论文部分内容阅读
目的探讨常染色体显性遗传的中央轴空病(CCD)的临床和病理特点。方法通过一个确诊的中央轴空病家系患者的临床表现和肌肉病理特点来回顾本病的临床特征,病理特点和发病机制。结果该家系患者的临床表现符合典型的CCD改变,但肌肉病理改变不是典型的中央轴空,而是以偏心轴空为主。结论常染色体显性遗传的CCD可自幼发病,表现为软婴儿,病程良性;病理上的偏心轴空提示RYR1基因突变可能不在C端热点区。
Objective To investigate the clinical and pathological features of autosomal dominant central axis disease (CCD). Methods The clinical features, pathological features and pathogenesis of this disease were reviewed through the clinical manifestations and muscle pathological features of a confirmed central axis family. Results The clinical manifestations of this pedigree were consistent with the typical CCD changes. However, the pathological changes of muscle were not typical of central axis but rather eccentric axis. Conclusion Autosomal dominant inherited CCD can be a disease of infancy, which manifests as soft infants with benign course. Pathological eccentricity may indicate that RYR1 gene mutation may not be located in the C-terminal hot spot.