伴有精神病性症状的晚发型钴胺素C缺陷病1例  

A case of late-onset cobalamin C deficiency with psychotic symptoms

作　　者：马家树 苏现彪 孙丰霞[2] 马坦坦 王忠宝 李静 白录东[2] 李然然 Ma Jiashu;Su Xianbiao;Sun Fengxia;Ma Tantan;Wang Zhongbao;Li Jing;Bai Ludong;Li Ranran(School of Mental Health,Jining Medical University,Jining 272013,China;Shandong Mental Health Center,Shandong University,Jinan 250014,China)

机构地区：[1]济宁医学院精神卫生学院,济宁272013 [2]山东省精神卫生中心(山东大学附属精神卫生中心),济南250014

出　　处：《中华精神科杂志》2024年第2期100-104,共5页Chinese Journal of Psychiatry

基　　金：国家自然科学基金(82101580);山东省中医药科技发展计划项目(2019-0528)。

摘　　要：晚发型钴胺素C(cobalamin C)缺陷病是一种遗传性有机酸代谢病,临床表现具有异质性,极易被误诊。本文报道1例青年女性患者,以癫痫样发作为首次发病症状,9年后出现多疑等精神病性症状,16年后病情逐渐进展至缄默不语,无法站立,进食困难,大小便失禁,期间行脑电图、脑CT检查均未见明显异常,但MRI示脑萎缩,生化检查血同型半胱氨酸、尿甲基丙二酸-2异常升高。最终通过基因检测发现患者MMACHC基因存在两处致病突变,被确诊为晚发型钴胺素C缺陷病。患者在诊疗期间经抗癫痫药和抗精神病药等治疗但病情控制不佳,确诊后接受纠正代谢紊乱的治疗,取得显著的临床改善。本文中回顾了患者的临床资料,并结合文献进行讨论分析,旨在增强精神科医生对该罕见病的认识,以便早期发现、早期确诊和治疗。Late-onset cobalamin C(cblC)deficiency is an inherited organic acid metabolic disorder characterized by clinical heterogeneity,which often presents challenges in accurate diagnosis.This article presents a case study of a young female patient who initially experienced epileptic-like seizures.Over a span of 9 years,she subsequently developed psychotic symptoms.Her condition has been steadily deteriorating over a period of 16 years,leading to mutism,loss of ambulation,dysphagia,and urinary and fecal incontinence.Although electroencephalography and cranial computed tomography did not show significant findings during the course of the illness,cranial magnetic resonance imaging showed evidence of cerebral atrophy.Biochemical analysis revealed elevated levels of blood homocysteine and urinary methylmalonic acid-2.Genetic testing identified two pathogenic mutations in the MMACHC gene,confirming the diagnosis of late-onset cobalamin C(cblC)deficiency.Despite receiving interventions such as antiepileptic and antipsychotic medications during the diagnostic and therapeutic phases,the patient′s clinical progress remained limited.Following the definitive diagnosis,targeted metabolic therapy was initiated,leading to significant clinical improvement.This article provides a comprehensive review of the patient′s clinical data,along with a synthesis of relevant literature,in order to enhance the awareness of psychiatric practitioners regarding this rare disorder.The primary objective is to promote early identification,prompt diagnosis,and timely intervention.

关 键 词：高同种半胱氨酸血症 精神病性症状 甲基丙二酸血症 

分 类 号：R596[医药卫生—内科学]