Susac's syndrome — Pathogenesis, clinical variants and treatment approaches

Greco, Antonio; Virgilio, Armando De; Gallo, Andrea; Fusconi, Massimo; Turchetta, Rosaria; Tombolini, Mario; Rizzo, Maria Ida; Vincentiis, Marco de

doi:10.1016/j.autrev.2014.04.004

Cited by 71 publications

(39 citation statements)

References 68 publications

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“…A broad spectrum of differential diagnosis includes autoimmune diseases (systemic lupus erythematosus, neuro-Behçet disease) demyelinating diseases (multiple sclerosis, acute disseminated encephalomyelitis), and vascular occlusion (atherosclerosis or embolic disorders). Even if MRI findings may mimic other neurological disorders, the observance, as in our case, of lesions of the corpus callosum, which is always involved in SS, enhances the suspicion of SS, especially when there are coexisting auditory or BRAO problems (11). It seems important to emphasize that, given the scarcity of the clinical triad at SS onset, a diagnosis based solely on the presence of the complete triad may not be appropriate.…”

Section: Case Reportmentioning

confidence: 85%

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

et al. 2017

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SUMMARYSusac syndrome is a rare disease characterized by the clinical triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. This underdiagnosed condition needs to be considered in the differential diagnosis of a broad variety of disorders. An early diagnosis is important as treatment can halt disease progression and prevent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the importance of an aggressive therapeutic approach, including the combination of steroids and other cytotoxic drugs.Key words: Susac's syndrome; Headache; Young woman. Reumatismo, 2017; 69 (3): 122-125 n INTRODUCTION S usac's syndrome (SS), also known as retinocochleocerebral vasculopathy, is a rare condition that was first reported in 1973 (1). Although SS pathophysiology remains mysterious, it is now thought that it is most probably an immune-mediated endotheliopathy affecting the precapillary arterioles of the brain, retina, and inner ear (2). Although the clinical triad of encephalopathy, branch retinal artery occlusions (BRAO), and sensorineural hearing loss, representing the main feature of SS, is increasingly recognized, SS remains often underdiagnosed particularly at the early stage (3). Herein, we report a case of a 30-year-old woman with SS and we highlight the difficulties of an early diagnosis and adequate treatment. n CASE REPORTA 31-year-old woman was admitted to our department with a history of two months of severe headache, blurry vision and sudden painless vision deterioration in the left eye (LE). A review of the remaining medical history was unremarkable. Particularly, there were no hearing difficulties, no cognitive impairment, no memory loss, no vertigo, no psychiatric disorders and no weakness. The patient denied any infectious exposure or seizure. On physical examination, she was afebrile, and conscious. Blood pressure was normal and all peripheral pulses were palpable and symmetrical. There were no pertinent findings especially from examination of cardiovascular, pulmonary and neurological systems. Ophthalmic examination in the LE revealed BRAO with retinal cloudy swelling at the upper part of the macula. The rest of the ophthalmic examination showed no abnormalities. The right eye (RE) was completely normal with vision of 10/10. Laboratory tests showed no relevant alterations in blood cell count, hemostasis tests, renal and liver function, electrolytes, or lipid panel. There was no biological inflammatory syndrome. Tests for antinuclear antibodies (ANA), anti double stranded DNA (dsDNA), extractable nuclear antigen (ENA) panel, anti-neutrophil cytoplasmic antibodies (ANCA), anti-prothrombin antibodies and antiphospholipid antibodies were negative. Electrocardiogram, and echography of the supra-aortic trunks showed no ab- o n l y vent permanent disability. Herein, we report a case of Susac syndrome in a 31-year-old woman and we highlight how challenging an early diagnosis was and the...

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Section: Case Reportmentioning

confidence: 85%

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

et al. 2017

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“…La deuxième difficulté diagnostique réside dans le fait que les élé-ments manquants de la triade doivent être spécifiquement recherchés, même en l'absence de signe clinique évident, par la réalisation d'examens complémentaires tels qu'une angiographie rétinienne à la fluorescéine ou une audiométrie tonale et vocale et une IRM cérébrale. Les premiers symptômes sont le plus souvent neurologiques (chez deux tiers des patients), mais parfois rétiniens ou cochléovestibulaires [4].…”

Section: Discussionunclassified

Syndrome de Susac fébrile mimant une encéphalite infectieuse aiguë

Tran

Ferrari

Broucker

2016

Pratique Neurologique - FMC

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“…Visual complaints may mislead the physician to a diagnosis of migraine (1,3,(5)(6)(7)(8)(9). Moreover, the patients may have psychiatric symptoms, changes in personality and present with encephalopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the patients may have psychiatric symptoms, changes in personality and present with encephalopathy. Many patients initially consult a medical doctor because of visual disturbance or hearing loss, or both (2,7,12,13).…”

Section: Discussionmentioning

confidence: 99%