconomic factors on pediatric oncology in Mexico.

Conclusion: This study highlights the critical need for improved healthcare infrastructure and early diagnosis initiatives, as well as the importance of targeted research to address disparities in treatment and outcomes for pediatric CNST in this region.

Purpose: The background of this scoping review is that pediatric neurosurgery in the vicinity of motor pathways is associated with the risk of motor tract damage. By measuring transcranial electrical evoked potentials in muscles (electromyogram) or from the spinal cord (epidural D-wave) functional disorders and impending damage can be detected during surgery and countermeasures can be initiated. The objective was to summarize stimulation techniques of transcranial electrical stimulation and the success rate of motor evoked potentials exclusively in children undergoing neurosurgery.

Methods: The data source was a literature search for reports meeting the suitability criteria (original articles and case series including motor evoked potentials and pediatric neurosurgery).

Results: Twenty-four articles meeting suitability criteria were retrieved. The most common primary electrode positions for electrical stimulation were at C3 vs. C4 and C1 vs. C2 according to the 10-20-system of EEG. Single trains of 1 to 9 pulses with voltages from 160 to 900 V and pulse durations from 50 to 500 µs were applied for voltage-controlled stimulation. Interstimulus intervals ranged from 0.1 to 9.9 ms. Signals were filtered with high-pass filters between 1.5 and 300 Hz and low-pass filters between 500 and 5000 Hz. The overall rate of successful stimulation and measurement was 90.5% (N = 769).

Conclusion: A broad range of stimulation parameters was used for transcranial electrical evoked potentials. Measurable potentials were obtained in most patients. Consideration of safety precautions is an important implication to avoid adverse events by application of high voltage to the motor cortex.

Introduction: Diffuse intrinsic pontine gliomas are associated with dismal survival outcomes. Conventional fractionation radiation to a dose of 60 Gy is the standard of treatment. This retrospective review aims to compare survival and toxicity outcomes of patients treated with conventional fractionation (CF) and hypofractionation (HF) radiotherapy.

Materials and methods: Treatment-naïve diffuse intrinsic pontine glioma patients undergoing radical radiation were analyzed. CF was delivered to a dose of 50-60 Gy in 25-30 fractions, while HF was delivered as 38-40 Gy in 12-15 fractions. All patients were planned via the volumetric modulated arc therapy (VMAT) technique.

Results: A total of 64 patients were eligible for analysis. The median age of presentation was 10 years. Motor deficit was the most common presenting complaint in 51.6% of the patients, with a median symptom duration of 2 months. The pons was the most frequent site of disease epicenter in 71.8% of the patients. After a median follow-up of 9.45 months (range 0.23-72.63 months), 23 patients died, and 28 patients experienced disease progression. The unadjusted hazard ratio (HR) for death in patients treated with HF as compared to CF was 1.330 (95% CI 0.522-3.386) (p-value 0.550, by Cox regression analysis). The median OS for the entire cohort was 13.9 months, while it was 9.7 months (95% CI 5.65-13.74) and 15.1 months (95% CI 9.02-21.18) (p-value = 0.547) with CF and HF, respectively. On multivariate analysis, disease epicenter in the pons was the only significant factor associated with PFS. Hypofractionation was associated with a significantly higher aspiration rate and Ryle's tube requirement (p-value 0.027).

Conclusion: Hypofractionated radiation can be considered for diffuse intrinsic pontine glioma with optimum supportive care.

Purpose: In this study, we aimed to define the scope of paediatric epilepsy surgery performed in Asia and Australasia.

Methods: Representative surgeons from each county were emailed a survey about paediatric epilepsy surgery as it is practiced in their country. The survey covered topics including what investigations, operations and number of surgeries are performed and by whom (adult or paediatric neurosurgeons).

Results: Epilepsy surgery programmes are for the most part more common in larger countries and countries with a higher gross domestic product (GDP). Countries performing epilepsy surgery commonly have access to the full range of investigations except magneto-encephalography (MEG). Intraoperative electrocorticography (ECOG) and stereotaxy are typically available and most have access to extra-operative monitoring. There is limited availability of laser interstitial therapy (LIT) and responsive neuro-stimulation (RNS). China performs approximately 4000 paediatric epilepsy cases per year which is more than all of the other countries combined. Epilepsy surgery case numbers range from 0.2 to 22/ million population per year, and there is a correlation between the number of cases performed and the countries' GDP. A large number of children have no access to epilepsy surgery.

Conclusion: There is a wide variation in access to epilepsy surgery in Asia and Australasia. Some counties have surgical numbers comparable with high volume Western countries, while hundreds of millions of children have no access to surgery at all.