Myelocystocele Mimicking Myelomeningocele: A Case Report and Review of the Literature

BACKGROUND: Myelocystoceles, which are classified as closed neural tube defects, are usually covered by skin and rarely complicated by hydrocephalus. We encountered an unusual case of a terminal myelocystocele with hydrocephalus with clinical characteristics of a myelomeningocele. CASE DESCRIPTION: Severe hydrocephalus and a lumbosacral lesion were detected in the fetus of a gravid 34-year-old woman. Cesarean section was performed at 37 weeks. The neonate presented with a lumbosacral mass with a partial skin defect. As myelomeningocele was suspected, the neonate underwent surgery on the day of birth. The intraoperative findings pointed to a myelocystocele rather than a myelomeningocele. After insertion of a ventriculoperitoneal shunt, the neonate was discharged without any neurologic deficits. CONCLUSIONS: Presence of skin abnormalities, hydrocephalus, and lumbosacral mass strongly suggests a diagnosis of myelomeningocele. However, such cases should be differentiated from myelocystocele, especially when associated with severe hydrocephalus.