Late diagnosis iniencephaly with spina bifida

Dilek Marangoz Chapman


Herein a rare case of iniencephaly combined with spina bifida is reported, which was diagnosed late because the G6P5 mother had not attended hospital for first trimester anomaly scans and alpha-fetoprotein measurement. A woman aged 33 years who was 38 weeks pregnant presented for ante-natal follow-up. Her clinical results were normal but abnormalities including polyhydramnios, retroflexion of the head with absence of neck, acrania, and severe growth retardation were observed in the fetus. The infant was delivered through Cesarean section and died shortly after birth. The results of a gross examination revealed acrania, iniencephaly, spina bifida, and an imperforated anus. Iniencephaly is a rare and fatal neural tube defect characterized by extreme retroflexion of the head and severs distortion of the spine. This case report underlines the importance of first trimester anomaly scans and alpha-fetoprotein measurement.


Iniencephaly, Spina bifida

Full Text:



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

Nishimura H, Okamoto N. ıniencephaly. In: Vinken PJ, Bruyn GW,eds. Handbook of clinical neurology, vol.30. New York: North-Holland Biomedical Press. 1977:257-68.

Pungavkar SA, Sainani NI, Karnik AS et al. “Antenatal diagnosis of iniencephaly: Sonographic and MR correlation: a case report”. Korean Journal of Radiology. 2007;8:351-5.

David N,John P. Gahan, Dolores P, Gianluigi Pilu. Diagnostic imaging of fetal anomalies. 2003;315-16

Gardner WJ. Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and minor movements: overdistention of the neural tube. Child Brain. 1979;5;361-9.

Morocz I, Szeifert T, Molnar P, et al. Prenatal diagnosis and pathoanatomy of iniencephaly. Clin Neuropathol. 1986;30:81-6.

Meizner I, Bar-Ziv J. Prenatal ultrasonic diagnosis of a rare case of iniencephaly apertus. J Clin Ultrasound. 1987;15:200-03.

Romero R, Pilu G, Jeanty P, et al. Prenatal diagnosis of congenital anomalies. Norwalk, CT: Appleton & Lange. 1988:64-7.

Sahid S, Sepulveda W, Dezerega V, et al. Iniencephaly: prenatal diagnosis and management. Prenat Diagn. 2000;20:202-05.

Shoham Z, Caspi B, Chemke J, et al. Iniencephaly: prenatal ultrasonographic diagnosis- a case report. J Perinat Med. 1988;16:139-43.

Gunderson CH, Greenspan RH, Glaser G, et al. The Klippel-Feil syndrome: genetic and clinical reevalualion of cervical fusion. Medicine. 1967;46:491-512.

Gilmour JR. The essential identity of Klippel-Feil syndrome and iniencephaly. J Pathol. 1941;53:117-31.

Sherk HH, Shut L, Chung S. Iniencephalic deformity of the cervical spine with Klippel-Feil anomalies and congenital evaluation of the scapula.

Lemire, RJ, Beckwith, B, Shephard TH.Iniencephaly and anencephaly with spinal retroflexion: a comparative study of eight human specimens. Teratology. 1972;6:27-36.

Katz VL, Aylsworth AS, Albright SG. Iniencephaly is not uniformly fatal. Prenat Diag. 1989:595-9.