Atypical teratoid/rhabdoid tumor (ATRT) and embryonal tumor with multilayered rosettes (ETMR) are rare, highly aggressive embryonal tumors of the central nervous system (CNS) arising in early childhood. Molecular advances have improved diagnostic classification, but important therapeutic uncertainties persist. This comparative narrative review provides a practical framework for the diagnostic and therapeutic approach to ATRT and ETMR, examining their epidemiology, clinical and radiological features, treatment strategies, patterns of failure, and emerging therapeutic approaches. Multimodal treatment incorporating maximal safe resection, intensive chemotherapy, and radiotherapy remains central to management. Across both tumors, radiotherapy is the treatment component most consistently associated with improved outcomes in available studies, although its optimal timing, field, and integration with high-dose chemotherapy remain incompletely defined. Proton therapy may be particularly relevant in this very young population by reducing radiation exposure to developing normal tissues. Although ATRT and ETMR share several radiological features, differences in anatomical distribution and imaging characteristics may assist their recognition in the appropriate clinical setting. Patterns of failure also differ: ETMR is characterized by early, predominantly local relapse, whereas ATRT has a marked propensity for metastatic recurrence. These distinctions support emphasis on durable local control in ETMR and integrated systemic and CNS-directed strategies in ATRT. The evidence base is more mature for ATRT, supported by prospective cooperative studies, whereas ETMR remains informed predominantly by small, retrospective, and heterogeneous cohorts in which the independent contribution of individual treatment modalities remains difficult to define. By comparing the available evidence and recent and ongoing clinical studies, this review aims to assist clinicians in navigating current diagnostic and therapeutic decisions while highlighting priorities for future research.
To evaluate the associations of cyst diameter, clinical symptoms, cyst localization, and Galassi classification with selected neuropsychological test scores in children with supratentorial arachnoid cysts and to examine within-patient changes in these measures before and after surgical treatment. This retrospective cohort included 34 children aged 6–16 years. Baseline neuropsychological performance was assessed using WISC-V Block Design and Digit Span and NEPSY-II Visual Attention and Narrative Memory measures. Seven surgically treated patients underwent repeat assessment after 4–11 months. Nonparametric tests were used, with Holm adjustment across the four neuropsychological outcomes within each analysis family. Cyst diameter was not associated with any baseline neuropsychological test score (all p ≥ 0.747). Symptomatic patients had lower Visual Attention scores than asymptomatic patients (73.7 ± 10.1 vs 85.2 ± 10.6; p = 0.0048; Holm-adjusted p = 0.019). Among 15 patients with temporal cysts, Block Design differed across Galassi groups (p = 0.012; adjusted p = 0.048), whereas the association between Galassi type and symptomatic presentation was not significant (p = 0.141). In the seven operated patients, Block Design increased from 8.0 ± 2.2 to 12.6 ± 1.9 and Visual Attention from 72.0 ± 10.6 to 88.1 ± 6.2 (both exact p = 0.031); neither remained significant after Holm correction (both adjusted p = 0.125). Symptom status and Galassi classification may be associated with selected neuropsychological test scores, whereas no statistically significant association was observed between cyst diameter and the measures evaluated in this cohort. Postoperative changes are preliminary and require confirmation in larger controlled prospective studies.
Intrauterine repair of myelomeningocele has been shown to reduce the need for cerebrospinal fluid shunting and to improve hindbrain herniation and neurological outcomes compared with postnatal repair. However, the implementation of a fetal MMC program remains challenging. To describe our institutional experience in establishing such a program highlighting clinical, organizational, and ethical challenges. In addition, we will present preliminary translational research aimed at preventing recurrent tethered cord. Since its establishment in 2020, three fetuses have undergone open fetal MMC repair at our institution. In the paper, the authors describe the multidisciplinary diagnostic and therapeutic pathway as well as an exemplary case of distal lumbar MMC treated at 25 weeks of gestation. In parallel, an in vitro model of inflammatory and pro-fibrotic stimulation was developed using SH-SY5Y cells exposed to LPS and TGF-β. The effects of N-acetyl cysteine (NAC) and the feasibility of PLGA nanoparticles as a drug-delivery platform were subsequently investigated. In the exemplary case, fetal MRI demonstrated a distal lumbar neural tube closure defect with a 23 × 11-mm myelomeningocele, ventricular dilatation, and Chiari II malformation. Following open fetal repair, 1-month fetal MRI showed no residual neural tube defect and partial restoration of the cerebellar tonsils and fourth ventricle. Delivery occurred by cesarean section at 35 weeks, with an Apgar score of 9–10 and an uncomplicated neonatal course. Our experience also highlighted the complexity of candidate selection, non-directive counseling in a setting where termination of pregnancy is legally available, and the need to maintain a highly specialized multidisciplinary team despite a low annual case volume. In the experimental model, LPS/TGF-β stimulation increased collagen type I and fibronectin expression, while NAC attenuated this response. PLGA nanoparticles demonstrated feasibility as a potential local drug-delivery system. Establishing an IUR program for MMC requires more than technical expertise: rigorous patient selection, multidisciplinary coordination, structured counseling, and long-term neurosurgical follow-up are essential. Centralization of fetal MMC surgery in experienced referral centers, combined with structured simulation training and translational research, may facilitate safer implementation and further improvement of long-term outcomes.
Repeated assessment of postoperative revascularization in pediatric moyamoya disease is clinically important, but digital subtraction angiography (DSA) is invasive. We aimed to develop a novel, non-invasive scoring method (moya-ASPECTS) that applies the six cortical MCA regions of ASPECTS to slab maximum intensity projection (MIP) images from three-dimensional time-of-flight (3D TOF) magnetic resonance angiography (MRA), and to examine its correlation with DSA findings and cerebral blood flow (CBF) changes after surgery. We retrospectively analyzed 45 treated hemispheres in 28 pediatric patients who underwent revascularization between 2010 and 2023. Eight hemispheres underwent indirect revascularization alone and 37 underwent combined direct and indirect revascularization. We evaluated postoperative cortical revascularization using the moya-ASPECTS score based on slab MIP images derived from 3D TOF MRA, and examined its associations with Matsushima grade, resting cerebral blood flow (CBF), cerebrovascular reserve (CVR), and regression of basal moyamoya vessels. The moya-ASPECTS score showed a strong correlation with Matsushima grade (p < 0.001). Postoperative resting CBF increased by 2.27 ml/100 g/min for each point increase in moya-ASPECTS (95
Vertebro-venous fistula (VVF) is a rare high-flow arteriovenous shunt between the vertebral artery and the surrounding venous plexus. Spontaneous VVF in the pediatric population is exceptionally uncommon. Prior pediatric reports have demonstrated successful endovascular fistula occlusion with preservation of vertebral artery patency, although the reported experience remains limited. A 9-year-old boy presented with an 8-month history of progressive cervical and upper thoracic pain without neurological deficit. MRI demonstrated a left suboccipital vascular lesion with bilateral vertebral artery enlargement and diminution of the distal left vertebral artery. Digital subtraction angiography confirmed a high-flow direct arteriovenous fistula at the V3 segment with a large venous pouch and absence of V4 visualization. Endovascular coil embolization achieved marked reduction in fistula flow with immediate restoration of V4 segment visualization. Follow-up angiography confirmed complete obliteration without residual shunting. Spontaneous pediatric VVF can be successfully treated by precise fistula-point coil occlusion with vertebral artery preservation. Timely and complete endovascular fistula obliteration can restore distal vertebral artery visualization while preserving the parent artery. This illustrates the potential reversibility of flow-related angiographic abnormalities in high-flow VVF.
