A Case of Delayed Methylmalonic Aciduria Complicated with Hyperhomocysteinemia and Cerebellar Pia Mater Enhancement

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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 Methylmalonic Aciduria Homocysteinuria Magnetic Resonance Imaging Cerebellum Pia Mater

摘要: Methylmalonic aciduria 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 a...更多; Methylmalonic aciduria 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.收起

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