Isolated absence of septum pellucidum: prenatal diagnosis and outcome

Fetal Diagnosis and Therapy
Aida García-ArrezaGuillermo Antiñolo

Abstract

Septal agenesis is a rare cerebral developmental anomaly characterized by partial or complete absence of the septum pellucidum (ASP). Septal agenesis may be associated with various congenital brain malformations, namely holoprosencephaly, septooptic dysplasia (SOD), schizencephaly or agenesis of the corpus callosum. Current imaging technologies do not enable differentiation in utero between isolated ASP and SOD. This is due to the fact that optic nerve hypoplasia and endocrine anomalies are never ruled out completely. We report a case of prenatal diagnosis of isolated ASP based on 2D and 3D ultrasound and fetal MRI. Postnatal MRI confirmed prenatal findings and the boy is currently doing well at 18 months of age.

Citations

Mar 1, 2018·AJR. American Journal of Roentgenology·Usha D NagarajBeth M Kline-Fath
Jun 27, 2018·Journal of Child Neurology·Marissa M Vawter-LeeCharu Venkatesan
Aug 8, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Shiri CooperOmer Bar-Yosef
Mar 19, 2020·Clinical Case Reports·Imane Ben M'BarekOlivier Picone
Mar 9, 2021·Taiwanese Journal of Obstetrics & Gynecology·Cem YenerFüsun Varol

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