摘要
目的报告3-羟基丁酸尿症伴小脑性共济失调的病例。方法收集以共济失调为首发症状的3-羟基丁酸尿症患者的临床资料,结合文献复习进行分析。结果 3-羟基丁酸尿症患者经临床体检发现有小脑共济失调的体征和尿中3-羟基丁酸、乙酰乙酸、2-酮-3-甲基戊酸、2-酮-异己酸显著升高。结论发现1例3-羟基丁酸尿症伴小脑性共济失调病例。
Aim To report a case of 3-hydroxybutyric aciduria with cerebellar ataxia.Methods A case of 3-hydroxybutyric aciduria with cerebellar ataxia as initial manifestations was collectedand and reviewed.Results The case was a adult femalepatient,who was examined and found signs of cerebellar ataxia and high levels of 3-hydroxybutyric acid,acetylacetate,2-keto-3-methypentanoate,2-keto-isocaproate in acid.Conclusion The patient was diagnosed 3-hydroxybutyric aciduria with cerebellar ataxia.
出处
《中国临床神经科学》
2015年第1期33-37,共5页
Chinese Journal of Clinical Neurosciences
