Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis:A case report  

作　　者：Jian-Wei Wang Xiao-Bo Yuan Hong-Fang Chen 

机构地区：[1]Department of Neurology,Affiliated Jinhua Hospital,Zhejiang University School of Medicine,Jinhua 321000,Zhejiang Province,China [2]Department of Neurology,The First People's Hospital of Yongkang,Jinhua 321300,Zhejiang Province,China

出　　处：《World Journal of Clinical Cases》2023年第14期3275-3281,共7页世界临床病例杂志

基　　金：Supported by the Science and Technology Plan of Jinhua City,No.2020-3-026。

摘　　要：BACKGROUND Here,we present a unique case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS)syndrome,which initially appeared to be autoimmune encephalitis and was ultimately confirmed as MELAS with the mitochondrial DNA 3243A>G mutation.CASE SUMMARY A 58-year-old female presented with acute-onset speech impediment and auditory hallucinations,symmetrical bitemporal lobe abnormalities,clinical and laboratory findings,and a lack of relevant prodromal history,which suggested diagnosis of autoimmune encephalitis.Further work-up,in conjunction with the patient’s medical history,family history,and lactate peak on brain lesions on magnetic resonance imaging,suggested a mitochondrial disorder.Mitochondrial genome analysis revealed the m.3243A>G variant in the MT-TL1 gene,which led to a diagnosis of MELAS syndrome.CONCLUSION This case underscores the importance of considering MELAS as a potential cause of autoimmune encephalitis even if patients are over 40 years of age,as the symptoms and signs are atypical for MELAS syndrome.

关 键 词：MELAS Mitochondrial DNA mutation ENCEPHALITIS Case report 

分 类 号：R596[医药卫生—内科学]