Pediatric Sneddon syndrome presenting with early-onset liver fibrosis: a rare case report.

Abstract

Sneddon syndrome (SS) is a rare neurocutaneous disorder consisting of livedo racemosa (LR) and cerebrovascular disease with an incidence of 4 per 1 000 000 annually. It may be idiopathic or associated with autoimmune or genetic factors, including deficiency of adenosine deaminase 2 (DADA2). We describe a 17-month-old girl with recurrent fevers, hepatosplenomegaly, LR, and progressive liver fibrosis. A pathogenic ADA2 mutation and LDLR mutation associated with familial hypercholesterolemia (FH) were detected by genetic testing. Despite corticosteroids, etanercept, and immunosuppressants, she continued to deteriorate and developed portal vein thrombosis and increasing hepatic dysfunction. DADA2 is well described to cause systemic vasculopathy, but its association with liver fibrosis is still unclear. Our case highlights a potential association between DADA2 and LDLR mutation leading to hepatic injury, extending the broad spectrum of SS-related complications. Further research is needed to understand the role of these genes and their mutations in the systemic and hepatic manifestations of SS.