A Case of Septo-Optic Dysplasia with Family History

Lee, Geum-Bong; Kim, Ji Sun; Ryu, Won Yeol; Lee, Sae Mi; Lee, Won-Gu; Kim, Jong Kuk; Yoon, Byeol A

Case report

Korean Journal of Neuromuscular Disorders 2018;10(2):37-40.

Geum-Bong Lee, Ji Sun Kim, Won Yeol Ryu, Sae Mi Lee, Won-Gu Lee, Jong Kuk Kim, Byeol A Yoon

Departments of 1Neurology, 2Ophthalmology, Dong-A University College of Medicine, Busan; 3Department of Neurology, Kosin University College of Medicine, Busan, Korea

가족력이 있는 중격 시신경 형성 장애 증례

이금봉, 김지선, 류원열, 이새미, 이원구, 김종국, 윤별아

동아대학교 의과대학 신경과학교실1, 안과학교실2, 고신대학교 의과대학 신경과학교실3

Abstract

Septo-optic dysplasia (SOD), also known as de-Morsier's syndrome, is a rare disorder with more than two of optic nerve hypoplasia, pituitary gland hypoplasia, or midline brain abnormalities including absence of septum pellucidum and/or corpus callosal agenesis. Most cases of SOD are sporadic, but there are cases of patients who have familial history of SOD.