Schröder Jens Burchard, Melzer Nico, Ruck Tobias, Heidbreder Anna, Kleffner Ilka, Dittrich Ralf, Muhle Paul, Warnecke Tobias, Dziewas Rainer
Division of Sleep Medicine and Neuromuscular Disorders (A.H.), Department of Neurology (J.B.S., N.M., T.R., A.H., I.K., R.D., P.M., T.W., R.D.), University of Münster, Germany.
Neurol Neuroimmunol Neuroinflamm. 2016 Nov 22;4(1):e302. doi: 10.1212/NXI.0000000000000302. eCollection 2017 Jan.
To report on dysphagia as initial sign in a case of anti-IgLON5 syndrome and provide an overview of the current literature.
The diagnostic workup included cerebral MRI, fiber optic endoscopic evaluation of swallowing (FEES) with the FEES tensilon test, a videofluoroscopic swallowing study, evoked potentials and peripheral nerve conduction studies, polysomnography, lumbar puncture, and screening for neural autoantibodies. A systematic review of all published cases of IgLON5 syndrome is provided.
We report a case of anti-IgLON5 syndrome presenting with slowly progressive neurogenic dysphagia. FEES revealed severe neurogenic dysphagia and bilateral palsy of the vocal cords. Autoantibody screening was positive for IgLON5 IgG (+++, 1:1,000) serum levels but no other known neural autoantibody. Polysomnography was highly suggestive of non-REM parasomnia. Symptoms were partially responsive to immunotherapy.
Slowly progressive neurogenic dysphagia may occur as initial sign of anti-IgLON5 syndrome highlighting another clinical presentation of this rare disease.
报告1例抗IgLON5综合征以吞咽困难为首发症状的病例，并对当前文献进行综述。
诊断性检查包括脑部磁共振成像（MRI）、吞咽功能的纤维光学内镜评估（FEES）及FEES腾喜龙试验、电视荧光吞咽造影检查、诱发电位和周围神经传导研究、多导睡眠图、腰椎穿刺以及神经自身抗体筛查。对所有已发表的IgLON5综合征病例进行了系统评价。
我们报告1例抗IgLON5综合征患者，表现为缓慢进展的神经源性吞咽困难。FEES显示严重的神经源性吞咽困难和双侧声带麻痹。自身抗体筛查显示IgLON5 IgG血清水平呈阳性（+++，1:1,000），但未发现其他已知的神经自身抗体。多导睡眠图高度提示非快速眼动期睡眠行为障碍。症状对免疫治疗有部分反应。
缓慢进展的神经源性吞咽困难可能是抗IgLON5综合征的首发症状，凸显了这种罕见疾病的另一种临床表现。
