title: Intra-abdominal abscess in a patient with tumour necrosis factor receptor-associated periodic syndrome.
abstract: Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disorder characterized by periodic attacks of fever and inflammation, due to mutations in the gene coding for the TNF type I receptor (TNFRSF1A). A 16-year-old patient with the diagnosis of TRAPS was admitted to hospital because of fever and abdominal pain. Initially, the symptoms were interpreted as manifestations of another TRAPS attack, but the patient's condition worsened, despite treatment with corticosteroids and antibiotics. A repeated computer tomography revealed an intra-abdominal abscess, which necessitated urgent surgical intervention. This case stresses the importance of differential diagnostic vigilance when dealing with patients with rare genetic diseases.
authors.affiliation: Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.
authors.forename: S
authors.initials: S
authors.lastname: Stjernberg-Salmela
authors.forename: A
authors.initials: A
authors.lastname: Kivisaari
authors.forename: P
authors.initials: P
authors.lastname: Puolakkainen
authors.forename: M
authors.initials: M
authors.lastname: Färkkilä
authors.forename: E
authors.initials: E
authors.lastname: Kemppainen
authors.forename: A
authors.initials: A
authors.lastname: Ranki
authors.forename: T
authors.initials: T
authors.lastname: Pettersson
mesh_terms: D018784:Abdominal Abscess / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism; D000293:Adolescent; D003937:Diagnosis, Differential; D004630:Emergencies; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism; D005260:Female; D006801:Humans; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics* / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D014409:Tumor Necrosis Factor-alpha / Q000378:metabolism
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C439524:TNF protein, human; D014409:Tumor Necrosis Factor-alpha