Abstract
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomic-dominant periodic syndrome associated with mutations in the extracellular domain of the 55 kDa TNF receptor. Clinically, episodes of severe myalgia, arthralgia/arthritis, sterile peritonitis, scrotal inflammation, serositis, migratory rash, conjunctivitis, and recurrent fever are characteristic. We describe a 9-year-old African American boy with the P46L mutation of the TNF receptor who presented with 2 previously unrecognized manifestations: sacroiliitis and myocardiopathy, both showing a reversible course.
MeSH terms
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Arthritis / diagnosis*
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Arthritis / drug therapy
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Arthritis / genetics
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Child
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Familial Mediterranean Fever / diagnosis*
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Familial Mediterranean Fever / drug therapy
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Familial Mediterranean Fever / genetics
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Glucocorticoids / therapeutic use
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Heterozygote
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Humans
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Indomethacin / therapeutic use
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Male
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Methylprednisolone / therapeutic use
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Mutation / genetics
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Myocarditis / diagnosis*
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Myocarditis / drug therapy
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Myocarditis / genetics
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Radionuclide Imaging
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Receptors, Tumor Necrosis Factor, Type I / genetics*
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Recovery of Function
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Sacroiliac Joint / diagnostic imaging
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Sacroiliac Joint / pathology*
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Tomography, X-Ray Computed
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Treatment Outcome
Substances
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Glucocorticoids
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Receptors, Tumor Necrosis Factor, Type I
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Methylprednisolone
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Indomethacin