晚发型酸性麦芽糖酶缺陷病的肌肉酶组织化学和超微结构

Study on muscular enzymatic histochemistry and ultrastructure in late-onset acid maltase deficiency

目的 :探讨酸性麦芽糖酶缺陷病的肌肉酶组织化学和超微结构特点。方法 :用酶组织化学方法观察快速冷冻后的肌肉组织切片 ,用透射电镜观察其超微结构。结果 :①光镜下见大量空泡肌纤维 ,空泡内可见嗜碱性絮状或粗颗粒状物质 ,形成镶边空泡 ;②ATP酶染色示空泡主要累及Ⅱ型肌纤维。空泡化肌纤维的酸性磷酸酶活性明显增强 ,PAS阳性物质轻度增多 ;③电镜观察发现肌原纤维间大量糖原及髓样结构 ,外包单位膜。含变性线粒体及糖原颗粒的自噬空泡多见。在肌间毛细血管的周细胞和间质成纤维细胞内发现多个糖原积聚区。结论 :肌活检超微病理观察和酶组织化学检测对酸性麦芽糖酶缺陷病有明显的特异性 ,对本病的诊断有重要价值。

Objective:To investigate the features of the pathology and enzymatic histochemistry in late onset acid maltase deficiency.Methods:Enzymatic histochemical method and transmission electron microscopy were adopted in this study.Results:①A large number of vacuolated fibers were found in HE stain section;②ATPase stain showed that the vacuolated fibers belonged predominantly to type Ⅱ.The activity of acid phosphotase markediy increased in vacuolated fibers with ACP stain;③Electronic microscopic observation showed accumulation of glycogen with or without surrounding single membrane in sarcoplasm. Autophagic vacuoles containing degenerative mitochondria, myeloid structures and glycogen were frequently found. Glycogen accumulation were also seen in the pericytes of capillaries and fibroblasts in intramuscular tissues.Conclusion:The ultrastructure study indicates that multiple tissue cell types including pericytes of capillary and fibroblasts may be involved in acid maltase deficiency. Electronic microscopic observation and enzymatic histochemical stain are of great value in a definite diagnosis of this disease.