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目的:通过报道2例少见的晚发型系统性肉毒碱缺乏的病例,分析其临床、电生理和病理特点,以期提高人们对这种少见但可治疾病的临床认识及诊断能力。方法:采用酶学方法进行血清肉碱测定,对双侧胫前肌、股四头肌、三角肌进行肌电图检查,对双腓总神经、双胫神经进行神经传导速度测定。对三角肌进行活检检查。结果:2例患者均为中年发病,进行性四肢近端无力,发作性肌肉易疲劳,血清肌酶增高,电生理为肌源性损害合并神经源性损害,肌肉病理显示肌纤维内大量的脂质颗粒沉积、Ⅰ型纤维受累为主,血清肉碱含量明显降低。诊断为脂质沉积性肌病,分型为系统性肉碱缺乏症(晚发型)。结论:病理检查是诊断与鉴别脂质沉积性肌病的重要方法之一,而血生化检测对其病因诊断的确定及选择适当的治疗则具有重要的临床意义。
OBJECTIVE: To assess the clinical, electrophysiological and pathological features of 2 rare cases of systemic systemic carnitine deficiency in late-onset patients with a view to increasing their awareness and diagnosis of this rare but manageable disease. Methods: Serum carnitine was determined by enzymatic method. Electromyography was performed on the bilateral tibialis anterior, quadriceps and deltoid muscles. The nerve conduction velocity was measured on the common bifocal and double tibial nerve. The deltoid biopsy. Results: All the 2 patients were middle-aged with progressive proximal limb weakness, episodic muscle fatigue, increased serum creatine kinase, and electrophysiological myogenic lesions with neurogenic lesions. The muscle pathology revealed a large amount of lipid in muscle fibers Particle deposition, type I fiber-based, serum carnitine content was significantly reduced. Diagnosis of lipid deposition myopathy, classification of systemic carnitine deficiency (late onset). Conclusion: Pathological examination is one of the important methods to diagnose and differentiate lipid deposition myopathy. However, blood biochemical detection has important clinical significance in the diagnosis of its etiology and proper treatment.