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Iniencephalus clausus

Islam Badr, M.Sc.; Rasha Kamel, MD, Samah Aboelsaoud , M.Sc.; Hussam Ashoor, M.Sc., Hazim Hashim ,M.Sc.; Sameh Abdel Latif Abdel Salam, MD

Article Published: May 19, 2017
Islam Badr, M.Sc.*; Rasha Kamel, MD*, Samah Aboelsaoud , M.Sc. *; Hussam Ashoor, M.Sc. **, Hazim Hashim ,M.Sc.**; Sameh Abdel Latif Abdel Salam, MD***
* Fetal medicine unit, Cairo University, Egypt.
** El Hawamdeya General Hospital; Egypt.
** Radiology department, Kasr Alainy teaching hospitals, Cairo University, Egypt.
 
 
Iniencephaly which is a neural tube defect consists of occipital bone defect in association with rachischisis of cervical and thoracic vertebrae1. The neck is absent and the head is retroflexed with significant distortion in cervical and thoracic vertebrae1, 2. This neural tube defect is very rare but it is suggested that the incidence of iniencephaly is underestimated because of the misdiagnosis particularly when it occurs in association with complex malformations 1, 3, 4. Iniencephaly is much more common in females than males and can be associated with many fetal malformations1, 5. Arthrogryposis is sometimes associated with iniencephaly 6 . According to the presence or absence of encephalocele; iniencephaly is divided into iniencephalus apertus (with encephalocele) and iniencephalus clausus (without encephalocele) 1, 7. The list of associated malformations is large and includes CNS, GIT, chest, renal, cardiac, neuromuscular and skeletal anomalies 1. The most important anomaly to be considered in the differential diagnosis of iniencephalus clauses is Klippel-Feil syndrome which results from malsegmentation of cervical vertebrae in the stage of early development however neither severe retroflexion of the head nor other spine deformities will be present in Klippel-Feil syndrome2. 
 
 
Case report
 
A 29 year old G6P5 woman was referred to our unit at 23 weeks gestations due to the presence of a "complex congenital malformation" in a routine ultrasound. Her medical and obstetrics history was irrelevant with no consanguinity. Ultrasound examination revealed:
 
- Severe persistent retroflexion of the fetal head (star-gazing appearance).
- Marked deformity of the spine with severe lordosis and hyperextension of the cervico-thoracic segment with irregular fusion.
- Continuity of the mandibular skin with that of the chest.
- Contractures of both lower limbs which were fixed in flexion with talipes equinovarus deformity of both feet.
- The right upper limb was fixed in flexion beside the fetal head with clenched right hand.
- Bilateral hydronephrosis.
 
Based on the ultrasound findings our diagnosis was iniencephalus clausus (no associated encephalocele). Parents opted for termination of pregnancy after counselling. Our diagnosis was confirmed after birth. Karyotyping was performed due to the presence of associated anomalies particularly those in limbs and revealed normal male karyotype.
 
 
Images 1 and 2; video 1: show retroflexion of the head (star-gazing appearance). Note also the marked lordosis and the hyperextension of the malformed cervico-thoracic spine which shows irregular fusion. The occipital bone is fused with the back of the fetus.

Image 1
Image 2



Image 3; videos 2 and 3: marked lordosis with hyperextension of the malformed cervico-thoracic spine. Note also the distortion of the cervical spine.

Image 3

Videos 4-7; images 4 and 5: showing fetal face with absence of grossly noted abnormalities. The fetal mouth appeared frequently opened throughout the scan period with protrusion of tongue. Note the continuity of the mandibular skin with that of the chest.

Image 4
Image 5

Image 6; videos 8 and 9: the right upper limb was fixed in flexion beside the fetal head. The right hand is clenched with clinodactyly in the left hand.

Image 6

Images 7 and 8; videos 10 and 11: Show bilateral hydronephrosis. Inversion mode demonstrates the gall bladder (with Phrygian cap) and the hydronephrosis

Image 7
Image 8



Images 9, 10 and 11; videos 12, 13 and 14: contracture of the lower limbs were observed with both lower limbs fixed in flexion. Note also the bilateral talipes equinovarus with high arched foot and the sandal gap.

Image 9
Image 10
Image 11



Video 15: The fetus was male (there is established female tendency for iniencephaly).

Video 16: Normal bladder surrounded by the two umbilical arteries.

Videos 17, 18: Normal heart examination.

References:

1. Chen CP. Prenatal diagnosis of iniencephaly. Taiwan J Obstet Gynecol 2007; 46: 199-208

2. Tanriverdi EC, Delibas IB, Kamalak Z, Kadioglu BG, Bender RA. A fetus with iniencephaly delivered at the third trimester. Case Reports in Medicine 2015; Article ID 520715, 3 pages, 2015. doi:10.1155/2015/520715.

3. Sahid S, Sepulveda W, Dezerega V, Gutierrez J, Rodriguez L, Corral E. Iniencephaly : prenatal diagnosis and management. Prenat Diagn 2000; 20:202-205

4. Tonni G, Azzoni D, Panteghini M, Ventura A, Cavalli P. First trimester diagnosis of iniencephaly with fetal malformations and and triosomy 18: Report of a new case and gene analysis of folate metabolism in parents. Congenital Anomalies 2007; 47: 101-104

5. Tugrul S, Uludogan M, Pekin O, Uslu H, Celik C, Ersan F. Iniencephaly: prenatal diagnosis with postmortem findings. J. Obstet. Gynecol. Res. 2007; 33: 566-569

6. Pungavkar SA, Sainani NI, Karnik AS, Mohanty PH, Lawande MA, Patkar DP, Sinha S. Antenatal diagnosis of iniencephaly: sonographic and MR correlation: A case report. Korean J Radiol 2007; 8: 351-355

7. Lewis HL. Iniencephalus. Am J Obstet 1897;35:11–53.

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