抗IgLON5病中的夜间行为、喘鸣和反复呼吸衰竭

文献信息

中文摘要

抗IgLON5病是一种罕见的自身免疫性脑病，合并tau蛋白病，以睡眠功能障碍和脑干受累为特征。一名77岁女性出现阻塞性睡眠呼吸暂停和反复高碳酸血症性呼吸衰竭，需要反复插管，最初被误诊为癫痫。视频记录捕捉到复杂的夜间行为，包括睡眠中祈祷和施舍，同时伴有吸气性喘鸣和进食时睡眠发作。系列多导睡眠图记录了睡眠纺锤波的进行性丧失和未分化的非快速眼动睡眠。脑影像仅显示轻度皮质、小脑和脑干萎缩。她的血清和脑脊液中存在抗IgLON5抗体。在静脉注射甲泼尼龙和随后利妥昔单抗治疗后，她的病情部分改善，目前仍在随访中。对于治疗抵抗性睡眠呼吸障碍、喉功能障碍和夜间运动行为的患者，应进行抗IgLON5病检测。

英文摘要

Anti-IgLON5 disease is a rare autoimmune encephalopathy with concurrent tauopathy, characterised by sleep dysfunction and brainstem involvement. A 77-year-old woman developed obstructive sleep apnoea and recurrent hypercapnic respiratory failure requiring repeated intubation, initially misdiagnosed as epilepsy. Video recordings captured elaborate nocturnal behaviours, including praying and offering alms during sleep, alongside inspiratory stridor and sleep attacks during eating. Serial polysomnography documented progressive loss of sleep spindles and undifferentiated non-rapid eye movement sleep. Brain imaging showed only mild cortical, cerebellar and brainstem atrophy. She had anti-IgLON5 antibodies in serum and cerebrospinal fluid. Her condition partially improved after intravenous methylprednisolone and then rituximab, and she remains under follow-up. Patients with treatment-resistant sleep-disordered breathing, laryngeal dysfunction and nocturnal motor behaviours should be tested for anti-IgLON5 disease.