Clinical features of child mitochondrial encephalopathy with lactic acidosis and stroke with status epileptics

VernacularTitle: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
Author: Qiong FANG ; Lang CHEN ; Qiaobin CHEN ; Fang YANG
Publication Type:Journal Article
Keywords: mitochondrial encephalomyopathy; actic acidosis; stroke; status epileptics; child
From: Journal of Clinical Pediatrics 2015;(2):160-163
CountryChina
Language:Chinese
Abstract: 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.