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一名早期无症状乳腺癌患者的富含亮氨酸胶质瘤失活蛋白1抗体阳性边缘叶脑炎

Leucine-rich glioma-inactivated protein 1 antibody-positive limbic encephalitis in a patient with an early-stage asymptomatic breast cancer.

作者信息

Niño Uribe Maria Fernanda, Van Cutsem Gilles, Kerschen Philippe

机构信息

Neurology Department, Centre Hospitalier de Luxembourg, Luxembourg ville, Luxembourg

University of Luxembourg, Esch-sur-Alzette, Luxembourg.

出版信息

BMJ Case Rep. 2025 Apr 2;18(4):e261902. doi: 10.1136/bcr-2024-261902.

DOI:10.1136/bcr-2024-261902
PMID:40180343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11966599/
Abstract

Our patient is a woman who developed a subacute amnestic syndrome, followed by cognitive impairment, headache, temporal lobe epilepsy and hyponatraemia. An early-stage asymptomatic breast cancer was identified on positron emission tomography (PET) scan. After treatment with immunotherapy with high-dose corticosteroids, intravenous immunoglobulins, upfront rituximab and excision of the tumour, the patient gradually recovered. Partial retrograde and anterograde amnesia persisted during the initial weeks, followed by slow and steady improvement. Autoimmune encephalitis is a severe neurological disorder associated with antibodies against neuronal cell-surface or intracellular onconeural proteins. Anti-leucine-rich glioma inactivated 1 (LGI1) predominantly affects males in the seventh decade of life, and less than 10% of all cases are associated with cancer. Paraneoplastic cases have been associated with malignant thymoma, neuroendocrine tumours and mesothelioma and usually had Morvan syndrome, in which serum antibodies are more frequently directed against CASPR2 than against LGI1. We report the first well-documented case of anti-LGI1 limbic encephalitis in a woman with newly diagnosed breast cancer.

摘要

我们的患者是一名女性,她先是出现了亚急性遗忘综合征,随后出现认知障碍、头痛、颞叶癫痫和低钠血症。正电子发射断层扫描(PET)发现了早期无症状性乳腺癌。在接受大剂量皮质类固醇免疫治疗、静脉注射免疫球蛋白、早期使用利妥昔单抗以及肿瘤切除术后,患者逐渐康复。最初几周仍存在部分逆行性和顺行性遗忘,随后缓慢而稳定地好转。自身免疫性脑炎是一种严重的神经系统疾病,与针对神经元细胞表面或细胞内肿瘤相关神经蛋白的抗体有关。抗富含亮氨酸胶质瘤失活1(LGI1)抗体主要影响70岁左右的男性,所有病例中不到10%与癌症相关。副肿瘤性病例与恶性胸腺瘤、神经内分泌肿瘤和间皮瘤有关,通常患有莫尔旺综合征,其中血清抗体更常针对接触蛋白相关蛋白2(CASPR2)而非LGI1。我们报告了首例有充分记录的抗LGI1边缘性脑炎病例,患者为一名新诊断的乳腺癌女性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/7f017fb90f05/bcr-18-4-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/2b006fc77552/bcr-18-4-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/222f766933b1/bcr-18-4-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/7f017fb90f05/bcr-18-4-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/2b006fc77552/bcr-18-4-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/222f766933b1/bcr-18-4-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cf4/11966599/7f017fb90f05/bcr-18-4-g003.jpg

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本文引用的文献

1
Autoimmune Encephalitis with Antibodies: Anti-NMDAR, Anti-AMPAR, Anti-GQ1b, Anti-DPPX, Anti-CASPR2, Anti-LGI1, Anti-RI, Anti-Yo, Anti-Hu, Anti-CV2 and Anti-GABAAR, in the Course of Psychoses, Neoplastic Diseases, and Paraneoplastic Syndromes.伴有抗N-甲基-D-天冬氨酸受体(NMDAR)、抗α-氨基-3-羟基-5-甲基-4-异恶唑丙酸受体(AMPAR)、抗GQ1b、抗二肽基肽酶样蛋白-6(DPPX)、抗接触蛋白相关蛋白2(CASPR2)、抗富含亮氨酸胶质瘤失活蛋白1(LGI1)、抗Ri、抗Yo、抗Hu、抗CV2和抗γ-氨基丁酸A型受体(GABAAR)抗体的自身免疫性脑炎,见于精神病、肿瘤性疾病及副肿瘤综合征过程中。
Diagnostics (Basel). 2023 Aug 3;13(15):2589. doi: 10.3390/diagnostics13152589.
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Encephalitis: diagnosis, management and recent advances in the field of encephalitides.脑炎:脑炎的诊断、治疗和研究进展。
Postgrad Med J. 2023 Jul 21;99(1174):815-825. doi: 10.1136/postgradmedj-2022-141812. Epub 2022 Jun 23.
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Autoimmune Encephalitis Misdiagnosis in Adults.自身免疫性脑炎在成人中的误诊。
JAMA Neurol. 2023 Jan 1;80(1):30-39. doi: 10.1001/jamaneurol.2022.4251.
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Autoimmune encephalitis associated with COVID-19: A systematic review.与 COVID-19 相关的自身免疫性脑炎:一项系统性综述。
Mult Scler Relat Disord. 2022 Jun;62:103795. doi: 10.1016/j.msard.2022.103795. Epub 2022 Apr 6.
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The LGI1 protein: molecular structure, physiological functions and disruption-related seizures.LGI1 蛋白:分子结构、生理功能和与紊乱相关的癫痫发作。
Cell Mol Life Sci. 2021 Dec 30;79(1):16. doi: 10.1007/s00018-021-04088-y.
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LGI1 antibody encephalitis: acute treatment comparisons and outcome.LGI1 抗体脑炎:急性期治疗比较和结局。
J Neurol Neurosurg Psychiatry. 2022 Mar;93(3):309-315. doi: 10.1136/jnnp-2021-327302. Epub 2021 Nov 25.
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Post-COVID-19 opsoclonus-myoclonus syndrome and encephalopathy associated with leucine-rich glioma-inactivated 1 (LGI-1) antibodies.新型冠状病毒肺炎后眼阵挛-肌阵挛综合征及与富含亮氨酸胶质瘤失活1(LGI-1)抗体相关的脑病
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Updates in the Diagnosis and Treatment of Paraneoplastic Neurologic Syndromes.副肿瘤性神经系统综合征的诊断和治疗进展。
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