Fact-sheet: Septo-optic dysplasia


Updated on 09/17/2021 at 12:16 PM

Note : 10/10 ( 3 notes )
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Definition

Condition characterized by optic nerve hypoplasia and absence of the septum pellucidum, associated in 2/3 of cases with hypothalamic-pituitary dysfunction.

Clinical features

Estimated prevalence of ~ 1:50,000.
No recognized sex predilection.
Risk factors: maternal diabetes, CMV infection, medications (quinidine, antiepileptic drugs, drugs of abuse)

Ultrasound

Screening on prenatal ultrasound

MRI

Reference examination, looking for:
- Total or partial agenesis of the septum pellucidum with squared appearance of the frontal horns of the lateral ventricles
- Hypoplasia of one or both optic nerves
- Hypoplasia of the optic chiasm resulting in widening of the anterior part of the third ventricle and suprasellar cistern
- +/- hypoplasia or agenesis of the corpus callosum
- +/- Hypoplasia of the pituitary stalk
- +/- neuronal migration anomalies