Paradas Carmen, Márquez Celedonio, Gallardo Eduard, De Luna Noemí, Chinchón Isidoro, Recan Dominique, Jiménez María Dolores, Illa Isabel
Servicio de Neurología, Hospital Universitario de Valme, Sevilla, Spain.
Muscle Nerve. 2005 Jul;32(1):61-5. doi: 10.1002/mus.20311.
We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding.
我们报告了两名患有X连锁Emery-Dreifuss肌营养不良症（X-EDMD）的兄弟中出现大量边缘空泡的情况，这一情况通过肌肉核膜上emerin的缺失以及基因分析得以证实，基因分析显示Xq28区域的STA基因外显子6中有一个新的2碱基对缺失。对空泡的免疫组织化学分析显示，边缘空泡的肌膜中有抗肌萎缩蛋白表达，但无merosin表达，并且在空泡或肌纤维中均无淀粉样蛋白和膜攻击复合物（MAC）沉积。边缘空泡的存在可能是X-EDMD的一种组织病理学表现，对于临床明确诊断为EDMD的患者，不应因这一发现而排除诊断。
