Sekijima Y, Ikeda S, Katai S, Matsuda M, Hashimoto T, Haruta S, Owa M, Sakai T, Takeda S, Yanagisawa N
Third Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto.
Intern Med. 1995 Mar;34(3):166-70. doi: 10.2169/internalmedicine.34.166.
A patient with cytoplasmic body myopathy presented muscle hypotonia from birth and developed progressive muscular atrophy and weakness, scoliosis, contracture of joints and cardiorespiratory failure. At the age of 17, he died of heart failure. Post mortem examination revealed severe hypertrophy of cardiac walls and generalized muscular atrophy. Microscopic examination showed many cytoplasmic bodies in skeletal muscle fibers and myofiber disarray in myocardium. No cases of cytoplasmic body myopathy with hypertrophic cardiomyopathy have been reported previously. It is suggested that the Z-line component is related to the formation of the cytoplasmic body in skeletal muscle and disarray in the cardiac muscle.
一名患有细胞质体肌病的患者自出生起就出现肌张力减退，并逐渐发展为进行性肌肉萎缩和无力、脊柱侧弯、关节挛缩及心肺功能衰竭。17岁时，他死于心力衰竭。尸检显示心脏壁严重肥厚及全身性肌肉萎缩。显微镜检查发现骨骼肌纤维中有许多细胞质体，心肌中有肌纤维排列紊乱。此前尚未有关于细胞质体肌病合并肥厚型心肌病的病例报道。提示Z线成分与骨骼肌中细胞质体的形成及心肌排列紊乱有关。
