Hsu Yu-Chuan, Yang Fu-Chi, Perng Cherng-Lih, Tso An-Chen, Wong Lee-Jun C, Hsu Chang-Hung
Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
J Emerg Med. 2012 Sep;43(3):e163-6. doi: 10.1016/j.jemermed.2009.10.021. Epub 2009 Dec 29.
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder with a wide range of multisystemic symptoms. Epileptic seizures are common features of both MELAS and meningoencephalitis and are typically treated with anticonvulsants.
To provide the reader with a better understanding of MELAS and the adverse effects of valproic acid.
A 47-year-old man with a history of diabetes, hearing loss, sinusitis, and otitis media was brought to our emergency department due to acute onset of fever, headache, generalized seizure, and agitation. Because acute meningoencephalitis was suspected, the patient was treated with antibiotics on an empirical basis. The seizure activity was aggravated by valproic acid and abated after its discontinuation. MELAS was suspected and the diagnosis was confirmed by the presence of a nucleotide 3243 A→G mutation in the mitochondrial DNA.
Detailed history-taking and systematic review help emergency physicians differentiate MELAS from meningoencephalitis in patients with the common presentation of epileptic seizures. Use of valproic acid to treat epilepsy in patients suspected of having mitochondrial disease should be avoided. Underlying mitochondrial disease should be suspected if seizure activity worsens with valproic acid therapy.
线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）综合征是一种罕见的线粒体疾病，具有广泛的多系统症状。癫痫发作是MELAS和脑膜脑炎的常见特征，通常用抗惊厥药治疗。
让读者更好地了解MELAS以及丙戊酸的不良反应。
一名47岁男性，有糖尿病、听力丧失、鼻窦炎和中耳炎病史，因发热、头痛、全身性癫痫发作和烦躁不安急性发作被送至我院急诊科。由于怀疑为急性脑膜脑炎，对患者进行了经验性抗生素治疗。丙戊酸使癫痫活动加重，停用后缓解。怀疑为MELAS，线粒体DNA中存在3243A→G核苷酸突变证实了诊断。
详细的病史采集和系统回顾有助于急诊科医生在癫痫发作常见表现的患者中鉴别MELAS和脑膜脑炎。应避免在怀疑患有线粒体疾病的患者中使用丙戊酸治疗癫痫。如果丙戊酸治疗使癫痫活动恶化，应怀疑潜在的线粒体疾病。
