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

LI Wen-hui; WANG Xiao-ping; WANG Li

doi:10.3969/j.issn.1002-3429.2015.10.008

Abstract：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 pres-sure 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 dysfunc-tion, 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 ex-amination and neuroimaging examinations will contribute to the definite diagnosis.