Micaglio G, Ceccato M B, Trevisan C, Angelini C
Clinica Neurologica, Università, Padova.
Riv Neurol. 1987 Jul-Aug;57(4):261-8.
A histo-morphometric analysis has been carried out in 23 muscle biopsies obtained from patients with congenital myopathies (6 nemaline m., 10 centronuclear m., 4 central core m., 3 multicore m.) in order to improve diagnosis and to confirm the data available in literature. No relationship has been found between the severity of the disease and the histo-pathological features as previously described. Nevertheless, the following pathological aspects diverge from previous reports: a) the absence of rods within the nuclei and of mitochondrial abnormalities in nemaline myopathy; b) the presence of type I fiber hypertrophy and of mitochondrial alterations in 30% of the patients with centronuclear myopathy; c) the presence of cores even in type II fibers, mitochondrial abnormalities, nucleosis, inflammatory cellular reaction and fibrosis in addition to the absence of rods in central core myopathy; d) the type I fiber hypertrophy in all patients with multicore myopathy.
为了改善诊断并确认文献中的现有数据，对23例先天性肌病患者（6例杆状体肌病、10例中央核性肌病、4例中央轴空病、3例多核性肌病）的肌肉活检样本进行了组织形态计量分析。未发现疾病严重程度与先前描述的组织病理学特征之间存在关联。然而，以下病理方面与先前报告不同：a）杆状体肌病中细胞核内无杆状体且无线粒体异常；b）30%的中央核性肌病患者存在I型纤维肥大和线粒体改变；c）中央轴空病除无杆状体外，II型纤维中也存在轴空、线粒体异常、核仁增多、炎性细胞反应和纤维化；d）所有多核性肌病患者均存在I型纤维肥大。
