Susac's syndrome: 1975-2005 microangiopathy/autoimmune endotheliopathy.

Neurology and Neurosurgery Associates, P.A., 50 2nd Street S.E., Winter Haven, FL 33880 USA.
Journal of the Neurological Sciences (Impact Factor: 2.26). 07/2007; 257(1-2):270-2. DOI: 10.1016/j.jns.2007.01.036
Source: PubMed

ABSTRACT Susac's syndrome (SS) consists of the clinical triad of encephalopathy, branch retinal artery occlusions (BRAO) and hearing loss. It is due to a microangiopathy affecting the precapillary arterioles of the brain, retina, and inner ear (cochlea and semicircular canals). Women are more commonly affected than men (3:1); the age of onset ranges from 9 to 58 years; but young women between the ages of 20 and 40 are most vulnerable. The encephalopathy is almost always accompanied by headache which may be the presenting feature. Multifocal neurological signs and symptoms, psychiatric disturbances, cognitive changes, memory loss, and confusion may rapidly progress to dementia. The MRI shows a distinctive white matter disturbance that always affects the corpus callosum. The central callosal fibers are particularly vulnerable and central callosal holes develop as the active lesions resolve. Linear defects (spokes) and rather large round lesions (snowballs) sometime dominate the MRI findings, which include cortical, deep gray (70%) and leptomeningeal involvement (33%). Frequently, the lesions enhance and may be evident on diffusion weighted imaging (DWI). The BRAO are best evaluated with fluorescein angiography, which may show the pathognomonic multifocal fluorescence. Gass plaques are frequently present and reflect endothelial damage. Brain biopsy shows microinfarction to be the basic pathology, but more recent pathological studies have shown endothelial changes that are typical for an antiendothelial cell injury syndrome. Elevated levels of Factor VIII and von Willebrand Factor Antigen reflect the endothelial perturbation. Despite extensive evaluations, a procoagulant state has never been demonstrated. SS is an autoimmune endotheliopathy that requires treatment with immunosuppressants: steroids, cyclophosphamide, and intravenous immunoglobulin, usually in combination. Aspirin is a useful adjunct.

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    ABSTRACT: Das Susac-Syndrom ist eine seltene, aber wichtige Differenzialdiagnose der nicht erregerbedingten Enzephalitis bei jungen Patientinnen mit fokalen Ausfällen und magnetresonanztomographischen Veränderungen der weißen Substanz. Wir berichten über eine 36-jährige Patientin mit den Zeichen einer Enzephalopathie und einer Parese des rechten Beines, bei der sich im MRT multiple Signalstörungen in Marklager und Balken zeigten. Wenig später kam es zu einer Innenohrschwerhörigkeit rechts, ophthalmoskopisch fanden sich Astverschlüsse von Netzhautarterien, sodass die Diagnose einer retinokochleozerebralen Vaskulopathie oder Susac-Syndrom gestellt wurde. Die Immuntherapie musste bei wiederholten Verschlechterungen nach Steroidreduktion immer weiter eskaliert werden. Schließlich gelang eine Kontrolle der Krankheitsaktivität durch 4-wöchige, hochdosierte Cyclophosphamidgaben. Ausgehend von klinischen und histologischen Gemeinsamkeiten mit der juvenilen Dermatomyositis (JDM) sind vor kurzem Therapieempfehlungen zum Susac-Syndrom erschienen, die sich an denen für die JDM orientieren. Wir diskutieren diese Empfehlungen vor dem Hintergrund des vorgestellten Falles.
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    ABSTRACT: Susac syndrome is an autoimmune microangiopathy affecting the brain, retina and inner ear (cochlea and semicircular canals), leading to encephalopathy, branch retinal artery occlusions (BRAOs) and asymmetric neurosensory hearing loss, respectively. The natural history and long-term prognosis are variable as the disease has been shown to be monophasic and self-limiting, polycyclic or chronic continuous. We describe a 35-year-old woman who presented with a sudden hearing loss in the left ear in the 37th week of her second pregnancy. She subsequently developed BRAO in the right eye 2.5 months after having given birth. MRI findings included round lesions in the corpus callosum which are pathognomonic for Susac syndrome. Previous patient records documented encephalopathy, sudden deafness of the right ear and visual field defects in the left eye at the age of 12, followed by permanent hearing and visual defects. We expand on the variability in the course of Susac syndrome as recurrence may occur after as long as 23 years. Cases of monophasic self-limiting Susac syndrome may in fact turn polycyclic with an interval of more than 2 decades between the bouts of the disease. In these cases, suspecting the development of exacerbation early is important in order to start the treatment promptly.
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    ABSTRACT: Susac's syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated endotheliopathy. Because of its rarity and some similarities to other common neurological conditions such as multiple sclerosis and acute disseminated encephalomyelitis, it is often misdiagnosed and therefore mistreated. To the best of our knowledge, there is only one case report from our country with this diagnosis. Here, we have a short discussion on this issue to introduce it to our colleagues and remind it as a differential diagnosis in patients with unexplained encephalopathy.
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