Prenatally Diagnosed Absent Septum Pellucidum and Septo-Optic Dysplasia: A Narrative Review and Practical Recommendations for Pediatric Neurologists

Charu Venkatesan, Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: charulata.venkatesan@cchmc.org.
Dawn Gano, Department of Neurology & Pediatrics, University of California San Francisco, San Francisco, California.
Barbara Scelsa, Department of Pediatric Neurology, Buzzi Children's Hospital, University of Milan, Milan, Italy.
Brigitte Vollmer, Faculty of Medicine, Clinical Neurosciences, Clinical and Experimental Sciences, University of Southampton, Southampton, UK; Paediatric and Neonatal Neurology, Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Monica E. Lemmon, Department of Pediatrics and Population Health Sciences, Duke University School of Medicine, Durham, North Carolina.
Andrea C. Pardo, Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Sarah B. Mulkey, Zickler Family Prenatal Pediatrics Institute, Children's National Hospital, Washington, District of Columbia; Departments of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia; Division of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.
Tomo Tarui, Division of Pediatric Neurology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Mark Scher, Emeritus Full Professor Pediatrics and Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Anthony R. Hart, Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK.
Sonika Agarwal, Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Document Type

Journal Article

Publication Date

3-1-2025

Journal

Pediatric neurology

Volume

164

DOI

10.1016/j.pediatrneurol.2024.12.014

Keywords

Congenital brain malformation; Counseling; Fetal neurology; MRI; Outcome; Prognostication

Abstract

Evaluation of the cavum septum pellucidum is required in standard second-trimester screening fetal anatomy ultrasound scans. The absence of septum pellucidum triggers further evaluation and referral for subspecialty counseling. Absence of septum pellucidum is linked to other midline anomalies including septo-optic dysplasia. The purpose of this narrative review on absent septum pellucidum and septo-optic dysplasia is to discuss the literature, including pre- and postnatal management and neurodevelopmental outcome, provide practical recommendations, and outline research gaps to advance this nascent field.

Department

Neurology

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