Clinical Pathology Unit, Pescara General Hospital, Via Fonte Romana, 8, 65124 Pescara PE, Pescara, Italy.
Intensive Care Unit, Pescara General Hospital, Pescara, Italy.
BMC Neurol. 2022 Nov 2;22(1):404. doi: 10.1186/s12883-022-02923-8.
The anti-SOX-1 antibodies have been mainly associated with Lambert-Eaton Myasthenic Syndrome (LETMS) and Small-Cell Lung Cancer (SCLC). In this report, we describe the interesting case of a patient with serum anti-SOX-1 antibodies and Crohn's Disease (CD) with ensuing neurological symptoms.
A Caucasian 67-year-old female was admitted to the Emergency Department with seizures, vertigo, emesis, nausea, postural instability and recurrent falls, over a period of 10 days. She had been affected by Crohn's Disease since 1991. A CT scan failed to detect any ischemic or haemorrhagic lesion. A brain MRI revealed signs of leukoencephalopathy. Western blot analysis of her serum revealed a high titre of the onconeural antibody anti-SOX1, consistent with a neurological, cerebellar type, paraneoplastic syndrome. In spite of multiple efforts to unmask a possible underlying malignancy, no neoplastic lesion cropped up during hospitalization. Her clinical conditions progressively deteriorated, up to respiratory failure; a few days later she died, due to ensuing septic shock and Multiple Organ Failure.
Our experience may usher and reveal a new role of anti-neural antibodies, so far reckoned an early indicator of associated malignancy, suggesting that neurological syndromes associated with such antibodies may complicate also chronic Gastrointestinal (GI) diseases. As of now, testing for anti-neuronal antibodies appeared unnecessary within the diagnostic assessment of gastroenterological disorders, which may lead to overlooking incident neurologic autoimmune diseases. Further exploration of such research hypothesis in clinical grounds appears intriguing.
抗 SOX-1 抗体主要与 Lambert-Eaton 肌无力综合征 (LETMs) 和小细胞肺癌 (SCLC) 相关。在本报告中,我们描述了一位血清抗 SOX-1 抗体阳性合并克罗恩病 (CD) 并出现神经症状的患者的有趣病例。
一位 67 岁白人女性,因癫痫发作、眩晕、呕吐、恶心、姿势不稳和反复跌倒入住急诊科,病程持续 10 天。她自 1991 年以来患有克罗恩病。CT 扫描未发现缺血或出血性病变。脑部 MRI 显示白质脑病的征象。她的血清 Western blot 分析显示高滴度的神经原抗体抗 SOX1,符合神经、小脑型副肿瘤综合征。尽管多次努力寻找可能的潜在恶性肿瘤,但住院期间未发现肿瘤病变。她的临床状况逐渐恶化,直至呼吸衰竭;几天后,她因继发感染性休克和多器官衰竭而死亡。
我们的经验可能预示着抗神经抗体的新作用,这些抗体迄今为止被认为是相关恶性肿瘤的早期指标,提示与这些抗体相关的神经综合征也可能使慢性胃肠道 (GI) 疾病复杂化。到目前为止,在胃肠道疾病的诊断评估中,似乎没有必要进行抗神经元抗体检测,这可能导致忽视偶发的神经自身免疫性疾病。在临床基础上进一步探索这种研究假设似乎很有趣。