Introduction: Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by optic nerve hypoplasia, hypothalamic–pituitary axis dysfunction, and midline brain anomalies. Central diabetes insipidus (DI) is an uncommon but potentially life-threatening manifestation, particularly in early infancy, where delayed recognition can result in severe complications.Case Presentation: An 8-month-old female, born at term to a 17-year-old primigravida after an uncomplicated pregnancy, presented with fever, right eyelid swelling, and developmental delays noted since early infancy. Neonatal history included hypoglycemia, sepsis, and hydrocephalus. On admission, she developed seizures, hypoglycemia, and later hypovolemic shock with severe hypernatremia (serum sodium 176 mmol/L, plasma osmolarity 348 mOsm/kg).Cranial computed tomography revealed the absence of the septum pellucidum and hydrocephalus, while ophthalmologic evaluation confirmed bilateral optic nerve hypoplasia. The final diagnoses were SOD, central DI, hypernatremia secondary to hypothalamic–pituitary dysfunction, and severe developmental delay. She was stabilized with fluid correction and endocrine management and referred for multidisciplinary follow-up. (picture)Conclusion: This case highlights an unusual and severe early presentation of SOD with central DI in an infant, diagnosed in a resource-limited setting using computed tomography when magnetic resonance imaging was unavailable. The combination of early-onset DI, bilateral optic nerve hypoplasia, and developmental delay underscores the importance of maintaining high clinical suspicion, prompt endocrine evaluation, and timely neuroimaging in infants with multisystem neurological and visual abnormalities.Early recognition and coordinated multidisciplinary care are essential to prevent life-threatening complications and optimize neurodevelopmental outcomes.
