Septo-optic dysplasia

Findings

Absence of the septum pellucidum. Hypoplastic pituitary. Nonvisualization of the pituitary stalk. Hypoplasia of the optic nerves and optic chiasm.

Differential diagnosis:
- Septo-optic dysplasia
- Kallman syndrome
- Holoprosencephaly


Diagnosis: Septo-optic dysplasia


Key points

Also known as de Morsier's syndrome
Manifested by hypoplasia (underdevelopment) of the optic nerve, hypopituitarism and absence of the septum pellucidum
In a severe case, this results in pituitary hormone deficiencies, blindness, and mental retardation. However, there are milder degrees of each of the three problems, and some people only have one or two of the three.
Majority have other brain abnormalities as well, schizencephaly is most common
Ocular anomalies (coloboma, anophthalmia, microphthalmia)

Imaging findings:
- Absent septum pellucidum
- Flat roof of frontal horn, inferior aspect of frontal horn point down
- Small optic chiasm
- Thin pituitary stalk
- Posterior pituitary ectopia
- Callosal-forniceal continuation or fused midline fornices
- Thin corpus callosum
- Heterotopias, schizencephaly