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Ptosis, extraocular motility disorder, and myopia as features of pompe disease.

机译:眼睑下垂,眼外运动障碍和近视是庞贝病的特征。

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PURPOSE: The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy. DESIGN: Single case description. RESULTS: This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures. CONCLUSIONS: The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.
机译:目的:本报告的资产是对新的临床发现的详尽描述,包括上睑下垂,眼外运动障碍和近视的结合,这是通过酶疗法延长经典婴儿期庞贝病的生存期的结果。设计:单例说明。结果:该手稿描述了4.5岁患有经典婴儿发作性庞贝病的患者的上睑下垂,眼外运动障碍和近视的组合,该患者通过酶疗法存活。该患者使用Prolene 3-0缝线进行双侧额叶悬吊(改良的Crawford技术)治疗。结论:上睑下垂,眼外运动障碍和近视相结合是典型的婴儿期庞贝病儿童的新临床发现。

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