2007-07-31-08 Unilateral anophthalmia and schizencephaly © Cuillier www.thefetus.net/
Unilateral anophthalmia and schizencephaly
M. Deshayes, MD*; P. Lemaire*; Fabrice Cuillier, MD**; J. Travers***; Bossolo, MD**.
* Sonographer, Moufia"s street, 97400 Saint-Denis, Ile de la Réunion, France;
** Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
*** Department of Radiology, Hôpital Félix Guyon, 97400 Saint-Denis, Ile de la Réunion, France.
A woman (G2P1), from a nonconsanguineous couple, was referred to our unit at 23rd week of pregnancy due to a neurological anomaly of the fetus. Her first sonography screening and triple test were normal. The fetus presented several anomalies:
Unilateral anophthalmia of the right eye and moderate exophthalmia of the left eye;
Right posterior schizencephaly;
Agenesis of the corpus callosum;
Moderate bilateral ventriculomegaly.
At 26th week the anomalies were confirmed by ultrasonography and an MRI. The fetal karyotype (46XX and serological tests (Toxoplasmosis, Rubeola, CMV, Herpes, Chikungunya) were normal. The parents opted for interruption of the pregnancy at 27 weeks. The baby did not have any external anomalies. Postmortem 3D-computed tomography was done and confirmed the right orbit anomaly.
Images 1, 2: 23rd week of pregnancy. Transverse scans at the level of the fetal eyes showing anophthalmia of the right eye and moderate exophthalmia of the left eye.
Images 3, 4: 23rd week of pregnancy. Image 3 - transverse plane through the fetal head with missing cavum septum pellucidum and schizencephaly on the right side. Image 4 - parasagittal scan of the fetal head showing moderate ventriculomegaly.
Images 5, 6: 26th week of pregnancy. MRI images confirming schizencephaly (visible on the image 5)
Images 7, 8: 23rd week of pregnancy. 3D image showing the fetal face with moderate exophthalmia of the left eye.
Images 9, 10: Postmortem CT scans showing the abnormal right orbit.