Susac Syndrome. Diagnostic and therapeutic challenges

Abstract

Introduction: Susac syndrome (SS) is a rare autoimmune microangiopathy that manifests with encephalopathy, ocular vasculitis, and hearing impairment. Early detection is key to preventing irreversible sequelae.

Case report: A 28-year-old woman with no prior medical history presented with a 3-week history of tinnitus associated with bilateral hearing loss, throbbing headache, nausea, vomiting, and photophobia. Ten days prior, she also experienced decreased visual acuity (VA). Ophthalmological examination revealed 360° occlusive vasculitis, macular edema, peripapillary hemorrhages, and papilledema. Audiometry was normal, with tinnitus classified as grade V. Cerebrospinal fluid analysis and immunological/serological studies were normal. Brain and spinal cord MRI with contrast showed no abnormalities. She received intravenous methylprednisolone and intravenous cyclophosphamide. Subsequently, while on maintenance therapy with azathioprine, the patient experienced a relapse of the ocular and auditory symptoms. She showed improvement with corticosteroids, rituximab, and mycophenolate.

Conclusion: Susac syndrome should be included in the differential diagnosis of young women presenting with unusual neurological, visual, and auditory symptoms. Early identification and timely initiation of intensive immunosuppressive therapy are essential to optimize the prognosis and prevent permanent sequelae.