J Intern Med. 2006 Feb;259(2):209-13.

Intra-abdominal abscess in a patient with tumour necrosis factor receptor-associated periodic syndrome.

Stjernberg-Salmela S, Kivisaari A, Puolakkainen P, Färkkilä M, Kemppainen E, Ranki A, Pettersson T.

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Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.

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.

PMID:: 16420550; [PubMed - indexed for MEDLINE]

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