伴肌纤维坏死的脂质沉积性肌病8例临床与肌肉病理分析

目的探讨伴有肌纤维坏死的脂质沉积性肌病患者的骨骼肌病理改变及其临床特点。方法回顾性分析8例伴有肌纤维坏死的脂质沉积性肌病患者的肌肉组织病理改变和临床特点。结果 8例患者中上肢近端肌力3级以下者4例(其中2例伴呼吸肌受累),下肢近端肌力3级以下者6例;8例均伴有颈伸肌无力;8例患者除肌纤维内大量脂质沉积外,均伴有不同程度肌纤维变性坏死,其中5例偶见变性坏死肌纤维,坏死肌纤维比率0.1%~0.9%,病程较长且年龄偏大,有反复出现肌无力的病史;3例可见较多变性坏死纤维,坏死肌纤维比率>1.0%,病程较短、进展迅速且较年轻,其中2例免疫组织化学结果显示CD4(-)、CD8(-)、CD20(-)、CD68(+);3例基因检测显示ETFDH基因突变。结论部分脂质沉积性肌病患者的肌肉病理中可见变性坏死肌纤维,伴有明显肌纤维坏死者临床症状较重,病情进展较快。

Clinical and pathological analysis of lipid storage myopathy with muscle fiber necrosis in 8 cases

Objective To investigate the pathological changes of skeletal muscle and clinical characteristics of patients with lipid storage myopathy accompanied by muscle fiber necrosis. Methods The muscle pathological changes and clinical characteristics of 8 patients with lipid storage myopathy with muscle fiber necrosis were analyzed retrospectively. Results Among these 8 patients, 4 patients had upper limb proximal muscle strength below grade 3(2 of them had respiratory muscle involvement), and 6 patients had lower limb proximal muscle strength below grade 3. All were complicated with cervical extensor weakness. The muscle pathology presented varying degrees of necrosis and degeneration, besides a large amount of lipid deposition in muscle fibers, in which 5 patients were occasionally found 0.1% to 0.9% denatured and necrotic muscle fibers, and the patients had long clinical course, old age, and recurrent muscle weakness history. Three patients were found more denatured and necrotic fibers, with the proportion of necrotic muscle fibers of over 1.0%;they had short course, rapid progress, and young age;the immunohistochemical results of 2 patients showed CD4(-), CD8(-), CD20(-) and CD68(+). The genetic test showed ETFDH gene mutation in 3 patients. Conclusion In some patients with lipid storage myopathy, denatured and necrotic muscle fibers can be seen in muscle pathology. The patients with obvious muscle fiber necrosis have relatively severe clinical symptoms and rapid progress.