Search

Les méningo-encéphalocèles (MEC) sincipitaux sont des malformations congénitales rares qui se manifestent par une hernie de tissu cérébral ou méningé à travers une ouverture dans l'étage antérieur de la base du crâne. Ces malformations touchent toujours l'os frontal, plus précisément la région glabellaire et l'angle naso-frontal. Une collaboration entre Médecins du Monde et le Children's Surgical Center de Phnom Penh a permis de prendre en charge plus de quatre cents cas sur vingt ans. Les patients n'ont généralement pas eu d'examens radiologiques, les stratégies chirurgicales étant basées sur les observations cliniques et peropératoires. Il existe plusieurs formes cliniques de MEC : naso-frontales, naso-ethmoïdales, et naso-orbitaires. La classification de Suwanwela de 1972 reste la plus pertinente. Les MEC naso-frontales sont souvent associés à une importante expansion cutanée sans déformation osseuse majeure, contrairement aux MEC naso-ethmoïdales, qui entraînent des déformations significatives et sont les plus fréquentes. Les MEC naso-orbitaires, plus rares, provoquent le plus souvent une augmentation du volume orbitaire. La nature du tissu hernié et le volume de la hernie sont déterminants pour la stratégie chirurgicale. La canthopexie, un élément clé de la reconstruction, doit être précise et répond à des règles strictes pour assurer un résultat esthétique. Le remodelage fronto-nasal finalise la réparation. La chirurgie des MEC suit des principes bien codifiés. Le contexte humanitaire influence la prise en charge, avec un accent sur la sécurité chirurgicale et la transmission des compétences. Le traitement repose sur une vision clinique plus que radiologique, même si les avancées en imagerie sont aujourd'hui disponibles au Cambodge. Le suivi à long terme, surtout chez les enfants, reste un défi à documenter pour évaluer les impacts sur la croissance et la stabilité des résultats chirurgicaux. Sincipital meningoencephaloceles (MECs) are rare congenital malformations characterized by the herniation of brain or meningeal tissue through an opening in the anterior floor of the skull base. These malformations always affect the frontal bone, specifically the glabellar region and the naso-frontal angle. A collaboration between Médecins du Monde and the Children's Surgical Center in Phnom Penh has enabled the treatment of over four hundred cases over twenty years. Patients typically have not undergone radiological examinations, with surgical strategies based on clinical and intraoperative observations. There are several clinical forms of MECs: naso-frontal, naso-ethmoidal, and naso-orbital. The 1972 classification by Suwanwela remains the most relevant. Naso-frontal MECs are often associated with significant skin expansion without major bone deformity, unlike naso-ethmoidal MECs, which lead to significant deformities and are the most common. Naso-orbital MECs, being rarer, most frequently result in an increased orbital volume. The nature of the herniated tissue and the volume of the hernia are critical in determining the surgical strategy. Canthopexy, a key element of reconstruction, must be precise and adhere to strict rules to ensure an aesthetic result. The fronto-nasal remodeling completes the repair. The surgery for MECs follows well-codified principles. The humanitarian context influences management, with an emphasis on surgical safety and skill transmission. Treatment relies more on clinical assessment than radiological, although imaging advancements are now available in Cambodia. Long-term follow-up, especially in children, remains a challenge to document in order to evaluate the impacts on growth and the stability of surgical outcomes. [ABSTRACT FROM AUTHOR]

Objective: As craniospinal irradiation (CSI) is delivered more frequently by helical tomotherapy (HT) with few reports about late effects, we analysed all patients treated in our centre over an 11-year period., Methods and Materials: Our study included all patients that underwent CSI by HT, between September 2009 and January 2020, in the Department of Radiation Oncology of the Toulouse Cancer Institute. Acute radiotherapy toxicities were reported and medium- to long-term outcomes analysed., Results: Among the 79 patients included, 70.9 % were younger than 18 years at diagnosis, the median age was 13 (range: 1-52) at the time of radiation therapy, 67.1 % of patients had medulloblastoma. Half of them (49.4 %) had a metastatic disease at diagnosis. The median dose of CSI was 36 Gy (range, 18-36). Seventy-seven patients received a radiation boost to the original location of the primary tumour (97.5 %), 32 patients also received a boost to their metastatic sites (40.5 %). Median follow-up was 55.5 months (95 %CI = [41.2; 71.8]). The 3-year event-free survival rate was 66.3 % (95 %CI = [54.2; 75.9]). Most patients presented with acute haematological toxicities during CSI (85.9 %), predominantly severe thrombocytopenia (39.7 %). Among the 64 patients assessed for medium- and long-term outcomes, 52 survived and 47 were alive and disease-free at the latest follow-up visit on record. There were 3.8 % secondary tumours: two meningiomas and one diffuse intrinsic pontine glioma. Adult and paediatric patients respectively presented with secondary cataract (4.3 % vs 22.0 %), persistent hearing disorders (26.1 % vs 29.3 %), pulmonary or cardiac late effects (4.3 % vs 2.4 %), hormonal pituitary gland deficiencies (30.0 % vs 56.8 %) and psycho-cognitive disorders (56.5 % vs 53.7 %)., Conclusion: CSI dispensed by HT, did not result in any additional acute or late toxicities when compared to 3D-CSI. There was no increase in the secondary tumour rate compared to that reported in the literature., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2024 The Authors.)

