未经证实:抗IgLON5病是一种罕见的神经系统疾病,其特征是临床表现多样。尽管已经报道了许多相关病例,我们对这种疾病的理解仍然相当有限。我们介绍了一例罕见的抗IgLON5疾病病例,并对所有已发表的病例进行了全面的系统评价,以扩大该疾病的临床范围。
UNASSIGNED:我们报告了一名61岁女性患者,其右侧海马区出现异常信号,表现为非典型性癫痫发作。对电子数据库进行了系统审查,包括PubMed,EMBASE,中国国家知识基础设施(CNKI),万方和贵宾中国科学。
UASSIGNED:我们从65种出版物中确定了161例病例。临床表现异质性,我们发现球功能障碍,睡眠呼吸暂停,步态不稳定和神经认知和行为症状是抗IgLON5疾病最常见的症状。抗IgLON5抗体在血清中的阳性率和滴度高于脑脊液(CSF)。单倍型DRB1*10:01-DQB1*05:01与抗IgLON5疾病高度相关。只有38例患者出现了独特的MRI改变(26.2%)。大约一半的病例对免疫抑制或免疫调节治疗有反应。
UASSIGNED:抗IgLON5疾病的特征是各种临床表现和实验室检查结果。免疫治疗可有效治疗抗IgLON5疾病,但是结果远不能令人满意。需要进行更大样本量的研究,以提高当前对这种疾病的理解。
UNASSIGNED: Anti-IgLON5 disease is an uncommon neurological disorder characterized by diverse clinical manifestations. Although many relevant cases have been reported, our understanding of this disorder is still quite restricted. We present a rare case of anti-IgLON5 disease and performed a comprehensive systematic review of all published cases to expand the clinical spectrum of this disorder.
UNASSIGNED: We report a 61-year-old woman with an atypical presentation of epileptic seizures with abnormal signals in her right hippocampus on brain magnetic resonance imaging (MRI). A systematic review was performed of electronic databases, including PubMed, EMBASE, China National Knowledge Infrastructure (CNKI), WanFang and VIP China Science.
UNASSIGNED: We identified 161 cases from 65 publications. With heterogeneous clinical manifestations, we found that bulbar dysfunction, sleep apnea, gait instability and neurocognitive and behavioral symptoms are the most common symptoms of anti-IgLON5 disease. Anti-IgLON5 antibodies presented a higher positive rate and titer in the serum than in the cerebrospinal fluid (CSF). Haplotype DRB1*10:01-DQB1*05:01 is highly correlated with anti-IgLON5 disease. Only 38 patients have presented distinctive MRI alterations (26.2%). Approximately half of the cases are responsive to immunosuppressive or immunomodulatory treatment.
UNASSIGNED: Anti-IgLON5 disease is characterized by various clinical manifestations and laboratory findings. Immunotherapy may be effective in treating anti-IgLON5 disease, but the results are far from satisfactory. Studies with larger sample sizes are required to improve the current understanding of this disorder.