European Journal of Paediatric Neurology vol:4 issue:4 pages:189-93
In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. 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.