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Background Spinal dysraphism is a congenital condition requiring lifelong management to prevent long-term complications. Our institution is a referral center for congenital malformations in the Indian Ocean, particularly serving Réunion Island, Mayotte, Madagascar, and the Comoros. The aim of this study was to describe a cohort of children with spinal dysraphism followed at our center. Methods This retrospective cohort study included consecutive patients diagnosed with spinal dysraphism who were born between January 1, 2006 and December 31, 2022, and followed at our institution. Data were extracted from electronic records and covered the antenatal period, delivery, initial management and follow-up. Results Over the 17 years of the study period, 121 patients were included. The annual mean incidence was 2.1/10,000 live births and remained stable throughout the study period. Among the 121 patients, 82 had a prenatal diagnosis, and 69 underwent a proactive management. Proactively managed patients originated from Réunion Island ( n  = 41), Mayotte ( n  = 12), the Comoros ( n  = 12) and Madagascar ( n  = 3). Surgical closure was performed in all patients with open defects, and a ventricular shunt was used in half of the patients. The median follow-up duration was 4.2 years. The mortality rate was 4.3%, and 42% of patients were lost to follow-up. At least one clinical review was conducted by a neurosurgeon in 85% of cases, a urologist in 71%, or an orthopedic specialist in 49%. Neurodevelopmental delay was observed in all patients who required a shunt placement. Ambulation was achieved in 39% of the patients. Conclusions The incidence of spinal dysraphism remained stable over time in our population. The monitoring of patients was not optimal, but the remote origin of some of our patients must be taken into account. Further studies should be performed to evaluate continence and long-term complications.

Background Spinal dysraphism (SD) requires lifelong multidisciplinary follow-up to prevent complications and optimize functional outcomes. In geographically fragmented healthcare systems, continuity of care may be challenging, particularly when patients cross regional or national borders to access specialized services. This study aimed to describe care trajectories and identify factors associated with optimal follow-up among children with SD managed in the southwestern Indian Ocean region. Methods We conducted a retrospective cohort study including children with SD who received active postnatal surgical management in the regional referral center of Reunion Island. Maternal, perinatal, clinical, and geographic characteristics were collected from hospital records. Optimal follow-up was defined according to the institutional multidisciplinary follow-up protocol. Results A total of 92 mother–infant dyads were included. Most pregnancies originated in Reunion Island (62.0%), followed by Mayotte (18.5%), the Comoros (16.3%), and Madagascar (3.3%). Prenatal diagnosis was established in 47.8% of pregnancies but varied substantially across territories. Surgical closure of the spinal defect was performed at a median age of 3 days, and ventriculoperitoneal shunt placement was required in 44.6% of patients. Overall, 39 patients (42.4%) were lost to follow-up. Optimal follow-up was achieved in only 13 patients (14.1%). Geographic factors were strongly associated with follow-up outcomes. Patients residing in Reunion Island were significantly more likely to achieve optimal follow-up than those living outside the island ( p  = 0.04). In contrast, clinical characteristics—including lesion level, surgical timing, ventricular shunt placement, and functional outcomes—were not associated with follow-up status. Conclusion Continuity of care for children with SD in the southwestern Indian Ocean region is strongly influenced by geographic and health system factors. Despite successful initial surgical management, long-term follow-up remains limited for many patients living outside Reunion Island. Strengthening regional healthcare coordination and cross-border care pathways may help reduce disparities in access to long-term multidisciplinary care.

BackgroundArteriovenous shunts below conus medullaris (AVS-BC) are understudied, particularly those associated with spinal dysraphism. This study aimed to refine the classification and management of AVS-BC.MethodsA retrospective analysis of patients with AVS-BC from two centers over two decades was performed, focusing on clinical presentations, angioarchitecture, and treatment outcomes. AVS-BC was classified into eight subtypes based on angioarchitecture, dural relation, and spinal dysraphism presence. Treatment efficacy was evaluated using changes in the modified Aminoff and Logue’s Scale and the modified Denis Pain and Numbness Scale.ResultsThe cohort included 140 patients (85.0% male) with a median onset age of 54 years (IQR 47–62). Spinal dural arteriovenous fistula was the most prevalent subtype (32.1%). AVS-lipoma (58.8%) and AVS with spina bifida/meningocele (75.0%) were mainly located in S3–S5, while others were above S2 (p<0.001). Most AVS-BCs were supplied by the internal iliac artery (37.1%) and drained intradurally (96.4%). Venous lakes were common in spinal epidural arteriovenous fistula (88.2%) and paravertebral arteriovenous fistula (100.0%). Larger drainage veins (>2.0 mm) were found in paravertebral arteriovenous fistula (PVAVF) (50.0%) and AVS with spina bifida/meningocele (AVS-SBD) (50.0%) (p=0.012). Embolization was the preferred treatment (50.7%), achieving a 97.1% anatomical cure rate. Despite functional improvements, 25% experienced deterioration during a median follow-up of 47 months (IQR 20–113).ConclusionsThe refined AVS-BC classification revealed significant angioarchitectural variations. Tailored treatment strategies, especially embolization, resulted in high anatomical cure rates, though post-treatment deterioration warrants further investigation.

