可能的抗谷氨酸脱羧酶65 (Gad65)抗体相关小脑性共济失调。临床病例报告及文献复习

J. Valinčiūtė, P. Petkevičiūtė, R. Balnytė, J. Čiauškaitė
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引用次数: 0

摘要

介绍。随着抗GAD65抗体引起的小脑共济失调的信息越来越多,小脑功能障碍越来越多地与自身免疫性原因相关。与抗GAD65抗体相关的其他神经系统综合征的患病率已被估计,但相同原因的小脑性共济失调的发生率尚未报道。抗gad65抗体诱导小脑性共济失调的临床表现和处理目前仅从单个病例和小系列报告中了解。 病例报告。我们报告一位52岁女性的临床病例,她因头晕、协调能力受损、偶尔窒息和言语不清而入院。进行了诊断程序,在脑MRI上检测到抗gad65抗体和小脑上部的萎缩变化,这可能导致诊断抗gad65抗体相关的小脑性共济失调。 讨论与文献回顾。患者多为60多岁的女性,临床症状为步态和姿势共济失调。大多数患者表现为眼球震颤、构音障碍和肢体共济失调。为了做出诊断,检测高滴度的抗gad65抗体,鞘内合成抗gad65抗体,并进行脑部MRI检查是至关重要的,随着疾病的进展,MRI可能会显示小脑萎缩。皮质类固醇是推荐的治疗方法之一,在我们的病例中是有效的。维持治疗对于预防疾病复发是必不可少的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Probable Anti-Glutamate Decarboxylase 65 (Gad65) Antibody-Associated Cerebellar Ataxia. Clinical Case Report and Literature Review
Introduction. As more information about cerebellar ataxia induced by anti- GAD65 antibodies is accumulated, cerebellar dysfunction is increasingly associated with autoimmune causes. The prevalence of other neurological syndromes associated with anti- GAD65 antibodies has been estimated, but the occurrence of cerebellar ataxia of the same cause has not yet been reported. The clinical presentation and management of anti-GAD65 antibodies induced cerebellar ataxia are currently known only from single cases and small series reports. Case report. We present a clinical case of a 52-year-old woman who was admitted to the hospital due to dizziness, impaired coordination, occasional choking, and slurred speech. Diagnostic procedures were performed, in which anti-GAD65 antibodies and atrophic changes in the upper parts of the cerebellum were detected on brain MRI, which led to a possible diagnosis of anti-GAD65 antibody-associated cerebellar ataxia. Discussion and literature review. Patients tend to be women in their 60s with clinical symptoms such as gait and posture ataxia. Most patients present with nystagmus, dysarthria, and limb ataxia. To make the diagnosis, it is crucial to detect high titers of anti-GAD65 antibodies, do intrathecal anti-GAD65 antibody synthesis, and perform a brain MRI, which may reveal atrophy of the cerebellum as the disease progresses. Corticosteroids are one of the recommended treatment methods, which were effective in our case. Maintenance therapy is essential to prevent relapse of the disease.
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