期刊文献+

脂质沉积性肌病合并横纹肌溶解的临床与病理特征(附1例报告) 被引量:1

下载PDF
导出
摘要 目的研究脂质沉积性肌病(lipid storage myopathies,LSM)合并横纹肌溶解(rhabdomyolysis,RM)的临床与病理学特征。方法回顾性分析1例LSM合并RM患者的临床和病理学资料。结果本例患者青年起病,主要表现为运动不耐受,上消化道出血后病情加重,出现四肢近端肌无力,咀嚼、抬头困难,肌痛明显,一过性棕色尿。肌酸激酶(creatine kinase,CK)显著升高。肌电图示:肌源性损害。病理检查示:HE染色见大量筛状空泡纤维和坏死肌纤维,油红"O"(ORO)染色见脂滴显著增加。经糖皮质激素和左旋肉碱等治疗后,患者症状迅速缓解。结论 LSM患者短时间内出现肌无力明显加重伴棕色尿及CK显著升高,应考虑合并RM,肌活检示肌纤维内脂滴显著增加并出现大量坏死肌纤维是其肌肉病理特征。
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 2011年第7期421-422,共2页 Chinese Journal of Nervous and Mental Diseases
  • 相关文献

参考文献9

  • 1Bruno C, DiMauro S. Lipid storage myopathies [ J ]. Curr Opin Neuro1,2008,21 (5) :601 - 606.
  • 2Xavier Bosch, Esteban Poch, Josep M. Grau. Rhabdomyolysis and acute kidney injury[J]. N Engl J ivied ,2009,361 (1) :62 -72.
  • 3沈宏锐,胡静,赵哲,李娜,袁军辉,邴琪,张江涛.脂质沉积性肌病的临床及病理学特点[J].临床神经病学杂志,2009,22(3):178-180. 被引量:3
  • 4Engel AG, Franzini-Armstrong C. Myology[ M]. 3rd ed. New York : McGraw-Hill ,2004 : 1587 - 1621.
  • 5沈定国.肌肉疾病[M].第14卷.北京:人民军医出版社,2007:373-376.
  • 6Wen B, Dai T, Li W, et al. Riboflavin-responsive lipid-storage my- epathy caused by ETFDH gene mutations [ J ]. Neurol Neurosurg Psychiatry,2010,81 (2) :231 -236.
  • 7Giannoglon GD, Chatzizisis YS, Misirli G. The syndrome of rhabdomyolysis : pathophysiology and diagnosis [ J ]. Eur J Intern Med , 2007,18(2) :90 - 100.
  • 8Wrogemann K,Pena SD. Mitochon-drial calcium overload :a general mechanism for cell-necrosis in muscle diseases[J]. Lancet,1976, 1 (7961) :672 -674.
  • 9Warren JD, Blumbergs PC, Thompson PD Rhabdomyolysis : a review [ J ]. Muscle & Nerve ,2002,25 ( 3 ) : 332 - 347.

二级参考文献17

  • 1李志军,唐荣华,胡晓晴,唐娜.脂质沉积性肌病的临床、神经电生理和病理学特征[J].临床神经病学杂志,2006,19(6):450-452. 被引量:12
  • 2笪宇威,贾建平,李彦,王敏.原发性肉碱缺乏致脂质沉积性肌病的临床与病理特点[J].临床神经病学杂志,2007,20(3):191-193. 被引量:6
  • 3Bruno C, DiMauro S. Lipid storage myopathies [ J ]. Curr Opin Neurol, 2008, 21 : 601.
  • 4Bradley WG, Hudgson P, Gardner-Medwin D, et al. Myopathy associated with abnormal lipid metabolism in skeletal muscle [ J]. Lancet, 1969, 1:495.
  • 5Engel AG, Angelini C. Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome [J]. Science, 1973, 179:899.
  • 6Kaplan JC. Gene table of monogenic neuromuscular disorders ( nuclear genome only) [J]. Neuromuscul Disord, 2009, 19: 77.
  • 7Uppin MS, Sundaram C, Meena AK, et al. Lipid storage myopathies with unusual clinical manifestations [ J ]. Neurology India, 2008, 56: 391.
  • 8Bruno C, Bertini E, Di Rocco M, et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome [ J ]. Biochem Biophys Res Commun, 2008, 369: 1125.
  • 9Amat di San Filippo C,Taylor MR, Mestroni L, et al. Cardiomyopathy and carnitine deficiency [ J]. Mol Genet Metab,2008,94:162.
  • 10Gosalakkal JA, Kamoji V. Reye syndrome and Reyelike syndrome [ J]. Pediatr Neurol, 2008, 39 : 198.

共引文献2

同被引文献11

引证文献1

二级引证文献8

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部