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The craniocervical junction (CCJ) forms the bridge between the skull and the spine, a highly mobile group of joints that allows the mobility of the head in every direction. The CCJ plays a major role in protecting the inferior brainstem (bulb) and spinal cord, therefore also requiring some stability. Children are subjected to multiple constitutive or acquired diseases involving the CCJ: primary bone diseases such as in FGFR‐related craniosynostoses or acquired conditions such as congenital torticollis, cervical spine luxation, and neurological disorders. To design efficient treatment plans, it is crucial to understand the relationship between abnormalities of the craniofacial region and abnormalities of the CCJ. This can be approached by the study of control and abnormal growth patterns. Here we report a model of normal skull base growth by compiling a collection of geometric models in control children. Focused analyses highlighted specific developmental patterns for each CCJ bone, emphasizing rapid growth during infancy, followed by varying rates of growth and maturation during childhood and adolescence until reaching stability by 18 years of age. The focus was on the closure patterns of synchondroses and sutures in the occipital bone, revealing distinct closure trajectories for the anterior intra‐occipital synchondroses and the occipitomastoid suture. The findings, although based on a limited dataset, showcased specific age‐related changes in width and closure percentages, providing valuable insights into growth dynamics within the first 2 years of life. Integration analyses revealed intricate relationships between skull and neck structures, emphasizing coordinated growth at different stages. Specific bone covariation patterns, as found between the first and second cervical vertebrae (C1 and C2), indicated synchronized morphological changes. Our results provide initial data for designing inclusive CCJ geometric models to predict normal and abnormal growth dynamics. [ABSTRACT FROM AUTHOR]

Context Outcome of craniopharyngioma is related to its locoregional extension, which impacts resectability and the risk of surgical complications. To maximize resection and minimize complications, optic tract localization, temporal lobe extension, and hypothalamic involvement are essential factors for surgical management. Objective To assess the outcome of craniopharyngiomas depending on their relation to the hypothalamus location. Methods We conducted a retrospective analysis of 79 patients with a craniopharyngioma who underwent surgery from 2007 to 2022. Craniopharyngiomas were classified in 3 groups, depending on the type of hypothalamus involvement assessed by preoperative magnetic resonance imaging: infra-hypothalamic (type A, n = 33); perforating the hypothalamus (type B, n = 40); and supra-hypothalamic (type C, n = 6). Surgical strategy was guided by the type of hypothalamic involvement, favoring endonasal approaches for type A and type B, and transcranial approaches for type C. Results Long-term disease control was achieved in 33/33 (100%), 37/40 (92%), and 5/6 (83%) patients in type A, B, and C, respectively. In type B, vision was improved in 32/36 (89%) patients, while hypothalamic function was improved, stable, or worsened in 6/40 (15%), 32/40 (80%), and 2/40 (5%) patients, respectively. Papillary craniopharyngiomas were found in 5/33 (15%), 9/40 (22%), and 3/6 (50%) patients in types A, B, and C, respectively. In 4 patients, BRAF/MEK inhibitors were used, with significant tumor shrinkage in all cases. Conclusion Craniopharyngiomas located below the hypothalamus or perforating it can be safely treated by transsphenoidal surgery. For supra-hypothalamic craniopharyngiomas, postoperative results are less favorable, and documenting a BRAF mutation may improve outcome, if targeted therapy was efficient enough to replace surgical debulking. [ABSTRACT FROM AUTHOR]

This article discusses a case study of a rare brain tumor called diffuse midline glioma (DMG) with ependymal features. DMG is a type of brain tumor that primarily affects children and is characterized by alterations in a specific gene called H3K27. The case study focuses on a specific subtype of DMG called EGFR-subtype, which is associated with mutations in the EGFR gene. The study highlights the challenges in diagnosing this subtype and emphasizes the importance of integrating radiological, histopathological, genetic, and epigenetic data for an accurate diagnosis. The authors suggest that DMG with ependymal features may be misdiagnosed as another type of brain tumor called posterior fossa ependymoma, and further research is needed to better understand the characteristics and prognosis of this subtype. [Extracted from the article]

