Korean J Radiol.  2007 Aug;8(4):351-355. 10.3348/kjr.2007.8.4.351.

Antenatal Diagnosis of Iniencephaly: Sonographic and MR Correlation: A Case Report

• Pungavkar
• Sainani NI
• Karnik AS
• Mohanty PH
• Lawande MA
• Patkar DP
• Sinha S

• KMID: 1110734
• DOI: http://doi.org/10.3348/kjr.2007.8.4.351

Abstract

Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.

Keyword

Brain, abnormalities; Brain, MR; Brain, US

MeSH Terms

Adult
Arthrogryposis/diagnosis
Clubfoot/diagnosis
Female
Humans
Magnetic Resonance Imaging
Neural Tube Defects/*diagnosis
Pregnancy
*Prenatal Diagnosis
Ultrasonography, Prenatal

Figure

• 

  Fig. 1 Ultrasonography reveals the short fetal neck with a hyper-extended cervical spine (straight arrow) and upturned star-gazing face (curved arrow).

• 

  Fig. 2 Ultrasonography shows the enlarged fourth ventricle (long white arrow) with normal lateral ventricles (small white arrow).

• 

  Fig. 3 Fusion of the occiput with upper cervical region (white arrow) is demonstrated on ultrasonography.

• 

  Fig. 4 Club foot is visualized on US (A) and MR imaging (B) (white arrows).

• 

  Fig. 5 MR image reveals the normal supratentorial brain of fetus II, except for mild unilateral colpocephaly (white arrow).

• 

  Fig. 6 MR image reveals the short fetal neck, hyper-extended cervical spine (straight arrow) and upturned face (curved arrow) of fetus II.

• 

  Fig. 7 MR image reveals the enlarged 4th ventricle of fetus ll, which communicates with the cisterna magna (straight arrow) with a split brainstem extending to cervico-medullary junction.

• 

  Fig. 8 MR image reveals a widened upper spinal canal (straight arrow) with a normal distal spine.

Reference

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

2. Saint-Hilaire IG. Iniencephalus. Histoire des Anomalies de l'Organisation. 1836. Vol. 2. Paris: Bailliere;308–310.

3. Nyberg DA, McGahan JP, Pretorius DH, Pilu G. Diagnostic imaging of fetal anomalies. 2003. Philadelphia: Lippincott Williams & Wilkins;315–316.

4. Jayant K, Mehta A, Sanghvi LD. A study of congenital malformations in Mumbai. J Obstet Gynaecol India. 1961. 11:280–294.

5. Lemire RJ, Beckwith JB, Shepard TH. Iniencephaly and anencephaly with spinal retroflexion, a comparative study of eight human specimens. Teratology. 1972. 6:27–36.

6. Bhandari B, Tak SK, Mehta R, Agrawal RK. Iniencephaly with several rare associated anomalies. Indian Pediatr. 1982. 19:722–724.

7. Huppert BJ, Brandt KR, Ramin KD, King BF. Single-shot fast spin-echo MR imaging of the fetus: a pictorial essay. Radiographics. 1999. 19:s215–s227.