常染色体显性遗传性中央轴空病的临床表现和病理特点

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。

Clinical and pathological features of autosomal dominant inherited central core disease

Objective To study the clinical and pathological features of autosomal dominant （AD） inherited central core disease （CCD）. Methods Three cases of definite CCD coming from one AD inherited family were studied to analyze the clinical and pathological features. Clinical manifestations, pathological features and pathogenesis were reviewed in detail. Results The clinical features of the patients in this family were consist ent with typical CCD. But the central cores in muscle biopsy were atypical. Most of cores were located in the peripheral or subsarcolemmal areas. Conclusions AD inherited CCD may present since birth, has hypotonia dur ing infancy and has a non-progressive course. Atypical cores in muscle biopsy suggest the mutation in RYRI may not in the C terminal hot spot.