Background Recurrence following obliteration of brain arteriovenous malformations (AVMs) is common in children surgically treated, but recurrences following endovascular (EVT) and radiosurgical approaches are scantily reported. Objective To analyze the rates and risk factors for AVM recurrence after obliteration in a single-center cohort of children with ruptured AVMs treated with multimodal approaches, and to carry out a comprehensive review and meta-analysis of current data. Methods Children with ruptured AVMs between 2000 and 2019 enrolled in a prospective registry were retrospectively screened and included after angiographically determined obliteration to differentiate children with/without recurrence. A complementary systematic review and meta-analysis of studies investigating AVM recurrence in children between 2000 and 2020 was aggregated to explore the overall recurrence rates across treatment modalities by analyzing surgery versus other treatments. Results Seventy children with obliterated AVMs were included. AVM recurrences (n=10) were more commonly treated with EVT as final treatment (60% in the recurrence vs 13.3% in the no- recurrence group, p=0.018). Infratentorial locations were associated with earlier and more frequent recurrences (adjusted relative risk=4.62, 95% CI 1.08 to 19.04; p=0.04). In the aggregate analysis, the pooled rate of AVM recurrence was 10.9% (95% CI 8.7% to 13.5%). Younger age at presentation was associated with more frequent recurrences (RR per year increase, 0.97, 95% CI 0.93 to 0.99; p=0.046). Conclusion Location of infratentorial AVMs and younger age at presentation may be associated with earlier and more frequent recurrences. The higher rates of recurrence in patients with AVMs obliterated with EVT questions its role in an intent-to-cure approach and reinforces its position as an adjunct to surgery and/or radiosurgery. [ABSTRACT FROM AUTHOR]

KRAS gain-of-function mutations are frequently observed in sporadic arteriovenous malformations. The mechanisms underlying the progression of such KRAS-driven malformations are still incompletely understood, and no treatments for the condition are approved. Here, we show the effectiveness of sotorasib, a specific KRAS G12C inhibitor, in reducing the volume of vascular malformations and improving survival in two mouse models carrying a mosaic Kras G12C mutation. We then administered sotorasib to two adult patients with severe KRAS G12C-related arteriovenous malformations. Both patients had rapid reductions in symptoms and arteriovenous malformation size. Targeting KRAS G12C appears to be a promising therapeutic approach for patients with KRAS G12C-related vascular malformations. [ABSTRACT FROM AUTHOR]

Background: Fronto-facial monobloc advancement with internal distraction (FFMBA) is a central procedure in the management of FGFR-related craniosynostoses. Children undergoing FFMBA may present with resorption of the frontal bony flap in the months or years following surgery. Here, we aimed at identifying the clinical factors associated with resorption and its extent in patients with Crouzon and Pfeiffer syndromes., Methods: We conducted a retrospective monocentric study of children with Crouzon and Pfeiffer syndromes who underwent FFMBA between May 2008 and October 2021, with available CT-scan data (1) early after surgery before the initiation of distraction, (2) at the end of distraction, (3) 2 years after surgery and optionally (4) 5 years or more after surgery. The following parameters were included: sex, age, mutation, number of previous craniofacial procedures, presence of tracheostomy or ventriculo-peritoneal (VP) shunt, FFMBA indication (raised ICP, OSAS, exorbitism, morphology), per-operative parameters (use of osteosynthesis, per-operative advancement, duration of surgery) and post-operative parameters (CSF leak, infection, distraction initiation, total advancement, persistence of a retro-frontal dead space)., Results: 63 patients were included, with a mean age of 2.91 years (SD=1.61) at the time of surgery, male/female sex ratio of 1.1, and a majority of Crouzon syndrome (84%). Two years after surgery (average: 622 days, SD=286.7), mean frontal bone flap resorption was 4.83 cm2 ([0-27.3], SD=5.35). Factors associated with more severe frontal bone resorption were the intraoperative use of absorbable sutures vs steel wires (9.83 vs. 3.99, p=0.04) and the persistence of a retro-frontal dead space at 2 years after surgery (13.12 vs. 3.63, p<0.001)., Conclusion: The use of absorbable sutures for frontal bone fixation in FFMBA and the persistence of a retro-frontal dead space two years after surgery are risk factors for bone resorption. This report indicates that rigid osteosynthesis should be favored, and both per-operative and early post-operative distractor activation should be performed with care and follow-up of brain expansion., Competing Interests: Disclosure: The authors have no conflict of interest relevant to this article to disclose., (Copyright © 2024 by the American Society of Plastic Surgeons.)

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.