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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.

Authors :
Savage T
Loftus BG
Tormey V
McDermott MF
Moylett E
Source :
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases [J Clin Rheumatol] 2008 Dec; Vol. 14 (6), pp. 342-5.
Publication Year :
2008

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.

Details

Language :
English
ISSN :
1536-7355
Volume :
14
Issue :
6
Database :
MEDLINE
Journal :
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
Publication Type :
Academic Journal
Accession number :
18690165
Full Text :
https://doi.org/10.1097/RHU.0b013e31817d109b