Urso Daniele, De Blasi Roberto, Anastasia Antonio, Gnoni Valentina, Rizzo Valentina, Nigro Salvatore, Tafuri Benedetta, Iacolucci Carlo Maria, Zecca Chiara, Dell'Abate Maria Teresa, Andreetta Francesca, Logroscino Giancarlo
Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, University of Bari 'Aldo Moro', "Pia Fondazione Cardinale G. Panico", 73039 Tricase, Italy.
Department of Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, London SE5 8AF, UK.
Diagnostics (Basel). 2022 Mar 30;12(4):849. doi: 10.3390/diagnostics12040849.
Anti-IgLON5 disease is a recently described autoimmune neurodegenerative disorder characterized by insidious onset, slow progression and a variety of neurological features. Neuroimaging in most patients with anti-IgLON5 disease is normal or shows nonspecific findings. Here, we report a case of anti-IgLON5 disease presenting with parkinsonism, falls, sleep problems with severe nocturnal dyspnea attacks, dysphagia, and dysautonomia. Imaging findings were initially suggestive of progressive supranuclear palsy. An altered cerebrospinal fluid dynamic was found on an MRI as well as high-convexity hyperperfusion on a brain SPECT. Further case descriptions with neuroimaging are required to characterize cerebral and cerebrospinal fluid dynamics abnormalities in this rare condition.
抗IgLON5病是一种最近描述的自身免疫性神经退行性疾病，其特征为隐匿起病、进展缓慢且具有多种神经学特征。大多数抗IgLON5病患者的神经影像学检查结果正常或显示非特异性表现。在此，我们报告一例抗IgLON5病患者，其表现为帕金森综合征、跌倒、伴有严重夜间呼吸困难发作的睡眠问题、吞咽困难和自主神经功能障碍。影像学检查结果最初提示为进行性核上性麻痹。MRI显示脑脊液动力学改变，脑SPECT显示大脑凸面高灌注。需要更多伴有神经影像学检查的病例描述来明确这种罕见疾病的脑和脑脊液动力学异常特征。
