Surviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.

Abstract

Iniencephaly is a rare neural tube defect (NTD) characterized by deformities in the occiput and inion, along with rachischisis in the cervical and thoracic spine, resulting in the head appearing in retroflexion. This report details the case of a female newborn who underwent surgery for an encephalocele. She survived up to 6 months, exhibiting good overall health, although she displayed physical abnormalities, including facial deformity, a short neck, and minor spasms in all limbs. Both cardiovascular and abdominal assessments remained stable, and imaging revealed defects in the occipital bone, a large cephalocele, and spinal dysraphism. Although iniencephaly is generally incompatible with life, a few cases have been reported otherwise. Our patient, one of these notable exceptions, remains alive at 6 months old, possibly due to the lack of major vascular deformities. However, she does exhibit significant psychomotor retardation.