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Encephalopathy, visual disturbance and hearing loss—recognizing the symptoms of Susac syndrome

Abstract

Background. A 23 year-old female presented to a neurology department with a 3 year history of recurrent episodes involving hearing loss, encephalopathy, focal neurological deficits, and visual field deficits. In the 3 years before presentation, the patient had been treated with methylprednisolone for suspected acute demyelinating encephalomyelitis and peripheral otogenic dysfunction from which she made a complete recovery, and for a visual defect in both eyes caused by bilateral branch retinal arterial occlusion, from which she partially improved and commenced long-term treatment with acetylsalicylic acid.

Investigations. Detailed history, clinical examination, extensive laboratory work-up, cerebrospinal fluid analysis, cerebral and spinal MRI, periventricular single-voxel 1H magnetic resonance spectroscopy, retinal fluorescence angiography, optical coherence tomography, audiometry, neurophysiological work-up (EEG, evoked potentials).

Diagnosis. Susac syndrome, characterized by a combination of encephalopathy, branch retinal artery occlusions, and hearing loss.

Management. Long-term immunosuppressive treatment with azathioprine (150 mg/day) and prednisolone (10 mg/day), and inhibition of thrombocyte function with acetylsalicylic acid (100 mg/day).

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Figure 1: Axial T2-weighted MRI in a patient with Susac syndrome.
Figure 2: Retinal fluorescence angiography in a patient with Susac syndrome.

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Acknowledgements

We thank Alistair Noon and Lena Mann for helpful comments on the manuscript as native English speakers. Frauke Zipp received grants from the Deutsche Forschungsgemeinschaft (DFG, SFB 650, SFB-TRR 43). This work was supported by the DFG (Exc 257).

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Correspondence to Frauke Zipp.

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Dörr, J., Radbruch, H., Bock, M. et al. Encephalopathy, visual disturbance and hearing loss—recognizing the symptoms of Susac syndrome. Nat Rev Neurol 5, 683–688 (2009). https://doi.org/10.1038/nrneurol.2009.176

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