MELAS误诊为单纯疱疹病毒性脑炎一例

MELAS mimicking herpes simplex encephalitis: one case report

线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)是母系遗传性线粒体疾病,临床表现多样,易与单纯疱疹病毒性脑炎(HSE)混淆。该文报道1例初诊时误诊为HSE的MELAS患者,该例患者因反复发热、头痛、肢体抽搐1个月,再发头痛1周就诊,入院时初步疑诊为HSE,予以抗病毒治疗无效,进一步行血液和尿液基因检测确诊为MELAS。MELAS可与不典型的HSE表现相似,应谨慎鉴别。脑脊液和(或)血清乳酸升高和基底节钙化有助于诊断MELAS,MELAS的线粒体DNA突变可通过血液和尿液基因检测,而不需要采用肌肉活组织检查这样的有创检查。

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes(MELAS) is a maternally inherited mitochondrial disease with diverse clinical manifestations, which is likely to be misdiagnosed as herpes simplex encephalitis(HSE). In this article, one case of MELAS who was initially misdiagnosed as HSE was reported. The patient was admitted due to recurrent fever, headache, limb convulsion for 1 month and recurrent headache for 1 week. Upon admission, the patient was suspected with HSE and untreated with antiviral therapy. Subsequent blood and urine genetic testing confirmed the diagnosis of MELAS. MELAS shares similar manifestations with atypical HSE, which should be differentiated with cautions. Elevated cerebrospinal fluid and/or serum lactic acid levels and basal ganglia calcification contribute to the diagnosis of MELAS. The mitochondrial DNA mutation in MELAS patients can be easily detected by the blood and urine genetic testing without the need for invasive procedures, such as muscle biopsy.