CAJ | 학술논문

目的:报道1例少见的先天性眼外肌纤维化(congenital fibrosis of the extraocular muscles,CFEOM)病例.方法:病理报告.结果:一名3岁的中国男孩表现为眼外斜和上睑下垂,被诊断为CFEOM.眼底、神经影像学、电生理检查发现异常视神经.病理学显示眼外肌萎缩变性.结论:本病例提示CFEOM可合并异常视神经和非典型眼运动.病理学检查有助于发现眼外肌纤维的病变.
목적:보도1례소견적선천성안외기섬유화(congenital fibrosis of the extraocular muscles,CFEOM)병례.방법:병리보고.결과:일명3세적중국남해표현위안외사화상검하수,피진단위CFEOM.안저、신경영상학、전생리검사발현이상시신경.병이학현시안외기위축변성.결론:본병례제시CFEOM가합병이상시신경화비전형안운동.병이학검사유조우발현안외기섬유적병변.
AIM:To report a distinct and sporadic case of congenital fibrosis of the extraocular muscles(CFEOM).METHODS:A case report.RESULTS:A 3-year-old Chinese boy who presented with exotropia and ptosis was diagnosed with CFEOM.Abnormal optic nerves were depicted by fundus examination,neuroradiology and electrophysiology.Pathological study showed muscle fibers were atrophic degeneration.CONCLUSION:Our case highlights that CFEOM may have abnormal optic nerve and nontypical eye movement.The pathological study could help to find out the muscle fibers' alterations.