We report the case of a 14-year-old girl who was born after normal pregnancy and childbirth, with a normal weight of 3,200 kg. From her family history she has only interest that her mother had many episodes of pharyngitis.
Shortly before the month of life, she began with repeated episodes of high fever associated with acute pharyngitis exudative, abdominal pain, mild diarrhea and otalgia.
He never associated arthritis or rashes.
The fever lasted between three and six days, did not follow a clear periodicity, but was repeated within 15 days to 3 months at most.
Among the episodes he was totally asymptomatic and his height development was normal, although in lower percentiles.
She had no other medical problems, except chickenpox at six months, one of those who required drainage at three years of age and one admission for acute gastroenteritis (Campylobacter sp.) at four years,
In the first years of his life he received several cycles of antibiotic treatment due to persistent and high fever (sometimes above 40 °C).
Laboratory tests, occasionally ordered in these febrile periods, revealed leukocytosis and elevated C-reactive protein (>80 mg/dl).
antipyretic and antibiotic treatment was prescribed, and due to the repeated negativity of their pharyngeal swabs (only in a couple of occasions was positive for S. pyogenes and a family opted for penicillin).
Parents learned to manage these febrile episodes at home and stopped consulting for this reason.
At the child's 11 years of age, the parents come back for consultation because they worry that the "angina" pictures still persist.
Your pediatrician then raises the possibility that it is a PFAPA syndrome (periodic fever, aftous stoma, pharyngitis and cervical adenitis).
The child spectacularly resolved fever after a single dose of oral corticosteroids and met all clinical criteria of Thomas and Padeh to confirm the diagnosis of PFAPA1,2.
Because it is recognized that these clinical criteria cannot differentiate similar cases of recurrent fever corresponding to other autoinflammatory diseases, the Gaslini3 scale was applied.
The result was "high risk" (score2), so a genetic study was requested.
Exons 2 and 10 of the MEFV gene were analyzed and homozygosis for the R 202 Q genetic variant was found. He was then referred to the Pediatric Rheumatology Unit of the mediterranean hospital where he was definitely diagnosed with fever.
Shortly after starting treatment with colchicine (0.5 mg every 12 hours), the girl with constipation has managed to control the inflammatory episodes and her quality of life is very good.
