Department of Neurology, Akershus University Hospital, Lørenskog, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
J Med Case Rep. 2023 Aug 3;17(1):330. doi: 10.1186/s13256-023-04059-w.
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological condition with paraneoplastic etiology in about 20% of cases, usually presenting before or shortly after the oncological diagnosis is established. PERM associated with anti-glycine receptor antibodies is not previously reported in a patient with bladder cancer.
A 72-years-old Caucasian male was admitted with acute onset of dysarthria, dysphagia and trismus three years after initial surgical treatment for bladder cancer. The condition was initially diagnosed as tetanus and treated accordingly, but the diagnosis was reconsidered because of progression despite adequate treatment. Diagnostic workup on readmission revealed lung and paraaortal metastases from bladder cancer and anti-glycine receptor (anti-GlyR) antibodies both in the cerebrospinal fluid and in serum, which supplemented with the clinical presentation led to the diagnosis of PERM, presumably related to bladder cancer. The patient showed improvement and stabilization after treatment with intravenous immunoglobulin and chemotherapy against metastatic bladder cancer.
To the best of our knowledge, this is the first reported case of anti-GlyR antibody positive PERM related to urothelial carcinoma. The symptoms mimicked tetanus, and responded to chemotherapy and immunotherapy.
进行性脑脊髓炎伴僵硬和肌阵挛（PERM）是一种罕见的神经系统疾病，约 20%的病例具有副肿瘤病因，通常在肿瘤诊断确立之前或之后不久出现。以前没有报道过与抗甘氨酸受体抗体相关的 PERM 发生在膀胱癌患者中。
一名 72 岁白人男性，在膀胱癌初始手术治疗三年后，突发构音障碍、吞咽困难和牙关紧闭，随后入院。最初诊断为破伤风，并进行了相应的治疗，但由于病情进展，尽管治疗得当，还是重新考虑了诊断。再次入院后的诊断性检查显示，膀胱癌发生肺和主动脉旁转移，以及脑脊液和血清中的抗甘氨酸受体（anti-GlyR）抗体，这些检查结果加上临床表现，导致了 PERM 的诊断，可能与膀胱癌有关。患者在接受静脉免疫球蛋白和针对转移性膀胱癌的化疗治疗后，症状得到改善和稳定。
据我们所知，这是首例报道的与尿路上皮癌相关的抗 GlyR 抗体阳性 PERM 病例。该症状类似于破伤风，对化疗和免疫疗法有反应。
