Rituximab in the treatment of Susac’s syndrome: Report of a case

Abstract

Significance Susac’s syndrome is a rare retinocochleocerebral immune-mediated endotheliopathy and clinically manifests as a pathognomonic triad of encephalopathy, hearing loss, and branch retinal artery occlusion. This triad is rarely present at symptom onset, thus, it is often initially misdiagnosed. To date, Susac’s syndrome has persisted as an elusive entity and there are numerous treatment regimens proposed with varying effectiveness mainly based on case series. Purpose To report our 12-month follow-up experience in the treatment of Susac’s syndrome with rituximab. Case report A 25-year-old female presenting with headache, paresthesias, tinnitus, peripheral vertigo, and a branch retinal artery occlusion. The patient had a personal history of anxiety-depressive disorder. After discarding other infectious/autoimmune conditions and magnetic resonance imaging suggestive findings of Susac’s syndrome, we observed a prompt response to the combination of intravenous immunoglobulin, corticosteroids, and rituximab. Conclusion A standard treatment paradigm is lacking in Susac’s syndrome as randomized controlled trials do not exist. There are no definitive scores to predict its outcome, and early diagnosis is important as the organs involved can easily become irreversibly damaged. Thus, patients with Susac’s syndrome must be treated promptly and aggressively. Our report highlights the possibility of positive long-term prognosis with an early use of rituximab. However, a systematic therapeutic approach on the basis of controlled trials is mandatory to develop a consensus.

Ectopic lymphoid follicles in progressive multiple sclerosis: From patients to animal models

“…Drugs targeting B‐cell epitopes are not used exclusively in the treatment of MS. For instance, the use of rituximab has been reported to ameliorate symptoms of patients with Susac's syndrome [ 18 , 19 ], which is a rare cerebral microangiopathy, mainly driven by cytotoxic CD8 + T cells causing an endotheliopathy, which leads to a progressive demyelination of the CNS white matter with subsequent neurological deficits [ 20 ]. Another disease, which is as well characterized by high numbers of intracerebral CD8 + T cells is Rasmussen's encephalitis, causing a severe inflammatory response strictly limited to one cerebral hemisphere [ 21 ].…”

Hearing restoration and the stria vascularis: evidence for the role of the immune system in hearing restoration

“…There have been many immunomodulatory agents that have been investigated for off-label use for immune-mediated hearing loss. Inhibitors of IL-1 (anakinra, canakinumab, rilonacept) [36,38,70,82 ▪ ,83,84 ▪ ,85,86], IL-6 (tocilizumab) [87,88], TNF-α (infliximab, etanercept, golimumab, adalimumab) [34,42,67,69,74 ▪ ,88,89 ▪ ,90 ▪ ,91] and B-cells (rituximab) [34,67,69,88,93,94] have demonstrated efficacy. In addition, JAK inhibitors (tofacitinib) have recently been utilized in the treatment of autoimmune and autoinflammatory disorders [95 ▪ ].…”

“…There have been many immunomodulatory agents that have been investigated for off-label use for immune-mediated hearing loss. Inhibitors of IL-1 (anakinra, canakinumab, rilonacept) [36,38,70,82 & ,83,84 & ,85,86], IL-6 (tocilizumab) [87,88], TNF-a (infliximab, etanercept, golimumab, adalimumab) [34,42,67,69,74 ,91] and B-cells (rituximab) [34,67,69,88,93,94] ]. This review highlights additional therapeutic targets with the potential for improved specificity and fewer side effects (Table 3).…”

Case report: Susac syndrome—two ends of the spectrum, single center case reports and review of the literature

“…Successful use of subcutaneous immunoglobulin instead of regular intravenous infusions has also been described (41). In patients with severe and extremely severe CNS-predominant SuS, early addition of rituximab (as an initiation 2 × 1 g with a gap of 14 days, then repeated after 4-6 and 12 months) is strongly recommended (9,12,42). The clinical experience confirms that it is efficient, although only few cases were reported (8,14,27,(42)(43)(44)(45)(46).…”