Neonatal Med.  2019 Aug;26(3):169-173. 10.5385/nm.2019.26.3.169.

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

• Kim YH
• Lee YK
• Ko SY
• Shin SM

• KMID: 2457185
• DOI: http://doi.org/10.5385/nm.2019.26.3.169

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.

Keyword

Agenesis of septum pellucidum; Infant, newborn; Outcome

MeSH Terms

Brain
Delivery of Health Care
Hospitals, General
Humans
Infant, Newborn*
Lost to Follow-Up
Medical Records
Optic Nerve
Prognosis
Prospective Studies
Rare Diseases
Retrospective Studies*
Seizures
Septum Pellucidum*
Viperidae

Figure

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  Figure 1. Cranial ultrasonography (A) and magnetic resonance images (B, C) showing isolated complete agenesis of the septum pellucidum (arrows) in case 6.

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  Figure 2. Cranial ultrasonography (A) and magnetic resonance images (B, C) showing partial agenesis of the septum pellucidum (arrows) with ventriculomegaly (arrowheads), hypoplastic corpus callosum (empty arrowhead), hypoplastic cerebellar vermis, and enlarged cisterna magna (empty arrow) in case 12.

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