以MELAS为表现的神经元核内包涵体病误诊分析  

Misdiagnosis Analysis of Neuronal Intranuclear Inclusion Disease with MELAS

作　　者：吴建伟 黄慧敏 邵硕[2] 赵昊天 

机构地区：[1]济宁医学院临床医学院(附属医院),山东 济宁 [2]山东第一医科大学附属济宁市第一人民医院放射科,山东 济宁 [3]山东第一医科大学(山东省医学科学院)研究生部,山东 济南 [4]山东第一医科大学附属济宁市第一人民医院神经内科,山东 济宁

出　　处：《医学诊断》2025年第1期33-37,共5页Medical Diagnosis

基　　金：济宁市重点研发计划项目(编号:2023YXNS117)。

摘　　要：文章报道了一例MRI以皮层肿胀为表现的神经元核内包涵体病。患者男,56岁,因精神异常和右侧肢体无力三天入院。左侧顶枕颞叶脑皮层肿胀,T1WI呈稍低信号,T2WI呈稍高信号,T2-FLAIR呈高信号,DWI呈高信号,MRS示宽大Lac峰,增强扫描示左侧大脑半球脑回样强化、脑膜强化。因其在DWI上缺乏沿着皮髓质交界区特征性的高信号,导致误诊,先后被误诊为脑膜脑炎及MELAS。后经基因检测确诊为神经元核内包涵体病。This paper reports a case of neuronal intranuclear inclusion disease characterized by cortical swelling on MRI. A 56-year-old male patient was admitted to the hospital due to mental disorders and right limb weakness for three days. The left parietal-occipital-temporal lobe cortex was swollen, T1WI showed a slightly low signal, T2WI showed a slightly high signal, T2-FLAIR showed a high signal, DWI showed a high signal, MRS showed a wide Lac peak, an enhanced scan showed left cerebral hemisphere gyrus-like enhancement and meningeal enhancement. Because of its lack of characteristic high signal along the corticomedullary junction on DWI, it was misdiagnosed as meningoencephalitis and MELAS. After genetic testing, it was diagnosed as neuronal intranuclear inclusion disease.

关 键 词：神经元核内包涵体病 皮层肿胀 磁共振成像 基因检测 

分 类 号：R74[医药卫生—神经病学与精神病学]