The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 6
A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype
Ezgi Deniz Batu 1 ,Hafize Emine Sönmez 1 ,Yelda Bilginer 1 ,Seza Özen 1
1 Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey DOI : 10.24953/turkjped.2018.06.014 Batu ED, Sönmez HE, Bilginer Y, Özen S. A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype. Turk J Pediatr 2018; 60: 726-728. Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old boy heterozygous for R92Q mutation in TNFRSF1A gene expressing a periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype. However, some of his symptoms such as myalgia and the long duration of fever attacks were not typical for PFAPA. He was treated with methylprednisolone during the attacks and also responded to colchicine. The family history revealed that his grandfather, mother, and uncle suffered from similar attacks, and interestingly all of them responded to tonsillectomy. PFAPA-like features have already been reported in patients with the R92Q mutation. However, this case is interesting with the response to colchicine treatment and response to tonsillectomy in his relatives. Keywords : periodic fever with aphthous stomatitis, pharyngitis, and adenitis, tumor necrosis factor receptor associated periodic syndrome, R92Q mutation
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