因预防接种诱发急性脑病的甲基丙二酸尿症cblA型一例  

Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA

作　　者：刘玉鹏[1] 吴桐菲[2] 王海军[3] 丁圆[1] 宋金青[1] 李溪远[1] 张尧[1] 王峤[1] 杨艳玲[1] 

机构地区：[1]北京大学第一医院儿科,100034 [2]首都医科大学右安门临床检验中心 [3]郑州市儿童医院

出　　处：《中华儿科杂志》2015年第1期62-65,共4页Chinese Journal of Pediatrics

基　　金：基金项目：“十二五”国家科技支撑计划项目（2012BA109804）

摘　　要：目的报道1例因预防接种诱发急性脑病的中国甲基丙二酸尿症的cblA型病例。方法就病例临床、血液酯酰肉碱谱、尿有机酸、甲基丙二酸尿症相关基因等特点进行分析。结果患儿男，1岁3个月时因“间断呕吐、酸中毒、发育落后8个月”就诊。患儿生后7个月内发育正常，7个月时接种乙肝疫苗后1h出现呕吐、昏迷。临床诊断“中度脱水，电解质紊乱，代谢性酸中毒”，经补液等治疗后好转。此后，患儿发育落后，间断呕吐。1岁3个月时接种百白破疫苗，接种3h后再次出现呕吐，嗜睡，静脉补液后未见好转，7d后喘憋、呼吸困难、昏迷。患儿血液丙酰肉碱16．3Ixmol／L（参考值1．0—5．0μmol／L）、丙酰肉碱／游离肉碱0．27（参考值0．03～0．25）增高，尿甲基丙二酸（388．21mmol／mol肌酐，参考值0．2-3．6mmol／mol肌酐）及其代谢产物浓度显著增高，血浆总同型半胱氨酸浓度正常，符合单纯型甲基丙二酸血症，MMAA基因存在c．650T〉A（P．L217X）和c．742C〉T（P．Q248x）复合杂合突变，确诊为cblA型。经羟钴铵肌内注射、左卡尼汀、低蛋白饮食及特殊配方奶粉治疗后，患儿病情逐渐好转。患儿现2岁7个月，智力运动正常。结论报道我国首例因预防接种诱发急性脑病的cblA型甲基丙二酸尿症。对疑似遗传代谢病患儿，预防接种前的代谢筛查是减少意外的关键。Objective We report the first case of acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA in China. Method The clinical presentation, blood acylcarnitines analysis, urine organic acids analysis and gene studies of the patient were summarized. Result The proband, a boy, was admitted at the age of 15 months because of recurrent vomiting, acidosis and development delay for 8 months. The previously healthy boy presented vomiting and coma just one hour after hepatitis B vaccination at the age of seven months. Moderate dehydration, electrolyte disturbance and metabolic acidosis had been found. Although his acute metabolic crisis had been corrected soon after intravenous transfusion, psychomotor retardation and recurrent vomiting had been observed. When he was 15 months old, vomiting and lethargy occurred again 3 hours after DTaP vaccination. He was weakened as the illness became worse and got coma with dyspnea 7 days later. He was hospitalized with the suspected diagnosis of viral encephalitis. Blood acylcarnitines analysis, urine organic acids analysis and gene study had been performed for the etiologic investigation. His blood propionylcarnitine （ 16. 3 μmol/L vs. normal range 1.0 - 5.0 μmol/L） and propionylcarnitine/free carnitine ratio （ 0. 27 vs. normal range 0. 03 to 0. 25 ） increased. Markedly elevated urinary methylmalonic acid （388.21 mmol/mol creatinine vs. normal range 0. 2 to 3.6 mmol/mol creatinine） and normal plasma total homocysteine supported the diagnosis of isolated methylmalonic aciduria. Two mutations, c. 650 T 〉 A （ p. L217X ） and c. 742 C 〉 T （ p. Q248X ）, were identified in his MMAA gene, confirmed the diagnosis of cblA. Each parent carried one of the two mutations. Progressive clinical and biochemical improvement has been observed after hydroxyleobalamin

关 键 词：甲基丙二酸尿症 cblA型 MMAA 预防接种 代谢危象 

分 类 号：R742[医药卫生—神经病学与精神病学]