临床误诊误治Issue(4)：38-41,4.DOI:10.3969/j.issn.1002-3429.2015.04.010
线粒体脑肌病伴高乳酸血症和卒中样发作综合征误诊为病毒性脑炎回顾分析
A Retrospective Analysis on a Case Misdiagnosed as Viral Encephalitis:Mitochondrial Encephalomyopathy with Lac-tic Acidosis and Stroke-like Episodes
摘要
Abstract
Objective To explore the causes of misdiagnosis of mitochondrial encephalomyopathy and the key points of differential diagnosis. Methods A retrospective analysis of the clinical data of 2 cases of misdiagnosis of ME was conduc-ted. Results The 2 cases were mother and daughter. Case 1 ( mother) , admitted for gibberish, sleepless, and epileptic epi-sodes, paroxysmal unconsciousness for 17 years, and initially misdiagnosed as viral encephalitis according to headache, sei-zures, EEG slow wave increase, the head CT scanning and normal results of cerebrospinal fluid routine examination, was diag-nosed as symptomatic epilepsy and encephalitis, and the patients received symptomatic treatment. Those symptoms relapsed, until the daughter's onset 14 years later. The lactic acid in blood was 7. 8 mmol/L, the disease was suspected as family heredi-ty disease, and was diagnosed as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes ( MELAS);case 2 ( daughter) suffered paroxysmal unconsciousness on admission and upon onset of the disease according to the clinical symptoms and related consideration of symptomatic epilepsy, encephalitis, symptomatic treatment, recurrent symptoms, in the course of multiple cranial imaging examination showed the lesion was wandering, and was found in blood lactic acid 6. 6 mmol/L, and the family history showed that the mother also had the same symptoms, and was suspected as family heredity disease, but genetic testing, muscle biopsy and pathological examination confirmed the diagnosis of MELAS. In the two cases after the treatment, the patients were in stable condition. Conclusion ME can develop in multi-system disease and have dif-ferent manifestations on each attack. It is easy to mistake the MELAS in the nervous system with viral encephalitis, and misdi-agnosis, but differential diagnosis can be made based on the serum lactate levels, imaging, gene detection, pathological exam-ination of muscle, previous history and family history. Serum lactate, previous history and family history should be considered in screening to prevent misdiagnosis.关键词
线粒体脑肌病/MELAS综合征/误诊/癫痫/脑炎,病毒性Key words
Mitochondrial encephalomyopathies/MELAS syndrome/Diagnostic error/Epilepsy/Encephalitis, viral分类
医药卫生引用本文复制引用
夏海平,赵康仁,于明,牛丰南,孟凡青..线粒体脑肌病伴高乳酸血症和卒中样发作综合征误诊为病毒性脑炎回顾分析[J].临床误诊误治,2015,(4):38-41,4.基金项目
国家自然科学基金青年项目(81300977) （81300977）
镇江市社会发展项目(SH2014062) （SH2014062）
