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.

journal_name

J Intern Med

authors

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

doi

10.1111/j.1365-2796.2005.01601.x

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

209-13

issue

2

eissn

0954-6820

issn

1365-2796

pii

JIM1601

journal_volume

259

pub_type

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