| Literature DB >> 18690165 |
Tim Savage1, Brendan G Loftus, Vincent Tormey, Michael F McDermott, Edina Moylett.
Abstract
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.Entities:
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Year: 2008 PMID: 18690165 DOI: 10.1097/RHU.0b013e31817d109b
Source DB: PubMed Journal: J Clin Rheumatol ISSN: 1076-1608 Impact factor: 3.517