title: Encephalopathic Susac's Syndrome associated with livedo racemosa in a young woman before the completion of family planning.
abstract: BACKGROUND
  Susac's Syndrome (SS) consists of the triad of encephalopathy, branch retinal artery occlusions (BRAO) and hearing loss (HL). Histopathologically, SS is characterised by a microangiopathy, and some observations suggest that an immune-mediated damage of endothelial cells might play a role. These findings also implicate a similarity between SS and other autoimmune diseases, most notably juvenile dermatomyositis (JDM). However, SS and JDM are commonly thought to affect distinct and non-overlapping sets of organs, and it is currently not clear how these specificities arise. Moreover, in the absence of clinical trials, some authors suggest that therapeutic approaches in SS should rely on the model of other autoimmune diseases such as JDM.
  
  
  METHODS
  Here, we report a case of SS in a 32-year-old pregnant woman. She initially was admitted to the hospital with subacute severe encephalopathy and multifocal neurologic signs. As cranial magnetic resonance imaging (MRI) revealed multifocal white matter lesions including the corpus callosum, erroneously a diagnosis of multiple 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 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.
authors.affiliation: Department of Neurology and Hertie Institute for Clinical Brain Research, Hoppe-Seyler-Str, 3, 72076 Tübingen, Germany. maik.engeholm@uni-tuebingen.de.
authors.forename: Maik
authors.initials: M
authors.lastname: Engeholm
authors.forename: Beate
authors.initials: B
authors.lastname: Leo-Kottler
authors.forename: Hansjörg
authors.initials: H
authors.lastname: Rempp
authors.forename: Tobias
authors.initials: T
authors.lastname: Lindig
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Ilka
authors.initials: I
authors.lastname: Kleffner
authors.forename: Melanie
authors.initials: M
authors.lastname: Henes
authors.forename: Marcel
authors.initials: M
authors.lastname: Dihné
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003520:Cyclophosphamide / Q000627:therapeutic use; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D054068:Livedo Reticularis / Q000150:complications* / Q000188:drug therapy; D008279:Magnetic Resonance Imaging; D008775:Methylprednisolone / Q000627:therapeutic use; D011247:Pregnancy; D011856:Radiographic Image Enhancement; D055955:Susac Syndrome / Q000150:complications* / Q000188:drug therapy / Q000473:pathology
chemical_list: D000893:Anti-Inflammatory Agents; D007166:Immunosuppressive Agents; D003520:Cyclophosphamide; D008775:Methylprednisolone