Halbig L, Goebel H H, Hopf H C, Moll R
Division of Neuropathology, Johannes Gutenberg University, Mainz/FRG.
Rev Neurol (Paris). 1991;147(4):300-7.
The most striking pathological finding in the deltoid muscle biopsy specimens of 2 unrelated adult male patients consisted of large spheroid-cytoplasmic complexes of intricate structure, as previously described only under experimental conditions (Chou and Mizuno, 1986). These large cytoplasmic masses were characterized by a granular centre and a filamentous halo. Immunohistology revealed the presence of intermediate filaments of the desmin and vimentin types. Clinically, both patients showed mild and slowly progressive proximal myopathy of adult onset. In one patient, the myopathy was strongly suspected to be inherited. In concordance with previous reports on cytoplasmic and spheroid body congenital myopathies, these spheroid-cytoplasmic bodies further enlarge the spectrum of late onset congenital myopathies.
在2例无血缘关系的成年男性患者的三角肌活检标本中，最显著的病理发现是存在结构复杂的大的球状细胞质复合体，这种复合体此前仅在实验条件下被描述过（Chou和Mizuno，1986年）。这些大的细胞质团块的特征是有一个颗粒状中心和一个丝状晕圈。免疫组织学显示存在结蛋白和波形蛋白类型的中间丝。临床上，两名患者均表现为成年起病的轻度且进展缓慢的近端肌病。在一名患者中，强烈怀疑该肌病是遗传性的。与先前关于细胞质和球状体先天性肌病的报道一致，这些球状细胞质体进一步扩大了晚发性先天性肌病的范围。
