Myelomeningocele in Slovenia: An 18-Year National Cohort Study

Background: Myelomeningocele (MMC) is a severe neural tube defect resulting from primary neurulation failure. Despite advanced multidisciplinary paradigms, long-term morbidity remains substantial. Population-based longitudinal data from small European cohorts are scarce. This study evaluates long-term clinical and functional outcomes within a complete national cohort in Slovenia. Methods: A retrospective cohort study was conducted on all children born with MMC in Slovenia between 2007 and 2023. Patients were managed via a centralized, standardized multidisciplinary program. Phenotypic severity was stratified by anatomical lesion levels, and outcomes were assessed using standardized functional measures. Results: Over an 18-year period, 32 children were treated (prevalence: ~1 per 10,000 live births; mean follow-up: 13.2 years). All underwent anatomical closure within 24 h of birth. Hydrocephalus developed in 71.8% (n = 23), with 65.6% requiring ventriculoperitoneal shunting. Independent ambulation was achieved by 28.1%, while 46.8% were wheelchair-dependent and paraplegic. Neurogenic bladder dysfunction occurred in 87.5%. Subgroup analysis demonstrated that thoracolumbar lesions were significantly associated with lower ambulation rates and higher shunt dependency compared to lumbosacral lesions (p < 0.05). Long-term survival was 96.9%. Conclusions: This study represents the first comprehensive national analysis of myelomeningocele outcomes in Slovenia. Despite the relatively small number of patients, complete national coverage and centralized multidisciplinary management provide a unique overview of long-term outcomes. The findings demonstrate that outcomes achieved within the Slovenian healthcare system are comparable to those reported internationally, thereby establishing an important national benchmark for future evaluation of preventive measures and evolving treatment strategies.