Suspected septo-optic dysplasia (de Morsier syndrome)
Recommended: MRI Brain with thin-section through sella + orbits is the preferred imaging study for suspected septo-optic dysplasia (de morsier syndrome). Triad: optic nerve hypoplasia + midline brain defects (absent septum pellucidum) + pituitary dysfunction.
Recommended study
MRI Brain with thin-section through sella + orbits
Triad: optic nerve hypoplasia + midline brain defects (absent septum pellucidum) + pituitary dysfunction. Only need 2 of 3.
If the default doesn't apply
Endocrine surveillance
MRI
Pituitary MRI + endocrine work-up
IV contrast
Watch-outs
Hypopituitarism risk
Posterior pituitary ectopia → ADH deficiency, growth failure; baseline + serial endocrine evaluation.
Pearls
- Look for absent septum pellucidum + optic nerve atrophy on coronal images.
- Pituitary ectopia: posterior pituitary bright spot in median eminence rather than sella.
- Schizencephaly often coexists — image carefully for cortical clefts.