Diagnosis and classification of Susac syndrome

Abstract

Susac syndrome (SS) is an autoimmune disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and neuro-sensorial hearing loss; it is due to a microangiopathy affecting the precapillary arterioles of the brain, retina and inner ear. SS is characterized by typical radiological features on magnetic resonance imaging (MRI) which, together with clinical symptoms, may permit a diagnosis. Branch retinal artery occlusions (BRAOs) are best evaluated using fluorescein angiography (FA) which may show the typical multifocal fluorescence. SS is an autoimmune endotheliopathy that requires treatment with immunosuppressive agents: steroids, azathioprine, mycophenolate mofetil, methotrexate, cyclophosphamide and intravenous immunoglobulin, usually in combination. Plasma exchange is also useful. In addition, antiplatelet agents may be a useful adjunct. Correct immunosuppressive therapy results in significant clinical and radiological improvement. An early diagnosis and treatment are important to delay the disease progression and prevent permanent disability.

Susac-Like Syndrome in a Chronic Cocaine Abuser: Could Levamisole Play a Role?

“…Among inflammatory brain disorders, Susac syndrome is a rare disease featured by the triad of encephalopathy, branch retinal arteries occlusions, and hearing loss [7]. To date, the pathogenesis of this syndrome is unknown and toxic etiologies have been poorly investigated [8]. We herein report a case of devastating leukoencephalopathy with typical radiological pattern of Susac syndrome, with a rapid deterioration of consciousness.…”

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

“…Also interesting was the hypothesis that SS represents an autoimmune endotheliopathy/ coagulopathy similar to the catastrophic antiphospholipid syndrome. It is suggested that previous infections acting as a trigger may play a part in the pathogenesis of SS (6). Some authors have hypothesized that anti-endothelial cell antibodies could play a role in either mediating or reflecting the endothelial cell injury in Susac's syndrome because they have been reported in Susac's syndrome patients.…”

Clinical Reasoning: An unusual diagnostic triad

“…Ancillary testing that can help to secure a diagnosis includes fluorescein angiography of the retina to evaluate for BRAOs and pure tone audiometry testing to evaluate for low to mid-frequency sensorineural hearing loss. 1,4 Brain MRI can support the diagnosis by showing multiple small foci of high T2 signal intensity, diffuse restriction, and contrast enhancement throughout both gray and white matter in the cerebrum, particularly the corpus callosum. 7 The corpus callosum lesions favor central locations, as opposed to multiple sclerosis lesions, which favor the callosal-septal interface.…”

“…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.…”