Septo-optic dysplasia: a rare case report

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.

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Journal
International Journal of Contemporary Pediatrics
Published
2024-10-24
DOI
https://doi.org/10.18203/2349-3291.ijcp20243097
Citations
1
Primary Topic
Inflammatory mediators and NSAID effects
Type
article
Field-Weighted Citation Impact
0.45
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article

Septo-optic dysplasia: a rare case report

Kapil Bainade, Veeranna Kotrashetti, Karan J. Bhoomraddi, Neelu Elon
1 citations
International Journal of Contemporary Pediatrics
Inflammatory mediators and NSAID effects
0.45
article

Septo-optic dysplasia: a rare case report

Kapil Bainade, Veeranna Kotrashetti, Karan J. Bhoomraddi, Neelu Elon
article en
1 citations

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.

International Journal of Contemporary PediatricsVol. 11(11)
Dr. D. Y. Patil Medical College, Hospital and Research Centre (IN)
Good health and well-being
Openalex Percentile: Top 31%
Inflammatory mediators and NSAID effects
0.45
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