摘要
目的探讨MELAS患者的临床与病理特点。方法收集35例MELAS患者的人口学资料、症状、体征、血清肌酶、影像学资料及肌肉酶组织化学检查结果资料。结果 80%MELAS患者均在30岁以前发病,病程中位数2年,起病方式包括急性、亚急性和慢性。最主要首发症状为癫痫发作(48.6%),最主要临床表现则是癫痫发作(71.4%)、智能减退(40.0%)、听力下降(34.3%)、肌肉无力(28.6%)等。MELAS患者肌酶轻至中度升高,乳酸丙酮酸试验阳性率93.8%;肌电图主要表现为正常或肌源性受损,影像学检查表现为不同脑叶T2和DWI高信号、T1低信号改变。骨骼肌病理以Gomori染色发现破碎红纤维为特征性表现。结论 MELAS可发生于任何年龄,临床表现具有特殊性,脑磁共振、肌肉酶组织化学检查有助于诊断。
Objective To investigate the clinical and pathological features in patients with mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes （MELAS）. Methods Thirty-five patients with MELAS were studied about their demographic data, symptoms, signs, serum enzymes, imaging data and pathology. Results 80% of MELAS started before 30 years old. The median duration of disease was 2 years. There were various clinical presentations in MELAS. The most common first symptom was seizure （48.6%）, the most common clinical manifestations were seizure （71.4 %）, hypophrenia （40.0 % ）, hearing loss （34.3 %） and muscle weakness （28.6%）. Blood creatine kinase （CK） and lactate dehydrogenase （LDH） increased mildly. The positive rate of the minimum exercise test of lactic acid and pyruvic acid （METLP） was 93.8%. Electromyography （EMG） was normal or revealed myopathic change, nonspecific change or neurological change. The brain imaging showed high T2 and DWI, low T1 signaIs in different cerebral lobes. Muscle biopsy showed ragged red fibers （RRF） in all the patients by modified Gomori-trichrome. Conclusions MELAS can occur at any age of onset. MELAS has shown various clinical presentations. The brain MRI, muscle biopsy and EMG often help confirm the diagnosis of MELAS.
出处
《中国神经免疫学和神经病学杂志》
CAS
2015年第5期325-329,共5页
Chinese Journal of Neuroimmunology and Neurology
