Department of Neurology (JCK, SB), Illinois Neurologic Institute, Peoria, Illinois; Department of Neurology (JCK, SB), Saint Francis Medical Center and University of Illinois College of Medicine; Department of Neurosurgery (JCK, SB), University of Illinois College of Medicine, Peoria, Illinois; Department of Pathology (JCK, SB), Neuropathology Section, University of Illinois College of Medicine, Peoria; Departments of Neurology (SDE, DD, AM) and Laboratory Medicine and Pathology (DD, AM), Mayo Clinic, Rochester, Minnesota.
J Neuroophthalmol. 2021 Jun 1;41(2):261-265. doi: 10.1097/WNO.0000000000001194.
A 45-year-old man with a history of testicular seminoma treated 8 years earlier presented with chronic progressive truncal and limb ataxia, progressive sensorineural hearing loss, and episodic vertigo. Eye movement and neuro-otology examinations showed localizing abnormalities to the bilateral cerebellar flocculus, vermis, and bilateral cerebellar hemispheres. Audiometric testing showed bilateral symmetric sensorineural hearing loss. There was a normal MRI of the brain. Cerebrospinal fluid (CSF) showed modest lymphocytic pleocytosis, and there was an elevated serum choriogonadotrophic hormone. An abdominal CT scan showed a solitary, large retroperitoneal lymph node, and histopathologic examination of the node biopsy showed granulomatous inflammation without microorganisms; eventually, immunohistochemical markers confirmed the diagnosis of metastatic seminoma. Although normal neuroimaging and inflammatory CSF reaction suggested a paraneoplastic etiology, the initial paraneoplastic antibody testing was negative. Subsequent investigation identified a positive kelch-11 protein antibody, thus confirming the paraneoplastic connection between the metastatic seminoma and the subacute neurologic-cochleovestibular syndrome.
一位 45 岁的男性，8 年前患有睾丸精原细胞瘤，目前出现慢性进行性躯干和肢体共济失调、进行性感觉神经性听力损失和阵发性眩晕。眼动和神经耳科学检查显示双侧小脑绒球、蚓部和双侧小脑半球存在定位异常。听力学检查显示双侧对称的感觉神经性听力损失。脑部 MRI 正常。脑脊液（CSF）显示中等程度的淋巴细胞增多，血清绒毛膜促性腺激素升高。腹部 CT 扫描显示单个大的腹膜后淋巴结，淋巴结活检的组织病理学检查显示肉芽肿性炎症而无微生物；最终，免疫组化标志物证实了转移性精原细胞瘤的诊断。尽管正常的神经影像学和炎症性 CSF 反应提示副肿瘤性病因，但最初的副肿瘤抗体检测为阴性。随后的检查发现 kelch-11 蛋白抗体阳性，从而证实了转移性精原细胞瘤与亚急性神经-耳蜗-前庭综合征之间的副肿瘤联系。
