INTRODUCTION:Multidisciplinary spina bifida clinics using an integrated care model are designed to address the complex healthcare needs associated with open neural tube defects by delivering coordinated, streamlined, and comprehensive care. However, the impact of this care model on healthcare utilization patterns remains unclear, particularly among resource-limited populations. We therefore assessed the relationship between integrated care, social determinants of health, and healthcare utilization among patients with open neural tube defects, with a specific focus on unanticipated healthcare encounters. METHODS:All patients with open neural tube defects who were seen by a pediatric neurosurgeon at Connecticut Children's between January 1, 2021, and May 1, 2023 were retrospectively reviewed. Patients seen in an integrated, multidisciplinary Spina Bifida Clinic were compared to those who were evaluated exclusively in the pediatric neurosurgery clinic without concurrent multidisciplinary evaluations. Recurrent event risk of an unexpected healthcare encounter following the index routine visit was modelled with Andersen-Gill Cox proportional hazards, adjusting for demographic, social determinants of health, and select clinical factors. RESULTS:Forty nine patients met the inclusion criteria. During the study period, they had a total of 326 appointments, including 196 unexpected visits. There was 1 median unexpected visit per patient (IQR 0-2.50) in the integrated cohort, compared to 3 (IQR 1-5.75) in the non-integrated cohort (p = 0.02). The emergency department (ED) was the most common setting for unexpected encounters, with 82 total visits and 65.3% of patients having at least one visit. Integrated care was associated with a 79% lower hazard of having an unexpected clinic visit (adjusted HR 0.21, 95% CI 0.09-0.51; p < 0.001), but ED visits were similar between the two cohorts. CONCLUSION:In this preliminary analysis, engagement with a multidisciplinary spina bifida clinic was associated with a significant reduction in the risk of having an unplanned clinic encounter, highlighting integrated care as a promising strategy to curb high cost utilization in this population. Prospective multicenter studies are needed to determine the extent of this effect, determine which clinic components drive this benefit, and to evaluate cost effectiveness across diverse settings.
INTRODUCTION:Diffuse leptomeningeal glioneuronal tumor (DLGNT) with H3K27M mutation is a rare and potentially fatal condition, with only a few cases reported in the literature. We present an unusual case of DLGNT presenting with communicating hydrocephalus secondary to leptomeningeal spread, initially misdiagnosed as idiopathic intracranial hypertension (IIH), with coexisting BRAF-KIAA1549 fusion and H3K27M mutation. CASE PRESENTATION:An 11-year-old boy presented with progressive, painless bilateral vision loss. Initial neuroimaging findings were misinterpreted as IIH, and a programmable ventriculoperitoneal (VP) shunt was placed. However, the underlying communicating hydrocephalus was secondary to leptomeningeal spread of DLGNT. Three months later, the patient developed lower limb weakness, and repeat imaging revealed diffuse leptomeningeal disease with spinal involvement. Histopathology and molecular testing confirmed DLGNT harboring both H3K27M mutation and BRAF-KIAA1549 fusion. Despite planned multimodal therapy, the patient experienced rapid neurological deterioration and died four months after diagnosis. CONCLUSION:This case demonstrates that DLGNT can present with communicating hydrocephalus secondary to leptomeningeal spread, which may be misdiagnosed as IIH. Early comprehensive neuroaxis imaging, prompt molecular characterization, and close surveillance are essential in pediatric patients with communicating hydrocephalus of unclear etiology.
