MELAS伴反复发热三例

MELAS type mitochondrial encephalomyopathy complicated with repeated fever in 3 cases

线粒体脑肌病是一种临床少见的疑难病,线粒体脑肌病合并乳酸血症和卒中样发作(MELAS)是线粒体脑肌病中最常见的一种,其表现复杂多变,临床易误诊。有文献报道,部分患者以发热、头痛起病。MELAS出现发热的机制可能与感染和癫痫发作有关,也可能为病变累及下丘脑。该文报道了MELAS伴反复发热的3例患者,其均有抽搐发作病史,初诊时均被诊断为病毒性脑炎,均经基因检测明确诊断为MELAS,经抗癫痫、营养神经及对症治疗后均好转出院。

Mitochondrial encephalomyopathy is a rare and complicated disease in clinical practice. Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is the most common type of mitochondrial encephalomyopathy. MELAS is characterized with complex and changeable manifestations, which is likely to be misdiagnosed in clinical settings. Certain patients have fever and headache as the onset symptoms. The potential mechanism of fever in MELAS is probably correlated with infection and seizures or the lesions invading into the hypothalamus. In this article, 3 MELAS patients with recurrent fever were reported. All of them had a medical history of seizures and initially suspected with viral encephalitis. The diagnosis of MELAS was confirmed by gene detection. All patients were recovered and discharged after anti-seizure, nerve nutrition and symptomatic treatment.