Characteristics of Susac syndrome: a review of all reported cases

Abstract

In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care. Current knowledge on Susac syndrome is largely based on reports of single patients, small case series, and nonsystematic reviews. The aim of this Review is to extend these previous, primarily anecdotal findings by compiling data from all 304 cases of Susac syndrome that have been published worldwide, which were identified following a literature search with predefined search, inclusion and exclusion criteria. From this data, we present an overview of demographic, clinical and diagnostic data on Susac syndrome, providing a reliable basis for our current understanding of this rare disease. Where possible, we make recommendations for clinical diagnosis, differential diagnosis, and management of patients with suspected Susac syndrome.

Headache in a young woman: do not forget Susac’s syndrome

“…Unlike our case, the clinical triad occurs at disease onset in only a minority of patients. In fact, the largest meta-analysis published by Dorr et al found that only 13% of patients show the clinical triad at disease onset (4). That is why SS may be underdiagnosed.…”

Clinical Reasoning: An unusual diagnostic triad

“…1,2 The clinical triad of subacute encephalopathy, BRAO, and sensorineural hearing loss is diagnostic for this syndrome. 3,4 Clinical course. Based on expert guidelines, the patient was treated with IV methylprednisolone (1 g/daily for 3 consecutive days), IV immunoglobulin (IVIg), and IV cyclophosphamide followed by an oral prednisone taper and plans for monthly IVIg and cyclophosphamide infusions.…”

“…7 The average age at onset is 31.6 years (range 20-40 years) and it affects woman disproprotionately. 3,7 In addition to encephalopathy, BRAOs, and hearing loss, common clinical manifestations include impaired cognition and memory, ataxia, dysarthria, vertigo, corticospinal tract dysfunction, and headache with migrainous features in approximately half of cases. There has been no evidence of hereditary transmission and the etiology is thought to be autoimmune.…”

“…The presence of oligoclonal bands in the CSF does not exclude a diagnosis of Susac syndrome. 3 The natural course of Susac syndrome is unpredictable but can be classified into 3 groups: monophasic, polycyclic, and chronic continuous. 1 Most patients have a monophasic course, characterized by a single, self-limiting episode that lasts less than 2 years.…”

Transient Blurred Vision in a Neurologically Decompensating Patient

“…Headaches at the onset of disease presentation are common (approximately 80%). 2 Encephalopathy is the most common initial symptom.…”