Septo-Optic Dysplasia in an Infant with Early-Onset Obesity, Polydactyly, and Central Endocrine Deficiencies: A Case Report

Septo-optic dysplasia (SOD), also known as Morsier syndrome, is a rare congenital disorder involving optic nerve hypoplasia, midline brain anomalies, and pituitary hormone deficiencies. This report describes a 17-month-old male presenting with early-onset obesity, developmental delays, dysmorphic features, and polydactyly. Endocrine evaluations confirmed central diabetes insipidus and central hypothyroidism, while neuroimaging revealed classic SOD features. Despite normal genetic findings, clinical and imaging evidence supported the diagnosis. This case highlights the need for early identification and coordinated care to enhance outcomes and prevent long-term complications associated with SOD.

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Publication Details

Journal
International Journal of Science and Research (IJSR)
Published
2025-05-10
DOI
https://doi.org/10.21275/sr25503035430
Primary Topic
Growth Hormone and Insulin-like Growth Factors
Type
article
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article

Septo-Optic Dysplasia in an Infant with Early-Onset Obesity, Polydactyly, and Central Endocrine Deficiencies: A Case Report

Adam J. Gomez, Markus Bettin, Carlos Alberto Acevedo, Jorge Luis Ordonez Hernandez
International Journal of Science and Research (IJSR)
Growth Hormone and Insulin-like Growth Factors
article

Septo-Optic Dysplasia in an Infant with Early-Onset Obesity, Polydactyly, and Central Endocrine Deficiencies: A Case Report

Adam J. Gomez, Markus Bettin, Carlos Alberto Acevedo, Jorge Luis Ordonez Hernandez
article en

Abstract

Septo-optic dysplasia (SOD), also known as Morsier syndrome, is a rare congenital disorder involving optic nerve hypoplasia, midline brain anomalies, and pituitary hormone deficiencies. This report describes a 17-month-old male presenting with early-onset obesity, developmental delays, dysmorphic features, and polydactyly. Endocrine evaluations confirmed central diabetes insipidus and central hypothyroidism, while neuroimaging revealed classic SOD features. Despite normal genetic findings, clinical and imaging evidence supported the diagnosis. This case highlights the need for early identification and coordinated care to enhance outcomes and prevent long-term complications associated with SOD.

International Journal of Science and Research (IJSR)Vol. 14(5)
Zero hunger
Openalex Percentile: Top 87%
Growth Hormone and Insulin-like Growth Factors
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