Septo-optic dysplasia plus: a case report

BMC Research Notes

Sinisa Jakovljevic⁵  Dragana Zoric⁴  Milan Stojcic²  Simon Nikolic³  Lepsa Zoric¹ 

[1] Ophthalmology Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia;Railway Health Institute, Ophthalmology Department, Savska 23, 11000 Belgrade, Serbia;Radiology Institute, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia;Neuropsychiatry Department, Faculty of Medicine, University of Pristina, Settlement Kosovska Mitrovica, Anri Dinana bb, 38200 Kosovska Mitrovica, Kosovo-Serbia;Gynecology Department, Health Center Zvecan, Kosovska Mitrovica, Kosovo-Serbia

关键词: Oculomotor palsy;    Hypopituitarism;    Polymicrogyria;    Optic hypoplasia;    Septo-optic dysplasia;   

Others  :  1134114
DOI  :  10.1186/1756-0500-7-191

 received in 2013-07-21, accepted in 2014-03-18,  发布年份 2014

【 摘 要 】

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.

Case presentation

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.

Conclusion

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.

【 授权许可】

   
2014 Zoric et al.; licensee BioMed Central Ltd.

【 图 表 】

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