title: Septo-optic dysplasia plus: a case report.
abstract: BACKGROUND
  Septo-optic dysplasia, also referred to as de Morsier syndrome, is a congenital condition characterized by classic triad features: midline brain abnormalities, optic nerve hypoplasia and pituitary endocrine dysfunction. Sometimes, other various malformations appear within syndrome.
  
  
  METHODS
  An 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth hormone deficiency, diabetes insipidus, seizures, mental retardation, optic nerve atrophy and right ptosis, was directed to us for consultative examination.The girl of short stature and low weight for her age had bilateral optic nerve hypoplasia, poor vision, nystagmus and right eye oculomotor palsy. Electroencephalogram revealed epileptic changes. Magnetic resonance imaging showed an empty sella syndrome, partial hypoplasia of corpus callosum, cavum of pellucid septum and diffuse polymicrogyria of the left temporal lobe. We found all elements of septo-optic dysplasia plus syndrome with right oculomotor nerve involvement.
  
  
  CONCLUSIONS
  By earlier findings and evaluation, we established a diagnosis of septo-optic dysplasia plus. The case confirms the existence of various malformations within the syndrome and the need for the cooperation of several specialists in the diagnosis and treatment of children with the syndrome.
authors.affiliation: Ophthalmology Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia. zoriclepsa@gmail.com.
authors.forename: Lepsa
authors.initials: L
authors.lastname: Zoric
authors.forename: Simon
authors.initials: S
authors.lastname: Nikolic
authors.forename: Milan
authors.initials: M
authors.lastname: Stojcic
authors.forename: Dragana
authors.initials: D
authors.lastname: Zoric
authors.forename: Sinisa
authors.initials: S
authors.lastname: Jakovljevic
mesh_terms: D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D015840:Oculomotor Nerve Diseases / Q000151:congenital / Q000473:pathology* / Q000503:physiopathology; D025962:Septo-Optic Dysplasia / Q000151:congenital / Q000473:pathology* / Q000503:physiopathology