Iniencephaly: radiologic and pathomorphologic perinatal observation

Abstract

Iniencephaly (IE) is a rare neural tube malformation involving severe head retroflexion and deformity of the spine. IE is typically accompanied with other congenital abnormalities and carrying a poor fetal prognosis. This report presents radiological findings in a rare case of IE associated with multiple malformations of the skull, spine, face, heart, and body. A 44-year-old pregnant female underwent an obstetric ultrasound examination on the 26th week of gestation followed by fetal magnetic resonance imaging on the 36th week. Imaging revealed complex developmental anomalies, which led to the diagnosis of IE with a large cervical meningocele, occipital bone defect, spina bifida of the cervical vertebrae, multiple malformed vertebra, deformed face, coarctation of the aortic arch, and hypoplastic lungs. Based on these findings, a decision to terminate pregnancy was made. Pathological examination of the fetus showed close agreement with imaging. The presented case underscores the importance of multimodal imaging for clinical decision making in the management of complex neural tube malformations.

Keywords

• Iniencephaly
• Pathomorphology
• Fetal magnetic resonance imaging
• Prenatal diagnosis