PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■我们报道了一例诊断为三联征的SuS儿科病例。尽管SS的最佳治疗方法尚不清楚，及时诊断和治疗可以导致几乎完全康复。
■Susac\综合征（SuS）是一种罕见的，自身免疫性疾病被称为感音神经性听力障碍的典型三联征，中枢神经系统受累，和多个视网膜分支动脉阻塞（BRAOs）。它通常被误诊或未被诊断，因为它的症状可能在出现时有所不同。诊断可以建立在神经影像学的基础上，眼科检查,和测听法,符合临床症状.SuS在儿童时期非常有限且罕见，很容易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岁的男孩患者，在荧光血管造影（FA）中完成了SuS三联征，包括BRAO，轻度至中度感觉神经听力损失（SNHL），\"雪球病变，磁共振成像（MRI）中的“和”字符串珍珠”标志。甲基强的松龙成功治疗，利妥昔单抗,硫唑嘌呤，环磷酰胺,和血浆置换.SuS是一种罕见的疾病,很少出现完整的三合会，并且在疾病发作时可能不会出现所有表现，导致误诊或漏诊。我们的病例是特殊的，因为他处于儿科年龄，并且具有完整的SuS三联征，这增加了这种疾病的罕见性。尽管SuS的最佳治疗方法尚不清楚，我们的治疗方案导致了几乎完全恢复.
■Susac\综合征（SuS）是一种罕见的，自身免疫性疾病被称为感音神经性听力障碍的典型三联征，中枢神经系统受累，和多个视网膜分支动脉阻塞（BRAOs）。它通常被误诊或未被诊断，因为它的症状可能在出现时有所不同。诊断可以建立在神经影像学的基础上，眼科检查,和测听法,符合临床症状.SuS在儿童时期非常有限且罕见，很容易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岁的男孩患者，在荧光血管造影（FA）中完成了SuS三联征，包括BRAO，轻度至中度感觉神经听力损失（SNHL），\"雪球病变，磁共振成像（MRI）中的“和”字符串珍珠”标志。甲基强的松龙成功治疗，利妥昔单抗,硫唑嘌呤，环磷酰胺,和血浆置换.SuS是一种罕见的疾病,很少出现完整的三合会，并且在疾病发作时可能不会出现所有表现，导致误诊或漏诊。我们的病例是特殊的，因为他处于儿科年龄，并且具有完整的SuS三联征，这增加了这种疾病的罕见性。尽管SuS的最佳治疗方法尚不清楚，我们的治疗方案导致了几乎完全恢复.
