Septo-optic dysplasia: a rare case report

Authors

  • Kapil Bainade Department of Pediatrics, D Y Patil Medical College and Hospital, Nerul, Navi Mumbai, Maharashtra, India
  • Veeranna Kotrashetti Department of Pediatrics, D Y Patil Medical College and Hospital, Nerul, Navi Mumbai, Maharashtra, India
  • Karan J. Bhoomraddi Department of Pediatrics, D Y Patil Medical College and Hospital, Nerul, Navi Mumbai, Maharashtra, India
  • Neelu Elon Department of Pediatrics, D Y Patil Medical College and Hospital, Nerul, Navi Mumbai, Maharashtra, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20243097

Keywords:

Septo-optic dysplasia, De morsier syndrome, Optic nerve hypoplasia

Abstract

Septo-optic dysplasia (SOD), earlier referred to as de Morsier syndrome, is an uncommon disorder of development wherein the septum pellucidum—a thin membrane located between the two cerebral hemispheres-as well as the eyes and pituitary gland, are affected. It is a spectrum of disorders that causes optic nerve defects and also affects the optic disc. It is also associated with midline brain anomalies and those of the pituitary gland. Thus, the disease may present as visual problems, reduced tone of the muscles, delays in development, and hormonal imbalances. Clinical examination identifies features related to these anomalies. The diagnosis is confirmed by neuroimaging, or a genetic study. Managing such a case requires a multi-disciplinary approach. Here we present an 8-year-old boy who was diagnosed with septo-optic dysplasia and was appropriately managed.

References

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Published

2024-10-24

Issue

Section

Case Reports