Presentation
Poor visual acuity with optic nerve hypoplasia on fundoscopy.
Patient Data
Age: 5 years
Gender: Female
From the case:
Septo-optic dysplasia
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There is absence of the septum pellucidum. The optic nerves and optic chiasm are markedly hypoplastic. On sagittal T1 the genu of the corpus callosum is somewhat foreshortened, and the anterior cerebral arteries have a relatively straight oblique course. The pituitary gland is hypoplastic with an absent (or very small) infundibulum.
Case Discussion
This is a case of septo-optic dysplasia.
Clinically, the patient is legally blind and experiences several hormone deficiencies secondary to her septo-optic dysplasia. She takes maintenance doses of hydrocortisone, levothyroxine, and growth hormone.
Co-authors:
Alannah McCann
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