Abstract:
IgLON5 autoimmunity is a novel antibody-mediated disorder characterized by serum and/or cerebrospinal fluid (CSF) positivity for IgLON5 antibody. Anti-IgLON5 disease mainly manifests as sleep disturbances, movement disorders and brainstem syndromes. In this study, we report the case of a patient with anti-IgLON5 disease who presented with abdominal distension, abdominal pain, intermittent dysuria and constipation, and intermittent lightning pain in the extremities, which are atypical of anti-IgLON5 disease and could easily lead to misdiagnosis. After performing autoantibody screening, we considered anti-IgLON5 disease. The patient was started on a course of immunotherapy with intravenous dexamethasone, intravenous immunoglobulin (IVIG) and oral azathioprine (Imuran). Following treatment, the manifestations nearly resolved. The clinical manifestations of anti-IgLON5 disease are diverse and may present in different combinations, which can easily lead to misdiagnosis. Early recognition and treatment of this autoimmune disease with immunosuppressive agents may lead to better outcomes.
摘要:
IgLON5自身免疫是一种新型抗体介导的疾病,其特征是血清和/或脑脊液(CSF)对IgLON5抗体呈阳性。抗IgLON5疾病主要表现为睡眠障碍,运动障碍和脑干综合征。在这项研究中,我们报告了一例抗IgLON5疾病的患者,他表现为腹胀,腹痛,间歇性排尿困难和便秘,四肢间歇性闪电疼痛,抗IgLON5病不典型,易导致误诊。在进行自身抗体筛查后,我们考虑抗IgLON5病。患者开始接受静脉注射地塞米松的免疫治疗,静脉注射免疫球蛋白(IVIG)和口服硫唑嘌呤。治疗后,这些表现几乎解决了。抗IgLON5疾病的临床表现是多样的,可能存在不同的组合,这很容易导致误诊。早期识别和使用免疫抑制剂治疗这种自身免疫性疾病可能会导致更好的结果。