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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.
- 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.
- Subjects :
- Exanthema diagnosis
Exanthema etiology
Familial Mediterranean Fever complications
Fever diagnosis
Fever etiology
Humans
Infant, Newborn
Male
Pedigree
Familial Mediterranean Fever diagnosis
Familial Mediterranean Fever genetics
Mutation, Missense genetics
Receptors, Tumor Necrosis Factor, Type I genetics
Subjects
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