| 叶锦棠,谢晟,齐朝月,杨艳玲,肖江喜.婴幼儿甲基丙二酸尿症的MR表现[J].中国医学影像技术,2008,24(8):1192~1194 |
| 婴幼儿甲基丙二酸尿症的MR表现 |
| MR appearance in pediatric patients with methylmalonic aciduria |
| 投稿时间：2008-04-30 修订日期：2008-07-30 |
| DOI： |
| 中文关键词: 甲基丙二酸尿症 同型半胱氨酸血症 磁共振成像 |
| 英文关键词:Methylmalonic aciduria Homocystinuria Magnetic resonance imaging |
| 基金项目: |
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| 中文摘要: |
| 目的 研究甲基丙二酸尿症婴幼儿患者的头颅MR表现。方法 对17例被确诊为甲基丙二酸尿症的婴幼儿患者(其中9例合并同型半胱氨酸血症)进行头颅常规MRI检查,分析其影像学特点。结果 17例患儿中,14例有明显脑萎缩,7例表现出小脑萎缩,7例患儿有大脑白质脱髓鞘,7例白质髓鞘化程度落后,4例患儿苍白球可见对称性长T2信号,2例患儿合并双侧硬膜下积液。9例合并同型半胱氨酸血症,表现与单纯甲基丙二酸尿症类似。 结论 婴幼儿甲基丙二酸尿症的影像学表现主要与代谢异常导致的白质损害有关,了解该病的临床和影像学表现有助于提供诊断的线索。 |
| 英文摘要: |
| Objective To study the MR appearance of methylmalonic aciduria (MMA) in infant patients. Methods MR routine scans were performed in 17 infant patients diagnosed with MMA, and the radiologic findings were analyzed. Of them, nine patients were satisfied the criteria for the biochemical diagnosis of combined methylmalonic aciduria and homocystinuria (MMA-HC). Results In 17 patients, cerebral atrophy was found in 14 cases, and cerebellar atrophy in 7 cases. White matter dysmyelination was detected in 7 cases. Seven patients showed white matter delayed demyelination. Abnormal high signal of globi pallidi on T2W images appeared in 4 cases. Bilateral subdural collection of fluid was found in 2 cases. 9 cases with combines homocystinuria exhibited similar neurological findings. Conclusion The neuroradiological findings of MMA are characterized by white matter abnormalities resulted from metabolic errors. Awareness of the clinical and neuroimaging features may be helpful in the diagnosis of MMA. |
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