Peer-Reviewed Journal Details
Mandatory Fields
Savage, T,Loftus, BG,Tormey, V,McDermott, MF,Moylett, E
2008
December
Jcr-Journal Of Clinical Rheumatology
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) or Familial Hibernian Fever Presentation in a Four-Day-Old Infant
Published
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Optional Fields
TNF receptor-associated periodic syndrome periodic fever etanercept TNF RECEPTOR AUTOINFLAMMATORY SYNDROMES RENAL AMYLOIDOSIS MUTATIONS TNFRSF1A HETEROGENEITY PATHOGENESIS DISEASES 12P13
14
342
345
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is one of a number of well described hereditary periodic febrile syndromes. We report a case in an infant, with a strong family history of this disorder, who presented on day-of-life 4 with high fever, irritability, diarrhea, lethargy, and raised acute phase reactants. An extensive work-up, including a full sepsis evaluation, proved negative. Symptoms resolved spontaneously. Representation with similar symptoms at 7 months of age prompted successful diagnosis after full evaluation. Subsequent genetic mutation analysis has proven positive for the T50M mutation in exon 2 of the TNFRSF1A gene. To our knowledge, this is the youngest reported age of presentation of this rare autoinflammatory disorder which should be considered even at such a young age.
DOI 10.1097/RHU.0b013e31817d109b
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