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以发作性共济失调为表现的抗接触蛋白相关蛋白2抗体综合征

Anti-CASPR2 Antibody-Associated Syndrome Presenting With Episodic Ataxia.

作者信息

Lopes Sofia, Francisco Leonor, Moreira Stefanie, Varanda Sara, Araújo José Manuel

机构信息

Neurology Department, Unidade Local de Saúde de Braga, Braga, PRT.

Neurology Department, Unidade Local de Saúde Alto Minho, Viana do Castelo, PRT.

出版信息

Cureus. 2024 May 7;16(5):e59821. doi: 10.7759/cureus.59821. eCollection 2024 May.

Abstract

The anti-CASPR2 antibody-associated syndrome is a rare immune-mediated disorder. Most case reports describe neurologic symptoms that include encephalic signs, peripheral nerve hyperexcitability, dysautonomia, or neuropathic pain. We report the case of a 70-year-old man, admitted to the emergency department with complaints of slurred speech and imbalance. Neurological examination was relevant for dysarthria, hyperreflexia, and pancerebellar syndrome. Cranial CT and basic laboratory tests were normal and he spontaneously recovered after 14 hours. Over the next four months, the patient experienced three similar episodes in relation to stressful events (emotional and organic disturbances like prolonged fasting and vaccination). A contrast-enhanced MRI was performed, along with extensive laboratory testing, analysis of cerebrospinal fluid (CSF), paraneoplastic investigation, and next-generation sequencing panel for episodic ataxias. The results revealed oligoclonal bands in the CSF and positive anti-CASPR2 antibodies both in serum and CSF. Three-day-IV- methylprednisolone pulse followed by plasmapheresis and monthly intravenous immunoglobulins was performed with good response. In conclusion, the neurological manifestations that led to the diagnosis of anti-CASPR2 antibody-associated syndrome were intermittent self-limiting episodes of ataxia, often triggered by concurrent stress-inducing factors. This case supports the aim of other authors to add paroxysmal cerebellar ataxia to the spectrum of the anti-CASPR2 antibody syndrome.

摘要

抗接触蛋白相关蛋白2(CASPR2)抗体相关综合征是一种罕见的免疫介导性疾病。大多数病例报告描述的神经系统症状包括脑部体征、周围神经兴奋性增高、自主神经功能障碍或神经性疼痛。我们报告一例70岁男性病例,因言语不清和平衡失调主诉入住急诊科。神经系统检查发现构音障碍、反射亢进和全小脑综合征。头颅CT和基础实验室检查均正常,患者在14小时后自行恢复。在接下来的四个月里,患者在经历应激事件(如情绪和器质性干扰,如长期禁食和接种疫苗)后出现了三次类似发作。进行了增强磁共振成像(MRI)、广泛的实验室检查、脑脊液(CSF)分析、副肿瘤筛查以及发作性共济失调的二代测序检测。结果显示脑脊液中有寡克隆带,血清和脑脊液中抗CASPR2抗体均为阳性。给予三天静脉注射甲泼尼龙冲击治疗,随后进行血浆置换和每月静脉注射免疫球蛋白,治疗反应良好。总之,导致抗CASPR2抗体相关综合征诊断的神经系统表现为间歇性自限性共济失调发作,常由并发的应激诱导因素触发。该病例支持其他作者将阵发性小脑性共济失调纳入抗CASPR2抗体综合征范畴的观点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bdf3/11156247/e661d958122a/cureus-0016-00000059821-i01.jpg

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