Abstract
Objectivediagnosis of de Morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome This article reports a 19-year-old female with bilateral optic nerve hypoplasia, anterior encephalocele and intact septum pellucidum. She was diagnosed with diabetes insipidus, short stature and the history of seizure.
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