表现为“脑炎”的甲基丙二酸血症合并肉碱增多症病例报告及文献回顾

A Case Report and Literature Review of the Presence of “Encephalitis” in the Treatment of Patients with Acidemia Associated with Carnitine

目的探讨反复表现为"脑炎"的甲基丙二酸血症(MMA)合并肉碱增多症患者的临床特征。方法收集1例反复表现为"脑炎"的MMA合并肉碱增多症患者的临床表现、诊断及治疗过程,并复习相关文献进行分析。结果患者为中年女性,隐匿起病,表现为乏力、嗜睡,伴随认知功能下降。头颅增强MRI显示双侧额颞枕叶脑白质内见散在斑点状稍长T1稍长T2信号影。实验室检查:血常规异常、血浆同型半胱氨酸增高,尿有机酸分析显示尿MMA明显升高,血丙酰肉碱升高。诊断MMA合并肉碱增多症,可能为线粒体代谢遗传病。结论对于青年后起病,以反复"脑炎"为主要临床表现的患者,需要考虑MMA等遗传代谢病,应该完善有机酸、线粒体代谢与相关基因检测。

Aim To investigate the clinical features of a patient with methionine hyperlipidemia and earnitine hyperalgesia, which is manifested as ＂encephalitis＂. Methods The data of clinical manifestation, diagnosis and treatment of a patient with methionine hyperlipidemia and camitine hyperalgesia were collected, which was manifested as ＂encephalitis＂, and the relevant literature was reviewed. Results The patient＇s brain enhancement MRI showed bilateral frontal temporal occipital white matter found in the spotted slightly longer T1 slightly longer T2 signal. Laboratory examination showed abnormal blood routine, increased plasma homocysteine. Urine organic acid analysis showed that urine MMAwas significantly increased, serum propionyl camitine increased. The patient was diagnosed with methylmalonic acid with camitine hyperlipidemia, which belonged to mitochondrial genetic metabolic disease. Conclusion For middle-aged patients with repeated ＂encephalopathy＂ as main performance, it should be considered of diagnosing genetic metabolic diseases, and the organic acid, mitochondrial metabolism and related gene detection should be taken.