5例脂质沉积病临床病理特点及误诊原因分析  

PATHOLOGICAL FEATURES OF 5 CASES OF LIPID STORAGE MYOPATHIES AND REASONS OF MISDIAGNOSIS

作　　者：林贞仿[1] 陈卉娇[2] 徐严明[1] 

机构地区：[1]四川大学华西医院神经内科,成都610041 [2]四川大学华西医院病理科

出　　处：《现代预防医学》2011年第11期2199-2200,2202,共3页Modern Preventive Medicine

摘　　要：[目的]分析脂质沉积病(LSMs)的临床、病理特点,同时探讨脂质沉积病(LSMs)误诊的常见原因。[方法]分析病理活检确诊为脂质沉积性肌病患者的临床特点、实验室检查、神经生理以及病理检查结果。[结果]脂质沉积性肌病的临床特点表现为肢体无力、运动不耐受和肌肉疼痛。肌酶谱轻至中度增高。神经电生理检查显示脂质沉积性肌病可以是肌源性、神经源性或混合性损害。5例均进行肌肉活检,其中1例同时行神经活检;5例病例病理光镜可见较多纤维(Ⅰ型纤维为主)内见大小不等空泡形成;油红染色(ORO)、苏丹黑染色见肌纤维(Ⅰ型肌纤维)内空泡形成,提示为脂类沉积。其中1例行神经活检,镜下见大小有髓神经纤维、无髓神经纤维密度均明显减少,提示慢性轴索变性改变(重度)。确诊的5例脂质沉积性肌病的病例中4例曾被误诊为"多发性肌炎",1例考虑进行性肌营养不良,但初诊时即行肌肉活检确诊。[结论]脂质沉积性肌病临床以肌无力、运动不耐受、肌肉疼痛为特点,电生理表现不具有特异性,因此易误诊为其他肌病或神经肌肉疾病,肌肉活检酶组化染色(油红、苏丹黑染色)可提供诊断的依据。[Objective]To analyze the clinical and pathological features of lipid storage myopathies（LSMs）,and try to find out the reason of misdiagnosis in this disease.[Methods]The clinical features,lab exams,electrophysiology and pathology of 5 patients diagnosed as LSMs demonstrated by biopsy were summarized.[Results]The clinical characters of LSMs were myasthenia as well as intolerance of exercises,and myalgia.The creatase increased slightly and even moderately.Electromyogram showed myogenic damage,neurogenic damage or mixed type of damage.The muscle pathology indicated different sizes of vacuolus in the muscle fibers.The ORO dyeing and Sudan Black staining of 5 patients showed amounts of lipid granule deposit in muscle fiber typeⅠ.The nerve pathology of 1 patient showed visible decrease in both myelinate nerve fibers and unmyelinate fibers,which indicated a severe damage in neuraxon..The LSMs was always misdiagnosed as polymyositis,or progressive muscular dystrophy.[Conclusion]LSMs presents with myasthenia,intolerance of exercises,and myalgia,which is easily misdiagnosed as other diseases.Muscle biopsy and enzyme histochemistry staining（ORO dyeing and Sudan Black staining）will supply demonstrations for correct diagnosis of LSMs.

关 键 词：脂质沉积性肌病 临床表现 病理特点 鉴别诊断 

分 类 号：R685[医药卫生—骨科学]