Septo-optic dysplasia

Case contributed by Townsville radiology training
Diagnosis almost certain

Presentation

3 month female with abnormal eye movements, not fixing or following, no pupillary reaction to light

Patient Data

Age: 3 months
Gender: Female

Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.

mri

Absent anterior interhemispheric falx.

Absence of septum pellucidum and rostrum and genu of corpus callosum (atypical callosal dysgenesis)  with hypoplastic optic nerves. Imaging features suggestive of lobar type of holoprosencephaly associated with septo-optic dysplasia.

Large dorsal interhemispheric cyst.

Inferiorly placed cerebellar tonsils.

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