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目的总结以精神障碍发病的甲基丙二酸尿症的临床特点。方法回顾性分析2例尿筛查诊断为甲基丙二酸尿症患者的神经系统表现及治疗经过。结果 2例均无家族史,均以精神障碍为首发症状;2例患者血清同型半胱氨酸均增高,MRI示双侧轻度脑萎缩,脑电图示1例有弥漫性慢波,但均无棘波或尖波,1例正常;尿筛查示尿甲基丙二酸排泄量增多;经甲钴胺、叶酸及左旋肉碱短期治疗后其症状缓解。结论以精神障碍为首发症状者多伴有高同型半胱氨酸血症,对甲钴胺治疗反应良好。
Objective To summarize the clinical features of methylmalonic aciduria with mental disorders. Methods Retrospective analysis of 2 cases of urine screening diagnosis of methylmalonic acid in patients with neurological manifestations and treatment. Results No family history was found in either of the two cases. All of them had mental disorder as the first symptom. Serum homocysteine increased in both of the two cases. MRI showed bilateral mild brain atrophy. EEG showed diffuse slow wave in 1 case No spikes or sharp waves, 1 case of normal urine screening showed urinary methylmalonic acid excretion increased; mecobalamin, folic acid and L-carnitine after treatment of its symptoms were relieved. Conclusion Most patients with mental disorders are associated with hyperhomocysteinemia and respond well to mecobalamin.