以脑卒中样发作为主要表现的儿童遗传代谢病

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。

Stroke-like episodes caused by inborn errors of metabolism in childhood

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...