线粒体肌病伴脂质沉积

目的 :为了了解线粒体肌病与脂质累积性肌病的关系 ,我们观察了 2 9例线粒体肌病和 36例脂质累积性肌病的临床表现和肌肉病理改变 ,分析二者之间的异同和相互关系。方法 :应用组织学和组织化学方法 ,对 6 5线粒体肌病和脂质累积性肌病的肌肉活检标本进行观察。结果 :2 9例线粒体肌病或线粒体肌脑病肌肉活检中 ,12例伴有脂滴轻 -中度增多。 36例脂质累积性肌病中 ,绝大多数表现为单纯肌病 ,6例合并周围神经病 ,9例肌肉活检除脂滴大量堆积在纤维内以外 ,有不典型的 RRF。结论 :部分线粒体肌病和脂质累积性肌病的肌肉组织中可见线粒体异常和脂滴增多并存 ,说明线粒体异常会导致不同程度的脂肪代谢障碍。脂肪代谢障碍是导致肌肉无力的一个重要原因

Mitochondrial myopathies with lipid storage

Objective:To investigate the relations between mitochondrial myopathy(MM) and lipid storage moypathy (LSM), 29 cases of MM and 36 cases of LSM were reviewed in their clinical features and muscle pathological changes. Methods: 65 muscle specimens of MM and LSM were analyzed with histochemical staining and electron microscopy. Results: 29 cases of MM were diagnosed by the existence of typical RRF in the muscle. 12 of them also had lipid storage mild to moderatly, Reversely, RRF like fibers were seem in 9 of 36 cases of ISM. The clinical features of MM were variety inecluding MELAS, KSS, MRRF, CEOP or myopathy associated with peripheral neuropathy. Most cases of LSM are characterized by the muscle weakness and movement intolerance. Conclusion: Some of MM and LSM have the coexistence of mitochondria abnormalities and amount of lipid droplets in muscle fibers. The lipid metabolism depend upon the function of mitochondria. The disturbace of the lipid metabolism is one of the causes of muscle weakness.