Pediatric Neurosurgery最新文献

Background: Middle meningeal artery (MMA) embolization has been increasingly applied in adult populations for the treatment of chronic subdural hematomas (cSDH). There is a paucity of literature on the indications, safety, and outcomes of MMA embolization in the pediatric population.

Summary: A systematic literature review on pediatric patients undergoing MMA embolization was performed. We also report the case of successful bilateral MMA embolization for persistent subdural hematomas following resection of a juvenile pilocytic astrocytoma. Persistent bilateral subdural hematomas following resection of a large brain tumor resolved following MMA embolization in a 13-year-old male. Indications for MMA embolization in the pediatric literature included cSDH (6/13, 46.2%), treatment or preoperative embolization of arteriovenous fistula or arteriovenous malformation (3/13, 23.1%), preoperative embolization for tumor resection (1/13, 7.7%), or treatment of acute epidural hematoma (1/13, 7.7%). Embolic agents included microspheres or microparticles (2/13, 15.4%), Onyx (3/13, 23.1%), NBCA (3/13, 23.1%), or coils (4/13, 30.8%).

Key messages: Whereas MMA embolization has primarily been applied in the adult population for subdural hematoma in the setting of cardiac disease and anticoagulant use, we present a novel application of MMA embolization in the management of persistent subdural hematoma following resection of a large space-occupying lesion. A systematic review of MMA embolization in pediatric patients currently shows efficacy; a multi-institutional study is warranted to further refine indications, timing, and safety of the procedure.

Introduction: Pineal region tumors have historically been challenging to treat. Advances in surgical techniques have led to significant changes in care and outcomes for these patients, and this is well demonstrated by our single institution's experience over a 17-year-period in which the evolution of diagnosis, treatment, and outcomes of pineal tumors in pediatric patients will be outlined.

Methods: We retrospectively collected data on all pediatric patients with pineal region lesions treated with surgery at Children's National Hospital (CNH) from 2005 to 2021. Variables analyzed included presenting symptoms, presence of hydrocephalus, diagnostic and surgical approach, pathology, and adverse events, among others. IRB approval was obtained (IRB: STUDY00000009), and consent was waived due to minimal risk to patients included.

Results: A total of 43 pediatric patients with pineal region tumors were treated during a 17-year period. Most tumors in our series were germinomas (n = 13, 29.5%) followed by pineoblastomas (n = 10, 22.7%). Twenty seven of the 43 patients (62.8%) in our series received a biopsy to establish diagnosis, and 44.4% went on to have surgery for resection. The most common open approach was posterior interhemispheric (PIH, transcallosal) - used for 59.3% of the patients. Gross total resection was achieved in 50%; recurrence occurred in 20.9% and mortality in 11% over a median follow-up of 47 months. Endoscopic third ventriculostomy (ETV) was employed to treat hydrocephalus in 26 of the 38 patients (68.4%) and was significantly more likely to be performed from 2011 to 2021. Most (73%) of the patients who received an ETV also underwent a concurrent endoscopic biopsy. No difference was found in recurrence rate or mortality in patients who underwent resection compared to those who did not, but complications were more frequent with resection. There was disagreement between frozen and final pathology in 18.4% of biopsies.

Conclusion: This series describes the evolution of surgical approaches and outcomes over a 17-year-period at a single institution. Complication rates were higher with open resection, reinforcing the safety of pursuing endoscopic biopsy as an initial approach. The most significant changes occurred in the preferential use of ETVs over ventriculoperitoneal shunts. Though there has been a significant evolution in our understanding of and treatment for these tumors, in our series, the outcomes for these patients have not significantly changed over that time.

Introduction: Cerebral venous sinus thrombosis (CVST) is a rare but serious condition in both adults and children. Risk factors include thrombophilias, dehydration, and certain inherited conditions like sickle cell trait (SCT). We present a case of CVST in a pediatric patient with SCT to highlight key considerations in diagnosis and management.

Case presentation: A 14-year-old male with SCT presented with worsening headache and vomiting after prolonged sun exposure and dehydration during athletic camp. Imaging revealed right occipital hemorrhage, hydrocephalus, right CSVT, and bilateral cerebellar developmental venous anomalies. Hypercoagulability testing was normal. Diagnostic evaluation included computed tomography, magnetic resonance imaging, MR venography (MRV), and hypercoagulability testing. The patient was treated with an external ventricular drain, platelet transfusion, and anticoagulation. Management also involved hydration, platelet transfusion, supportive care, and multidisciplinary follow-up. Follow-up MRV showed recanalization.

Conclusion: This case highlights SCT as a potential CVST risk factor. Timely recognition, evaluation of precipitants like dehydration, supportive care including anticoagulation, and multidisciplinary management are important. An individualized approach is needed to balance thrombosis recurrence and bleeding risks. Patients with SCT require education on risks and prompt evaluation of neurological symptoms to allow early diagnosis and care of CVST.

