中枢神经系统血管炎与线粒体脑肌病的诊断与鉴别诊断

目的:比较中枢神经系统血管炎(central nervous system vasculitis,CNSV)与线粒体脑肌病(MELAS型)临床及影像学特点,分析二者的鉴别诊断特点.方法:回顾性分析我科收治的7例CNSV患者和5例线粒体脑肌病(MELAS型)患者的临床资料,比较二者临床表现、实验室检查指标、影像学表现及组织学分析的特点,筛选二者的鉴别诊断要点.结果:CNSV患者和线粒体脑肌病(MELAS型)患者头颅MRI检查均为多发病灶.CNSV临床表现以头痛、肢体无力及变态反应改变为主;线粒体脑肌病(MELAS型)以癫NFDA9发作、血清乳酸升高为主要特点.两组疾病的脑电图均异常:CNSV患者以弥漫损害为主,伴局限性改变;线粒体脑肌病患者可捕捉到NFDA9性放电证据,与临床表现基本一致.结论:CNSV和线粒体脑肌病的临床鉴诊较影像学更有意义,CNSV表现为血管病损害和炎症反应,线粒体脑肌病表现为能量代谢障碍,脑灰质损害更为突出,最终诊断依赖于实验室和组织学检查.

Differential diagnosis of central nervous system vasculitis and mitochondrial encephalomyopathy

Objective:To compare the clinical and imaging characteristics between central nervous system vasculitis(CNSV)and mitochondrial encephalomyopathy (ME),so as to analyze the differential diagnosis of the two disorders.Methods: Clinical data on seven patients with CNSV and five with ME were retrospectively analyzed.The clinical manifestations,laboratory parameters,imaging features and histological characteristics were compared to screen for the evidence of their differential diagnosis.Results: The MRI results of both CNSV patients and ME patients (MELAS type) showed a multi-lesion pattern.The symptoms of CNSV patients included headache,limbs weakness,and erythrocyte sedimentation rate (ESR) increase.The symptoms of MELAS patients included epilepsy and increased serum lactic acid.The electroencephalographic manifestations of both diseases were abnormal:CNSV patients mainly had diffused lesions accompanied with limited alterations; ME patients had evidence of epileptic discharge,which was consistent with the clinical symptoms.Conclusion: Clinical manifestations of CNSV and ME patients are more valuable than imaging findings in the diagnosis of the two diseases.CNSV is characterized by vascular disorders and inflammatory reactions; ME is characterized by abnormal energy metabolism and severe damage of gray matter.The final diagnosis should depend on laboratory and histological examinations.