Sidharth S, Agarwal Ayush, Garg Divyani, Mahadevan Anita, Shamim Shamim A, Gupta Pranjal, Radhakrishnan Divya M, Pandit Awadh K, Srivastava Achal K
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Department of Neuropathology, NIMHANS, Bengaluru, Karnataka, India.
Ann Indian Acad Neurol. 2024 Sep 1;27(5):558-561. doi: 10.4103/aian.aian_307_24. Epub 2024 Aug 21.
Paraneoplastic neurologic syndromes are cancer-associated, immune-mediated neurologic manifestations that may involve any part of the nervous system. They usually present with characteristic neurologic features and should be considered in high-risk phenotypes such as limbic encephalitis, encephalomyelitis, rapidly progressive cerebellar syndrome, opsoclonus-myoclonus, sensory neuronopathy, enteric neuropathy, and Lambert-Eaton myasthenic syndrome. The diagnosis is made by antibody positivity in the serum or cerebrospinal fluid, in the presence of an appropriate clinical phenotype. Findings on antibody testing by immunoblot should always be verified by immunofluorescence. We report a rare case of sensory neuronopathy with triple paraneoplastic antibody positivity (anti-Hu, anti-collapsing response-mediator protein 5, and anti-amphiphysin) on immunoblot but only anti-Hu positivity on immunofluorescence. The presence of lower facial dyskinesias should raise the possibility of an immune-mediated neurologic syndrome in the appropriate clinical context.
副肿瘤性神经系统综合征是与癌症相关的、免疫介导的神经系统表现,可累及神经系统的任何部位。它们通常表现出特征性的神经学特征,在边缘性脑炎、脑脊髓炎、快速进展性小脑综合征、眼阵挛-肌阵挛、感觉神经元病、肠神经病和兰伯特-伊顿肌无力综合征等高风险表型中应予以考虑。诊断依据血清或脑脊液中抗体呈阳性,且存在合适的临床表型。免疫印迹法检测抗体的结果应始终通过免疫荧光法进行验证。我们报告了一例罕见的感觉神经元病病例,免疫印迹显示三重副肿瘤抗体阳性(抗Hu、抗塌陷反应介质蛋白5和抗 amphiphysin),但免疫荧光仅显示抗Hu阳性。在合适的临床背景下,下半面部运动障碍的存在应增加免疫介导的神经系统综合征的可能性。