小梁纤维肌病临床病理研究

Clinical and pathological analysis of trabecular fiber myopathy

目的研究小梁纤维肌病(trabecularfibermyopathy,TFM)的临床和病理特征。方法回顾性分析9例TFM患者的临床资料,并结合文献对其病因、临床及病理特点进行分析。结果9例病例发病年龄2～37岁,平均19.7岁;男8例,女1例;主要表现为近端肌无力,症状较轻,进展缓慢,预后良好。其中2例临床诊断为面肩肱型肌营养不良,1例免疫组化染色证实为肢带型肌营养不良,余均未发现明确病因。结论TFM有其独特的病理改变和临床表现,可作为一种临床病理疾病名称,但是大部分病因不明。

Objective To analyze the clinical and pathological features of trabecular fiber myopathy （TFM）. Methods Clinical data of 9 patients with TFM were retrospectively analyzed and related articles were reviewed to explore the etiological,clinical and pathological characteristics of TFM. Results The onset age in 9 cases ranged from 2-37 years with an average of 19.7 years. There were 8 males and 1 female. Mild myasthenia of proximal limbs was a main presentation of TFM with progressine development and good prognosis usually. Two patients were diagnosed as facioscapulohumeral muscular dystrophy,one as limb-girdle muscular dystrophy and the others＇ etiology were unknown. Conclusions TFM has distinct clinical and pathological features ,but the etiology in most patients remains unknown.