Severe myelomeningocele in the fourth pregnancy of a 29-year-old woman: a case report

Neural tube defects represent a heterogeneous and complex group of congenital abnormalities affecting the central nervous system. These defects occur during embryogenesis as a result of the failure of the neural tube to close completely. A highly clinically significant form is myelomeningocele, often referred to as open spina bifida or spina bifida aperta. Delayed diagnosis presents considerable challenges, and folate deficiency is an important risk factor. This case reports a severe myelomeningocele located in the lumbosacral region of a female neonate, identified at 28-29 weeks' gestation during the only prenatal consultation of a 29-year-old woman who had three previous normal pregnancies and did not take folic acid (FA) supplementation. The delayed diagnosis contributed to the progression of degenerative and traumatic lesions in the neural tissue, leading to the development of Chiari malformation type II and hydrocephalus. These conditions had a profound impact on brain development, significantly increasing the severity of the case. Primary prevention through the periconceptional use of FA supplements has been shown in extensive research to significantly reduce the probability of neural tube defects, including myelomeningocele. For this reason, FA fortification programs as a public health measure have been implemented in many countries.