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探索成人特发性眼阵挛-肌阵挛-共济失调综合征的症状及见解

Exploring the Symptoms of and Insights Into Idiopathic Opsoclonus-Myoclonus-Ataxia Syndrome in Adults.

作者信息

Santos Ana B, Hong Anthony, Hong Isaac, Villegas José D

机构信息

College of Medicine, University of Costa Rica, San José, CRI.

Neurology, Hospital San Juan de Dios, San José, CRI.

出版信息

Cureus. 2024 Oct 15;16(10):e71568. doi: 10.7759/cureus.71568. eCollection 2024 Oct.

Abstract

Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare immunological central nervous system disorder that mostly affects children, and it is extremely uncommon in adults. It usually presents idiopathically, as a parainfectious condition, or as a paraneoplastic syndrome. We present a case of a patient who developed adult-onset opsoclonus-myoclonus-ataxia syndrome (OMAS) without any associated infectious or neoplastic disease, a condition that is considered very rare in Central America. This study aimed to document a rare case of adult-onset opsoclonus-myoclonus-ataxia syndrome in a 39-year-old female, highlighting its atypical presentation and the diagnostic challenges involved. The patient presented with a one-week history of rapid-onset and progressive dizziness, nausea, and vomiting, associated with a two-day history of gait instability, memory loss, and sleep disturbances. Past medical history was only notable for psoriatic arthritis controlled with methotrexate. The neurologic examination revealed involuntary, rapid, multidirectional eye saccades consistent with opsoclonus, fast-twitching and jerking movements of the head and bilateral upper extremities consistent with myoclonus, and a wide-based gait with instability indicative of ataxia, suggesting a diagnosis of OMAS. There were no motor or sensory deficits, seizures, fever, or symptoms suggestive of infections. Brain magnetic resonance imaging and computed tomography scan of the head, neck, thorax, abdomen, and pelvis with and without contrast showed no abnormalities. Breast, abdomen, and gynecologic ultrasound, esophagogastroduodenoscopy, and colonoscopy showed no lesions suggestive of underlying neoplasia. Cerebrospinal fluid (CSF) analysis showed mild hyperproteinorrhachia and lymphocytic pleocytosis, along with oligoclonal bands. Viral, bacterial, and autoimmune encephalitis panels were negative. CSF bacterial, mycobacterial, and fungi cultures were negative. Serum viral serologies, tumor markers, and antineuronal antibodies were negative. The patient received treatment with plasmapheresis, intravenous immunoglobulin, and methylprednisolone, with significant but partial improvement of her symptoms.

摘要

眼阵挛-肌阵挛-共济失调综合征(OMAS)是一种罕见的免疫性中枢神经系统疾病,主要影响儿童,在成人中极为罕见。它通常以特发性形式出现,也可作为副感染性疾病或副肿瘤综合征出现。我们报告一例成年发病的眼阵挛-肌阵挛-共济失调综合征(OMAS)患者,该患者无任何相关的感染或肿瘤疾病,这种情况在中美洲被认为非常罕见。本研究旨在记录一例39岁女性成年发病的眼阵挛-肌阵挛-共济失调综合征罕见病例,突出其非典型表现及所涉及的诊断挑战。患者有一周快速起病且进行性加重的头晕、恶心和呕吐病史,伴有两天的步态不稳、记忆力减退和睡眠障碍病史。既往病史仅以用甲氨蝶呤控制的银屑病关节炎较为显著。神经系统检查发现与眼阵挛一致的不自主、快速、多方向眼球扫视,与肌阵挛一致的头部和双侧上肢快速抽搐和跳动运动,以及提示共济失调的宽基底步态且不稳,提示诊断为OMAS。无运动或感觉缺陷、癫痫发作、发热或提示感染的症状。头颅、颈部、胸部、腹部和骨盆的磁共振成像及增强和未增强计算机断层扫描均未显示异常。乳腺、腹部和妇科超声、食管胃十二指肠镜检查及结肠镜检查均未发现提示潜在肿瘤的病变。脑脊液(CSF)分析显示轻度蛋白增高和淋巴细胞增多,伴有寡克隆带。病毒、细菌和自身免疫性脑炎检测均为阴性。脑脊液细菌、分枝杆菌和真菌培养均为阴性。血清病毒血清学、肿瘤标志物和抗神经元抗体均为阴性。患者接受了血浆置换、静脉注射免疫球蛋白和甲泼尼龙治疗,症状有显著但部分改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/534e/11564364/3a1678b702c9/cureus-0016-00000071568-i01.jpg

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