RT Book, Section A1 Akoghlanian, Shoghik A1 Zeft, Andrew A2 Usatine, Richard P. A2 Sabella, Camille A2 Smith, Mindy Ann A2 Mayeaux, E.J. A2 Chumley, Heidi S. A2 Appachi, Elumalai SR Print(0) ID 1114878306 T1 Periodic Fever Syndromes T2 The Color Atlas of Pediatrics YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-176701-9 LK accesspediatrics.mhmedical.com/content.aspx?aid=1114878306 RD 2024/03/28 AB A 6-year-old Caucasian boy is seen by his pediatrician for a 14-month history of fever episodes lasting up to 10 days. During these episodes, he develops a red rash, nonspecific joint pains, and abdominal pain variably accompanied by diarrhea. Between episodes he is asymptomatic. He has had serial evaluations in the primary care clinic and has been admitted to a children’s hospital for work up to rule out potential infectious, gastrointestinal, and oncologic etiologies. The work-up is only positive for nonspecific elevations in inflammatory markers and a mild leukocytosis. The pediatrician suspects a periodic fever syndrome and refers the child to a pediatric rheumatologist. During an episode of fever, the child is evaluated by the pediatric rheumatologist. The only clinical finding is a rash on the back and trunk (Figure 176-1). Work-up for a periodic fever syndrome reveals a heterozygous missense mutation in the gene encoding the cell surface receptor for tumor necrosis factor (TNF) TNFRSF1A, and the diagnosis of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is made. The boy is treated with etanercept, a soluble TNF-α receptor fusion protein, after which the frequency and severity of his episodes lessen.