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
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