儿童型脊髓性肌萎缩症的临床与病理研究

Clinico-Pathologic Features of Childhood Spinal Muscular Atrophy

目的 总结 4 2例儿童型 (I～III型 )脊髓性肌萎缩症 (SMA)的临床与病理特征 ,以探讨儿童型SMA临床与病理学特征及其意义。方法 收集 4 2例做过肌活检的SMAI～III型病例 ,进行临床、肌肉病理学 (常规组织学及组织化学方法 )分析。结果 不同型SMA临床各有特点 ,主要是病情轻重和起病年龄有关。起病越早者 ,病情越重。肌活检显示SMAI型为大组分布的圆形萎缩肌纤维 ,而非角形纤维 ,呈不完全同型肌群化 ,常累及整个肌束 ;SMAII型少见大组萎缩肌纤维 ,同型肌群化突出 ;SMAIII型病理变化多样 ,以同型肌群化为主。结论临床表现结合肌电图。

Objective To study the clinico pathologic features of childhood spinal muscular atrophy (SMA) and its significance. Methods The clinical and pathogic data of 42 patients with SMA Ⅰ Ⅲ were studied retrospectively. Routine histological and histochemical methods were used in muscular biopsy. Results The severity of the illness was positively related to the age of onset: the earlier the onset, the more serious the illness. There were different pathologic changes among the different types of SMA. SMA Ⅰ displayed large group round atrophic fibers and showed an incomplete type grouping; usually both type 1 and type 2 fibers were involved. The large group atrophic fibers were rarely found and the type grouping was obvious in SMA Ⅱ. The pathologic changes of SMA Ⅲ varied, and the type grouping was a major feature. Conclusions The diagnosis of SMA could be made by combining the clinical manifestation with electroencephalography and muscular biopsy.