以癫痫持续状态起病的线粒体脑肌病伴乳酸血症和卒中样发作患儿临床特点

摘要

目的：探讨线粒体脑肌病合并乳酸血症与卒中样发作(MELAS)出现癫痫持续状态患儿的临床特点及治疗。方法回顾性分析4例以癫痫持续状态起病并最终确诊为MEILAS患儿的临床、脑电图、影像学及治疗。结果4例患儿均以癫痫持续状态起病，血清乳酸、血氨、心肌酶升高，血钠降低，伴代谢性酸中毒；发作期及发作间期脑电图均有相应表现；头颅影像学发现基底节钙化、脑萎缩，急性期可见皮层水肿；基因检测提示mtDNA3243位点突变。结论MELAS的癫痫发作较难控制，应尽早诊断，选择合适的抗癫痫药物及相关对症治疗，以减轻脑损伤。%Objective To investigate the clinical features and treatment of a group of patients of mitochondrial encepha-lomyopathy with actic acidosis and stroke (MELAS) with onset of status epileptics. Methods Clinical features, EEGs, image ifndings, and therapeutic data of 4 cases with onset of status epileptics patients ifnally diagnosed as MELAS were retrospectively reviewed. Results Four Patients were onset with status epileptics. The levels of serum lactic acid, ammonia, myocardial enzymes were increased, and the serum sodium level was reduced, and accompanied with metabolic acidosis. EEG found corresponding paroxysmal and interictal activities. Brain images showed basal ganglia calciifcation, brain atrophy, and acute cortex edema. Genetic detection found mtDNA3243 mutation. Conclusions The status epilepticus was commonly present in MELAS. The treatment of epileptic attack in this disease was dififcult, which needs early diagnosis. Appropriate anti-leptic drugs and relevant treatment to symptoms are important to alleviate cerebral injury.