以副肿瘤性小脑变性为首发表现的扁桃体鳞状细胞癌相关癌症相关性视网膜病变：一例病例报告

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中文摘要

背景与临床意义： 癌症相关性视网膜病变（CAR）是一种罕见的副肿瘤性自身免疫性视网膜病变，由针对肿瘤抗原并与视网膜蛋白发生交叉反应的抗体引起。副肿瘤性小脑变性（PCD）是由肿瘤神经抗原引发的自身免疫性小脑组织损伤所致。我们报告一例罕见的CAR与血清阴性PCD同时发生于低分化扁桃体鳞状细胞癌患者的病例，并描述CAR相关黄斑萎缩的长期后遗症；病例介绍：一名66岁男性表现为进行性无痛性双眼周边及夜间视力丧失、躯干性共济失调、辨距不良和构音障碍。光学相干断层扫描显示弥漫性外层视网膜丢失，多焦视网膜电图显示双眼反应显著降低。评估发现右侧扁桃体低分化鳞状细胞癌。CAR抗体检测显示恢复蛋白、烯醇化酶和碳酸酐酶II抗体阳性。脑部MRI显示小脑萎缩。在排除其他自身免疫性病因后，他被诊断为血清阴性PCD。治疗包括机器人扁桃体切除术及颈淋巴结清扫术、静脉注射免疫球蛋白、大剂量皮质类固醇和利妥昔单抗维持治疗。6个月时，视力、色觉和视网膜电图改善。七年之后，尽管视网膜萎缩和小脑功能障碍进展，他仍能独立进行日常生活活动；结论：本病例强调了与扁桃体鳞状细胞癌相关的CAR和血清阴性PCD的罕见共存。尽管长期视网膜变性进展，多模式肿瘤和免疫抑制治疗产生了有意义的神经和视觉改善。

英文摘要

Background and Clinical Significance: Cancer-associated retinopathy (CAR) is a rare paraneoplastic autoimmune retinopathy caused by antibodies targeting tumor antigens with cross-reactivity to retinal proteins. Paraneoplastic cerebellar degeneration (PCD) results from autoimmune injury to cerebellar tissue triggered by onconeural antigens. We report a rare case of CAR occurring concurrently with seronegative PCD in a patient with poorly differentiated tonsillar squamous cell carcinoma, and we describe the long-term sequelae of CAR-related macular atrophy; Case Presentation: A 66-year-old male presented with progressive painless bilateral peripheral and night vision loss, truncal ataxia, dysmetria, and dysarthria. Optical coherence tomography demonstrated diffuse outer retinal loss, and multifocal electroretinography showed markedly reduced responses bilaterally. Evaluation revealed poorly differentiated squamous cell carcinoma of the right tonsil. CAR antibody testing was positive for recoverin, enolase, and carbonic anhydrase II antibodies. Brain MRI demonstrated cerebellar atrophy. After exclusion of other autoimmune etiologies, he was diagnosed with seronegative PCD. Treatment included robotic tonsillectomy with neck dissection, intravenous immunoglobulin, high-dose corticosteroids, and maintenance rituximab. At 6 months, visual acuity, color vision, and electro-retinography improved. Seven years later, he remains independent in activities of daily living despite the progression of retinal atrophy and cerebellar dysfunction; Conclusions: This case highlights the rare coexistence of CAR and seronegative PCD associated with tonsillar squamous cell carcinoma. Multimodal oncologic and immunosuppressive therapy produced meaningful neurologic and visual improvement, despite progressive long-term retinal degeneration.