脂质沉积性肌病临床与病理学分析

Clinical and pothological analysis of lipid storage myopathy

目的分析脂质沉积性肌病（lipid storage myopathy,LSM）临床和病理学特点。方法对采用肌肉酶组织化学染色方法诊断的53例LSM患者,收集临床资料、归纳分析其临床与病理特点。结果 53例患者中男性37例,平均发病年龄26.64±10.37岁;女性16例,平均发病年龄23.99±15.03岁,64.15%患者于冬春季节发病,以肢体近端无力（52.83%）、不耐受疲劳（22.64%）及肌痛（7.55%）为首发表现,血清CK波动于39.8-4609.6 U/L之间,平均1311.20±1147.50 U/L;乳酸脱氢酶（LDH）波动于94-5027.8 U/L,平均1286.30±2579.6 U/L;CK、LDH值与年龄、病程及起病年龄均无相关性（P〉0.05）。70.59%的患者肌电图呈肌源性损害;4.88%肌源性合并神经源性损害;24.53%肌电图正常。肌肉酶组织化学染色结果提示12例为重度LSM;13例为中度;28例为轻度。病理下肌纤维内大量空泡形成,两型纤维均可受累,以Ⅰ型为主。结论本组肌活检的LSM检出率为2.73%,男性占多数,散发为主,发病年龄及病程跨度较大,半数以上合并颈肌及球部肌无力,病理脂滴沉积现象越重肌酶水平越高。

Objective To analyze the clinical and pathological features of lipid storage myopathy（ LSM）. Methods Collect the clinical materials and analyze the feature and pathological characteristics of 53 LSM diagnosed by muscle routine and histochemical enzyme staining. Results The study involves in 53 LSM patients（ 37 male,16 female）,with mean onset age of 26. 64 ± 10. 37 years and 23. 99 ± 15. 03 years,respectively. The initial symptoms of LSM is myasthenia with proximal of extremities（ 52. 83%）,intolerance of exercises（ 22. 64%） as well as myalgia（ 7. 55%）,64. 15% patients with onset in winter or spring. Muscle enzymes elevate： CK fluctuate in 39. 8 - 4609. 6 U /L（ mean range： 1311. 20 ± 1147. 50 U /L）,LDH fluctuate in 94 - 5027. 8 U /L（ mean range： 1286. 30 ± 2579. 60 U /L）. The value of CK and LDH has no correlation with age,duration and onset age. Myogenic damage appeared in 70. 59% cases,mixed type of damage in 4. 88% cases and normal in 24. 53% cases. The muscle histochemical staining indicates 12 cases belong to severe-grade,13 cases were moderate,28 cases were mild. Muscle specimens showed numerous vacuoles accumulated in both types,with greater involvement of typeⅠ fibers. Conclusion The study with occurrence 2. 73% of LSM reveals that the majority of patients are male and sporadic. Onset age and duration are highly variable. Above 50% patients present with neck and bulbar muscle weakness. The severe the lipid droplets accumulate,the higher levels of muscle enzymes.