Background Spinal arteriovenous shunts and spinal dysraphism both have a different underlying cause, disease spectrum and developmental process; hence, these entities rarely coexist in a patient. Here, we reported four cases of coexistence of adult-onset spinal arteriovenous shunt and spinal dysraphism in the same patient along with their therapeutic embolisation. Additionally, we conducted an extensive literature review to explore the potential theories and explanations for this coexistence. Methods We retrospectively searched our imaging database from January 2015 to December 2023 to identify instances of spinal arteriovenous shunts occurring in patients with spinal dysraphism or neural tube defect disorders. MRI and angiographic imaging, clinical presentation, treatment and follow-up were analysed . Results Four patients with arteriovenous fistula/shunt and spinal dysraphism were included in the study. The mean age of presentation was 35.5 years. The most common symptoms were sensory disturbance and motor weakness. Arteriovenous fistula or shunt was located at the lumber region in one patient and at the sacral region in three cases. Two patients have a prior history of surgery in first decade. Two patients were treated with glue embolisation. The internal iliac artery was a common feeder in all cases. Conclusions The rare coexistence of neural tube defects with spinal vascular abnormalities should be considered when assessing a middle-aged patient with neural tube defect and myelopathy. Correct diagnosis can help in treatment planning and thereby improve prognosis.

Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero , resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60–70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa Spina bifida is a congenital disorder caused by failed closure of the neural tube, which leads to sensory, motor and cognitive dysfunction. Copp et al . discuss the prevalence and pathogenesis of spina bifida, as well as preventive actions, diagnostic methods and treatment options.

Background/Aim: We conducted a randomized controlled trial to investigate whether minimally access spine surgery (MASS) is less morbid than open surgery (OS) in patients with metastatic spinal cord compression (MSCC). Patients and Methods: A total of 49 MSCC patients were included in the trial. The outcome measures were bleeding (L), operation time (min), re-operations and prolonged wound healing. Results: The median age was 67 years (range=42-85 years) and 40% were men. The peri-operative blood loss in the MASS-group was significantly lower than that in the OS-group; 0.175L vs. 0.500L, (p=0.002). The median operation time for MASS was 142 min (range=72-203 min) vs. 103 (range=59-435 min) for OS (p=0.001). There was no significant difference between the two groups concerning revision surgery or delayed wound healing. Conclusion: The MASS technique in MSCC patients is associated with less blood loss, but a longer operation time when compared to the OS technique.

Terminal myelocystocele (TMC) is a rare form of spinal dysraphism which arises due to aberration in the secondary neurulation process involving the caudal cell mass. Terminal myelocystocele has been defined by Pang et al. based on essential and non-essential features. One of the non-essential features includes non dysraphic lipomas which do not tether to the neural placode. We are presenting two cases which meets all the essential criteria outlined by Pang et al. for TMC but also show the presence of a lipomatous component tethering to the neural placode, similar to a dysraphic lipoma. Through this article, we want to showcase a subset which represents “true” terminal lipomyelocystocele (TLMC), bridging the spectrum of spinal dysraphism between TMC and lipomyelomeningocele (LMM).

