Septo-optic dysplasia

Case contributed by Dr Hisham Alwakkaa

Presentation

History of involuntary eye movements in all directions since three months of age. Ophthalmology evaluation showed optic nerve hypoplasia.

Patient Data

Age: 1
Gender: Female
MRI

Hypoplasia of the bilateral optic nerves (involving the posterior part of the intra-orbital segment, intra-canalicular and intra-cranial segments) and the optic chiasm (best appreciated on coronal T2-weighted images).

Absent septum pellucidum with associated mild flattening of the anterior horns of the lateral ventricles with point-down appearance of the inferior aspect of the anterior horn: (best appreciated on coronal T2-weighted images).

Ectopic posterior pituitary gland: (best appreciated on sagittal T1-weighted images as a high signal focus seen at the median eminence).

MRI

Annotated selected images for:

Normal bilateral olfactory nerves.

Point-down appearance of the anterior horns of the lateral ventricles.

Ectopic posterior pituitary.

 

Case Discussion

This is a case where most of the septo-optic dysplasia features are nicely demonstrated.

Hypoplastic optic nerves and chiasm, absence septum pellucidum with resultant typical configuration of the anterior horns of the lateral ventricles, along with ectopia of the posterior pituitary gland.  On the other hand, the globes are intact and the olfactory bulbs are present with no evidence of associated parenchymal abnormality.

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Case information

rID: 58333
Published: 12th Feb 2018
Last edited: 16th Jan 2019
Inclusion in quiz mode: Included
Institution: Women and children Hospital of Buffalo

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