SEZ6L2 Antibody-Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy.
SEZ6L2 Antibody-Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy.
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DOI：
10.1212/nxi.0000000000001131
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发表时间：
2022-03
期刊：
影响因子：
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通讯作者：
Sipilä J
中科院分区：
文献类型：
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作者：
Mehdiyeva A;Hietaharju A;Sipilä J
癫痫发作相关6同系物样2（SEZ6L2）抗体相关性共济失调是一种极其罕见的疾病。已经报告了6例患者，其中没有一个在免疫治疗后有明显改善。在此，我们提出了一个小脑共济失调和SEZ6L2抗体的患者谁受益于免疫治疗，这大大改变了她的疾病的过程中。我们提出了一个病例报告的73岁女子进行性平衡问题。她的病情在入院前2周迅速恶化，导致反复福尔斯跌倒，最终导致她卧床不起。她表现为严重的躯干共济失调、双向眼球震颤、构音障碍和持续恶心。除小脑萎缩外，广泛的影像学研究显示无病理变化。在CSF和血清中均发现SEZ6L2抗体。在9个月的时间里，我们的病人接受了免疫治疗，包括类固醇脉冲治疗，IV免疫球蛋白输注，利妥昔单抗和环磷酰胺。因此，她的病情明显改善，她从神经康复科出院回家。我们的病例报告显示，强烈的序贯免疫治疗可能会大大改善一些SEZ6L2抗体相关小脑共济失调患者的功能水平。这是第四类证据。这是一项没有对照的单一观察性研究。
Seizure-related 6 homolog like 2 (SEZ6L2) antibody–associated ataxia is an extremely rare disease. Six patients have been reported and none of them improved significantly with immunotherapy. Herein, we present the case of a patient with cerebellar ataxia and SEZ6L2 antibodies who benefited from immunotherapy, which dramatically altered the course of her disease. We present a case report of a 73-year-old woman with progressive balance problems. Her condition had rapidly deteriorated in the 2 weeks before the admission to our hospital leading to repeated falls and eventually left her bed-ridden. She presented with severe trunk ataxia, bidirectional nystagmus, dysarthric speech, and persistent nausea. With the exception of cerebellar atrophy, extensive imaging studies revealed no pathology. SEZ6L2 antibodies were found in both CSF and serum. Over a period of 9 months, our patient received immunotherapy consisting of steroid pulse therapy, IV immunoglobulin infusions, rituximab, and cyclophosphamide. Consequently, her condition improved markedly, and she was discharged home from the neurologic rehabilitation unit. Our case report shows that intense sequential immunotherapy may considerably improve level of functioning in some patients with SEZ6L2 antibody–associated cerebellar ataxia. This provides Class IV evidence. It is a single observational study without controls.