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

BMC Pediatrics

Case Report

Lori Broderick¹  Suhas M. Radhakrishna¹  Amy Grimm² 

[1] Department of Pediatrics, Division of Allergy, Immunology, Rheumatology and Kawasaki Disease, University of California San Diego and Rady Children’s Hospital, 9500 Gilman Drive #0760, La Jolla, 92093, San Diego, CA, USA;Department of Pediatrics, University of California San Diego and Rady Children’s Hospital, San Diego, CA, USA;Allegro Pediatrics, Bellevue, WA, USA;

关键词: Autoinflammatory disease;    Periodic fever syndrome;    Tumor necrosis factor receptor associated periodic syndrome;    Kawasaki disease;    Anakinra;    Case report;   

DOI  :  10.1186/s12887-017-0856-2

 received in 2016-05-21, accepted in 2017-04-01,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundTumor 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.Case presentationHere we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred. Subsequent testing revealed a urinary tract infection, but she did not improve despite appropriate therapy. As fever continued, she developed significant abdominal distension with imaging concerning for appendicitis, followed by hyperthermia and hemodynamic instability. Given her protracted clinical course and maternal history of a poorly defined inflammatory condition, an autoinflammatory disease was considered. Therapy with anakinra was initiated, resulting in rapid resolution of fever and normalization of inflammatory markers. She was found to have a previously unreported mutation, Thr90Pro, in the TNFRSF1A gene associated with TRAPS. This novel mutation was also confirmed in the patient’s mother and maternal uncle.ConclusionsThis report reviews a severe case of TRAPS in infancy associated with a novel mutation, Thr90Pro, in the TNFRSF1A gene, and emphasizes that autoinflammatory disease should be considered in the differential of infants with fever of unknown origin.

【 授权许可】

CC BY   
© The Author(s). 2017