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狄莫西亞氏症侯群(de Morsier's syndrome, septo-optic dysplasia)－病例報告
de Morsier's Syndrome (Septo-Optic Dysplasia)-A Case Report
摘要
狄莫西亞氏症侯群(de Morsier's syndrome, septo-opic dysplasia)表現的症狀包括身材短小、眼球震顫及視神經不良等三方面；其特徵為一系列腦部中線發育不全，包括透明中隔缺損、胼胝體發育不全及第三腦室發育不良等現象。一般而言，這類的病人視力通常都很差，約有60%的病人發現有下視丘－腦下垂體功能不良之情形。本文報告一12歲男性，在出生三個月後，其父母發現患者對外界的刺激無明顯的反應，經安排檢查包括：視力、色覺、視神經檢查、核磁共振及內分泌檢查等。我們診斷他為狄莫西亞氏症侯群。
關鍵字
無資料並列摘要
De Morsier's syndrome (Septo-optic dysplasia) consists of the triad of short stature, nystagmus and optic disc hypoplasia. It is characterized by a spectrum of midline developmental abnormities including absence of the septum pellucidum, agenesis of the corpus collosum and dysplasia of the anterior third ventricle. This paper reported a case of 12-year-old male suffered from poor vision since his childhood. Neruoophthalmological conditions revealed exotropia, optic nerve hypoplasia of both eyes and absence of the septum pellucidum. The clinical picture and pathophysiology will be presented and discussed.