Is it a secondary cause of vasculitis or a mimic? A case of retinal vasculopathy with cerebral leukoencephalopathy

Abstract

Central nervous system involvement in vasculitis disorders, either primary or secondary, is a heterogeneous and challenging area in rheumatology clinical in terms of both diagnostics and therapeutics. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, difficult-to-diagnose, and ill-defined clinical entity caused by mutations at the TREX1 gene without effective treatment options. We hereby present a 50-year-old male patient with non-alcoholic fatty liver disease, hypertension, bilateral type III macular telangiectasia, and stage II chronic kidney disease with mild proteinuria presenting to the rheumatology clinic with various neurological symptoms accompanied by multiple contrast-enhancing cerebral lesions on magnetic resonance imaging. Even though RVCL-S is not an inflammatory vasculopathy, our patient has partially responded to high-dose corticosteroid and cyclophosphamide in terms of clinical status and radiological evaluation. This case report not only highlights the importance of consideration of RVCL-S in the differential diagnosis of central nervous system vasculitis-like disorders but also emphasises the potential use of certain immunosuppressive medications in the therapeutic perspective.