[Aggressive immunotherapy in Susac's syndrome]

Susac's syndrome is a rare but important differential diagnosis of aseptic encephalitis of young women with focal neurological deficits and white matter lesions on cerebral MRI. We report on a previously healthy 36-year-old woman who presented with encephalopathy, central weakness of her right leg and multiple white matter lesions on MRI. Shortly thereafter, inner ear deafness developed and funduscopy revealed occlusions of branch retinal arteries. A diagnosis of retino-cochlear-cerebral vasculopathy or Susac's syndrome was established and steroid-based immunotherapy with high-dose corticosteroids was initiated. Steroid reduction led to repeated clinical worsening, so that immunotherapy was sequentially escalated. Finally, high-dose cyclophosphamide every 4 weeks led to sufficient control of disease activity. Recent publications have argued for an early and aggressive immunosuppression in Susac's syndrome based on clinical and histological similarities with juvenile dermatomyositis, where such a regimen has already been established. We report on these treatment guidelines with respect to the current literature and the case presented.