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The article discusses two cases of pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome. The tumors were found in an 11-year-old girl and a 7-year-old boy, both presenting with supratentorial solid and cystic masses. The tumors exhibited intense contrast enhancement, intermediate diffusion restriction, and high mitotic indexes, with genetic analyses revealing mutations in RB1, SETD2, and TP53 genes. These cases demonstrate atypical features compared to classic forms of pediatric high-grade gliomas and suggest potential novel groups of gliomas within this context. [Extracted from the article]

Background: The literature lacks a combined analysis of neurosurgical microvascular anastomosis training models. We performed a systematic literature search to provide an overview of the existing models and proposed a classification system based on the level of simulation and reproducibility of the microvascular anastomosis. Methods: The systematic literature search followed the PRISMA guidelines. We consulted MEDLINE, Web of Knowledge, and EMBASE independently for papers about bypass training models. Every training model was analyzed according to six tasks supposed to esteem their fidelity to the real operative setting by using a scoring system from zero to two. Finally, authors classified the models into five classes, from A to E, by summing the individual scores. Results: This study included 109 papers for analysis. Training models were grouped into synthetic tubes, ex vivo models (animal vessels, fresh human cadavers, human placentas) and in vivo simulators (live animals—rats, rabbits, pigs). By applying the proposed classification system, live animals and placentas obtained the highest scores, falling into class A (excellent simulators). Human cadavers and animal vessels (ex vivo) were categorized in class B (good simulators), followed by synthetic tubes (class C, reasonable simulators). Conclusions: The proposed classification system helps the neurosurgeon to analyze the available training models for microvascular anastomosis critically, and to choose the most appropriate one according to the skills they need to improve [ABSTRACT FROM AUTHOR]

Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume. The authors report a series of 6 patients with ALGS with craniosynostosis and discuss their neurosurgical management., Methods: The authors included all patients with ALGS and craniosynostosis assessed in their national reference center between 2012 and 2024. They collected the following parameters: date of birth; sex; JAG1 mutation; hepatobiliary, cardiac, vascular, skeletal and ocular symptoms; type of craniosynostosis; presence of papilledema; head circumference; type of surgery (if needed); and clinical outcome., Results: The 6 patients had a median age of 6 years at referral (range 15 months-6 years). Four patients presented with a history of ICH and papilledema. Craniofacial CT scans showed the fusion of all sutures (coronal, sagittal, and lambdoid) in 2 patients; bicoronal plus bilambdoid synostosis in 1 patient; and sagittal plus bilambdoid synostosis 1 patient. All patients required biparietal floating craniotomies, leading to prompt improvement of papilledema. Two patients without a history of ICH presented with single-suture synostosis without papilledema (anterior plagiocephaly and scaphocephaly)., Conclusions: The authors report single-suture and multisuture craniosynostosis associated with ALGS and its association with chronic ICH. They suggest systematic screening for craniosynostosis in patients with ALGS and papilledema to avoid unrecognized chronic ICH.

Aims: FGFR-fused central nervous system (CNS) tumours are rare and are usually within the glioneuronal and neuronal tumours or the paediatric-type diffuse low-grade glioma spectrum. Among this spectrum, FGFR2 fusion has been documented in tumours classified by DNA-methylation profiling as polymorphous low-grade neuroepithelial tumours of the young (PLNTY), a recently described tumour type. However, FGFR2 fusions have also been reported in glioneuronal tumours, highlighting the overlapping diagnostic criteria and challenges., Methods: We investigated the FGFR2 fusion landscape in a French national series of tumours sent to the RENOCLIP-LOC network. We comprehensively analysed histology, radiology and molecular data including DNA-methylation profiling for 16 FGFR2-fused glioneuronal tumours., Results: Most tumours were located in the temporal or parietal lobe with a median age at diagnosis of 7 years [1-44]. Epilepsy was the most frequent symptom. Five patients had tumour progression or recurrence with a median progression-free survival of 22.6 months. Histological phenotypes corresponding to PLNTY, GG, MVNT or unclassified tumours were recorded. Epigenetic profiling could not properly distinguish epigenetic clusters related to the GG and PLNTY methylation classes among FGFR2-fused glioneuronal tumours. However, a neuroradiological review identified strikingly distinct neuroradiological patterns., Conclusion: While delineating tumour types among the FGFR2-fused glioneuronal tumour spectrum, by histopathology or DNA-methylation profiling, remains challenging, neuroimaging data revealed two distinct patterns that could correlate to PLNTY and ganglioglioma. However, more series including extensive histo-radio-molecular data are needed to confirm this hypothesis., (© 2024 The Author(s). Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.)

