Abstract

Myelomeningocele (MMC) is one of the most common congenital anomalies in humans, with a high morbidity and mortality burden. Its causes are multifactorial, the most prominent factor being maternal folate deficiency. In Chile, the prevalence is 4.4 per 10,000 births and there are no published data on the clinical and sociodemographic characteristics of people with MMC in the country. Objective: To describe clinical and sociodemographic aspects in a sample of patients with MMC. Patients and Method: Descriptive cross-sectional study of a sample of 200 Chilean patients with MMC and their parents, who were administered two surveys: one on perinatal sociodemographic data, and another on health data of the participant, including level of the lesion, time of diagnosis, ability to walk, and complications. Results: Most of the patients with MMC were female (55%), had the lesion under T12 (83%), were diagnosed prenatally (63.5%), and were able to walk (71.3%), although with assistive devices. Only 15% had in utero MMC repair. The most frequent complications associated with MMC were neurogenic bladder (74%), hydrocephalus (74%), and Chiari II malformation (36%). Only 12% of mothers reported using folic acid as a preconception supplement. Conclusions: The data presented provide information on the sociodemographic and clinical conditions of Chilean patients with MMC and their families. It is expected that studies like this one and other prospective ones with larger samples will contribute to the design of health strategies for the comprehensive and timely management of patients with MMC in Chile. © 2025, Sociedad Chilena de Pediatria. All rights reserved.