BACKGROUND:Traumatic brain injury (TBI) is a leading cause of morbidity and mortality in children worldwide. In the United States, and in the state of Alaska in particular, American Indian/Alaska Native (AI/AN) children experience a disproportionate burden of healthcare disparities. Understanding the epidemiology, mechanisms of injury, access to care, and long-term clinical outcomes in this vulnerable population is crucial for guiding management strategies and prevention initiatives. OBJECTIVES:This scoping review aimed to characterize the epidemiology of pediatric TBI among AI/AN children in the United States; examine mechanisms of injury, hospitalization, and mortality patterns; assess disparities in diagnostic evaluation, insurance status, inpatient and post-discharge care; evaluate current prevention and intervention strategies; and and propose future directions to reduce healthcare inequities among AI/AN children. METHODS:we systematically searched PubMed/MEDLINE, Embase, Scopus, Web of Science, and Google Scholar for English-language, peer-reviewed studies examining TBI in AI/AN children (<18 years). Eligible studies reported epidemiology, clinical outcomes, healthcare disparities, or interventions. Data extraction and quality assessment were conducted independently by multiple reviewers, with methodological rigor assessed using the NIH Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. RESULTS:AI/AN children demonstrated the highest TBI-related hospitalization and mortality rates nationally, with the burden most pronounced in children < 4 years and in adolescents. Motor vehicle accidents were the leading cause of TBI-related hospitalization and mortality, often associated with alcohol involvement and low utilization of protective equipment. Violence, including blunt trauma and firearm injuries, accounted for disproportionately higher mortality rates, with firearm-related TBI deaths up to three-fold higher compared to that among white children. Disparities extended beyond the mechanism of injury, as AI/AN children were less likely to undergo advanced imaging and experienced longer hospital stays. Additionally, AI/AN children had the lowest rates of private insurance coverage and the highest reliance on Medicaid/Medicare, contributing to the limited access to rehabilitation services and post-discharge healthcare services. CONCLUSION:AI/AN children with TBI bear a substantial burden of healthcare disparities. The limited healthcare infrastructure, insurance disparities, and cultural barriers, in addition to the geographical isolation of those who live in the state of Alaska amplify the burden of healthcare disparities faced by these children. Addressing these disparities requires a multi-faceted approach, including improved surveillance, standardized case definitions, expansion of preventive initiatives, telemedicine, workforce development and diversification, and culturally sensitive care models.
INTRODUCTION:Aneurysmal subarachnoid hemorrhage (aSAH) in pediatric patients is a rare but severe disease associated with significant morbidity and mortality. While endovascular treatment is widely used in adult aSAH, its utilization and outcomes in pediatric patients remain underexplored. METHODS:This retrospective cohort study used the National Inpatient Sample (NIS) to identify pediatric patients (<18 years) who underwent endovascular treatment for aSAH from 2000 to 2020. Outcomes analyzed included in-hospital mortality, nonhome discharge, length of stay, overall hospital course complications, and inflation-adjusted cost of care. Multivariable regression models assessed predictors of outcomes and healthcare resource utilization. RESULTS:Throughout the study period, 1,923 pediatric patients underwent endovascular aSAH therapy from 2000 to 2020. The mean age was 11.9 ± 5.2 years. The overall in-hospital mortality rate was 4.1%, and 40.6% of patients required nonhome discharge. Complications at any point in hospitalization were frequent (67.7%), with pulmonary complications (64.3%) being the most common, followed by deep vein thrombosis (13.0%) and thromboembolic events (12.4%). Sepsis occurred significantly more often in boys than girls (13.2% vs. 1.6%, p = 0.011). Mean hospitalization cost was USD 108,442.93 ± USD 95,971.98. Racial disparities in morbidity and mortality were slim. The National Inpatient Sample Subarachnoid Hemorrhage Severity Score (NIS-SSS) was a significant predictor of nonhome discharge (adjusted odds ratio [aOR] 1.28, p = 0.0049) and adverse hospital course events (aOR 1.94, p = 0.0036). The South (p = 0.0029) and West (p = 0.0008) patients were significantly less likely to experience nonhome discharge than those in the Northeast. CONCLUSION:Endovascular therapy for pediatric aSAH has increased significantly over 2 decades, with stable hospital course complication rates and relatively low in-hospital mortality. The NIS-SSS score predicts nonhome discharge and adverse hospital course events, supporting its role in pediatric risk stratification. Despite regional differences in discharge patterns, care appears equitable across demographic and socioeconomic groups.
