Cervical myelocystocele: prenatal diagnosis and therapeutical considerations

Abstract

Background: Cervical myelocystocele (CMC) is a very rare congenital malformation and belongs to the spectrum of skin-covered (occult) dysraphisms. Only 15 cases have been so far reported throughout the literature. We report the first case of CMC whose diagnosis was established prenatally by ultrasound imaging (US) followed by fetal magnetic resonance imaging (MR).

Case history: A 35-year-old woman was referred for further investigations following prenatal assessment of a fetal cervical mass observed on routine US during pregnancy. Fetal karyotype was normal. Fetal MR confirmed the ultrasonographic findings and led us to strongly suspect the diagnosis of CMC. The newborn was operated on 2 months after birth. The goal of surgical procedure was to remove the malformation and to obtain an untethering of the spinal cord. Twelve months later, the child is still neurologically intact.

Discussion: We discuss embryogenesis, different subtypes, associated malformations, and surgical strategy associated with myelocystoceles.

Conclusions: This case adds to the existing literature in that it shows for the first time antenatal images of this rare condition and discusses treatment and follow-up implications.