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

Charu Venkatesan; Dawn Gano; Barbara Scelsa; Brigitte Vollmer; Monica E Lemmon; Andrea C Pardo; Sarah B Mulkey; Tomo Tarui; Mark Scher; Anthony R Hart; Sonika Agarwal

doi:10.1016/j.pediatrneurol.2024.12.014

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

Pediatr Neurol. 2024 Dec 30:164:17-24. doi: 10.1016/j.pediatrneurol.2024.12.014. Online ahead of print.

Authors

Charu Venkatesan¹, Dawn Gano², Barbara Scelsa³, Brigitte Vollmer⁴, Monica E Lemmon⁵, Andrea C Pardo⁶, Sarah B Mulkey⁷, Tomo Tarui⁸, Mark Scher⁹, Anthony R Hart¹⁰, Sonika Agarwal¹¹

Affiliations

¹ Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio. Electronic address: [email protected].
² Department of Neurology & Pediatrics, University of California San Francisco, San Francisco, California.
³ Department of Pediatric Neurology, Buzzi Children's Hospital, University of Milan, Milan, Italy.
⁴ 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.
⁵ Department of Pediatrics and Population Health Sciences, Duke University School of Medicine, Durham, North Carolina.
⁶ Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
⁷ 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.
⁸ Division of Pediatric Neurology, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island.
⁹ Emeritus Full Professor Pediatrics and Neurology, Case Western Reserve University School of Medicine, Cleveland, Ohio.
¹⁰ Department of Paediatric Neurology, King's College Hospital NHS Foundation Trust, London, UK.
¹¹ 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.

PMID: 39827528
DOI: 10.1016/j.pediatrneurol.2024.12.014

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.

Keywords: Congenital brain malformation; Counseling; Fetal neurology; MRI; Outcome; Prognostication.

Publication types

Review