Perkins D G, Haust M D
Virchows Arch A Pathol Anat Histol. 1982;394(3):195-205. doi: 10.1007/BF00430665.
Cardiac tissues obtained at post mortem examination of eight patients with the Hurler syndrome, who ranged in age from 5 to 23 years, were examined by histochemical methods and electron microscopy. Extensive myocardiocytic vacuolization and increased interstitial fibrous tissue were noted by light microscopy in all hearts. The cytoplasmic (perinuclear) vacuoles contained Luxol-fast-blue-positive substance. At the ultrastructural level, abnormal cytoplasmic organelles were present within the myocardiocytes in all patients. These organelles were of three types: zebra bodies (ZB), membranous cytoplasmic bodies (MCB) and granulomembranous bodies (GMB). As ZB and MCB are believed to represent the morphological counterpart of accumulated gangliosides, these substances rather than glycosaminoglycans appear to be stored within myocardiocytes of patients with the Hurler syndrome. The accumulation of gangliosides and the consequent damage to the myocardial substratum probably contributes to the clinically evident cardiac disease, so often observed in the patients with this disorder.
对8例年龄在5至23岁之间的黏多糖贮积症Ⅰ型（Hurler综合征）患者进行尸检时获取的心脏组织，采用组织化学方法和电子显微镜进行了检查。所有心脏的光镜检查均发现广泛的心肌细胞空泡化和间质纤维组织增多。细胞质（核周）空泡含有卢氏固蓝阳性物质。在超微结构水平上，所有患者的心肌细胞内均存在异常的细胞质细胞器。这些细胞器有三种类型：斑马体（ZB）、膜性细胞质体（MCB）和颗粒膜体（GMB）。由于ZB和MCB被认为代表了累积神经节苷脂的形态学对应物，这些物质而非糖胺聚糖似乎贮积在黏多糖贮积症Ⅰ型患者的心肌细胞内。神经节苷脂的累积以及随之对心肌基质造成的损害可能导致了临床上常见的心脏疾病，这种疾病在该病症患者中经常被观察到。
