Septo-optic dysplasia

Case contributed by Maksym Kovratko
Diagnosis certain

Presentation

History of horizontal nystagmus on the right. Ophthalmologic evaluation revealed hypoplasia of the right optic nerve.

Patient Data

Age: 2 years
Gender: Male
mri

Hypoplasia of the right optic nerve (including the posterior part of the intraorbital segment, intracanalicular and intracranial segments) and optic chiasm (best evaluated on coronal T2-weighted images).

Lack of a septum pellucidum with concomitant mild flattening of the anterior horns of the lateral ventricles and a downward-sloping lower aspect of the anterior part of the horns (best evaluated on coronal T2-weighted images).

Case Discussion

This case demonstrates typical features of septo-optic dysplasia: hypoplasia of the right optic nerve and small optic chiasm, and absent septum pellucidum with resultant typical configuration of the anterior horns of the lateral ventricles.

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