INTRODUCTION:Pilocytic astrocytoma (PA) is the most common pediatric brain tumor and is generally associated with favorable outcomes following complete surgical resection. Most tumors harbor MAPK pathway alterations, particularly BRAF-KIAA1549 fusion. However, emerging evidence suggests that PAs with BRAFV600E and TP53 mutations may exhibit more aggressive biological behavior and an increased risk of recurrence. We report a recurrent pediatric PA harboring concurrent BRAFV600E and TP53 mutations and discuss the potential clinical significance of this molecular profile. CASE PRESENTATION:A 10-year-old child underwent gross total resection of a cerebellar PA. Histopathological examination confirmed the diagnosis of PA. Molecular analysis demonstrated concurrent BRAFV600E and TP53 mutations. Despite initial complete resection, the patient developed early tumor recurrence during follow-up. The recurrent lesion showed features consistent with PA without evidence of high-grade transformation. The clinical course suggests a more aggressive biological behavior than typically expected for conventional PA. CONCLUSION:This case highlights the potential prognostic significance of concurrent BRAFV600E and TP53 mutations in PA. The coexistence of these alterations may identify a subset of pediatric patients at increased risk of tumor regrowth despite gross total resection. Comprehensive molecular profiling may improve risk stratification, guide surveillance strategies, and enhance understanding of the biological heterogeneity of PA.
Introduction: Intracranial teratomas are rare congenital neoplasms that typically arise in midline structures such as the pineal and suprasellar regions. Occipital region teratomas are exceedingly uncommon. Case Presentation: We report a case of a full-term neonate born with an occipital region mass initially presumed to be an encephalocele. Postnatal surgical resection revealed a mature teratoma. At 8 months of age, the patient showed no evidence of tumor recurrence. Conclusion: This case illustrates the unique clinical and operative considerations in managing rare congenital occipital region lesions.
Introduction: Extracranial carotid artery aneurysms (ECAAs) are exceedingly rare in children, with only a limited number of cases reported worldwide. Surgical reconstruction in infancy poses unique challenges owing to vascular fragility and the need for long-term growth compatibility. Case Presentation: We report the case of a 1-year-old boy with a large right ECAA who was treated with graft-free internal-to-external carotid artery (ICA-to-ECA) transposition. The aneurysm was completely resected, the proximal ICA was ligated, and the distal ICA was anastomosed adjacent to the ECA. Microsurgical reconstruction was performed under temporary clipping, with an occlusion time of 22 min. Postoperative angiography confirmed excellent flow through the transposed vessel. Serial imaging over a 13-year follow-up period demonstrated persistent patency without stenosis or proportional diameter growth of the reconstructed ICA, with no neurological complications or ischemic events. The anastomotic segment enlarged proportionally to the patient’s cervical growth, indicating successful long-term biological integration. Conclusion: This case represents one of the longest documented follow-ups of pediatric ECAA reconstruction using native arterial tissues. Direct ICA-to-ECA transposition provides a durable, infection-free, and growth-adaptive solution superior to prosthetic or vein graft repair. This outcome underscores the central tenet of pediatric neurosurgery: surgical innovation must harmonize with a child’s lifelong development.
INTRODUCTION:MoyaMoya Disease (MMD) is a progressive cerebrovascular disorder characterized by stenosis of the arteries of the circle of Willis with development of collateral vessels. When associated with other conditions, it is termed MoyaMoya syndrome (MMS). Recommendations for surgical interventions in pediatric cases remain limited. Early onset, especially in children younger than 3 years, is linked to poorer outcomes. Drawing from our institutional experience, we propose a treatment algorithm to optimize revascularization strategies in children, with particular focus on this high-risk subgroup. METHODS:A retrospective analysis was conducted on patients with MMD or MMS who underwent surgical revascularization before the age of 3 at our institution between January 2015 and July 2023. Data included demographics, clinical presentation, surgical techniques, complications, and outcomes. RESULTS:Sixteen patients underwent surgery. Transient ischemic attacks and seizures were the most frequent onset symptoms (45.7% each), followed by intellectual disability (25%). Magnetic resonance imaging (MRI) revealed ischemic lesions in 75% of cases and posterior circulation involvement in 5 patients. The mean surgical age was 2.1 ± 0.9 years. Indirect revascularization was the primary surgical approach, with two patients receiving a combined direct and indirect bypass. At follow-up (5.6 ± 1.8 years old), 50% remained asymptomatic. MRI showed improved perfusion in 66% of patients, and progression was observed in two. CONCLUSION:Children under 3 years old with MMD/MMS present an aggressive clinical, "unstable" disease course, with higher rates of preoperative infarction, posterior cerebral artery involvement, and recurrent strokes. These features correlate with poor outcomes, particularly when surgery is delayed, likely due to the metabolic vulnerability of the immature brain. Given the lack of standardized surgical guidelines, our study supports early surgical intervention, using indirect or combined revascularization techniques. We propose a tailor algorithm on affected vascular territories, incorporating direct bypass procedures, when feasible.
