脂质沉积性肌病(LSM)是指在肌肉中有异常含量的脂质沉积,且为主要的病理改变。本病为肌肉长链脂肪酸氧化过程缺陷所致的代谢性肌病,是神经系统脂肪代谢遗传性疾病的一种表现形式。
分析该病可能是一种线粒体肌病,属脂质沉积性肌病。
We thought that the "white-body" disease should be one of mitochondrial myopathy, was lipid storage myopathy.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
目的分析3例被误诊的脂质沉积性肌病的临床及病理特点,探讨脂质沉积性肌病被误诊的原因。
Objective to study the clinical and pathological features of 3 cases of misdiagnosised lipid storage myopathy (LSM), and further discover the reasons of diagnosis error in this disease.
应用推荐