{"title":"Misdiagnosis of spinocerebellar ataxia type 3 as persistent postural-perceptual dizziness: A case report.","authors":"Yisi Zhang, Xiaoguang Chen, Songbin Pan","doi":"10.1097/MD.0000000000041850","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant inherited spinocerebellar disorder. The disease can easily be misdiagnosed because the symptoms of SCA3 are diverse and not obvious in the early stages.</p><p><strong>Patient concerns: </strong>A 55-year-old woman had experienced dizziness and an unstable gait since 2017. She was misdiagnosed with persistent postural-perceptual dizziness at another hospital because of normal brain magnetic resonance imaging and emotional abnormalities. In our hospital, there were no abnormalities in routine laboratory tests and brain magnetic resonance imaging, but various examinations showed peripheral and central vestibular dysfunction. She had a typical family history of dizziness and an unstable gait.</p><p><strong>Diagnoses: </strong>The patient was diagnosed with SCA3 by genetic testing.</p><p><strong>Interventions: </strong>The patient underwent a regimen of betahistine therapy combined with vestibular rehabilitation training.</p><p><strong>Outcomes: </strong>The patient exhibited clinical improvement and was discharged after 2 weeks.</p><p><strong>Lessons: </strong>Detailed neuro-otological and neuro-ophthalmological evaluations are helpful for the diagnosis of patients with suspected cerebellar ataxia.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 14","pages":"e41850"},"PeriodicalIF":1.3000,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000041850","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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Abstract
Rationale: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant inherited spinocerebellar disorder. The disease can easily be misdiagnosed because the symptoms of SCA3 are diverse and not obvious in the early stages.
Patient concerns: A 55-year-old woman had experienced dizziness and an unstable gait since 2017. She was misdiagnosed with persistent postural-perceptual dizziness at another hospital because of normal brain magnetic resonance imaging and emotional abnormalities. In our hospital, there were no abnormalities in routine laboratory tests and brain magnetic resonance imaging, but various examinations showed peripheral and central vestibular dysfunction. She had a typical family history of dizziness and an unstable gait.
Diagnoses: The patient was diagnosed with SCA3 by genetic testing.
Interventions: The patient underwent a regimen of betahistine therapy combined with vestibular rehabilitation training.
Outcomes: The patient exhibited clinical improvement and was discharged after 2 weeks.
Lessons: Detailed neuro-otological and neuro-ophthalmological evaluations are helpful for the diagnosis of patients with suspected cerebellar ataxia.
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