脂质沉积性肌病的临床和病理特点

作者单位:100730北京,中国医学科学院中国协和医科大学北京协和医院神经内科・论著・

脂质沉积性肌病的临床和病理特点

陈琳　郭重　郭玉璞　刘兴洲　任海涛　高淑芳

【摘要】　目的　从临床和肌肉病理的角度分析脂质沉积性肌病(L SM)的特点。方法　收集20例L SM病人的临床资料,并做肌肉活检,采用常规组织学方法和组织化学方法染色,并在电镜下观察。结果　结合临床和病理特点可将病例分为两组,第一组为急性或亚急性起病,四肢近端肌无力,肌酶谱明显升高,对激素治疗敏感;第二组呈慢性迁延性病程,表现肌无力和对运动不耐受,对激素治疗不敏感,肌纤维内线粒体异常比较明显。对20例病人的肌肉活检发现I型肌纤维为主的肌纤维空泡样变,油红“O”染色示脂滴明显增多,电镜也证实肌纤维内脂滴堆积,部分病例伴有异常线粒体增多。结论　脂质沉积性肌病是一组生化方面十分复杂的疾病,属于线粒体肌病的一个类型,临床上以不能耐受运动和近端肌无力为主,病程呈波动性,部分可有自发缓解,肌肉病理检查有助于确诊。两组的临床病理差异可能提示脂肪代谢障碍的不同环节或不同酶的缺陷。

【关键词】　肌病 线体粒 肉碱

Clinical and pathological features of lipid storage myopathy　Chen L in,Guo Zhong,Guo Y upu,et al. Depart ment of Neurology,Peking U nion Medical College Hospital,Beijing100730【Abstract】　Objective　To study20cases of lipid storage myopathy(L SM)and to analyze them in clinical and pathological fields.Methods　The clinical data of the20cases were collected and muscle bio p2 sies were done with routine and histochemical staining.Light and electron microscopic studies were made. R esults　Combining clinical characters with pathologic changes,we divided these cases into two groups. The first group were acute or subacute onset.Muscle weakness occurred with increased muscle enz ymes in the plasma.This group had dramatic res ponses to corticosteroid therapy.The second group were of chronic courses marked fatigue and muscle weakness.They were not sensitive to corticosteroid thera py.Mitochon2 drial abnormalities were obvious in this group.Muscle biopsies showed many vacuoles in the muscle fibers, especially in the type I fibers,with ORO staining positive.Electron microscopic observation demonstrated excessive accumulation of lipid droplets and with abnormal mitochondria in some cases.Conclusions　L SM was a complex disease.It was considered to be a subgroup of mitochondrial myopathies.Fatigue and muscle weakness were the prominent symptoms with recurring courses in most cases.Muscle biopsy were of use to make the definite diagnosis of this disease.

【K ey w ords】　Myopathy Mitochondria Carnitine

脂质沉积性肌病(lipid storage myopathy, L SM)是指由于肌纤维内脂肪代谢障碍,致使肌细胞内脂肪堆积而引起的肌病。自70年代起,文献中陆续对L SM的临床病理表现有不少描述[1～7],并先后确定了肌肉组织中肉毒碱(Carnitine)缺乏症[3]、肉毒碱棕榈转移酶(CPT)缺乏症[5]、乙酰辅酶A脱氢酶缺乏症[8,9]以及肌腺苷脱氨酶(MADA)、细胞色素C氧化酶(COX)等其他线粒体酶缺陷对脂肪代谢的影响。我们报道一组L SM,从临床和病理的角度进行分类,旨在为诊断和治疗这组代谢性疾病提供参考。

资料和方法

一、病例选择

经临床病理诊断的L SM共20例,其中男性12例,女性8例,发病年龄2～50岁,其中20岁以下8例,20～40岁7例,40岁以上5例。均符合:(1)临床和实验室检查符合近端为主的肌病。(2)肌肉病理显示肌纤维内脂滴明显增多,不伴有其他特征性的病理改变。(3)临床排除其他引起脂肪代谢障碍的疾病,如肝病、肾病、酒精中毒等。(4)无其他脏器损害,基本除外系统性脂肪代谢障碍。

二、肌肉病理检查方法

11肌肉活检标本,用经液氮冷却的异戊烷固定,冰冻切片,做下列染色:苏木素2伊红(HE)、改良

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中华神经科杂志1998年6月第31卷第3期