Septo-optic Dysplasia

Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts
  • John C. Benson
  • David Nascene
  • Charles Truwit
  • Alexander M. McKinney
Original Article
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Abstract

Purpose

Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study.

Methods

The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n= 41) and cerebral magnetic resonance imaging (MRI). Included patients had coronal (≤3 mm), axial (≤4 mm), and sagittal (≤4 mm) imaging reviewed by two staff neuroradiologists by consensus. Both olfactory sulcus and bulb-tract hypoplasia were ascribed a grade of 0 (normal) to 3 (complete hypoplasia). Other associated congenital anomalies were recorded, if present. Incidence of anomalies were compared to age-matched and gender-matched control patients.

Results

Out of 41 septo-optic dysplasia patients 33 were included (mean age = 120.7 months), with 8 excluded due to isolated septum pellucidum absence (n= 5), isolated bilateral optic hypoplasia (n= 2), or inadequate imaging (n= 1). An olfactory sulcus was hypoplastic on one or both sides in 14/33 (42.4%). Olfactory bulb hypoplasia was noted in one or both tracts in 15/33 (45.4%). A significant correlation was found between degree of olfactory sulcal and bulb-tract hypoplasia (ρ = 0.528, p= 0.0009). Other anomalies were: anterior falx dysplasia (n= 16, 48.5%), incomplete hippocampal inversion (n= 14, 42.4%), polymicrogyria (n= 11, 33.3%), callosal complete or partial agenesis (n = 10, 30.3%), schizencephaly (n = 8, 24.2%), ectopic posterior pituitary (n= 6, 18.2%), and nodular heterotopia (n= 4, 12.1%). Of the age-matched control patients 10/33 (30.3%) had at least mild anterior falx hypoplasia, and 1 control patient was noted to have unilateral incomplete hippocampal inversion (IHI); none of the age-matched control patients had olfactory sulcus or bulb-tract hypoplasia.

Conclusion

Olfactory sulcus and bulb-tract hypoplasia are fairly common in septo-optic dysplasia and can be discordant between sides. Of the other associated anomalies, anterior falx dysplasia seems to be the most common.

Keywords

Falx dysplasia Congenital anomalies Callosal agenesis Schizencephaly 

Abbreviations

IHI

Incomplete hippocampal inversion

PMG

Polymicrogyria

PVNH

Periventricular nodular heterotopia

SOD

Septo-optic dysplasia

SOD-plus

Septo-optic dysplasia and schizencephaly

Notes

Compliance with ethical guidelines

Conflict of interest

J.C. Benson, D. Nascene, C. Truwit and A.M. McKinney declare that they have no competing interests.

Ethical standards

Institutional Review Board (IRB) approval was obtained for this retrospective study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • John C. Benson
    • 1
  • David Nascene
    • 1
  • Charles Truwit
    • 2
  • Alexander M. McKinney
    • 1
  1. 1.Department of RadiologyUniversity of Minnesota Medical CenterMinneapolisUSA
  2. 2.Department of RadiologyHennepin County Medical CenterMinneapolisUSA

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