Background: Glioblastoma (GBM) systematically recurs after a standard 60 Gy radio-chemotherapy regimen. Since magnetic resonance spectroscopic imaging (MRSI) has been shown to predict the site of relapse, we analyzed the effect of MRSI-guided dose escalation on overall survival (OS) of patients with newly diagnosed GBM., Methods: In this multicentric prospective phase III trial, patients who had undergone biopsy or surgery for a GBM were randomly assigned to a standard dose (SD) of 60 Gy or a high dose (HD) of 60 Gy with an additional simultaneous integrated boost totaling 72 Gy to MRSI metabolic abnormalities, the tumor bed and residual contrast enhancements. Temozolomide was administered concomitantly and maintained for 6 months thereafter., Results: One hundred and eighty patients were included in the study between March 2011 and March 2018. After a median follow-up of 43.9 months (95% CI [42.5; 45.5]), median OS was 22.6 months (95% CI [18.9; 25.4]) versus 22.2 months (95% CI [18.3; 27.8]) for HD, and median progression-free survival was 8.6 (95% CI [6.8; 10.8]) versus 7.8 months (95% CI [6.3; 8.6]), in SD versus HD, respectively. No increase in toxicity rate was observed in the study arm. The pseudoprogression rate was similar across the SD (14.4%) and HD (16.7%) groups. For O(6)-methylguanine-DNA methyltransferase (MGMT) methylated patients, the median OS was 38 months (95% CI [23.2; NR]) for HD patients versus 28.5 months (95% CI [21.1; 35.7]) for SD patients., Conclusion: The additional MRSI-guided irradiation dose totaling 72 Gy was well tolerated but did not improve OS in newly diagnosed GBM., Trial Registration: NCT01507506; registration date: December 20, 2011. https://clinicaltrials.gov/ct2/show/NCT01507506?cond=NCT01507506&rank=1., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Purpose: To highlight the changes in the management of vestibular schwannoma (VS) since 2004 with a focus on small- to middle-size VS., Methods: Retrospective analysis of the decisions made in skull base tumor board between 2004 and 2021., Results: 1819 decisions were analyzed (average age 59.25, 54% females). Overall, 850 (47%) cases were allocated to a Wait and Scan (WS) approach, 416 (23%) received radiotherapy and 553 (30%) were treated surgically (MS). All stages considered WS increased from 39% before 2010 to 50% after 2010. Similarly, Stereotactic Radio Therapy (SRT) increased from 5 to 18%. MS decreased from 46 to 25%. It was more commonly proposed to younger patients and larger tumors, p < 0.001. For Koos stages 1, 2, and 3 there was a statistically significant increase in SRT, and a decrease in MS, p < 0.001. WS also increased for stages 1 and 2. However, such a trend was not observed for stage 3. MS remained the primary treatment modality for stage 4 tumors throughout the study period, p = 0.057. The significance of advanced age as a factor favoring SRT decreased over time. The opposite is true for serviceable hearing. There was also a decrease in the percentage of the justification "young age" in the MS category., Conclusion: The is a continuing trend towards non-surgical treatment. Small- to medium-sized VS witnessed an increase in both WS and SRT. There is only an increase in SRT for moderately large VS. Physicians are less and less considering young age as a factor favoring MS over SRT. There is a tendency towards favoring SRT when hearing is serviceable., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: Chiari malformation type I (CM-I) is frequent in children and remains a surgical challenge. Several techniques have been described for posterior fossa decompression. No decision algorithm has been validated, and strategies are highly variable between institutions. The goal of this study was to define therapeutic guidelines that take into consideration patient specificities., Methods: The authors retrospectively collected data from patients who were < 18 years of age, were diagnosed with CM-I, and were treated surgically between 2008 and 2018 in 8 French pediatric neurosurgical centers. Data on clinical features, morphological parameters, and surgical techniques were collected. Clinical outcomes at 3 and 12 months after surgery were assessed by the Chicago Chiari Outcome Scale. The authors used a hierarchical clustering method to define clusters of patients by considering their anatomical similarities, and then compared outcomes between surgical strategies in each of these clusters., Results: Data from 255 patients were collected. The mean age at surgery was 9.6 ± 5.0 years, syringomyelia was reported in 60.2% of patients, the dura mater was opened in 65.0% of patients, and 17.3% of patients underwent a redo surgery for additional treatment. The mean Chicago Chiari Outcome Scale score was 14.4 ± 1.5 at 3 months (n = 211) and 14.6 ± 1.9 at 12 months (n = 157). The hierarchical clustering method identified three subgroups with potentially distinct mechanisms underlying tonsillar herniation: bony compression, basilar invagination, and foramen magnum obstruction. Each cluster matched with specific outcomes., Conclusions: This French multicenter retrospective cohort study enabled the identification of three subgroups among pediatric patients who underwent surgery for CM-I, each of which was associated with specific outcomes. This morphological classification of patients might help in understanding the underlying mechanisms and providing personalized treatment.

