Child's Nervous System最新文献

Purpose: Paediatric brain tumours represent the most common solid malignancies in children, with extent of resection being a critical prognostic factor. Fluorescence-guided surgery using 5-aminolevulinic acid (5-ALA) is well-established for adult high-grade gliomas, but its efficacy and safety in paediatric populations remain unclear. This systematic review evaluates the utility of 5-ALA fluorescence-guided surgery in paediatric brain tumours and explores alternative fluorophores.

Methods: A systematic review was conducted according to PRISMA guidelines, analysing studies from MEDLINE and EMBASE published up to October 2024. Data on patient demographics, tumour fluorescence patterns, surgical outcomes, and adverse effects were extracted. Statistical analyses assessed fluorescence differences across tumour types and administration parameters.

Results: Twenty-three studies, including 281 paediatric patients (mean age, 10 years), were analysed. The most common tumours included pilocytic astrocytomas (n = 45), medulloblastomas (n = 45), glioblastomas (n = 35), and ependymomas (n = 27). Strong fluorescence was observed more frequently in high-grade gliomas compared to low-grade gliomas (p < 0.00001), non-glioma tumours (p < 0.00001), and high-grade non-glioma tumours (p = 0.000485). Adverse effects were mostly transient; rare complications included transaminitis and dermatologic reactions.

Conclusion: 5-ALA fluorescence-guided surgery shows promise in the resection of high-grade gliomas in paediatric patients, improving intraoperative visualisation. However, limited fluorescence in low-grade and non-glioma tumours underscores the need for tumour-specific approaches. Emerging alternatives, such as fluorescein sodium and tozuleristide, offer potential advantages. Future research should focus on optimising 5-ALA dosing, refining timing protocols, and conducting robust prospective trials to establish efficacy and safety in paediatric populations.

Introduction: Midline structures in the central nervous system include the thalamus, brainstem, and spinal cord. Within the midline tumors, Diffuse midline gliomas (DMGs) and diffuse intrinsic pontine gliomas (DIPG) have a poor prognosis. DMGs are inclusive of all diffuse intrinsic pontine gliomas (DIPG), previously usually used for only pontine gliomas, to emphasize that these lesions are not solely centered in the pons/brainstem. In this retrospective review, we aim to report the frequency and outcomes of midline gliomas amongst all midline tumors in a tertiary care setup.

Methods: Data were collected retrospectively from the medical records at Aga Khan University Hospital between 2013 and 2023. All patients aged 18 and younger with tumors in midline locations were reviewed, and 102 patients were included. A few tumor samples were also sent to SickKids, Toronto, for molecular testing.

Results: Our cohort represents 102 patients with midline tumors, a median age of 11 years (interquartile range (IQR): 7.75-15 years), and a similar male-to-female ratio. Most patients presented with limb weakness and headache (median duration: 1.5 months, IQR: 1-4 months). The most common site of tumors was the brainstem, followed by the spine and thalamus. Sixty-six patients had surgery: 2 DIPGs, 15 low-grade gliomas, 13 ependymomas, 8 high-grade gliomas, 12 diffuse midline glioma, and 16 other tumors were identified. All of the patients diagnosed with DMG had H3K27 alteration on immunohistochemistry. Thirty-six patients were diagnosed via radiology: 33 DIPG and 3 tectal plate glioma. Only 10 patients received chemotherapy, and radiation therapy was given to 24 patients. Overall survival for all midline tumors was 53.9%, with 47 events.

Conclusion: Our study depicts poor survival outcomes at one year of patients diagnosed with DMG (16.7%) and DIPG (14.3%) amongst all midline tumors, regardless of radiation therapy or concurrent chemoradiotherapy. To improve the care and survival of all midline tumors, there is a dire need for affordable diagnostic techniques in specialized centers across low- and middle-income countries.

Objective: The development of novel targeted therapies is opening new perspectives in the treatment of pediatric brain tumors. Their precise role in therapeutic protocols still needs still to be defined. Thus, these novel pharmacological approaches in pediatric neurosurgery were the topic of the European Society for Pediatric Neurosurgery (ESPN) Consensus Conference held in Lyon (France) in January 25-27, 2024.

Method: The paper reviews the current knowledge about targeted therapy as well as the current literature published on the topic. The conference aimed for an interdisciplinary consensus debate among pediatric oncologists and pediatric neurosurgeons on the following questions. Question 1: What is the current role for targeted therapies as neoadjuvant treatments before pediatric brain tumor removal? Question 2: What are the benefits, cost/efficiency, and long-term side effects of targeted therapies in the treatment of pediatric brain tumors? Question 3: Based on contemporary data, at which stage and in which pathologies do targeted therapies play a significant role?

