Brain Histopathology in Three Cases of Susac’s Syndrome: Implications for Lesion Pathogenesis and Treatment

Abstract

Susac’s Syndrome (SS) is the triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. While rare, it has become increasingly recognised since characteristic ‘snowball’ corpus callosum lesions were appreciated on MRI.1 We present clinical and histo pathological findings on three patients with SS. Our findings demonstrate a T-cell-mediated inflammatory contribution to lesion pathogenesis. Treatment with the tumour necrosis factor (TNF) inhibitor, infliximab was beneficial in two patients, including in one previously reported,2 and in another who failed rituximab. This report provides a histological rationale for the observed benefitofinfliximab, and suggests that infliximab should be considered as an adjunct therapy inpatients with refractory SS.