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眼咽型肌营养不良症:来自波多黎各的一例病例报告。

Oculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico.

作者信息

Menendez Sepulveda Julian A, Izquierdo Natalio

机构信息

Medical School, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

Department of Surgery, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

出版信息

Cureus. 2024 Jul 30;16(7):e65766. doi: 10.7759/cureus.65766. eCollection 2024 Jul.

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.

摘要

眼咽型肌营养不良症(OPMD)是一种迟发性遗传性骨骼肌病。诊断基于40岁以上患者出现上睑下垂、吞咽困难以及该病的阳性家族史。一名57岁男性患者表现为无睑皱襞的上睑下垂、成人起病的吞咽困难和双侧人工晶状体植入。该患者通过硅胶棒额肌悬吊术进行了上睑下垂修复。随后发现他的母亲有上睑下垂、干眼以及因吞咽困难导致的厌食,因此提示可能存在家族病史。基于全面的眼科评估,以及他的上睑下垂、吞咽困难和家族病史,该患者被诊断为眼咽型肌营养不良症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02f5/11288381/e353d59f340f/cureus-0016-00000065766-i01.jpg

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