Septo-Optic Dysplasia in an Infant with Early-Onset Obesity, Polydactyly, and Central Endocrine Deficiencies: A Case Report
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Carlos Manuel Aguirre Acevedo, Ana Maria Sepulveda Gomez, Maria Cecilia Montes Bettin, Jorge Luis Ordonez Hernandez
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4410259558