Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation?

Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S) is a rare, autosomal dominant condition caused by mutations in the TREX1 gene.1 2 Typically, vascular retinopathy becomes apparent in the fourth or fifth decade, soon followed by clinical manifestations of progressive focal and global brain disease. Brain imaging reveals ring-enhancing mass lesions and/or punctate hyperintense white matter lesions with or without nodular enhancement, often in combination with focal white matter calcifications. Many patients will also have, or develop, liver and kidney dysfunction, anaemia with or without gastrointestinal bleeding, hypertension, migraine and mild Raynaud's phenomenon.2 We describe two brothers with genetically proven RVCL-S due to a mutation in the TREX1 gene (3688_3689insG) encoding the mutant protein V235fs. The clinical history, radiology, treatment and outcomes for the two brothers are presented in the online and as figure S1 in the online .

In Case 1,...

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2FE7bM6