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Septo-Optic Dysplasia — RACP Paediatrics MCQ

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HardNeurology & DevelopmentSepto-Optic DysplasiaRACP Paediatrics

A 3-month-old presents with poor visual fixation, roving eye movements, and pendular nystagmus. Fundoscopy shows optic nerve hypoplasia with a double-ring sign. MRI shows absence of the septum pellucidum and pituitary hypoplasia. What is the diagnosis?

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Correct answer: E — Septo-optic dysplasia (de Morsier syndrome)

Septo-optic dysplasia: optic nerve hypoplasia + midline brain anomalies (absent septum pellucidum, corpus callosum agenesis) + hypothalamic-pituitary dysfunction. Patients require endocrine screening (GH, cortisol, thyroid, ADH) as pituitary hormone deficiencies may be life-threatening.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Visual Impairment in Infants