{"title":"Paraneoplastic cerebellar degeneration combined with Lambert-Eaton myasthenia gravis syndrome in a patient positive for SOX1 antibody.","authors":"Xianzhu Zeng, Qian Li, Qing Chen, Chunyue Guo, Ruixian Wang, Ting Zhang, Ying Xu, Chensijia Zhang, Nan Wang, Jing Zhang","doi":"10.62347/NHTJ8584","DOIUrl":null,"url":null,"abstract":"<p><p>A paraneoplastic syndrome (PNS) is a complex condition that worsens the quality of life of patients. It presents diverse clinical manifestations and can be challenging to diagnose. The role of the SOX1 antibody in PNS has been gaining attention, but clinicians frequently lack an understanding of PNS cases with positive antibody results and complex symptoms. This lack of understanding can lead to misdiagnosis and missed diagnoses. In this report, we present a typical case to highlight the importance of considering PNS when patients present with cerebellar lesions, symptoms resembling Lambert-Eaton myasthenic syndrome (LEMS), signs of peripheral nerve injury, or subclinical evidence. Recognizing these indicators of PNS is crucial for improving early diagnosis and patient prognosis. By sharing this case, our goal is to increase awareness of these unique PNS cases and provide insight for diagnosis and treatment.</p>","PeriodicalId":7731,"journal":{"name":"American journal of translational research","volume":"17 4","pages":"3001-3008"},"PeriodicalIF":1.6000,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12082523/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American journal of translational research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.62347/NHTJ8584","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
引用次数: 0
Abstract
A paraneoplastic syndrome (PNS) is a complex condition that worsens the quality of life of patients. It presents diverse clinical manifestations and can be challenging to diagnose. The role of the SOX1 antibody in PNS has been gaining attention, but clinicians frequently lack an understanding of PNS cases with positive antibody results and complex symptoms. This lack of understanding can lead to misdiagnosis and missed diagnoses. In this report, we present a typical case to highlight the importance of considering PNS when patients present with cerebellar lesions, symptoms resembling Lambert-Eaton myasthenic syndrome (LEMS), signs of peripheral nerve injury, or subclinical evidence. Recognizing these indicators of PNS is crucial for improving early diagnosis and patient prognosis. By sharing this case, our goal is to increase awareness of these unique PNS cases and provide insight for diagnosis and treatment.