Background and Objectives: When seizure onset affects a whole hemisphere, hemispheric disconnections are efficient and safe procedures. However, both lateral peri-insular hemispherotomy and vertical paramedian hemispherotomy approaches report a failure rate around 20%, which can be explained by residual connections giving rise to persistent seizures. In this study, we present the interhemispheric vertical hemispherotomy (IVH), a technical variation of the vertical paramedian hemispherotomy approach, that aims to increase seizure control avoiding residual connections while exposing the corpus callosum., Methods: This is a retrospective study of IVH in two centers, with analysis of clinical and MRI data and outcomes. A detailed description of the technique is provided with a video., Results: IVH was performed in 39 children. The mean age at surgery was 7.2 years, and etiologies were as follows: malformations of cortical development (n = 14), Rasmussen's encephalitis (n = 10), stroke (n = 10), post-traumatic (3), and Sturge-Weber Syndrome (2). Hemispheric disconnection was complete on postoperative MRI in 34 cases. There was no mortality, hydrocephalus occurred in one case, and subdural collection occurred in four cases. A second surgery was performed in four cases because of seizure relapse (n = 3) and/or incomplete disconnection on MRI (n = 4). With a mean follow-up of 3.2 years, International League Against Epilepsy class I epilepsy outcome was obtained for 37/39 patients., Conclusion: IVH is a safe and effective variation of the vertical approaches for hemispheric disconnection. It allows a good exposure and anatomic control of the corpus callosum, which is a frequent site of incomplete disconnection. IVH may be limited by the thalamic volume and the ventricular size, notably in hemimegalencephaly cases., (Copyright © Congress of Neurological Surgeons 2023. All rights reserved.)

Objective: Brainstem cavernous malformations (BSCMs) are relatively uncommon, low-flow vascular lesions in children. Given the paucity of data, guidelines regarding the clinical management of BSCMs in children are lacking and the surgical indication is most commonly based on an individual surgeon's judgment and experience. The goal in this study was to evaluate the clinical behavior of BSCMs in childhood and the long-term outcome in children managed conservatively and surgically., Methods: This was an observational, retrospective study including all children with BSCMs who were followed at 2 institutions between 2008 and 2020., Results: The study population consisted of 40 children (27 boys, 67.5%) with a mean age of 11.4 years. Twenty-three children (57.5%) were managed conservatively, whereas 17 children (42.5%) underwent resection of BSCMs. An aggressive clinical course was observed in 13 children (32.5%), who experienced multiple hemorrhages with a progressive pattern of neurological decline. Multiple BSCMs were observed in 8 patients, of whom 3 patients presented with a complex of multiple tightly attached BSCMs and posed a significant therapeutic challenge. The overall long-term outcome was favorable (modified Rankin Scale [mRS] scores 0-2) in 36 patients (90%), whereas an unfavorable outcome (mRS scores 3 and 4) was seen in 4 children (10%). An mRS score of 5 or 6 was not observed. The mean (± SD) follow-up was 88.0 (± 92.6) months., Conclusions: The clinical course of BSCMs in children is highly variable, with benign lesions on the one hand and highly aggressive lesions with repetitive hemorrhages on the other. Given the greater life expectancy and the known higher functional recovery in children, surgical treatment should be considered early in young patients presenting with surgically accessible lesions and an aggressive clinical course, and it should be performed in a high-volume center.