脂质沉积性肌病(lipid storage myopathy,LSM)是常染色体隐性遗传病,指由于肌纤维内脂肪代谢障碍,致使肌细胞内脂肪堆积而引起的肌病,临床易被误诊,对激素治疗有效。现将我科收治的一例患者病例报告如下。患者男,16岁,主因进行性四肢肌无力4个月,加重3d于2006年3月16日入院。2005年10月底无诱因出现双下肢肌无力,行走易疲劳,未予重视。之后双下肢肌无力进行性加重,伴肌痛。2006年1月出现举臂困难,颈部酸困,吞咽、咀嚼无力,张口受限,活动后心悸、气促,行走困难。就诊于当地医院,予口服中药治疗,无效。3月13日上述症状加重,双下 Lipid deposition myopathy (LSM) is an autosomal recessive disease that refers to myopathy caused by accumulation of fat in muscle cells due to dyslipidemia in intramuscular fibers. It is easy to be misdiagnosed and effective for hormone therapy . Now we receive a case of patients reported as follows. Male patient, 16 years old, mainly due to progressive limb weakness for 4 months, increased 3d on March 16, 2006 admitted to hospital. At the end of October 2005 there was no incentive to lower extremity muscle weakness, fatigue and walking, did not pay attention. After both lower extremity weakness progressive aggravated, with myalgia. In January 2006, there was difficulty in raising the arm, the neck was sore, swallowing, weakness in mastication, limited mouth opening, palpitations, shortness of breath and difficulty in walking after activities. Visited the local hospital for oral Chinese medicine treatment, invalid. March 13 The above symptoms worsened, double down