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慢性进行性眼外肌麻痹:一例报告

Chronic Progressive External Ophthalmoplegia: A Case Report.

作者信息

Seemongal-Dass Rajiv V, Gracen Durell J, Seemongal-Dass Robin R, Chang Bernard

机构信息

Ophthalmology, Eyenet Ltd, Chaguanas, TTO.

Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, Leeds, GBR.

出版信息

Cureus. 2025 Jan 8;17(1):e77149. doi: 10.7759/cureus.77149. eCollection 2025 Jan.

DOI:10.7759/cureus.77149
PMID:39781285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11709421/
Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a rare mitochondrial disorder characterized by bilateral, slowly progressive ptosis and paralysis of the extraocular muscles. We present the case of a 61-year-old female with a 36-year history of bilateral ptosis and limited eye movements without diplopia. No family history of CPEO or other mitochondrial disorders was reported. To the best of our knowledge, this is the first documented case of CPEO in Trinidad and Tobago.

摘要

慢性进行性眼外肌麻痹(CPEO)是一种罕见的线粒体疾病,其特征为双侧、缓慢进展的上睑下垂和眼外肌麻痹。我们报告了一例61岁女性病例,该患者有36年双侧上睑下垂病史,眼球运动受限但无复视。未报告有CPEO或其他线粒体疾病的家族史。据我们所知,这是特立尼达和多巴哥有记录的首例CPEO病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/8fbcd8f6ddd5/cureus-0017-00000077149-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/f1336a24b974/cureus-0017-00000077149-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/01dc4af44a58/cureus-0017-00000077149-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/90d2b444ad6c/cureus-0017-00000077149-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/bc2c708c1211/cureus-0017-00000077149-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/8fbcd8f6ddd5/cureus-0017-00000077149-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/f1336a24b974/cureus-0017-00000077149-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/01dc4af44a58/cureus-0017-00000077149-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/90d2b444ad6c/cureus-0017-00000077149-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/bc2c708c1211/cureus-0017-00000077149-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b722/11709421/8fbcd8f6ddd5/cureus-0017-00000077149-i05.jpg

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Chronic Progressive External Ophthalmoplegia: A Case Report.慢性进行性眼外肌麻痹:一例报告
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[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].[线粒体DNA分析在慢性进行性眼外肌麻痹(CPEO)中的诊断价值]
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本文引用的文献

1
Ocular Myasthenia Gravis As Unilateral Ptosis and External Ophthalmoplegia: A Case Report.以单侧上睑下垂和外眼肌麻痹为表现的眼肌型重症肌无力:一例报告
Cureus. 2024 Mar 17;16(3):e56337. doi: 10.7759/cureus.56337. eCollection 2024 Mar.
2
Kearns-Sayre syndrome: Two case reports and a review for the primary care physician.卡恩斯-塞尔综合征:两例病例报告及给初级保健医生的综述
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眉悬吊上睑下垂修复术的力学原理:Fox五边形与Crawford三角形技术的比较研究
Ophthalmic Plast Reconstr Surg. 2017 Jan/Feb;33(1):22-26. doi: 10.1097/IOP.0000000000000621.
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Mitochondrial encephalomyopathies: advances in understanding.线粒体脑肌病:认识进展
Med Sci Monit. 2005 Jul;11(7):RA238-46. Epub 2005 Jun 29.
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).散发性进行性眼外肌麻痹(PEO)中ANT1、Twinkle和POLG1的突变
Neurology. 2003 Apr 22;60(8):1354-6. doi: 10.1212/01.wnl.0000056088.09408.3c.
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Chronic progressive external ophthalmoplegia.慢性进行性眼外肌麻痹
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Management of myogenic ptosis.肌源性上睑下垂的治疗
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.POLG基因的突变与以线粒体DNA缺失为特征的进行性眼外肌麻痹相关。
Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034.
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Nervenarzt. 2001 Feb;72(2):122-9. doi: 10.1007/s001150050724.
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Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.与人类线粒体DNA 3243位MELAS突变相关的非典型临床表现。
Neuromuscul Disord. 1993 Jan;3(1):43-50. doi: 10.1016/0960-8966(93)90040-q.