INTRODUCTION:Pediatric meningiomas are rare tumors with clinical and biological features distinct from adult meningiomas. This study reviews 20-year experience of managing pediatric meningiomas at a tertiary referral center, focusing on their clinical characteristics, pathological features, treatment outcomes, and prognostic factors. METHODS:A retrospective analysis of 47 pediatric patients (<18 years) diagnosed with meningiomas between January 2005 and December 2024 was performed. Data on demographics, clinical presentation, radiological features, tumor location, histopathology, extent of resection, adjuvant therapy, and outcomes were collected. Recurrence rate and event-free survival were analyzed using Kaplan-Meier estimates, and predictors of recurrence were assessed with univariate and multivariate analyses. RESULTS:Pediatric cases accounted for 3.9% of all meningiomas treated during the study period (47/1,194). The median age was 13 years (IQR, 10-15), with a slight female predominance (55.3%). Neurofibromatosis was present in 21% of patients. Most tumors were supratentorial (76.6%), and 19% were intraventricular. The mean tumor volume in the series was 61.4 ± 75.2 cm3. High-grade meningiomas (WHO grade II and III) comprised 61.7% of cases. Gross total resection was achieved in 82.9%, and 53.2% received adjuvant radiotherapy. At a median follow-up of 41 months (IQR, 20-74 months), recurrence occurred in 21.3% of patients. On multivariate analysis, higher MIB-1 labeling index and longer follow-up duration were independent predictors of recurrence. CONCLUSION:Pediatric meningiomas, though rare, often display aggressive histopathology and a high risk of recurrence despite gross total resection. Multivariate analysis identified the MIB-1 labeling index and longer follow-up duration as independent predictors of recurrence, highlighting the importance of proliferative activity and extended surveillance in long-term disease control. These findings underscore the importance of biomarker-driven risk stratification and ongoing post-treatment monitoring in pediatric meningioma management.
INTRODUCTION:While selective dorsal rhizotomy (SDR) improves spasticity, the benefit in hereditary spastic paraplegia (HSP) remains unclear. This study describes a single institution's outcomes and experience with SDR in children with HSP. METHODS:We conducted a retrospective chart review of pediatric patients (≤18 years) with HSP who underwent SDR at Monroe Carell Jr. Children's Hospital between July 2013 and January 2024. Patients were evaluated with standardized assessments, including the Modified Ashworth Scale (MAS), Gross Motor Function Classification System (GMFCS), Gross Motor Function Measure-66 (GMFM-66), Manual Ability Classification System (MACS), Functional Mobility Scale (FMS), 10-Meter Walk Test (10MWT), Pediatric Balance Scale (PBS), and Pediatric Quality of Life (PedsQL) Cerebral Palsy Module. RESULTS:Six patients (2 males, 4 females) aged 4-14 years underwent SDR, with a median follow-up of 17.65 months (range 11.8-38.9). Our cohort had four ATL1 and two SPAST mutations. Five patients had uncomplicated HSP, while 1 had complicated HSP. A median of 60% of rootlets were cut bilaterally (range 56-63). No major surgical complications occurred. Median MAS decreased from 16 preoperatively to 0 postoperatively. GMFM-66 improved from 74.8 to 79.1. In FMS testing, three patients achieved independent ambulation across all surfaces. 10MWT times improved from a median of 5.6 to 4.7 s. MACS scores improved in one patient and were otherwise stable. Balance scores remained stable or improved. Absolute PedsQL scores improved in 5 patients, with pain and fatigue showing greatest reduction. At follow-up, only 1 patient required orthotic support, compared to four preoperatively. CONCLUSION:SDR may offer marked reductions in spasticity, with associated improvements in ambulation, functional mobility, quality of life, and orthotic dependence. SDR was safe and well tolerated. Larger studies are needed to confirm statistical significance, define long-term efficacy, and optimize patient selection.
