表现为慢性进行性眼外肌麻痹的成人发病型肌张力障碍1例  

One case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia

作　　者：杜丹阳 赵红丽[1] 李素丽[1] 努荣古丽·买买提[1] 张洁[1] 王新玲[1] 郭艳英[1] Du Danyang;Zhao Hongli;Li Suli;Maimaiti Nurongguli;Zhang Jie;Wang Xinling;Guo Yanying(Department of Endocrinology,People′s Hospital of Xinjiang Uygur Autonomous Region,Xinjiang Clinical Research Center for Diabetes,Urumqi 830000,China)

机构地区：[1]新疆维吾尔自治区人民医院内分泌与代谢病科、新疆糖尿病临床医学研究中心,乌鲁木齐830000

出　　处：《中华眼科杂志》2023年第3期217-219,共3页Chinese Journal of Ophthalmology

基　　金：自治区卫生健康青年医学科技人才专项科研项目(WJWY-201913)。

摘　　要：1例表现为慢性进行性眼外肌麻痹(CEPO)的成人发病型肌张力障碍患者就诊于内分泌科,患者既往自10岁起无明显诱因出现双侧上眼睑下垂,左眼为著,并呈进行性加重,临床诊断CEPO,但行线粒体全基因测序发现A3796G错义突变,故明确诊断为成人发病型肌张力障碍,予以降糖及改善肌代谢治疗。线粒体复合体ND1亚基的A3796G突变导致"眼睑痉挛"肌张力障碍者较为少见,需结合基因检测明确诊断,故临床医生应提高对该疾病的重视。We report a case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia.The patient had ptosis in both eyes,particularly the left eye,for no obvious reason since the age of 10,which was progressively aggravated.The clinical diagnosis was chronic progressive external ophthalmoplegia.However,whole gene sequencing revealed the mitochondrial A3796G missense mutation,so the patient was clearly diagnosed as adult-onset dystonia and given treatment to reduce blood glucose and improve muscle metabolism.The A3796G mutation in the ND1 subunit of the mitochondrial complex leading to ophthalmoplegia is relatively rare,requiring a combination with genetic testing for confirmation of diagnosis.

关 键 词：张力障碍 眼肌麻痹 慢性进行性外侧 糖尿病 线粒体肌病 

分 类 号：R777.16[医药卫生—眼科] R746[医药卫生—临床医学]