脂质沉积性肌病（附6例临床与肌肉病理观察）

Lipid storage myopathy:Clinical and muscle pathological observation in 6 cases

６例脂质沉积性肌病经肌肉组化检查确诊，其中２例做了电镜观察。年龄在３～３５岁之间，４例有家族史，均在同辈人发病，属常染色体隐性遗传。肌活检油红Ｏ染色示大量脂滴在肌浆中沉积，Ⅰ型纤维中含量最多，Ⅱ型其次。电镜观察见大量无膜脂滴平行分布于肌原纤维间，线粒体增多，其嵴不清晰。病人皆无全身性症候，故以肉硷缺乏致病可能性最大。６例对强地松疗效均满意。

AbstractSix patients with lipid storage myopathy were diagnosed by muscle biopsy,2 specimens were investigated with electron microscope. Their ages ranged from 3 to 35 years.We found that fami- ly history was positive in 4 patients. The sufferers were in the same generation of the probands. Data suggest autocomal recessive heredity.Oil red O stain of muscle biopsy in each patient re- vealed a large amount of lipid droplets in sarcoplasm. Lipid accummulation was most marked in type Ⅰ fibers and less marked in tyⅡe Ⅱ A and Ⅱ B fibers. By electronmicroscopy,there were ex-cessive lipid droplets between myofibrils in pdrallel rows.Mitochondria were increased in number with poorly defined cristae. Because there were no systemic symptoms and signs,deficiencx of mus-cle carnitine may be the cause in these cases.Ptednisone has been recommended for treatment and satisfactory response was obtained in our patients.