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

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.

Early diagnosis of iniencephaly: a case report with review of literature

“…1 The word Inien is derived from the Greek word "Inion" which means nape of the neck. Lewis has classified Iniencephaly into iniencephaly apertus and iniencephaly clausus, according to the presence of encephalocele.…”

Prenatal diagnosis of a rare case of iniencephaly apertus

“…9 Previous delivery of iniencephalic fetus is associated with 1-5% risk of recurrence in subsequent pregnancies. 5 Herein, we present a rare case of iniencephaly apertusaccidentally diagnosed at 22 weeks gestation in apparently healthy pregnant woman.…”

“…The other one with absent encephalocele is called iniencephaly clausus. 5 Cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations are other additional defects seen in these cases. 6 Iniencephaly is not a genetic disease; however, the exact etiology for its occurrence is still unknown.…”

Late diagnosis iniencephaly with spina bifida

“…Other risk factors include maternal obesity and diabetes. 3 This case report underlines the importance of first trimester anomaly scans and alpha-fetoprotein measurement.…”

“…[1][2][3] Iniencephaly is more severe than spina bifida but belongs to the same group of neural tube defects. The defects in iniencephaly create extreme retroflexion of the head and distortion of the spine, which results with infants having a "star gazing" appearance.…”