PP-14 Case report of a rare form of neural tube defect iniencephaly with diaphragmatic hernia

Objective

Musculoskeletal anomalies and neurological anomalies are the most common causes of pregnancies terminated due to congenital anomalies.[1] Iniencephaly is a rare neural tube defect characterized by the absence of the neck and excessive retroflexion of the head due to spinal deformities .[2] Iniencephaly is seen with a variable deficiency of the occipital bones, resulting in an enlarged foramen magnum; partial or complete absence of cervical and thoracic vertebrae and uneven fusion of existing ones, accompanied by uneven closure of the vertebral arches and trunks; marked shortening of the spine due to marked lordosis and hyperextension of the malformed cervicothoracic spine; It is characterized by an upturned face and chin skin that continues directly with the chest due to the absence of neck.[2] Although the etiology is not clearly known, it has been stated that genetic and environmental factors are effective in the formation of the malformation. Low socioeconomic level, obesity, low parity, folic acid deficiency and the use of some drugs such as sulfonamides and tetracyclines are among the environmental risk factors that have been shown.[1-2] Its incidence has been reported to be approximately 0.1-10:10000.[3] Our aim with this case report is to share the antenatal and postnatal results of an iniencephaly case who applied to our clinic at the 20th gestational week.

Methods

Computer-based and ultrasonography records of the case with multiple anomalies who applied to the Perinatology outpatient clinic of Cemil Taşçıoğlu City Hospital at the 20th week of pregnancy were retrospectively scanned from the hospital software and the history of the ultrasonography device. Fetal ultrasonography examination was performed using Mindray Resona 7 device and its 1.2-6 MHz convex abdominal probe.

Case

28-year-old G3P2 patient was referred to us from an external center due to the suspicion of neural tube defect. In her anamnesis, it was learned that she was a first-degree relative with her husband and she had a history of intrauterine mort fetus due to non-immune hydrops fetalis in his first parity. She did not use folic acid in the preconceptional period and did not have 1st and 2nd trimester screening tests. In the ultrasonography performed on the patient, it was observed that the fetal head was in a hyperextension position, the occipital bone and cervical and thoracic vertebrae were open, and fetal head circumference could not be measured. It was observed that the stomach herniated to the thorax. Other biometric measurements were compatible with 20 weeks, the amniotic fluid was normal according to the week, and the placenta appeared natural. In the fetal echocardiography of the patient, it was observed that the heart was pushed to the right due to congenital left diaphragmatic hernia and ventricular septal defect. (Figure 1). The patient and her husband were informed about the existing anomalies, possible prognosis and amniocentesis. After amniocentesis, no pathological changes were observed in the array result. Termination was made by the decision of the family. In the histopathological examination performed after termination, abnormal findings in a 258-g male phenotype fetus were observed in the neck region in severe hyperextension, and the neck was short, edematous, thick and immobile. The brain, skull, and most of the scalp were not formed. Eyeballs were protruded outward, nose was flattened and macroglossia was observed (Figure 2). Dropped ear was seen. There is a defect of 5x4 cm in the head, covering the entire scalp and calvarium and extending to the cervical and thoracic vertebrae, creating a hyperextension in the neck, and the meninges and neural tissues were protruded in this area (Figure 3). The heart was seen in the right thoracic cavity. The left lung was observed to be deviated to the right. A space-occupying lesion (stomach?) measuring 4x2.5x2.5 cm, filling the left chest cavity and extending into the abdominal cavity, was observed. The spleen was observed in the apex of the left chest cavity over this lesion. Ventricular septal defect was observed in the heart. The patient, who had no bleeding or complaints on the 1st day after termination, was discharged with recommendations.

Results

Ininencephaly is a rare, complicated form of neural tube defect that requires a careful obsteteric approach. Few survivors have been reported in this form of neural tube defect with a poor prognosis.[1,4] The case we presented showed that congenital diaphragmatic hernia and cardiac anomalies are among the anomalies that may accompany iniencephaly cases.

Conclusion

In such cases, which are mostly incompatible with life, patients should be discussed in detail about the prognosis and folic acid use should be encouraged in the preconceptional period for the next pregnancies of these patients.

Keywords

Iniencephaly; neural tube defect; congenital diaphragmatic hernia; ventricular septal defect, prenatal ultrasonography.

1. Seçkin, K. D., Kadiroğulları, P., Yücel, B., Karaaslan, O., & Yıldırım, G. (2016). An iniencephaly case diagnosed in the first trimester and review of the literature.
2. Practice Bulletin No. 187: Neural Tube Defects. Obstet Gynecol. 2017 Dec;130(6):e279-e290. 
3. Khatri, Deepak; Gosal, Jaskaran S.; Joseph, Jeena; Das, Kuntal Kanti; Bhaisora, Kamlesh Singh; Kumar, Raj (2019). Surgical outcome in Iniencephaly survivor: A case report and review of the literature. World Neurosurgery, (), S1878875019314792–. 
4. Arı, S. A., Ökmen, F., Hortu, İ., Akdemir, A., & Ergenoğlu, A. M. (2018). Üçüncü trimesterda nadir görülen iniensefali olgusu: Literatür ve yönetim. Ege Tıp Dergisi, 57(3), 181-183.

	File/Dsecription
	Fig.1 Congenital diaphragmatic hernia and ventricular septal defect in the prenatal period
	Fig.2 Superior and anterior view of the terminated fetus
	Fig.3 Neural tissues protruding outward, posterior and lateral view