INTRODUCTION:Despite the generally benign and slow-growing nature of many adult meningiomas, meningiomas in pediatric patients often exhibit more aggressive behavior. Gamma Knife stereotactic radiosurgery (SRS) is a non-invasive modality that is widely used as either an initial upfront or adjuvant management for meningiomas. We reviewed our 35-year meningioma experience to assess its role in pediatric patients. METHODS:The authors reviewed the clinical and imaging data of 2,030 meningioma patients who underwent SRS between 1987 and 2022 at the University of Pittsburgh Medical Center (UPMC). We identified 9 patients <18 years (2 female; median age, 14.5 years). None of the patients had neurofibromatosis type 2. The neurological outcomes, overall survival, local tumor control, and development of adverse radiation effects were evaluated. Three patients received prior therapeutic radiation: one underwent prophylactic cranial irradiation for lymphoblastic leukemia, one received focal cranial irradiation for craniopharyngioma, and one underwent craniospinal irradiation for medulloblastoma. Seven patients had prior tumor resection, while two asymptomatic patients were diagnosed incidentally (one during craniopharyngioma surveillance imaging and the other after head trauma). The median cumulative tumor volume at SRS was 6.0 cc (range, 0.5-11.8 cc). The median margin dose prescribed was 14 Gy (range, 11-25 Gy). RESULTS:At last follow-up, 5 patients were alive. Four patients had died, two from progressive intracranial disease and two from unrelated medical causes. The median overall survival was 8.9 years (range 2.0-16.2 years). The median progression free survival was 8.2 years (range 1.1-13.4 years). Five patients experienced tumor progression at a median of 2.1 years (range, 1.1-13.4 years) after SRS. After local tumor progression, 2 patients received repeat SRS, and the remaining patients required additional surgery, fractionated external beam radiotherapy, or chemotherapy. No patient developed adverse radiation effects, had malignant tumor transformation, or developed other types of CNS malignancies. CONCLUSION:Meningiomas are rare tumors in the pediatric age group and can exhibit aggressive behavior. Tumor control was achieved in 6 of 9 patients after one or more SRS procedures. SRS presents as a reasonable primary option or should be considered for early intervention after surgery. Patients and families should be counseled that multiple SRS sessions might be needed to achieve eventual tumor control.
Background: Burnout and overcommitment are increasingly recognized challenges in neurosurgery, particularly among women and underrepresented groups. Summary: This article reflects on professional lessons regarding the importance of boundaries, balance, and the courage to say no as essential components of wellness and sustainable careers in neurosurgery. The discussion highlights systemic pressures, gender disparities, and strategies for resilience. Key Messages: Boundaries are safeguards, not barriers; saying no is an act of leadership; redefining success beyond volume metrics is critical for long-term wellness.
