Septo-optic dysplasia

Case contributed by Ryan Thibodeau
Diagnosis certain

Presentation

Strabismus and decreased visual acuity.

Patient Data

Age: 5 months
Gender: Female
mri

Brain:

  • the septum pellucidum is absent

  • other midline structures, such as the pituitary gland, cerebellar vermis, and corpus callosum, display normal morphology

Orbits:

  • there is diffuse hypoplasia of the left optic nerve

  • there is also asymmetric hypoplasia of the left optic chiasm, which otherwise displays normal signal intensity

  • the right optic nerve displays normal course, caliber, and signal intensity

  • the globes maintain normal morphology bilaterally

Case Discussion

This is a case of an absent septum pellucidum with associated hypoplasia of the left optic nerve, compatible with septo-optic dysplasia.

Overall, the patient is doing well since the above MRI. There is no evidence of pituitary/endocrine dysfunction.

Co-authors:
Ananth Narayan, MD
Joseph Giampa, DO

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