Septo-optic dysplasia

Discussion:

Septo-optic dysplasia (De Morsier syndrome) is charachterized by hypoplasia of optic nerves/tracts, absent septum pellucidum, and hypothalamic-pituitary dysfunction. It can be associated with other CNS anomalies like schizencephaly, hypoplastic olfactory bulbs, low lying cerebellar tonsils (Chiari I), fenestrated falx, grey matter heterotopia and cortical dysplasia.

Ventricular dilatation was reported in 40% of the patients with SOD which could be due to aqueductal stenosis or associated Chiari malformations.

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