An Iniencephaly Clausus as a Rare Form of Complex Neural Tube Defect Reported from Rural Ethiopia: a case report: Iniencephaly Clausus

Abstract

Background:  Iniencephaly is a rare and severe neural tube defect characterized by a combination of significant malformations of the skull and spine, resulting in the head being severely retroflexed (bent backward) on the neck. Its prenatal diagnosis may be suspected during the first-trimester scan and can be confirmed from the early second trimester onwards. Unfortunately, most of fetuses are stillborn and others die after few hours of life.

Case summary: This case presents a rare neural tube defect known as iniencephaly in a 30-year-old woman, Para II with one previous abortion, from Western Ethiopia. The patient was referred to Wollega University Comprehensive Specialized Hospital with a diagnosis of second-trimester pregnancy complicated by severe anaemia, which is secondary to recurrent malaria attacks. The ultrasound examination revealed iniencephaly, leading to the patient being counseled regarding an elective termination of the pregnancy. After stabilizing the patient with a blood transfusion, the termination was carried out using 200 mg of mifepristone administered orally, followed by sublingual misoprostol.  On the third day after the termination, the patient was discharged with recommendations to undergo a preconception evaluation and to take folic acid before and during her next pregnancy.

Conclusion:  Prenatal diagnosis and management of iniencephaly pose significant challenges, especially in resource-limited settings where expertise in prenatal scanning is scarce. Consequently, it is advisable to identify women with risk factors for neural tube defects and to conduct focused and early ultrasound scans to diagnose this fatal anomaly.