Zimmer C, Gosztonyi G, Cervos-Navarro J, von Moers A, Schröder J M
Institut für Neuropathologie, Klinikum Steglitz, Freie Universität Berlin, Germany.
Neuropediatrics. 1992 Dec;23(6):329-35. doi: 10.1055/s-2008-1071368.
The light- and electron-microscopical findings in the skeletal muscle and conjunctiva of 6 patients with Marinesco-Sjögren syndrome (MSS) were presented. All patients were related and showed the cardinal clinical symptoms of the syndrome: congenital cataracts, mental retardation, delayed statomotor development, and cerebellar ataxia. The most prominent alteration found in the skeletal muscle of four patients was extensive neurogenic atrophy with conspicuous groups of atrophic muscle fibers. Additional findings were vacuolar degeneration and secondary, unspecific changes like slight mitochondrial alterations and increased variability in muscle fiber calibers. The ultrastructural examination revealed double-membrane structures near to, but not in direct contact with the nucleus. The nuclear changes described earlier (7, 20) were not found in any of the cases. Conjunctival biopsies revealed a marked increase in the number of lysosomes in fibroblasts. In summary, to the well known myopathic damage of muscles in MSS a neurogenic component should be added. Disturbed lysosomal function is to be considered as the basic abnormality, though the enzyme defect has not yet been identified. In cases of clinically suspected MSS, examination of a conjunctival biopsy is highly recommended.
本文呈现了6例 Marinesco-Sjögren 综合征（MSS）患者骨骼肌和结膜的光镜及电镜检查结果。所有患者均有亲缘关系，并表现出该综合征的主要临床症状：先天性白内障、智力发育迟缓、运动发育延迟和小脑共济失调。在4例患者的骨骼肌中发现的最显著改变是广泛的神经源性萎缩，伴有明显的萎缩肌纤维群。其他发现包括空泡变性以及继发性非特异性改变，如轻微的线粒体改变和肌纤维直径变异性增加。超微结构检查显示靠近细胞核但不与之直接接触的双膜结构。在任何病例中均未发现先前描述的核变化（7, 20）。结膜活检显示成纤维细胞中溶酶体数量显著增加。总之，除了MSS中众所周知的肌肉肌病性损害外，还应增加神经源性成分。尽管尚未确定酶缺陷，但应考虑溶酶体功能障碍是基本异常。对于临床疑似MSS的病例，强烈建议进行结膜活检检查。
