Karalok Zeynep Selen, Taskin Birce Dilge, Guven Alev, Ucgul Cemile Atilgan, Aydin Omer Faruk
Department of Pediatric Neurology, Ankara Children's Hematology Oncology Research and Training Hospital, Ankara, Turkey.
Department of Opthalmology, Ulucanlar Eyes Training and Research Hospital, Ankara, Turkey.
J Pediatr Neurosci. 2017 Oct-Dec;12(4):374-377. doi: 10.4103/jpn.JPN_128_17.
Susac's syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging revealed multiple lesions in the corpus callosum. Cerebrospinal fluid findings gave normal results. The initial diagnosis was MS and steroid (1000 mg/day) was given. She started to describe hallucinations and became paraplegic. She then underwent plasmapheresis five times without response. Her electroencephalogram was diffusely slow with 2-3 Hz delta rhythm at the frontal regions. Audiological examination showed that she had sensorineural hearing loss in her left ear. Ophthalmologic evaluation revealed BRAO in both eyes. On the basis of these findings, she was diagnosed with SS and treated with intravenous immunoglobulin (IVIG) and aspirin. After monthly treatment with IVIG for 6 months, the patient has almost fully recovered. SS should be kept in mind in the differential diagnosis of MS and ADEM.
Susac综合征(SS)是一种因脑、视网膜和内耳微血管闭塞而导致的脑病、视网膜分支动脉阻塞(BRAO)和感音神经性听力损失三联征。它也是一种自身免疫性内皮病变疾病。SS通常影响20至40岁的年轻女性。由于表现相似,SS可能被误诊为多发性硬化症(MS)或急性播散性脑脊髓炎(ADEM)。一名15岁女孩于2015年6月出现呕吐和严重头痛。脑磁共振成像显示胼胝体有多个病变。脑脊液检查结果正常。初步诊断为MS,并给予类固醇(1000毫克/天)治疗。她开始出现幻觉并发展为截瘫。随后她接受了5次血浆置换但无反应。她的脑电图弥漫性减慢,额叶区域有2至3赫兹的δ节律。听力检查显示她左耳有感音神经性听力损失。眼科评估显示双眼均有BRAO。基于这些发现,她被诊断为SS,并接受静脉注射免疫球蛋白(IVIG)和阿司匹林治疗。在每月接受IVIG治疗6个月后,患者几乎完全康复。在MS和ADEM的鉴别诊断中应考虑到SS。