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Septo optic dysplasia

Case Detail

Anatomy: Brain-Spine
Heather Borders, MD
Diagnostic Category: Developmental or Congenital
Created: over 9 years ago
Updated: over 9 years ago
Tags: PEDS
Modality/Study Types: MRI
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3 month old with hypoplastic optic nerves on physical exam

Case Images


Septo optic dysplasia and polymicrogyria


Hypoplastic optic nerves (not shown)
Absent septum pellucidum and dysmorphic lateral ventricles
Bilateral polymicrogyria (left more than right) with asymmetric thalami and cerebral peduncles (left smaller than right) and asymmetric myelination (right more than left)
Polymicrogyria is perisylvian, with more extensive involvement of the adjacent frontal lobe on the left.


Septo optic dysplasia consists of absence of the septum pellucidum and hypoplasia of the optic nerves. Approximately 2/3rds of patients will have hypothalamic pituitary axis dysfunction.

There are two distinct groups; one group with a high incidence of malformations of cortical development and partial absence of the septum pellucidum and one group that overlaps with lobar holoprosencephaly with decreased white matter and normal cerebral cortex.

Polymicrogyria is a malformation of cortical development. There is abnormal arrangement and excessive infolding of cerebral cortex. Polymicrogyria can be symmetric or asymmetric. Symmetric types seem to have a specific symptom complex.


AJ Barkovich. AJNR; 20 (1999); 1814-1821.
Barkovich. Pediatric neuroimaging. pp. 372-373.

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