Kashipazha Davood, Bahramy Mohammad Ali, Razaghi Mahshad, Rahimi Zeinab
Department of Neurology Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran.
Department of Neurology Naft Grand Hospital Ahvaz Iran.
Clin Case Rep. 2024 Jul 24;12(8):e9027. doi: 10.1002/ccr3.9027. eCollection 2024 Aug.
We reported a pediatric case of SuS with a complete diagnosis triad. Although the optimal treatment of SS is unclear, prompt diagnosis and treatment can result in almost a complete recovery.
Susac's syndrome (SuS) is a rare, autoimmune disorder known as a typical triad of sensorineural hearing impairment, central nervous system involvement, and multiple branch retinal artery occlusions (BRAOs). It is usually misdiagnosed or underdiagnosed because its symptoms may vary at the presentation time. Diagnosis can be established based on neuroimaging, ophthalmic examination, and audiometry, which match the clinical symptoms. SuS is very limited and rare in childhood and can be easily misdiagnosed with multiple sclerosis or acute disseminated encephalomyelitis. We report a 16-year-old boy patient with a completed SuS triad including BRAO in fluorescent angiography (FA), mild to moderate sensory neural hearing loss (SNHL), "Snowball lesions," and "pearl of string" signs in magnetic resonance imaging (MRI). Successful treatment was achieved with methylprednisolone, rituximab, azathioprine, cyclophosphamide, and plasmapheresis. SuS is a rare disorder, which rarely presents with a full triad and all the manifestations may not be present at the onset of the disease, leading to misdiagnosis or underdiagnosis. Our case is exceptional because he was in a pediatric age and presented with a complete triad of SuS which adds to the rarity of this disease. Although optimal treatment of SuS is unclear, our treatment regimen resulted in almost a complete recovery.
我们报告了一例具有完整诊断三联征的小儿Susac综合征（SuS）病例。尽管SuS的最佳治疗方法尚不清楚，但及时诊断和治疗可导致几乎完全康复。
Susac综合征（SuS）是一种罕见的自身免疫性疾病，以感音神经性听力障碍、中枢神经系统受累和多发性视网膜分支动脉阻塞（BRAO）这一典型三联征为特征。由于其症状在发病时可能有所不同，该病通常被误诊或诊断不足。可根据与临床症状相符的神经影像学、眼科检查和听力测定来确诊。SuS在儿童期非常罕见，很容易被误诊为多发性硬化症或急性播散性脑脊髓炎。我们报告了一名16岁男性患者，其具有完整的SuS三联征，包括荧光血管造影（FA）显示BRAO、轻度至中度感音神经性听力损失（SNHL）、磁共振成像（MRI）显示“雪球样病变”和“串珠样征”。通过甲泼尼龙、利妥昔单抗、硫唑嘌呤、环磷酰胺和血浆置换成功实现了治疗。SuS是一种罕见疾病，很少出现完整的三联征，且所有表现可能在疾病发作时并不都出现，从而导致误诊或诊断不足。我们的病例很特殊，因为患者为儿童，且呈现出完整的SuS三联征，这增加了该疾病的罕见性。尽管SuS的最佳治疗方法尚不清楚，但我们的治疗方案导致了几乎完全康复。
