抗gluk2抗体阳性自身免疫性脑炎并发多发性骨髓瘤1例

IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY BMC Neurology Pub Date : 2025-01-20 DOI:10.1186/s12883-025-04037-3
Zhengping Cheng, Yang Song, Shuqi Zhao, Xiaowen Sui, Lili Xie, Hongling Zhao, Xin Pan, Li Cui, Xinran Huang, Shubei Ma
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引用次数: 0

摘要

背景:与抗gluk2抗体相关的自身免疫性脑炎是最近发现的一种疾病,典型特征为小脑性共济失调。本病例报告提出了一个独特的临床表现,涉及不自主运动和情绪失调,扩大了已知的表型谱。病例介绍:一名60岁女性,有两年的不自主运动史,主要影响其下肢和面部肌肉,偶尔伴有歇斯底里的喊叫。初步调查显示多发性骨髓瘤(MM)和抗gluk2抗体阳性共存。经mm特异性治疗,包括硼替佐米、环磷酰胺和地塞米松,患者症状缓解,血清抗gluk2抗体滴度明显下降。结论:本病例提示不自主运动和精神症状可能代表抗gluk2抗体相关的自身免疫性脑炎的新表型。这些发现强调了认识到这种罕见疾病的不同临床表现的重要性,并促使进一步研究其潜在机制。
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Anti-GluK2 antibody-positive autoimmune encephalitis concurrent with multiple myeloma: a case report.

Background: Autoimmune encephalitis associated with anti-GluK2 antibodies is a recently identified condition, typically characterized by cerebellar ataxia. This case report presents a unique clinical manifestation involving involuntary movements and emotional dysregulation, expanding the known phenotype spectrum.

Case presentation: A 60-year-old woman presented with a two-year history of involuntary movements predominantly affecting her lower limbs and facial muscles, occasionally accompanied by hysterical shouting. Initial investigations revealed coexisting multiple myeloma (MM) and anti-GluK2 antibody positivity. Following MM-specific therapy, including bortezomib, cyclophosphamide, and dexamethasone, the patient's symptoms resolved, and her serum anti-GluK2 antibody titers decreased significantly.

Conclusions: This case suggests that involuntary movements and psychiatric symptoms may represent novel phenotypes of anti-GluK2 antibody-associated autoimmune encephalitis. The findings underscore the importance of recognizing the diverse clinical presentations of this rare condition and prompt further research into its underlying mechanisms.

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来源期刊
BMC Neurology
BMC Neurology 医学-临床神经学
CiteScore
4.20
自引率
0.00%
发文量
428
审稿时长
3-8 weeks
期刊介绍: BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.
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