Background. Birth defects remain a significant source of worldwide morbidity and mortality. Strong scientific evidence shows that folic acid fortification of a region’s food supply leads to a decrease in spina bifida (a birth defect of the spine). Still, many countries around the world have yet to approve mandatory fortification through government legislation. Objectives. We sought to perform a systematic review and meta-analysis of period prevalence of spina bifida by folic acid fortification status, geographic region, and study population. Search methods. An expert research librarian used terms related to neural tube defects and epidemiology from primary research from 1985 to 2010 to search in EMBASE and MEDLINE. We searched the reference lists of included articles and key review articles identified by experts. Selection criteria. Inclusion criteria included studies in English or French reporting on prevalence published between January 1985 and December 2010 that (1) were primary research, (2) were population-based, and (3) reported a point or period prevalence estimate of spina bifida (i.e., prevalence estimate with confidence intervals or case numerator and population denominator). Two independent reviewers screened titles and abstracts for eligible articles, then 2 authors screened full texts in duplicate for final inclusion. Disagreements were resolved through consensus or a third party. Data collection and analysis. We followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses, or PRISMA, abstracting data related to case ascertainment, study population, folic acid fortification status, geographic region, and prevalence estimate independently and in duplicate. We extracted overall data and any subgroups reported by age, gender, time period, or type of spina bifida. We classified each period prevalence estimate as “mandatory” or “voluntary” folic acid fortification according to each country’s folic acid fortification status at the time data were collected (as determined by a well-recognized fortification monitoring body, Food Fortification Initiative). We determined study quality on the basis of sample representativeness, standardization of data collection and birth defect assessment, and statistical analyses. We analyzed study-level period prevalence estimates by using a random effects model (α level of < 0.05) for all meta-analyses. We stratified pooled period prevalence estimates by birth population, fortification status, and continent. Results. Of 4078 studies identified, we included 179 studies in the systematic review and 123 in a meta-analysis. In studies of live births (LBs) alone, period prevalences of spina bifida were (1) lower in geographical regions with mandatory (33.86 per 100 000 LBs) versus voluntary (48.35 per 100 000 LBs) folic acid fortification, and (2) lower in studies of LBs, stillbirths, and terminations of pregnancy in regions with mandatory (35.22 per 100 000 LBs) versus voluntary (52.29 per 100 000 LBs) fortification. In LBs, stillbirths, and terminations of pregnancy studies, the lowest pooled prevalence estimate was in North America (38.70 per 100 000). Case ascertainment, surveillance methods, and reporting varied across these population-based studies. Conclusions. Mandatory legislation enforcing folic acid fortification of the food supply lags behind the evidence, particularly in Asian and European countries. This extensive literature review shows that spina bifida is significantly more common in world regions without government legislation regulating full-coverage folic acid fortification of the food supply (i.e., Asia, Europe) and that mandatory folic acid fortification resulted in a lower prevalence of spina bifida regardless of the type of birth cohort. African data were scarce, but needed, as many African nations are beginning to adopt folic acid legislation.

Introduction In Ethiopia approximately 3,200,000 babies are born annually and 41.09 per 10,000 live births are affected by spina bifida. Hydrocephalus (HCP) is another common pediatric neurosurgical condition with studies in Ethiopia showing the most common etiology is post spina bifida closure. The out-of-pocket expense (OOPE) and indirect expense of patients treated surgically for spina bifida and hydrocephalus during the first year of life were assessed. Methods A prospective hospital-based study was done on patients treated surgically for spina bifida and HCP in two university-affiliated hospitals, between April 1st, 2022, and April 1st, 2023. Data on direct and indirect expenses were collected during inpatient care and follow-up. Catastrophic health expenditure (CHE) was assessed, defined as total expenditure exceeding 10% of the total annual household expenditure. Result A total of 245 patients were eligible for analysis. The median annual total expenditure of households for treatment was ETB 11,510.00 with ETB 5700.00 being indirect expenditure. Forty-nine percent of the households suffered CHE. In multivariate analysis, the factors which were found to have a statistically significant association with CHE were the hospital where the patient received the treatment, the household’s wealth quintile, the place of residency, and pre-admission duration of stay. Conclusion Our study revealed a high CHE in households with spina bifida and HCP. We recommend working on primary prevention of spina bifida, expanding surgical services regionally to minimize costs associated with travel for surgical care, and reducing pre-admission duration of stay by improving evaluation and investigations at outpatient clinics.

Although studies suggest that young adults with spina bifida (YASB) often avoid important daily activities (ADL) due to urinary (UI) and fecal (FI) incontinence, no research has prospectively examined how often ADL avoidance occurs, or the context in which it occurs. In this paper, we used ecological momentary assessment (EMA) over 30 days to describe: 1) the frequency of avoidance; 2) the activities YASB most commonly avoid; and 3) preliminary association of daily avoidance with affect, incontinence anxiety and health-related quality of life (HRQoL). As part of a larger 30-day prospective study designed to understand the incontinence in adults with SB (N = 89), participants completed an end-of-day EMA tracking daily ADL avoidance on days when they were worried about possible UI or FI and on days when they had actual UI or FI. Additional day-level measures were: affect and incontinence anxiety. HRQoL was reported in beginning- and end-of-study surveys. We drew a subsample of YASB participants (18–27 years; N = 23 of total 88 participants). ADL avoidance was most frequent with actual FI (20.5%) and least frequent with worry about FI (3.5%, p = 0.02) (UI worry: 8.3; actual UI: 8.9%, p = 0.546). The most common ADL avoided were eating, drinking and spending time with family/friends. Negative mood and incontinence anxiety were significantly higher on days with all types of avoidance. Higher baseline HRQoL was associated with fewer in-study ADLs avoided, which were in turn associated with higher end-of-study HRQoL. Our data suggest that YASB avoid key activities of daily living (e.g., eating, drinking, seeing family/friends) both when they worry about possible incontinence that may but does not occur, and when they experience actual incontinence. Tailored interventions addressing actual incontinence and worry about possible incontinence incorporating daily mood or incontinence anxiety may minimize ADL avoidance and its impact on long-term HRQoL.