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CASE REPORT
Ann Clin Neurophysiol. 2018; 20(2): 85-88.
Published online July 31, 2018.
doi: https://doi.org/10.14253/acn.2018.20.2.85
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
Received January 29, 2018   Revised: May 18, 2018    Accepted June 17, 2018
ABSTRACT
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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