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中央轴空病2例临床及病理分析 被引量：2

Clinical and pathological analysis of central core disease in 2 cases
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摘要 目的探讨中央轴空病的临床及病理特点。方法开放式骨骼肌活检,组织化学染色,病理分析。结果细胞色素C氧化酶、琥珀酸脱氢酶、还原型辅酶、单磷酸腺苷脱氨酶染色,大量肌纤维中均可见中央轴空现象,ATPase染色(酸性、碱性)肌纤维类型分布异常,几乎全部为型肌纤维。结论中央轴空现象是中央轴空病的特征性病理改变,可合并单一型肌纤维肌病;骨骼肌活检、病理检查是确诊本病的重要手段。 Objective To investigate the clinical and pathological features of central core disease(CCD). Methods Skeletal muscle open biopsies,histochemical stains and the pathological analysis were performed. Results The Cytochrome C oxidase(CCO),Succinate dehydrogenase(SDH),Nicotinamide adenine dinucleotide -tetrazolium reductase(NADH-TR),Adenosine monophosphate(AMP deaminase) staining were perfomed,and the central core were observed in many muscle fibers. There are abnormal in the distribution of the fiber types,and almost all of the fibers were type I in the ATPase staining(acidity,alkali). Conclusion Central core is the characteristic pathological expression in the central core disease,and can complicate with the uniform type I fiber myopathy. Skeletal muscle biopsy,pathological analysis is an important method to make a definite diagnosis on this disease.
作者 殷飞 江新梅 胡静 李娜
机构地区 吉林大学第一医院神经内科 河北医科大学第三医院神经肌病科
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2006年第5期538-540,插页,共4页 Journal of Apoplexy and Nervous Diseases
关键词 中央轴空病 骨骼肌活检 中央轴空现象 单一Ⅰ型肌纤维肌病 Central core disease Muscle biopsy Central core Uniform type Ⅰ fiber myopathy
分类号 R746 [医药卫生—神经病学与精神病学]
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参考文献10

  • 1[1]Quinlivan RM,Muller CR,Davis M,et al.Central core disease:clinical,pathologieal,and genetic features[J].Arch Dis Child,2003,88(12):1051-1055.
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二级参考文献7

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共引文献3

同被引文献23

  • 1吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量：7
  • 2Quinlivan RM, Muller CR, Davis M, et al. Central core disease : clini- cal,pathological,and genetic features. Arch Dis Child,2003,8 (8) : 1051 - 1055.
  • 3Zhou H, Junqbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 2007,130 ( 8 ) :2024-2036.
  • 4Wu S, Ibarra MC, Malicdan MC,et al. Central core disease is due to RYRI mutations in more than 90% of patients. Brain, 2006, 129(6) : 1470-1480.
  • 5Sewry CA, Muller C, Davis M, et al. The spectrum of pathology in central core disease. Neuromuscul Disord ,2002,12 ( 10 ) :930-938.
  • 6Ghassemi F, Vukcevic M, Xu L,et al. A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium .2009.45 ( 2 ) : 192-197.
  • 7Zvaritch E, Kraeva N, Bombardie E, et al. Ca2 ^2+ dysregulation in Ryrl14895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. PNAS, 2009,12 (106) :21812-21828.
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  • 10Ramachandran S, Serohijos AW, Xu L. A Structural Model of the Pore-Forming Region of the Skeletal Muscle Ryanodine Receptor ( RyR1 ). PLoS Comput Biol,2009,5 ( 4 ) : 1-10.

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中风与神经疾病杂志
2006年 第5期

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