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BMC Research Notes

, 7:191

First Online: 28 March 2014Received: 21 July 2013Accepted: 18 March 2014DOI: 10.1186-1756-0500-7-191

Cite this article as: Zoric, L., Nikolic, S., Stojcic, M. et al. BMC Res Notes 2014 7: 191. doi:10.1186-1756-0500-7-191

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.

KeywordsSepto-optic dysplasia Optic hypoplasia Polymicrogyria Hypopituitarism Oculomotor palsy Electronic supplementary materialThe online version of this article doi:10.1186-1756-0500-7-191 contains supplementary material, which is available to authorized users.

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Author: Lepsa Zoric - Simon Nikolic - Milan Stojcic - Dragana Zoric - Sinisa Jakovljevic

Source: https://link.springer.com/







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