以小脑损害为主要表现的成人甲基丙二酸血症合并高同型半胱氨酸血症一例  

An adult case with cerebellar lesion due to methylmalonic academia combined with hyperhomocysteinemia

作　　者：孙云闯[1] 丛玲 李凡[1] 魏路华 孙葳[1] 杨艳玲[2] 王朝霞[1] Sun Yunchuang;Cong Ling;Li Fan;Wei Luhua;Sun Wei;Yang Yanling;Wang Zhaoxia(Department of Neurology,Peking University First Hospital,Beijing 100034,China;Department of Pediatrics,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院神经内科,100034 [2]北京大学第一医院儿科,100034

出　　处：《中华神经科杂志》2020年第3期210-212,共3页Chinese Journal of Neurology

基　　金：国家重点研发计划(2017YFC1001704)。

摘　　要：报告1例成年起病的甲基丙二酸血症合并高同型半胱氨酸血症患者的临床资料。患者为男性,24岁发病,以行走不稳、精神行为异常起病,进行性加重,神经系统体检发现明显的小脑性共济失调及锥体束征,头颅磁共振成像显示双侧小脑半球对称性长T2信号,血液总同型半胱氨酸、尿甲基丙二酸水平显著增高,基因检测发现MMACHC基因复合杂合突变c.482G>A及c.217C>T,确诊为钴胺素C缺乏症。经给予腺苷钴胺、甜菜碱、叶酸、左卡尼汀治疗后患者行走不稳略有所好转,血同型半胱氨酸水平也显著下降。An adult man of methylmalonic acidemia combined with hyperhomocysteinemia is reported.He presented with progressive walking instability with mental and behavioral alterations when aged 24 years.Physical examination showed significant cerebellar ataxia and pyramidal signs.Brain magnetic resonance imaging revealed symmetric lesions of bilateral cerebellum.His plasma total homocysteine and urine methylmalonic acid were significantly elevated.Compound heterozygous mutations,c.482G>A and c.217C>T,were found in his MMACHC gene,confirming the diagnosis of cblC deficiency.Improved clinical manifestations and decreased plasma total homocysteine were observed one month after treatment.

关 键 词：甲基丙二酸血症 高同型半胱氨酸血症 小脑损害 MMACHC基因 

分 类 号：R74[医药卫生—神经病学与精神病学] R589[医药卫生—临床医学]