Presentation
Seizures
Patient Data
The septum pellucidum is completely absent. Hypoplastic both optic nerves and chiasm. The corpus callosum is stretched and thinned. Pituitary gland is normal.
Moderately dilated supra-tentorial ventricular system with normal sized fourth ventricle and widened sylvian fissures. The mammillo-pontine distance = 8 mm. No periventricular CSF permeation seen. Aqueductal stenosis is noted. No associated Chiari malformations.
Case 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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