These findings also implicate a similarity between SS and other autoimmune diseases, most notably juvenile dermatomyositis (JDM)

These findings also implicate a similarity between SS and other autoimmune diseases, most notably juvenile dermatomyositis (JDM). sclerosis (MS) was made, and intravenous methylprednisolone (IVMP) therapy was initiated. A few days later, an exanthema appeared on the trunk and extremities, which was diagnosed as livedo racemosa (LR). Several weeks later, the patient was readmitted to the clinic with an obscuration of her left visual hemifield and a bilateral HL. Ophthalmologic examination revealed extensive ischemic damage to both retinae. Now the correct diagnosis of SS was established, based on the above triad of clinical symptoms in conjunction with typical MRI and fundoscopic findings. When SS was diagnosed, the standard therapy with intravenous cyclophosphamide (IVCTX) was not instituted because of a significant risk of permanent infertility. Instead, sustained control of disease activity could be achieved with a therapeutic regime combining prednisolone, intravenous immunoglobulins (IVIG), mycophenylate mofetil (MM), and methotrexate (MTX). Conclusions An association with LR has only been described in very few cases of SS Pemetrexed (Alimta) before and further underlines the pathogenetic relationship between SS and other autoimmune diseases such as JDM. In young women with SS and the desire for a child the combination of MM and MTX may represent a reasonable alternative to IVCTX. Background SS consists of Pemetrexed (Alimta) the triad of encephalopathy, BRAO and HL [1,2]. The clinical presentation is highly variable. In particular, any of the above symptoms can occur first and dominate the clinical picture [2-4]. Accordingly, it has been proposed to Pemetrexed (Alimta) distinguish between an encephalopathic form of SS and a recurrent BRAO subset [5]. Between the two, the former is typically more severe and shows a monophasic clinical course over a period of usually no Efnb2 longer than two years, during which disease activity may fluctuate widely. In MRI SS is associated with a number of rather specific signs including snowball- and spoke-like lesions on sagittal images, which correspond to microinfarcts in the centre of the corpus callosum and are deemed pathognomonic of SS [5,6]. More recently, MRI at 7 Tesla has been shown to permit a better differentiation between white matter lesions in SS and those in MS [7]. Histopathologically, SS is associated with a microangiopathy of the brain, retina and cochlea [1,3,4]. Although a detailed pathomechanism remains to be elucidated, antibody-mediated damage of endothelial cells is discussed as an important step. This includes the demonstration of activated complement components in the capillaries of SS brain biopsies [8,9]. Moreover, anti-endothelial cell antibodies (AECA) of the IgG variety have been described in the serum of patients with SS [9,10]. Although the exact specificity of these antibodies is still unknown, they have been shown to recognize a distinctive protein of 50 kDa in Western blotting which is not bound by AECA of other autoimmune diseases, including dermatomyositis (DM) [9]. More generally, the notion of an immunopathogenesis of SS is supported by the typical inflammatory constellation in cerebrospinal fluid (CSF) studies and the response to immunosuppressive treatment. Indeed, SS is in principle amenable to immunosuppressive therapy, although in some cases disease activity has proven difficult to control [8]. Due to the absence of clinical trials, therapeutic approaches are largely based on anecdotal reports and on models of other autoimmune diseases, most notably JDM. Therapeutic regimes usually rely on a combination of corticosteroids and IVIG over an extended period of time (minimum 6 months). In more severe cases, an additional immunosuppressive therapy is recommended, preferably in the form of IVCTX pulse therapy. The combination of MM and MTX is considered an alternative, but is usually reserved for cases with less threatening disease [8]. Here, we report a case of SS that initially presented with acute encephalopathy and LR. This at first directed diagnostic considerations towards systemic lupus erythematosus (SLE) or a primary vasculitis syndrome, and the correct diagnosis of SS was established only several weeks later when the full clinical triad became manifest. Because of a risk of permanent infertility the standard immunosuppressive therapy with IVCTX was not given, but sustained control of disease activity was achieved with a Pemetrexed (Alimta) combination of IVIG, MM and MTX. Our case illustrates that SS should always be considered as a differential diagnosis in a patient with acute encephalopathy, especially in the presence of additional skin manifestations, and that a therapeutic regime without CTX may be effective even in some patients with an aggressive course of the disease. Case presentation A 32-year-old woman of European.