Septo-optic dysplasia plus diagnosed in a middle-aged woman

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 callo...

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Published inAnnals of clinical neurophysiology Vol. 20; no. 2; pp. 85 - 88
Main Authors Oh, Seung Tae, Kang, Mi-Ri, Oh, Seong-il, Kim, Eung Gyu, Kim, Sang Jin, Seo, Jung Hwa, Chung, Eun Joo, Ji, Ki-Hwan
Format Journal Article
LanguageKorean
Published 2018
Subjects
Septo-optic dysplasia
Congenital abnormalities
Optic atrophy
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Summary: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.
Bibliography:KISTI1.1003/JNL.JAKO201828138051908
ISSN:2508-691X
2508-691X