title: Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: S
authors.initials: S
authors.lastname: De Smedt
authors.forename: P
authors.initials: P
authors.lastname: Demaerel
authors.forename: P
authors.initials: P
authors.lastname: Casaer
authors.forename: I
authors.initials: I
authors.lastname: Casteels
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology; D009900:Optic Nerve / Q000002:abnormalities*; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000473:pathology