Clinical and pathological features of lipid storage myopathy:two cases report

Objective To study the clinical and pathological features of lipid storage myopathy(LSM).Methods Studying retrospectively the clinical data and laboratory results of 2 cases.Muscle biopsies were done with routine and histochemical staining.Results Weakness of the proximallimb muscles and fatigue were the prominent clinical manifestations.Serum muscle enzymes were slightly or moderately elevated,and EMG presented myogenic features primaryly,partly consistent with neurogenic features.Myopatholoical changes showed many vacuoles in the muscle fibers.Electron microscopic observation demonstrated excessive accumulatidn of lipid droplets.Mitochondria deformed by compression.Type I fibers were more severely affected.Treatment with glucocorticoid were effective.Conclusion Clinical manifestations and muscle enzymes examination are of great significance to the diagnosis of LSM.The definite diagnosis of this disease dependes on the muscle biopsy.When treated earlier,the effect is better.