Introduction: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role of neurosurgery in the comprehensive management of RTS patients.

Methods: A retrospective review of patients with genetically confirmed RTS presenting between 2010 and 2023 at Children's Hospital of Pittsburgh was performed. Patient demographics, genetic profile, clinical symptoms, radiographic characteristics, and neurosurgical management were recorded for all patients.

Results: Twenty-one patients (13 females, 8 males) aged 0 to 22 years presented for formal genetic counseling and diagnosis. Twenty patients (95%) had CREBBP pathogenic variants (RTS type 1), and 1 patient (5%) had EP300 pathogenic variants (RTS type 2). Ten patients (48%) had a low-lying conus medullaris, and 3 patients (30%) underwent subsequent spinal cord detethering. Four patients (19%) had a Chiari malformation, and three (75%) underwent Chiari decompression surgeries. One patient (5%) had Chiari-associated syringomyelia.

Conclusions: RTS patients have an increased rate of tethered cord syndrome requiring detethering. The incidence of symptomatic Chiari I malformation requiring decompression has not been previously reported. The RTS series presented here demonstrates a high incidence of symptomatic Chiari I malformation in addition to tethered cord syndrome.

Introduction: Infant-type hemispheric glioma (IHG) is a rare form of cancer that affects newborns and infants. It is classified as a pediatric-type high-grade glioma and typically harbors receptor tyrosine kinase (RTK) gene fusions. Here, we present the finding of a novel gene fusion IHG treated with a targeted therapy that has yet to be implemented for any other IHG case to date.

Case presentation: We report the case of a 12-month-old boy with IHG who presented with obstructive hydrocephalus due to a large mass in the right frontal lobe. The patient initially underwent mass resection, but subsequent imaging showed rapid interval progression of the residual tumor. Comprehensive molecular analysis of the tumor tissue revealed a novel GAB1-ABL2 gene fusion, and the patient was started on dasatinib, an ABL kinase inhibitor. Shortly after initiation of dasatinib treatment, there was a significant reduction in tumor size and enhancement, followed by stabilization of disease.

Discussion: The patient's robust response to treatment suggests that dasatinib is an effective targeted therapy for IHG harboring a GAB1-ABL2 gene fusion. This finding may inform future investigations into the disease processes of IHG and help guide the diagnosis and treatment of IHG in the absence of previously identified gene fusions, improving clinical management of this vulnerable patient population.

Introduction: Paediatric rhabdoid meningioma (RM) is the rarest but most aggressive subtype of meningioma, related to a severe prognosis. They account for 1-3% of all intracranial meningiomas.

Case presentations: We report an institutional experience of 3 cases through which we discuss clinical, histological, and therapeutic features of this tumour. Two of our patients were female-gendered (3 years old and 1 year and 6 months old), and one was male-gendered (16 years old). Revealing symptoms were related to intracranial hypertension, cerebellar syndrome, cranial nerve palsy, and skull tumefaction. Imaging showed extra-axial tumour located in the right ponto-cerebellar angle in the first case, in the left occipital region in the second case, left parietal tumour in the third case. All patients underwent a surgical intervention with a gross total resection. Histological evaluation supported by immunohistochemistry confirmed the diagnosis of RM. Tumour recurrence was observed at 45 days in the first case with a fatal outcome. Despite adjuvant radiotherapy, both second and third cases had local recurrence after a mean follow-up of 1 month following the radiotherapy.

Conclusions: RM is very aggressive tumours. Standardized therapeutic guidelines are still under debate as actual approaches are still inefficient to prevent quick recurrence and fatal outcome.

Introduction: The association between trigonocephaly and Sylvian fissure arachnoid cysts (ACs) has been occasionally reported in the literature. However, the real incidence of this association and its clinical relevance remain unknown.

Methods: The authors collected and retrospectively reviewed all clinical charts and CT scans of patients surgically treated for trigonocephaly at the Pediatric Neurosurgical Department of Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS from January 2014 to June 2023.

Results: During the study period, 136 patients with trigonocephaly underwent surgery. Analysis of the clinical charts revealed that in 39.7% of the cases (54/136), preoperative CT scan depicted the presence of a Sylvian fissure AC. Of these, AC was bilateral in 23 cases and unilateral in the remaining 31. All unilateral ACs were on the left side. The ACs were classified as Galassi grade I in 52 cases (96.3%) and Galassi grade II in 2 cases (3.7%). Interestingly, in 1 case we reported a Galassi grade I AC enlargement during follow-up, thereby necessitating surgical fenestration.

Conclusion: ACs and trigonocephaly are well-known conditions for pediatric neurosurgeons; however, their association is poorly defined. Despite the lack of reports on the incidence and clinical significance of this association, it is worth knowing that radiological follow-up is essential in monitoring AC evolution.