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伴有易疲劳性肌无力及乙酰胆碱受体抗体升高的线粒体性眼肌麻痹

Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.

作者信息

Behbehani Raed, Sharfuddin Khaja, Anim J T

机构信息

Department of Ophthalmology, Ibn Sina Hospital, Kuwait City, Kuwait.

出版信息

J Neuroophthalmol. 2007 Mar;27(1):41-4. doi: 10.1097/WNO.0b013e31803312fa.

DOI:10.1097/WNO.0b013e31803312fa
PMID:17414872
Abstract

A 25-year-old man with chronically progressive ptosis and bilateral ophthalmoplegia displayed fatigability and fluctuation of ptosis, an abnormal single-fiber electromyogram, and a markedly elevated acetylcholine receptor antibody level. Yet a muscle biopsy showed clear evidence of a mitochondrial cytopathy, and the clinical features did not improve after treatment with prednisone. This case emphasizes the difficulty in differentiating mitochondrial cytopathy from myasthenia gravis and points out that elevated acetylcholine receptor antibody levels may occur in nonmyasthenic conditions.

摘要

一名25岁男性,患有慢性进行性上睑下垂和双侧眼肌麻痹,表现为上睑下垂的疲劳性和波动性、单纤维肌电图异常以及乙酰胆碱受体抗体水平显著升高。然而,肌肉活检显示出线粒体细胞病的明确证据,且泼尼松治疗后临床症状未改善。该病例强调了区分线粒体细胞病和重症肌无力的困难,并指出乙酰胆碱受体抗体水平升高可能出现在非重症肌无力的情况下。

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Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody.伴有易疲劳性肌无力及乙酰胆碱受体抗体升高的线粒体性眼肌麻痹
J Neuroophthalmol. 2007 Mar;27(1):41-4. doi: 10.1097/WNO.0b013e31803312fa.
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引用本文的文献

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Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia.慢性进行性眼外肌麻痹患者的误诊类型与频率及诊断延迟时间
J Ophthalmic Vis Res. 2024 Sep 16;19(3):334-339. doi: 10.18502/jovr.v19i3.13998. eCollection 2024 Jul-Sep.
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Progressive External Ophthalmoplegia.进行性眼外肌麻痹
Curr Neurol Neurosci Rep. 2016 Jun;16(6):53. doi: 10.1007/s11910-016-0652-7.