以脑卒中样发作为主要表现的儿童遗传代谢病

摘要

Objective To make a better understanding of the stroke-like episodes caused by inborn errors of metabolism in childhood. Methods Using a retrospective method, clinical and biochemical characteristics were reviewed and analyzed in five cases of children who suffered from stroke like episodes and were diagnosed with inherited metabolic disease. Results Five patients consisted of 4 males and 1 female. Their onset ages were 10 -~ 13 years old. Two cases had homocysteinemia; three cases were diagnosed or highly suspected with mitochondrial encephaiopathy with lactic acidosis and stroke-like spells (MELAS). Two homocysteinemia patients had acute onsets, manifested as movement disorders or unconsciousness, with normal growth and mental development. Two patients with ME LAS or highly suspected MELAS, had acute onsets, with prolonged course, manifested as movement disorders, seizures, vision loss, personality change etc. Growth retardation and mental regression were common in the patients with MELAS. Serum homocysteine concentration was higher in the patients with homocysteinemia than in normal controls, MELAS patients had lacLlc acid em] a and m.] tochondnai gene MELAS A3243G mutation; riomocysteinemia patients showed mult] pie lacunar in-farction ana bilateral basal ganglia infarction in MRL MELAS patients were special with posterior dominated grey matter lesions in MM. Conclusions Lots of diseases can cause childhood stroke-like episodes, inborn metabolic errors are one of them. When a sudden stroke happened, homocysteinemia should be one of the considerations; when such thing happened in a growth retarded child with gray iriatter lesions in posterior head region, the possibility of MELAS should be pay attention to.%目的 提高对遗传代谢性疾病所致儿童卒中样发作的认识.方法采用回顾性方法,对5例确诊为儿童遗传代谢病引发率中样发作患儿的临床表现、生化特点以及诊疗情况进行分析.结果 5例患儿中4男、1女,就诊年龄10～13岁.其中2例高同型半胱氨酸血症患儿起病急,表现为运动障碍和(或)意识障碍,生长发育、智力正常;2例线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)及1例疑似MELAS患儿起病急,病程迁延,以运动障碍、惊厥、视力下降、性格改变为主要表现,体格发育落后于正常同龄儿,病程中出现智力倒退.MELAS患儿血乳酸升高,线粒体基因MELAS A3243G位点突变;高同型半胱氨酸血症患儿血同型半胱氨酸浓度升高.影像学检查,MELAS 患儿以后头部灰质损害为主,高同型半胱氨酸血症患儿为多发性腔隙性脑梗塞、双侧基底节区脑梗塞.结论 儿童卒中病因繁多,应注意遗传代谢病引发卒中样发作的可能性;对既往体健,突发卒中者应注意高同型半胱氨酸血症的可能;对体格发育落后,头颅MRI以后头部灰质病变为主的卒中样发作,应注意MELAS的可能.