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一名SOX1抗体阳性患者出现副肿瘤性小脑变性合并兰伯特-伊顿肌无力综合征。

Paraneoplastic cerebellar degeneration combined with Lambert-Eaton myasthenia gravis syndrome in a patient positive for SOX1 antibody.

作者信息

Zeng Xianzhu, Li Qian, Chen Qing, Guo Chunyue, Wang Ruixian, Zhang Ting, Xu Ying, Zhang Chensijia, Wang Nan, Zhang Jing

机构信息

The Third Central Clinical College of Tianjin Medical University Tianjin 300170, China.

Neurology Department, The Third Central Hospital of Tianjin 83 Jintang Road, Hedong District, Tianjin 300170, China.

出版信息

Am J Transl Res. 2025 Apr 15;17(4):3001-3008. doi: 10.62347/NHTJ8584. eCollection 2025.

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.

摘要

副肿瘤综合征(PNS)是一种使患者生活质量恶化的复杂病症。它呈现出多样的临床表现,诊断可能具有挑战性。SOX1抗体在PNS中的作用已受到关注,但临床医生常常缺乏对抗体结果呈阳性且症状复杂的PNS病例的了解。这种认识不足可能导致误诊和漏诊。在本报告中,我们呈现一个典型病例,以强调当患者出现小脑病变、类似兰伯特 - 伊顿肌无力综合征(LEMS)的症状、周围神经损伤体征或亚临床证据时,考虑PNS的重要性。认识到这些PNS指标对于改善早期诊断和患者预后至关重要。通过分享此病例,我们的目标是提高对这些独特PNS病例的认识,并为诊断和治疗提供见解。

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