CAJ | 학술논문

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。
목적：탐토선립체뇌기병합병유산혈증여졸중양발작(MELAS)출현전간지속상태환인적림상특점급치료。방법회고성분석4례이전간지속상태기병병최종학진위MEILAS환인적림상、뇌전도、영상학급치료。결과4례환인균이전간지속상태기병，혈청유산、혈안、심기매승고，혈납강저，반대사성산중독；발작기급발작간기뇌전도균유상응표현；두로영상학발현기저절개화、뇌위축，급성기가견피층수종；기인검측제시mtDNA3243위점돌변。결론MELAS적전간발작교난공제，응진조진단，선택합괄적항전간약물급상관대증치료，이감경뇌손상。
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.