以痉挛性截瘫为突出表现的甲基丙二酸血症19例分析  

Analysis of 19 cases of methylmalonic acidemia with spastic paraplegia

作　　者：侯月[1] 褚敏 高乐虹[1] 王黎[1] 林一聪[1] 叶静[1] 任连坤 刘爱华[1] Hou Yue;Chu Min;Gao Lehong;Wang Li;Lin Yicong;Ye Jing;Ren Liankun;Liu Aihua(Department of Neurology, Xuanwu Hospital, Capital Medical University,Beijing 100053, China)

机构地区：[1]首都医科大学宣武医院神经内科,100053

出　　处：《疑难病杂志》2020年第12期1213-1216,共4页Chinese Journal of Difficult and Complicated Cases

摘　　要：以痉挛性截瘫为突出表现的甲基丙二酸血症(MMA)就诊于神经内科者多属于晚发型,主要表现为慢性进展性痉挛性截瘫,认知功能下降,癫痫发作,可合并精神症状,实验室检查可有高同型半胱氨酸血症、贫血、酮尿及血尿,头颅MR典型改变为脑萎缩及对称性基底节改变,脑电图主要表现为背景慢节律及局灶性癫痫样放电,对维生素B12治疗有效,临床上误诊率高,及时诊断和早期治疗可改善预后。文章对以痉挛性截瘫为突出表现的MMA19例患者的临床特征及治疗方法进行分析,为临床医师提供经验。Methylmalonic acidemia(MMA)with spastic paraplegia as the prominent manifestation is mostly late-onset in neurology.The main manifestations are chronic progressive spastic paraplegia,cognitive decline,seizures,and mental symptoms.,Laboratory examinations may have hyperhomocysteinemia,anemia,ketonuria and hematuria,typical head MR changes are brain atrophy and symmetrical basal ganglia changes,EEG mainly manifests as background slow rhythm and focal epilepsy Such discharge is effective for vitamin B12 treatment,and the clinical misdiagnosis rate is high.Timely diagnosis and early treatment can improve the prognosis.This article analyzes the clinical characteristics and treatment methods of 19 patients with MMA with spastic paraplegia as the prominent manifestation,and provides experience for clinicians.

关 键 词：甲基丙二酸血症 痉挛性截瘫 癫痫 诊断 治疗 

分 类 号：R74[医药卫生—神经病学与精神病学]