Tsikvadze Mariam, Machado De Villafane Baltazar, Rose Mariah, Peacock Sarah, Peel Jeffrey Brent, Ng Lauren, Kramer Christopher, Freeman William D
Department of Neurocritical Care, Mayo Clinic Florida, Jacksonville, FL, USA.
The Favoloro Foundation University Hospital, Buenos Aires, Argentina.
Neurohospitalist. 2024 Jan;14(1):87-94. doi: 10.1177/19418744231196625. Epub 2023 Aug 23.
Susac Syndrome was first described as an inflammatory microangiopathy of the brain and retina. Since then, multiple articles have been published in attempts to improve the understanding of this rare disease. Clinically Susac Syndrome is known to present with triad of encephalopathy, sensorineural hearing loss and branch of retinal artery occlusion (BRAO), along with characteristic "snowball" or "spoke" appearing white matter lesions of the corpus callosum. It has been characterized by vast heterogeneity in terms of its presenting symptoms, severity, and clinical course. Although subset of patients present with severe forms of Susac Syndrome and can develop prominent residual neurologic deficits, it has been reported to be mostly non-life-threatening and only few fatal cases have been described in the literature. Based on the available case reports with fatal outcome, mortality has been related to the systemic complications either during acute disease flare or during chronic-progressive phase. We describe a case of fulminant Susac Syndrome complicated by the sudden and rapid progression of diffuse cerebral edema leading to brain herniation and ultimate brain death, in order to increase awareness of this rare and catastrophic complication.
苏萨克综合征最初被描述为一种脑和视网膜的炎症性微血管病。从那时起,已经发表了多篇文章,试图增进对这种罕见疾病的了解。临床上,苏萨克综合征的表现为脑病、感音神经性听力损失和视网膜动脉分支阻塞(BRAO)三联征,以及胼胝体出现特征性的“雪球”或“辐条”样白质病变。其表现症状、严重程度和临床病程具有很大的异质性。虽然一部分患者表现为严重形式的苏萨克综合征,并可能出现明显的残留神经功能缺损,但据报道该疾病大多不危及生命,文献中仅描述了少数致命病例。根据已有的致命结局病例报告,死亡率与急性疾病发作期或慢性进展期的全身并发症有关。我们描述了一例暴发性苏萨克综合征,并发弥漫性脑水肿的突然快速进展,导致脑疝形成和最终脑死亡,以提高对这种罕见且灾难性并发症的认识。