Results: Ninety-two participants answered consensus polls on the state of the art of targeted therapies, the ethical issues related to their use, and the evolving change in the role of pediatric neurosurgeons. The neoadjuvant role of targeted therapies is difficult to define as there are many different entities to consider. Despite the recently reported potential benefits, questions regarding the use of targeted therapies are manifold, in particular regarding sustainable benefits and long-term side effects. Additionally, challenging cost issues is a limiting factor for the broader availability of these drugs. Studies have demonstrated superiority of targeted therapy compared to chemotherapy both in randomized trials and compared to historical cohorts in the management of a subset of low-grade gliomas. The same drug combinations, BRAFi and MEKi, may be effective in HGG that have relapsed, progressed, or failed to respond to first-line therapy. Similar conclusions on efficacy may be drawn for mTORi in TSC and selumetinib in plexiform neurofibromas. For other tumors, the picture is still obscure due to the lack of data or even the lack of suitable targets. In conclusion, targeted treatment may not always be the best option even when a target has been identified. Safe surgery remains to be a favorable option in the majority of cases.

Conclusion: The constantly evolving drug technology and the absence of long-term safety and efficacy studies made it difficult to reach a consensus on the predefined questions. However, a report of the conference is summarizing the present debate and it might serve as a guideline for future perspectives and ongoing research.

Purpose: This study aimed to evaluate the prognostic value of the BIG score in predicting mortality and functional outcomes in pediatric patients with traumatic brain injury (TBI).

Methods: A retrospective analysis was conducted on pediatric TBI patients admitted to the Pediatric Intensive Care Unit (PICU) between 2020 and 2024 at a tertiary hospital. Functional outcomes at discharge were assessed using the Functional Status Scale (FSS). Receiver operating characteristic (ROC) analysis determined the predictive accuracy of the BIG score, Pediatric Trauma Score (PTS), Pediatric Glasgow Coma Scale (pGCS), and Pediatric Risk of Mortality III (PRISM III).

Results: A total of 103 patients were included. The mortality rate was 13.6% (n = 14), and 21.4% of survivors had functional impairment at discharge. In non-survivors, the BIG score, PTS, pGCS, and PRISM III were significantly elevated (all p < 0.001). The AUC for predicting mortality was 0.966 (BIG score), 0.911 (PRISM III), 0.909 (pGCS), and 0.827 (PTS). For functional impairment, the AUC values were 0.815 (BIG score), 0.812 (pGCS), 0.715 (PRISM III), and 0.645 (PTS). Correlation analysis showed a strong association between FSS scores and mechanical ventilation duration (r = 0.786, p < 0.001) and PICU length of stay (r = 0.706, p < 0.001).

Conclusion: The BIG score is a rapid, reliable predictor of mortality and functional outcomes in pediatric TBI patients, outperforming pGCS in patients with an initial pGCS of 3. Prospective studies are needed for further validation.

Introduction: Glial hamartomas are benign growths of glial cells, and their management is challenging due to their rarity and variable presentation. We present a case of a giant glial hamartoma in a pediatric patient, incidentally discovered during routine imaging for a planned tonsillectomy.

Case description: A 7-year-old boy with no prior neurological symptoms was found to have a large glial hamartoma in the right frontal lobe, measuring 67 mm in height and 50 mm in transverse diameter. Imaging studies revealed a hyperdense mass with internal calcifications on CT, hypointense on T1-weighted MRI, and hyperintense on T2-weighted MRI. Histopathology confirmed the diagnosis, showing benign glial cells, Rosenthal fibers, and eosinophilic granular bodies. A multidisciplinary team decided on surgical resection due to the tumor's size. The tumor was resected without complications, and postoperative recovery was uneventful. Follow-up MRIs at 4 months and 2 years post-surgery showed no residual tumor or recurrence.

Conclusions: This case underscores the role of radiological evaluation in identifying rare asymptomatic glial hamartomas and supports surgical resection to prevent complications. Comprehensive follow-up is essential for early detection of any recurrence.

Diencephalic-mesencephalic junction (DMJ) dysplasia is a rare congenital brain malformation characterized by a poorly defined junction between the diencephalon and mesencephalon, often associated with a butterfly-like contour of the midbrain on magnetic resonance imaging (MR). We report the case of a newborn female diagnosed prenatally with DMJ dysplasia who presented with severe ventriculomegaly, hydrocephalus, and oligohydramnios. Prenatal MRI at 32 weeks revealed a thickened interthalamic adhesion, an elongated midbrain with ventral cleft, aqueductal stenosis, and corpus callosum dysgenesis. Postnatal MRI confirmed these findings, along with the characteristic "butterfly" midbrain morphology. Genetic analysis revealed a pathogenic 11.9 Mb terminal deletion in the 6q25.3q27 region, encompassing candidate neurodevelopmental genes, such as DLL1, and a 3.8 Mb partial duplication in 22q13.31q13.33, of unknown significance. Parental genetic testing revealed a maternal balanced reciprocal translocation between chromosomes 6 and 22 (asymptomatic carrier), which was inherited in an unbalanced form by the proband. A ventriculoperitoneal shunt was placed within the first 48 h of life to manage hydrocephalus, with subsequent adjustments and revisions as needed. This case highlights the importance of advanced prenatal imaging and genetic testing in the diagnosis of complex brain malformations as well as the need for multidisciplinary management of rare congenital anomalies. Further research is essential to elucidate the underlying genetic mechanisms and improve the outcomes in patients with DMJ dysplasia.

