Sasaki K, Suga K, Tsugawa S, Sakuma K, Tachi N, Chiba S, Imamura S
Department of Pediatrics, Hokkaido Prefectural Sapporo Rehabilitation Center for Disabled Children, Teine-ku, Japan.
Brain Dev. 1996 Jan-Feb;18(1):64-7. doi: 10.1016/0387-7604(95)00088-7.
The light- and electron-microscopical findings in the skeletal muscle of a patient with Marinesco-Sjogren syndrome (MSS) are presented. Muscle biopsy specimens showed myopathy with slightly dystrophic changes including variation in fiber size, muscle fiber necrosis, regeneration and rimmed vacuole formation. Fiber type analysis with myosin ATPase staining showed a mild increase in type 2C fibers. Electron microscopy revealed autophagic vacuoles with numerous myeloid bodies, and a unique dense membranous structure associated with nuclei. We consider that this unique membranous structure is an important feature in the muscle pathology of MSS.
本文呈现了一名患有 Marinesco-Sjogren 综合征（MSS）患者骨骼肌的光镜和电镜检查结果。肌肉活检标本显示为肌病，伴有轻度营养不良性改变，包括纤维大小变异、肌纤维坏死、再生以及镶边空泡形成。采用肌球蛋白 ATP 酶染色进行纤维类型分析显示 2C 型纤维轻度增加。电子显微镜检查发现自噬空泡伴有大量髓样小体，以及一种与细胞核相关的独特致密膜性结构。我们认为这种独特的膜性结构是 MSS 肌肉病理学的一个重要特征。
