title: Potential benefits of early aggressive immunotherapy in Susac syndrome.
abstract: Susac syndrome is a rare vasculopathy of unknown aetiology, affecting prominently young women and electively targeting brain (encephalopathy), retina (visual field defects), and cochlea (hearing loss), of which optimal treatment has yet to be established. We report clinical, CSF and MRI features together with the long-term outcome in a monocentric series of eight consecutive patients with unusual sex ratio (5 male; 3 female), to define the best diagnostic/therapeutic strategy. Six patients presented with the classical clinical triad within less than 6 months after symptoms onset; two did not suffer from sensorineural hearing loss. All but one received a treatment combining high doses of methylprednisolone and cyclophosphamide intravenously. The first two patients had very delayed diagnosis (6-4 months) resulting in severe cognitive sequelae. The third one had only mildly delayed diagnosis (2 months) with subsequent behaviour impairment and severe right hypoacousia. All three were unable to return to work. The last five patients who had early diagnosis and undelayed aggressive treatment were able to resume their professional activities.
authors.affiliation: Department of Neurology, Cliniques Universitaires St-Luc, 10 Avenue Hippocrate, 1200, Brussels, Belgium. londonfrederic@gmail.com.
authors.forename: F
authors.initials: F
authors.lastname: London
authors.affiliation: Department of Neurology, Clinique Saint-Jean, 32 Boulevard du Jardin Botanique, 1000, Brussels, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: Pothalil
authors.affiliation: Department of Radiology, Neuroradiology Section, Cliniques Universitaires St-Luc, 10 avenue Hippocrate, 1200, Brussels, Belgium.
authors.forename: T P
authors.initials: TP
authors.lastname: Duprez
authors.affiliation: Department of Neurology, Polyclinique de Louvain-la-Neuve, 5 Rue du Traité de Rome, 1348, Louvain-la-Neuve, Belgium.
authors.forename: C J M
authors.initials: CJ
authors.lastname: Sindic
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007167:Immunotherapy / Q000379:methods*; D008297:Male; D012189:Retrospective Studies; D055955:Susac Syndrome / Q000188:drug therapy* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D000893:Anti-Inflammatory Agents
keywords: Encephalopathy; Hearing loss; Immunotherapy; Retina; Vasculopathy