Background: Severe traumatic brain injury (TBI) is the most common cause of disability in children. Refractory increased intracranial pressure can be a therapeutic challenge. Decompressive craniectomy can be proposed when medical management is insufficient, but its place is not clearly defined in guidelines. The aim of this study was to identify prognostic factors in children with TBI., Methods: We performed a retrospective, multicenter study to analyze long-term outcomes of 150 children with severe TBI treated by decompressive craniectomy and to identify prognostic factors., Results: A satisfactory neurologic evolution (represented by a King's Outcome Scale for Childhood Head Injury score >3) was observed in 62% of children with a mean follow-up of 3.5 years. Mortality rate was 17%. Prognostic factors associated with outcome were age, initial Glasgow Coma Scale score, presence of mydriasis, neuromonitoring values (maximal intracranial pressure >30 mm Hg), and radiologic findings (Rotterdam score ≥4)., Conclusions: This study in a large population confirms that children with severe TBI treated by decompressive craniectomy can achieve a good neurologic outcome. Further studies are needed to clarify the use of this surgery in the management of children with severe TBI., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Glioblastoma, a high-grade glial infiltrating tumor, is the most frequent malignant brain tumor in adults and carries a dismal prognosis. External beam radiotherapy (EBRT) increases overall survival but this is still low due to local relapses, mostly occurring in the irradiation field. As the ratio of spectra of choline/N acetyl aspartate> 2 (CNR2) on MR spectroscopic imaging has been described as predictive for the site of local relapse, we hypothesized that dose escalation on these regions would increase local control and hence global survival., Methods/design: In this multicenter prospective phase III trial for newly diagnosed glioblastoma, 220 patients having undergone biopsy or surgery are planned for randomization to two arms. Arm A is the Stupp protocol (EBRT 60 Gy on contrast enhancement + 2 cm margin with concomitant temozolomide (TMZ) and 6 months of TMZ maintenance); Arm B is the same treatment with an additional simultaneous integrated boost of intensity-modulated radiotherapy (IMRT) of 72Gy/2.4Gy delivered on the MR spectroscopic imaging metabolic volumes of CHO/NAA > 2 and contrast-enhancing lesions or resection cavity. Stratification is performed on surgical and MGMT status., Discussion: This is a dose-painting trial, i.e. delivery of heterogeneous dose guided by metabolic imaging. The principal endpoint is overall survival. An online prospective quality control of volumes and dose is performed in the experimental arm. The study will yield a large amount of longitudinal multimodal MR imaging data including planning CT, radiotherapy dosimetry, MR spectroscopic, diffusion and perfusion imaging., Trial Registration: NCT01507506 , registration date December 20, 2011.

We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N-terminal transcriptional activation domain of EWSR1 gene and the C-terminal DNA binding domain of a transcription factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF (broad-complex, tramtrack and bric-à-brac -zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation. EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. The first reported glioma was a BRAF V600E negative ganglioglioma, the second a BRAF V600E negative glioneuronal tumor, not otherwise specified and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAF V600E negative gangliogliomas were screened by FISH using EWSR1 break-apart probes. We performed methylation profiling for the index case and for seven out of the ten FISH positive cases. The index case clustered apart from other pediatric low grade glioneuronal entities, and specifically from the well-defined ganglioglioma methylation group. An additional pediatric intraventricular ganglioglioma clustered slightly more closely with ganglioglioma, but showed differences from the main ganglioglioma group and similarities with the index case. Both cases harbored copy number variations at the PATZ1 locus. EWSR1-PATZ1 gene fusion might define a new type of glioneuronal tumors, distinct from gangliogliomas., (© 2018 International Society of Neuropathology.)

Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children. When there are no clinical signs and no eating disorders, an earlier discharge is entirely appropriate. Nevertheless, persistent clinical symptoms including headache, vomiting, and late onset seizure, especially in conjunction with hemodynamic disorders such as bradycardia, present a risk of emergency neurosurgery or neurological deterioration. Special attention should be paid to extradural hematoma (EDH) of more than 10 mm, which can have the most severe consequences. Clinical aggravation does not necessarily correlate with a change in follow-up imaging. Conversely, an apparent increase in the brain lesion on the scan is not consistently linked to a pejorative outcome., Competing Interests: The authors declare that they have no conflicts of interest in relation to this article., (Georg Thieme Verlag KG Stuttgart · New York.)

Purpose: The objective of this study was to analyze survival and prognostic factors for children, adolescents, and young adults treated with postoperative radiation therapy (RT) for intracranial ependymoma., Methods and Materials: Between 2000 and 2013, 202 patients aged ≤25 years were treated in the 13 main French pediatric RT reference centers. Their medical records were reviewed for information, treatments received, and survival rates. All children had received postoperative RT- conformal, intensity modulated, or proton beam. In 2009, the prescribed standard dose in France rose from 54 Gy to 59.4 Gy., Results: Median follow-up was 53.8 months (95% confidence interval [CI] 47-63.5). Median age at RT was 5 years (range 1-22), and 32% of the children treated were aged <3 years. Regarding treatment, 85.6% of patients underwent gross total resection, 62% of patients received conformal RT (vs 29% for intensity modulated RT and 8% for proton beam RT), 62.4% of patients received a dose >54 Gy, and 71% received chemotherapy. Of the 84 relapses, 75% were local. The cumulative incidence of local relapse was 24.4% (95% CI 18.2-31.2) at 3 years and 31.3% (95% CI 24-38.9) at 5 years. The 5-year disease-free survival (DFS) and overall survival rates were 50.4% (95% CI 42.2-58) and 71.4% (95% CI 63.1-78.2). Tumor grade was the only prognostic factor for local relapse and DFS. Tumor grade, age, and extent of resection were independent prognostic factors for overall survival., Conclusions: We confirmed several clinical and tumoral prognostic factors in a large French multicenter study. DFS for intracranial ependymoma remains low, and new biological and imaging markers are needed to distinguish among different subtypes, adapt treatments, and improve survival., (Copyright © 2018 Elsevier Inc. All rights reserved.)

A 21-day-old male infant was admitted with signs of intracranial hypertension. Brain magnetic resonance imaging (MRI) revealed a voluminous mass in the posterior fossa with an intense peripheral enhancement on T1 images with gadolinium. The child was treated secondarily by surgical decompression of the posterior fossa and the lesion was biopsied. The pathological findings indicated infantile hemangioma. Treatment with oral prednisolone was initiated at 3 months, given the lack of tumor involution. Six months after corticotherapy was stopped, repeated MRIs indicated a significant reduction in tumor size and then complete disappearance. Psychometric evaluation was performed at the age of 15 years, showing heterogeneous cognitive disabilities, with verbal abilities superior to nonverbal abilities and delayed motor development. Neurological examination was normal with no focal deficit. To our knowledge, this is the first published case reporting the long-term evolution of a patient with neonatal intracerebral hemangioma. We conclude that psychometric evaluations should be part of the long-term follow-up of children who have had an intracranial capillary hemangioma., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (Georg Thieme Verlag KG Stuttgart · New York.)

Background: Our objective was to analyze the relevance, potential prognostic factors, and complications of endoscopic third ventriculostomy (ETV) in patients with shunt failures., Methods: Among 721 ETVs performed between 1999 and 2013, we studied 53 patients with shunts (31 men, 21 less than 18 years of age) who had an ETV performed for shunt failures as the result of various causes. We included all initial causes of hydrocephalus except adult chronic (i.e., "normal pressure") and pediatric communicant hydrocephalus. The mean duration between initial shunting for hydrocephalus and the ETV procedure was more than 11 years (137 months; range, 1 month to 34 years). Successful ETV procedure was defined as clinical improvement and shunt independence extending until the last follow-up visit., Results: The success rate of the ETV procedure was 70% (37 of the 53 cases) with a mean follow-up of 51 months (from 3 to 157 months) and was not related to the age of the patient (P = 0.922), to the cause of hydrocephalus (P = 0.622), or to the number of shunt failures (P = 0.459). We also found no statistical difference (P = 0.343) between patients whose shunt had been in place for less than 5 years and those shunted more than 5 years. The presence of an infected shunt was not predictive of ETV failure (P = 0.395). No significant intraoperative or postoperative complications were noted., Conclusion: This study confirms that ETV should be considered as the first therapeutic option before shunt revision in cases of initial obstructive hydrocephalus., (Copyright © 2015 Elsevier Inc. All rights reserved.)