Abstract
Susac’s syndrome (SuS) is a rare, probably autoimmune endotheliopathy of the
central nervous system, retina and inner ear. It is characterized by a clinical
triad of encephalopathy, branch retinal artery occlusions (BRAOs) and
sensorineural hearing loss. To date, more than 300 cases of SuS have been
reported in the literature. However, SuS remains an under- and misdiagnosed
entity in the clinical setting. This report presents an exemplary case of a
patient, who was initially misdiagnosed with relapsing-remitting multiple
sclerosis. At initial presentation, the patient did not demonstrate the complete
clinical triad, and the interval between symptom onset and diagnosis was 4
months. Typical diagnostic features, which enabled the diagnosis of SuS were: a)
MRI findings with T2-hyperintense snowball-like lesions of the corpus callosum
and subcortical white matter and hyperintense lesions in diffusionweighted
imaging with reduced apparent diffusion coefficient; b) BRAOs and vessel wall
hyperfluorescence in fluorescein angiography and a significant thickness
reduction of the inner retinal layers in optical coherence tomography; c)
bilateral sensorineural hearing loss. The patient was aggressively treated with
cyclophosphamide, rituximab, glucocorticoids and acetylsalicylic acid with a
good response to therapy. This report draws attention to the need to take SuS
into consideration in the differential diagnosis at the interface of
neurological, psychiatric, ophthalmological and otorhinolaryngological
disorders. As SuS may result in severe and persistent neurological deficits, an
interdisciplinary collaboration is fundamental for the prompt diagnosis and
initiation of adequate immunosuppressive treatment.
