脑腱黄瘤病的超微病理形态学电镜观察

Electron microscopic observation of ultrapathological morphology of cerebrotendinous xanthomatosis

目的:应用电镜观察一例罕见的脑腱黄瘤病(cerebrotendinous xanthomatosis,CTX)的超微病理形态学特点。方法:患者腓肠神经、骨骼肌及肌腱黄瘤组织活检标本经过固定、脱水及树脂包埋后,制备半薄切片在光镜下定位后再切超薄切片,电镜观察。结果:电镜下外周腓肠神经主要为有髓神经纤维明显减少,呈脱髓鞘现象;横纹肌细胞直径不等,肌丝结构紊乱,胞浆内见大量脂滴;腱黄瘤细胞胞浆内沉积许多长针形和杆状胆固醇结晶。结论:电镜观察CTX患者的腓肠神经、骨骼肌及腱黄瘤组织细胞所呈现的典型的超微病理形态学特征可为这种罕见疾病的临床病理诊断提供有价值的依据。

Objective：To observe the ultrapathological morphological characteristics of a rare case of cerebrotendinous xanthomatosis （CTX） by using transmission electron microscope（TEM）. Methods：Biopsy specimens of sural nerve, skeletal muscle and xanthoma tissue were collected and fixed immediately after operation. The uhrathin sections were prepared as routine and observed under TEM. Results：Under TEM, the peripheral sural nervous exhibited marked decrease in number of myelinated fibers and proliferation of Schwann cell. A large number of lipid droplets appeared in the cytoplasm of disorder striated muscle ceils with severe disorganization of myofibre. Various number of cholesterol crystals in the shape of long needle and club deposited in the cytoplam of tendon xanthoma cells. Conclusion：The typical ultrapathological changes of peripheral nerve, skeleton muscle and tendon xanthoma of CTX patient observed by using TEM provide a valuable morphological evidence for clinical pathological diagnosis of this rare disease.