迟发型甲基丙二酸尿症合并同型半胱氨酸血症(cblC型)伴软脑膜强化一例  

A Case of Delayed Methylmalonic Aciduria Complicated with Hyperhomocysteinemia (cblC Type) and Cerebellar Pia Mater Enhancement

作　　者：张立歌 李晓东[2] 

机构地区：[1]山东第一医科大学,山东 济南 [2]临沂市人民医院,山东 临沂

出　　处：《临床医学进展》2022年第9期8844-8849,共6页Advances in Clinical Medicine

摘　　要：甲基丙二酸尿症(MMA)是一种严重的多系统代谢疾病,根据不同致病机制临床分为单纯型甲基丙二酸尿症和合并型MMA两种类型,合并型是MMA合并同型半胱氨酸血症。由于本病极为少见且缺乏特征性症状和影像学特征,临床医生和放射科医生难以准确诊断这种疾病。在这里,我们描述了一例伴有小脑病变的迟发型合并型MMA,且在影像学上表现为极为少见的小脑软脑膜强化。Methylmalonic aciduria (MMA) is a serious multisystem metabolic disease. According to different pathogenic mechanisms, it can be divided into two types: simple methylmalonic aciduria and com-bined MMA. The combined type is MMA combined with homocysteinemia. Because of its rarity and lack of characteristic symptoms and imaging features, clinicians and radiologists have difficulty in accurately diagnosing this disease. Here, we describe a case of late-onset concomitant MMA with cerebellar lesions and an extremely rare cerebellar leptomeningeal enhancement on imaging.

关 键 词：甲基丙二酸尿症 同型半胱胺酸尿症 磁共振成像 小脑 软脑膜 

分 类 号：R725.8[医药卫生—儿科]