儿童线粒体脑肌病伴高乳酸血症和卒中样发作的临床特点  

The clinical features of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes in children

作　　者：林蓓蓓[1] 张烨安 苏娜娜 潘国权[1] Lin Beibei;Zhang Yean;Su Nana;Pan Guoquan(Pediatric Intensive Care Unit,The Second Affiliated Hospital,Yuying Children′s Hospital of Wenzhou Medical University,Wenzhou 325000,China)

机构地区：[1]温州医科大学附属第二医院,育英儿童医院儿童重症医学科,325000

出　　处：《中国小儿急救医学》2022年第12期989-993,共5页Chinese Pediatric Emergency Medicine

基　　金：浙江省卫生健康科技计划(2022KY902);温州市科技计划项目(Y2020070)。

摘　　要：目的分析儿童线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的临床表现、血生化、影像学和基因学检测特点,为儿童MELAS的诊断提供依据,减少误诊。方法回顾性分析温州医科大学附属第二医院2000年1月至2020年12月收治的MELAS患儿的临床资料,选取同期健康体检儿童作为对照组。比较两组临床资料,并分析MELAS患儿的临床表现、血生化、心电图、心脏超声、头颅影像学和基因学检测等特点。结果MELAS组患儿共8例,其中男3例,女5例,平均发病年龄(9.90±3.89)岁。对照组儿童共8例,其中男4例,女4例,平均年龄(7.92±2.51)岁。8例MELAS患儿中,呕吐6例,癫痫8例,头痛5例,存在生长发育落后2例,智力落后1例,糖尿病1例,周围神经病变1例。MELAS组患儿乳酸、乳酸脱氢酶、肌酸激酶、丙酮酸高于正常范围,较对照组升高,差异均有统计学意义(P<0.05)。8例MELAS患儿均可见脑部核磁共振异常,其中5例患儿病变位于大脑皮质,多发生在顶枕颞叶,1例患儿病变位于基底节区,2例同时有皮层及基底节区病变。5例头颅磁共振波谱成像示乳酸峰倒置,呈双峰改变。8例MELAS患儿脑电图均提示背景活动慢波化,2例患儿可见痫样放电。7例MELAS患儿存在mtDNA位点m.3243A>G突变,1例存在m.8344A>G突变。8例患儿均采用对症支持治疗,随访3~5年,多因类似主诉反复住院,病程迁延、反复,住院治疗1周左右多可症状缓解出院。结论儿童MELAS的临床表现多样,早期诊断困难。血生化、影像学特点和基因学检测结果有助于早期诊断、早期治疗,延缓疾病进展。Objective To analyze the clinical manifestations,blood biochemistry indexes,imaging and genetic characteristics of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes(MELAS)in children,so as to provide the basis for the diagnosis of MELAS and reduce the misdiagnosis rate.Methods The clinical data of children with MELAS admitted to the Second Affiliated Hospital of Wenzhou Medical University from January 2000 to December 2020 were retrospectively analyzed,and healthy children undergoing physical examination during the same period were selected as control group.The clinical data were compared between two groups,and the clinical manifestations,blood biochemistry indexes,electrocardiogram,cardiac ultrasound,cranial imaging and genetic testing were analyzed.Results A total of eight children in MELAS group were collected,including three males and five females.The average age of onset was(9.90±3.89)years.There were eight children in control group,including four boys and four girls,with an average age of(7.92±2.51)years.Among the eight children with MELAS,there were six cases of vomiting,eight cases of epilepsy,five cases of headache,two cases of growth retardation,one case of mental retardation,one case of diabetes,and one case of peripheral neuropathy.The levels of lactate,lactate dehydrogenase,creatine kinase,and pyruvate in MELAS group were higher than those in control group,and the differences were statistically significant(P<0.05).Brain MRI abnormalities were observed in all patients,among which five patients had lesions located in the cerebral cortex,mostly in the parietal occipital temporal lobe,one patient had lesions located in the basal ganglia,and two patients had lesions in both cortex and basal ganglia.MRS of five cases showed inverted lactate peak with bimodal change.The electroencephalogram of eight cases showed slow wave of background activity,and epileptic discharge was observed in two cases.Seven children with MELAS had mtDNA locus mutation M.3243A>G,and one patient had M.83

关 键 词：儿童线粒体脑肌病伴高乳酸血症和卒中样发作 临床表现 血生化 影像 基因学 

分 类 号：R742[医药卫生—神经病学与精神病学]