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《Fudan University Journal of Medical Sciences》 2009-02
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Clinical manifestations,pathological changes and diagnosis of chronic progressive external ophthalmoplegia (twelve cases attached)

SUN Li1, LU Jia-hong2, LU Zhao-zeng1(1Department of Ophthalmology, 2Department of Neurology,Huashan Hospital,Fudan University,Shanghai 200040,China)  
Objective To investigate the clinical manifestations,pathological changes and dignosis of chronic progressive external ophthalmoplegia. Methods Clinical manifestations,pathological changes and diagnosis were analyzed in twelve patients with chronic progressive external opthalmoplegia (CPEO). Results In 12 patients,6 were male and 6 were female.The average age of onset was 11.6 years old.Two were siblings.All patients showed chronic progressive ptosis and difficulty in eye movements.All were symmetric except one at early stage.Besides ophthalmoplegia,4 had orbicularis weakness,1 had mild limb weakness,3 had endocrine dysfunction.Ragged-red fiber (RRF) positive muscle fibers and cytochnome cxidase (COX) deficient muscle fibers were much more than 2% in all specimens of muscle biopsies. Conclusions The major clinical manifestations of CPEO are progressive ophthalmoplegia,which can be accompanied with limb weakness.Ragged red fibers and COX deficiency fibers are crucial pathological clues for the diagnosis of CPEO.
【CateGory Index】: R746
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1 PENG Xiao-yin,WANG Li-wen,LI Er-zhen,ZHU Yan-li,CHEN Qian,LV Ling-yun,WANG Xin (Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics,Beijing 100020,China);Inborn Errors of Metabolism Combined with External Ophthalmoplegia in 9 Children[J];Journal of Applied Clinical Pediatrics;2009-22
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1 JING Cheng-xue(Department of Pediatrics,the First Hospital Affiliated to Guangxi Medical University,Nanning 530021,China);Inherited Metabolic Disorders[J];Journal of Applied Clinical Pediatrics;2007-08
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