| Septo-optic dysplasia plus diagnosed in a middle-aged woman |
| Seung Tae Oh, Mi-Ri Kang, Seong-il Oh, Eung Gyu Kim, Sang Jin Kim, Jung Hwa Seo, Eun Joo Chung, and Ki-Hwan Ji |
| Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea |
| Corresponding Author:
Ki-Hwan Ji ,Tel: +82-51-890-8613, Fax: +82-51-890-6130, Email: kihwanji@gmail.com |
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Received January 29, 2018 Revised: May 18, 2018 Accepted June 17, 2018 |
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| ABSTRACT |
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Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic
seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations. |
| Key words:
Septo-optic dysplasia; Optic atrophy; Congenital abnormalities |
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