脂质沉积性肌病4例误诊分析  

Clinical analysis of misdiagnosis of lipid storage myopathy (report of 4 cases)

作　　者：李婉仪[1] 赵翠萍[2] 张成[1] 文剑明[3] 吴金浪[4] 

机构地区：[1]中山大学干细胞与组织工程研究中心,广东广州510080 [2]中山大学附属第一医院神经科,广东广州510080 [3]中山大学中山医学院病理学教研室,广东广州510080 [4]中山大学中山医学院电镜室,广东广州510080

出　　处：《中风与神经疾病杂志》2006年第6期718-721,共4页Journal of Apoplexy and Nervous Diseases

基　　金：国家自然科学基金(30370510);广东省自然科学基金(31693)项目

摘　　要：目的通过分析4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及与假肥大型肌营养不良、肢带型肌营养不良及多发性肌炎的鉴别诊断。方法分析4例脂质沉积性肌病患者的临床特点、实验室检查、肌活检资料,并复习相关文献。结果4例患者均以四肢近端无力为首发症状,被误诊为假肥大型肌营养不良、肢带型肌营养不良或多发性肌炎,经肌活检证实为脂质沉积性肌病。结论脂质沉积性肌病是由于长链脂肪酸代谢障碍导致的疾病,临床上应与相关肌病相鉴别,病理检查是确诊该病的主要根据。Objective To study the clinic and pathological features of 4 cases of lipid storage myopathy （LSM） and differential diagnosis with Duchenne/Becker muscular dystrophy,limb-girdle muscular dystrophies and polymyositis. Methods The clinical data and laboratory results of the 4 cases were collected,muscle biopsies were done with routine and histochemical staining. Results 4 patients presented proximal weakness as the first com plaint, all of whom were once mistakenly diagnosed as Duchenne/Becker muscular dystrophy,limb-girdle muscular dystrophies or polymyositis. They were determined to be LSM by muscle biopsies. Conclusion LSM is caused by abnormal long chain fatty acids metabolism, which should be differential diagnosed with related myopathy,its defi nite diagnosis is dependent on muscle biopsies.

关 键 词：脂质沉积性肌病 鉴别诊断 

分 类 号：R746[医药卫生—神经病学与精神病学]