Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report.

摘要: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1–3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis. Here we report an unusual presentation of TRAPS a 7 month old girl who presented only persistent fever. She was initially diagnosed incomplete Kawasaki Disease received IVIG infliximab; however, her fevers quickly recurred. Subsequent testing revealed urinary tract infection, but she did not improve despite appropriate therapy. As continued, developed significant abdominal distension imaging concerning for appendicitis, followed by hyperthermia hemodynamic instability. Given protracted clinical course maternal history poorly defined inflammatory condition, disease considered. Therapy anakinra initiated, resulting rapid resolution normalization markers. found to have previously unreported mutation, Thr90Pro, TNFRSF1A gene associated TRAPS. This novel mutation also confirmed patient’s mother uncle. reviews severe case infancy gene, emphasizes that should be considered differential infants unknown origin.