Qin Shiyuan, Wang Ying
Department of Neurology, The Second Affiliated Hospital of Kunming Medical University, Kunming, 650031, China.
Heliyon. 2024 Aug 29;10(17):e36451. doi: 10.1016/j.heliyon.2024.e36451. eCollection 2024 Sep 15.
Anti-IgLON family protein 5 (IgLON5) antibody-related encephalitis is a rare but increasingly recognized central nervous system autoimmune disease. It displays heterogeneity in clinical presentation. As the clinical case repository expands, our understanding of the disease's clinical phenotypes and therapeutic approaches continues to evolve. This report details a 73-year-old male's case, initially misdiagnosed with narcolepsy due to excessive daytime sleepiness and sleep-related involuntary behaviors, but later found to have severe respiratory disturbances, diverging from narcolepsy. During treatment, the patient's condition progressed to respiratory failure, necessitating further investigation. Diagnosis was confirmed through positive serum and cerebrospinal fluid (CSF) tests for anti-IgLON5 antibodies. Treatment with continuous positive airway pressure (CPAP), immunoglobulin pH4, and corticosteroids significantly improved his condition. This case underscores the critical need for awareness of anti-IgLON5 encephalitis within the differential diagnosis of complex sleep disorders, highlighting its potential for severe progression and the challenges associated with its diagnosis.
抗免疫球蛋白LON5(IgLON5)家族蛋白抗体相关脑炎是一种罕见但日益被认识的中枢神经系统自身免疫性疾病。其临床表现具有异质性。随着临床病例库的扩大,我们对该疾病临床表型和治疗方法的认识不断发展。本报告详细介绍了一名73岁男性的病例,该患者最初因日间过度嗜睡和与睡眠相关的不自主行为被误诊为发作性睡病,但后来发现有严重的呼吸障碍,与发作性睡病不同。在治疗过程中,患者病情进展为呼吸衰竭,需要进一步检查。通过血清和脑脊液(CSF)抗IgLON5抗体检测呈阳性确诊。持续气道正压通气(CPAP)、pH4免疫球蛋白和皮质类固醇治疗使他的病情有显著改善。该病例强调了在复杂睡眠障碍的鉴别诊断中认识抗IgLON5脑炎的迫切需要,突出了其严重进展的可能性以及诊断相关的挑战。