title: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant.
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.
authors.affiliation: Academic Department of Paediatrics, National University of Ireland, Galway, Ireland.
authors.forename: Tim
authors.initials: T
authors.lastname: Savage
authors.forename: Brendan G
authors.initials: BG
authors.lastname: Loftus
authors.forename: Vincent
authors.initials: V
authors.lastname: Tormey
authors.forename: Michael F
authors.initials: MF
authors.lastname: McDermott
authors.forename: Edina
authors.initials: E
authors.lastname: Moylett
mesh_terms: D005076:Exanthema / Q000175:diagnosis / Q000209:etiology; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005334:Fever / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human