Abstract
BackgroundSepto-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.Case presentationAn 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.ConclusionBy 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.
Highlights
Septo-optic dysplasia, 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
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
Summary
Our patient presented bilateral optic nerve hypoplasia, ocular motility disturbances, midline brain defects with multiple pituitary hormone deficiency and left temporal lobe polimycrigyria, but in the absence of clear neurological deficit. Optic nerve hypoplasia and other ophthalmologic disorders may not be recognized during the first months of life, but should be borne in mind and investigated in such children. Author details 1Ophthalmology Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia. Author details 1Ophthalmology Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia. 2Radiology Institute, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia. 3Railway Health Institute, Ophthalmology Department, Savska 23, 11000 Belgrade, Serbia. 4Neuropsychiatry Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia. 5Gynecology Department, Health Center Zvecan, Kosovska Mitrovica, Kosovo-Serbia
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