多系统萎缩误诊为晚发性遗传性共济失调并文献复习  

A Case of Misdiagnosis of MSA as Late-onset Hereditary Ataxia and the Related Literature Review

作　　者：李文辉[1] 王小平[1] 王丽[1] 

机构地区：[1]孝感市中心医院神经内科二病区,湖北孝感432100

出　　处：《临床误诊误治》2015年第10期29-32,共4页Clinical Misdiagnosis & Mistherapy

摘　　要：目的加强对多系统萎缩(multiple system atrophy,MSA)临床表现、影像学特征及诊断要点的认识,以减少误诊。方法回顾性分析我院收治的1例MSA误诊病例资料,并复习相关文献。结果本例为中老年男性,因头晕、步态不稳1年余入院,曾在某院诊断为晚发性遗传性共济失调,予改善脑组织代谢等治疗无效就诊我院。查体可见小脑性共济失调表现。头颅MRI检查示:橄榄体、脑桥、小脑萎缩,壳核外侧缘裂隙征及脑桥中部十字征改变。进一步追问病史得知二便障碍史,测血压发现直立性低血压,综合分析病情诊断为MSA。结论 MSA临床相对少见,对于有自主神经功能障碍、帕金森综合征和小脑综合征表现或早期表现单一系统症状者容易与各亚型相近疾病混淆,详细询问病史、仔细查体并及时完善神经系统影像学检查,有助于明确诊断。Objective To raise awareness of the clinical manifestations,imaging characteristics and key diagnosis points of multiple system atrophy（ MSA） in order to avoid misdiagnosis. Methods A retrospective analysis of clinical data was conducted on one case of MSA patient in our hospital who had been misdiagnosed and the relevant literature was reviewed.Results An elderly male patient was admitted to our hospital for dizziness and unstable walking for more than 1 year. He had been diagnosed with late-onset hereditary ataxia in a local hospital,and was then admitted to our hospital due to failure of treatment of improving the brain tissue metabolism. Physical examination in our hospital showed cerebellar ataxia,and head MRI showed olivopontocerebellar atrophy,pons,cerebellar atrophy,fracture sign in the outer edge of putamen and cross sign in central pons. The further reference to medical history reported the history of bowel and bladder dysfunction,and blood pressure measurement revealed orthostatic hypotension. After comprehensive analysis of the condition,the patient was diagnosed with MSA. Conclusion MSA is rare in clinical practice. Patients,who have the manifestations of autonomic nerve dysfunction,Parkinsonism and cerebellar syndrome,or the manifestation of symptoms of single system in the early stage,tend to be confused with those with various similar subtypes of the disease. However,the inquiry of detailed history,careful physical examination and neuroimaging examinations will contribute to the definite diagnosis.

关 键 词：多系统萎缩 误诊 脊髓小脑变性 小脑共济失调 

分 类 号：R741[医药卫生—神经病学与精神病学]