Gayathri N, Yasha T C, Vani S, Taly A B, Nalini A, Shankar S K
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Clin Neuropathol. 2010 Jan-Feb;29(1):36-40. doi: 10.5414/npp29036.
Skeletal muscle tissue from 3 patients with clinical diagnosis of limb girdle muscular dystrophy revealed a vacuolar myopathy with glycogen storage and lysosomal activity. A diagnosis of late onset GSD Type II was considered. An interesting finding was the presence of round to oval eosinophilic inclusions which reduced on menadione linked a-glycerophosphate dehydrogenase (MAG). There are only two reports in the literature describing similar inclusions in late onset GSD II. We report morphological findings of this rare disorder and compare the findings with earlier two reports.
对3例临床诊断为肢带型肌营养不良症患者的骨骼肌组织进行检查，发现有空泡性肌病伴糖原贮积和溶酶体活性。考虑诊断为晚发型II型糖原贮积病（GSD II）。一个有趣的发现是存在圆形至椭圆形嗜酸性包涵体，这些包涵体在与甲萘醌相关的α-甘油磷酸脱氢酶（MAG）作用下减少。文献中仅有两篇报道描述了晚发型GSD II中类似的包涵体。我们报告了这种罕见疾病的形态学发现，并将这些发现与之前的两篇报道进行了比较。