We report an unusual case of a 9-year-old boy with Hodgkin lymphoma post chemoradiotherapy, who later developed Ewing sarcoma involving the eighth rib, which had metastasised to the cranial vault with meningeal and subdural involvement. Presenting with seizures, headache and hemiparesis, he underwent craniotomy and gross total tumour resection, with histopathology confirming metastatic Ewing sarcoma. Despite initial improvement, the patient presented with further cranial metastasis on follow-up. This case contributes to the limited literature on Ewing sarcoma metastasis to the CNS in patients with prior hematologic malignancies, questioning potential links between therapeutic chemoradiotherapy exposures and secondary cancer development. This case emphasises the unusual metachronous presentation of Hodgkin lymphoma and Ewing sarcoma and the high risk of recurrence and CNS involvement in cranial Ewing sarcoma, highlighting challenges in management and prognosis.

Purpose: Ethiopia has a high prevalence of myelomeningocele (open spina bifida), a severe and often fatal birth defect affecting the spinal cord in the newborn. Timely surgery is associated with improved health outcomes and survival among those affected. Recent studies on timeliness of myelomeningocele closure surgery and factors associated with it are lacking in Ethiopia.

Methods: We conducted an observational study using data from structured electronic medical records stored at the largest surgical and treatment referral hospital for spina bifida care in Ethiopia. We used surgical information on patients with myelomeningocele from January 2020 to June 2022. Surgical timeliness was dichotomized as "timely" if the repair occurred within 3 days after birth and "delayed" after the 3rd day of birth. Prevalence of timely spina bifida surgery was assessed. Selected demographic and clinical factors associated with timeliness of the repair surgery were examined using logistic regression analysis.

Results: Of the 279 eligible patients who received myelomeningocele closure surgery during the study period, only 45 (16.1%) were timely. Family residence in Addis Ababa was significantly associated with a timely repair surgery (delayed surgery aOR = 0.25; 95% CI = 0.11, 0.57), after adjusting for the year of surgery, infant sex, presence of cerebrospinal fluid leak, and spina bifida lesion level.

Conclusion: Less than a quarter of patients with myelomeningocele received timely repair surgery in a large tertiary care referral hospital in Addis Ababa, Ethiopia. Promoting timely closure of myelomeningocele while providing equitable access to optimal surgical care for patients will improve health outcomes and prevent mortality.

Introduction: Supratentorial ependymomas are rare tumors, particularly in adults, and can present similarly to more common extra-axial masses like meningiomas on imaging. Differentiating between these lesions is crucial for appropriate management.

Case presentation: A 16-year-old girl presented with a 1.5-year history of headaches, occasional blurring of vision, and a recent seizure. MRI revealed a 4.7 × 4.0 × 6.9 cm dural-based, extra-axial lesion in the left parietal-temporal region, initially presumed to be a meningioma. The patient underwent a neuronavigation-guided craniotomy with excision of the lesion. Intraoperative findings described a soft, vascular, solid-cystic extra-axial mass, which was initially diagnosed as a meningioma based on preoperative imaging but later confirmed to be a supratentorial ependymoma, ZFTA fusion-positive, CNS WHO grade 3, through histopathological and molecular analysis. Postoperatively, the patient showed no neurological deficits, and a residual tumor was identified on follow-up imaging.

Discussion: This case illustrates the diagnostic challenge posed by the rare presentation of supratentorial, extra-axial ependymomas mimicking meningiomas. Although meningiomas are the most common extra-axial intracranial tumors, some radiological features such as cystic appearance and multiloculation on imaging should raise suspicion for ependymoma or other mimics. However, a definitive diagnosis can only be made through histopathological examination.

Conclusion: Supratentorial, extra-axial masses are often misdiagnosed as meningiomas. Such ependymomas can closely resemble meningiomas on imaging. This case underscores the importance of maintaining a broad differential diagnosis for extra-axial masses and highlights the role of certain radiological features that can help with accurate diagnosis or at least raise suspicion of meningioma mimics.