INTRODUCTION:Complex spinal dysraphism is the condition where multiple dysraphic pathologies are observed in the same patient. Complex type split cord malformation (SCM) is a compound dysraphic phenotype involving disruptions at multiple developmental stages, characterized by the co-occurrence of SCM and spina bifida aperta. This study aimed to understand the differences between complex SCMs from classical SCM cases in terms of embryological aspects, perioperative management, and follow-up. METHODS:Patients with SCM associated with spina bifida aperta who were treated at Dicle University and Kocaeli University, Departments of Neurosurgery, between 2011 and 2025 were included in the study. Patient age (months), gender, presenting clinic, lesion localization, SCM type, number of affected vertebrae, neurological status, presence of tethered cord, presence of kyphoscoliosis, spina bifida aperta type, Chiari malformation, syringomyelia, presence of posterior fusion defect number of vertebrae with defect, hydrocephalus, accompanying intracranial pathologies, and additional anomalies were included in the study. RESULTS:The study included 44 patients who underwent surgery for complex SCM. Of the patients, 81.8% were operated on during the neonatal period in the same session with spina bifida aperta surgery. Surgery was planned for 11.4% of patients for follow-up purposes and for 6.8% following detection of SCM on MRI performed due to gait disturbances. It was observed that 68.2% of patients were plegic/severely paretic, 22.7% had moderate paresis, and 9.1% had mild paresis/normally. Regarding the type of spina bifida aperta, 72.7% of patients had myelomeningocele, and 27.3% had myeloschisis. Type 1 SCM was detected in 79.5% of patients, type 2 SCM in 13.6%, and type 1.5 SCM in 6.8%. Additionally, 93.2% had tethered cord/thickened-fatty filum terminale, 90.9% had posterior fusion defects, 77.3% had hydrocephalus, 68.2% had kyphoscoliosis, 65.9% had Chiari malformation, 54.5% had syringomyelia, 45.5% had intracranial pathologies other than hydrocephalus, and 4.6% had lipoma. CONCLUSION:Complex SCMs should not be viewed solely as a spinal pathology; they should be evaluated multidisciplinarily in the perioperative period in terms of anomalies accompanying spina bifida aperta. In these cases that are diagnosed at a younger age, the incidence of type 1 SCM increases, while the frequency of occurrence in the lumbar region decreases and increases in the thoracic region. Furthermore, it has been determined that additional anomalies accompanying spina bifida aperta occur more frequently with complex SCMs.
INTRODUCTION:Infant carriers (car seats, bouncy chairs) can cause injuries when used for other than their intended purpose. METHODS:We studied children aged 0-24 months with carrier related injuries reported to the Pennsylvania Trauma Outcome Study (PTOS) dataset (2001-2022 inclusive). RESULTS:There were 562 injured children, averaging 23 injuries per year. Mean age was 3.3 months; 54.3% were male. Most (82.7%) fell from an elevated surface; 88.7% fell an estimated 2-5 feet. Head injuries (intracranial injury/hemorrhage and/or skull fracture) were present in 85.6%. Admission Glasgow Coma Scores were most commonly 15 (79.1%); 7 had GCS <12. Average Injury Severity Score was 9.3 (range 1-30). Average length of stay was 1.4 days; 30% spent >1 day in the intensive care unit. Two children underwent cranial operations. There were no deaths, and 82.9% were discharged home. CONCLUSION:Falls in, or from, infant carriers are a significant public health concern. Education, advocacy, and changes in carrier design may help reduce the frequency of these injuries.
INTRODUCTION:The purpose of this article was to describe a case of an unusual congenital occipital bone defect in a pediatric patient and the corresponding neurosurgical management. CASE PRESENTATION:The authors present a case of a 2-week-old male referred for neurosurgical evaluation after occipital bony prominences were detected on a postnatal exam. The patient was born full-term via uncomplicated vaginal delivery and underwent a head ultrasound, which disclosed an occipital heterotopic ossification. Physical exam revealed dimpling bilaterally over bony prominences at the occiput. Computed tomography and magnetic resonance image confirmed symmetric exostoses without clear intracranial involvement. However, fibrous adhesions were noted extending through the dermis, suggesting dermal involvement likely secondary to the bony changes, although no definitive sinus tracts were identified. The patient was monitored for the first year of life with no symptoms or developmental concerns. At follow-up at 15 months of age, the bony prominences and overlying fat pad were noticeably enlarged, which prompted corrective surgery. The exostosis was excised to restore normal occipital contour, and excess fat and skin were removed. Pathology revealed cartilage, cortical and trabecular bone, hematopoiesis, and mild intramedullary fibrosis. The surgery was successful with no complications, and the patient had an uneventful recovery. Postoperatively, the patient continues to meet developmental milestones without neurological deficits or complications. CONCLUSION:This case highlights the surgical management of an unusual occipital exostosis in an asymptomatic pediatric patient. It underscores the importance of individualized preoperative planning, comprehensive imaging, and ongoing clinical monitoring to assess changes over time.
