Outcome of Neonates with Agenesis of Septum Pellucidum: A Retrospective Single Center Study

ABSTRACT

PURPOSE: Agenesis of the septum pellucidum (ASP) is a very rare disease that can be isolated or associated with other brain abnormalities. The neurological prognosis of isolated ASP remains controversial. The aim of this study was to evaluate the clinical outcome of neonates with ASP. METHODS: We retrospectively analyzed the medical records of 12 neonates with isolated ASP or ASP combined with other brain abnormalities who were born at Cheil General Hospital & Women's Healthcare Center between January 2007 and December 2017. RESULTS: Of the 12 neonates, six were identified prenatally and six were identified postnatally. Isolated ASP was found in eight neonates; of these, four were detected antenatally. ASP associated with other brain abnormalities was found in four neonates. ASP was complete in nine neonates, including six with isolated ASP, and partial in three, including two with isolated ASP. Six of the eight neonates with isolated ASP had normal neurological development, except two who were lost to follow-up. Among the four neonates with other associated brain abnormalities, two had delayed motor development and a seizure, one had normal development, and one was lost to follow-up. In all neonates, ophthalmological examination revealed no optic nerve abnormalities. CONCLUSION: Isolated ASP seems to have a good neurological prognosis without ocular problems. This result needs to be confirmed by larger prospective studies over a longer developmental timeline.