Superneau D W, Wertelecki W, Zellweger H, Bastian F
Eur Neurol. 1987;26(1):8-16. doi: 10.1159/000116305.
Progressive muscular weakness, hypotonia and atrophy are among the cardinal signs of the Marinesco-Sjogren syndrome but have not been extensively investigated. Our study focused on 6 related patients who are members of an inbred population. Muscle biopsies revealed myopathic alterations with variation of fiber size, rounding, degeneration and regeneration of fibers, internalization of nuclei and endomysial fat and fibrosis. Most patients had elevated serum creatine kinase levels. One patient revealed endstage neuromuscular disease and had normal serum creatine kinase levels. Of particular interest was the finding of conspicuous myopathy in 2 young children. Thus far, it has not been appreciated that myopathy represents an early sign of the Marinesco-Sjogren syndrome.
进行性肌肉无力、肌张力减退和萎缩是马里内斯科-舍格伦综合征的主要体征，但尚未得到广泛研究。我们的研究聚焦于6名相关患者，他们是一个近亲群体的成员。肌肉活检显示肌病性改变，包括纤维大小变化、纤维变圆、变性和再生、核内移以及肌内膜脂肪和纤维化。大多数患者血清肌酸激酶水平升高。一名患者表现为终末期神经肌肉疾病，血清肌酸激酶水平正常。特别值得关注的是，在2名幼儿中发现了明显的肌病。迄今为止，尚未认识到肌病是马里内斯科-舍格伦综合征的早期体征。
