Document Detail


Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.
MedLine Citation:
PMID:  18690165     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Tim Savage; Brendan G Loftus; Vincent Tormey; Michael F McDermott; Edina Moylett
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases     Volume:  14     ISSN:  1536-7355     ISO Abbreviation:  J Clin Rheumatol     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-08     Completed Date:  2009-04-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9518034     Medline TA:  J Clin Rheumatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  342-5     Citation Subset:  IM    
Affiliation:
Academic Department of Paediatrics, National University of Ireland, Galway, Ireland.
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MeSH Terms
Descriptor/Qualifier:
Exanthema / diagnosis,  etiology
Familial Mediterranean Fever / complications,  diagnosis*,  genetics*
Fever / diagnosis,  etiology
Humans
Infant, Newborn
Male
Mutation, Missense / genetics*
Pedigree
Receptors, Tumor Necrosis Factor, Type I / genetics*
Chemical
Reg. No./Substance:
0/Receptors, Tumor Necrosis Factor, Type I; 0/TNFRSF1A protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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