Surgical Outcome in an Iniencephaly Survivor: Case Report and Review of the Literature

Abstract

Background: Iniencephaly is an extremely rare congenital neural tube defect (NTD) involving the occipital region with rachischisis of the cervicothoracic spine and fixed retroflexion deformity of the head. It affects an estimated 0.1-10 out of 10,000 pregnancies and carries a dismal prognosis. Most affected children are either stillborn or perish within a few hours of delivery. Pathological and postmortem studies of iniencephaly significantly outnumber the limited amount of literature available on patients surviving with this disorder. To date, surgical repair has been attempted in only 3 of the 8 patients with iniencephaly who have survived long-term. Thus, a huge knowledge gap remains regarding the neurosurgical nuances and postsurgical outcomes in iniencephaly.

Case description: A 4-year-old girl presented with soft, fluctuant swelling in the suboccipital region and was subsequently diagnosed with iniencephaly. She underwent a successful surgical repair of the encephalocele with dural plication. No recurrence of swelling or new neurologic deficits were noted at a 1-year follow-up.

Conclusion: Iniencephaly is a complex NTD associated with high perinatal mortality that requires a vigilant antenatal diagnosis. Surgical repair may be attempted in the lucky few survivors after a thorough evaluation of the anomaly.

Keywords: Encephalocele; Iniencephaly; Outcome; Surgery; Survivors.