Background: Patients with epilepsy who do not respond to pharmacotherapy are often offered a noninvasive diagnostic workup to localize an epileptogenic focus that might be treated with resection, neuromodulation, or ablation. Yet in many cases, this evaluation fails to identify surgical candidates. Summary: Patients with tuberous sclerosis, periventricular nodular heterotopia, or polymicrogyria may have clearly visible lesions on MRI, but the resulting epileptogenic onset zones/networks are often too complex for scalp electroencephalography to decode. Similarly, seizures arising from the cingulate gyrus originate in deep structures that are inaccessible to noninvasive techniques. In post-traumatic epilepsy without a dominant lesion such as mesial temporal sclerosis, injury is often too diffuse to define a clear seizure-onset zone. Stereoelectroencephalography (sEEG), with its ability to map deep brain networks in detail, offers a unique solution for these challenging cases. Key Messages: In this review, we highlight how sEEG has expanded surgical options and provided hope for seizure freedom in patients once considered medically and surgically untreatable, and we aim to encourage further study into its potential applications.
INTRODUCTION:Foramen magnum stenosis (FMS) and ventriculomegaly are frequent in achondroplasia due to cranial base hypoplasia. While FMS can cause spinal cord compression, the optimal treatment strategy remains debated. We reviewed our single-center experience and explored factors influencing surgical decisions. METHODS:We retrospectively analyzed 18 children with achondroplasia evaluated between 2008 and 2024. MRI was used to assess FMS by anterior-posterior diameter and cerebrospinal fluid (CSF) area at the foramen magnum level. Ventriculomegaly was defined as an Evans Index ≥0.30. CT was used to evaluate foramen magnum morphology and synchondrosis fusion. Surgical indications were based on imaging findings of compression and intramedullary changes. RESULTS:The median age at initial imaging was 9.5 months. Thirteen patients underwent foramen magnum decompression (FMD) and 5 were managed conservatively. The surgical group showed significantly smaller craniocervical junction CSF spaces compared with nonsurgical cases (p < 0.05). Synchondrosis fusion occurred earlier in achondroplasia than in controls. Ventriculomegaly was present in 66%, but its severity did not correlate with FMD. All surgical cases achieved decompression without major complications. Of the 13 surgical patients, 9 were followed for more than 1 year (median follow-up: 122 months). Within this subgroup, 4 developed radiological bone regrowth with re-stenosis, but all remained asymptomatic and none required reoperation. CONCLUSIONS:FMS in achondroplasia poses major risks, yet its natural history and management remain unclear. Our findings support early imaging-based screening and timely intervention in cases with cord compression. While FMD effectively relieves compression, it does not address underlying ossification abnormalities, requiring continued surveillance. Premature synchondrosis fusion may play a key role, and future studies should consider combined surgical and medical approaches to improve outcomes.
Introduction: Primary fourth ventricle outlet obstruction (PFVOO) is a rare cause of obstructive hydrocephalus in children. Diagnosis often requires high clinical suspicion and advanced magnetic resonance imaging (MRI) sequences, and the optimal management remains a matter of debate. Case Presentation: We report a 3-year-old girl with unexplained tetraventricular hydrocephalus who presented with progressive macrocephaly, intermittent headaches, and atypical stereotyped head movements. She had previously undergone ventriculoperitoneal shunting in infancy, which failed after 18 months. High-resolution 3D-CISS MRI confirmed a patent aqueduct and a membranous obstruction at the foramen of Magendie, establishing the diagnosis of idiopathic PFVOO. An endoscopic third ventriculostomy (ETV) was performed uneventfully, and postoperative MRI confirmed ventricular size reduction. The patient remains clinically stable 2 years later, representing one of the longest pediatric follow-ups reported after ETV for PFVOO. Conclusion: PFVOO should be included in the differential diagnosis of unexplained tetraventricular hydrocephalus in children when conventional imaging is inconclusive. Advanced MRI sequences such as 3D-CISS are valuable for identifying subtle outlet obstructions. This case, extending the pediatric follow-up to 2 years, reinforces ETV as a safe and durable first-line treatment option in selected patients with PFVOO.
