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Volume 05
Neonatal and Pediatric Medicine
ISSN: 2572-4983
World Pediatrics 2019
December 04-05, 2019
December 04-05, 2019 | Barcelona, Spain
32
nd
World Pediatrics Conference
Effectiveness of surgical treatment in patient with PFAPA and congenital syndrome
Natalia Antonova
Tallinn Children´s Hospital, Estonia
T
he pathogenesis of the pediatric disorder periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis
(PFAPA) syndrome is unknown. It is regarded as an autoinflammatory process. Disease onset is usually before
the age of five and generally resolves before puberty with no consequences for the patient. Children are asymptomatic
between episodes and show normal growth. No specific diagnostic test for PFAPA is currently available. Syndrome
has overlapping symptoms with other periodic fever syndromes with a known genetic cause. Genomic analysis
of familial cases by genome-wide linkage analysis and whole-exome sequencing did not reveal rare variants in a
single, common gene. In addition, genetic variants that are known to cause other autoinflammatory syndromes have
been found in PFAPA patients, but the impact of these genetic variants in PFAPA syndrome is still unknown. In
2-year Caucasian/Azerbaijan girl demonstrated repeated fever episodes with high levels (90-200mg/L) of C-reactive
protein (CRP) since 6 months. She was observed regularly because of microcephalus, slight developmental delay and
growth retardation, muscle hypotonus and dysmorphic phenotype (broad forehead, hypertelorism, micrognathia
and retrognathia, fluffy eyebrows, long and tight eyelashes, long filtrum, narrow lips). On genetic consultation, she
was diagnosed with 7p22 microdeletions. During a period of January-October 2018, she was hospitalized 6 times
with high fever, cervical/adenitis and sore throat (3 times with aphthous pharyngitis). Different laboratory tests
and instrumental investigations were performed and were normal: abdomen ultrasound, chest X-ray, EKG and
EHHOKG, ANA, HIV, Borreliosis serology and Quantiferron test, urine test and urine culture. Cervical ultrasound
revealed increased lymphoid nodules with normal structure. In a period of January-July of 2018, she received 4
antibiotic courses because of high CRP levels and pharyngitis.
A blood test revealed no neutropenia, sedimentation rate was always increased up to 20-40mm/t, procalcitonin
level and blood culture repeatedly negatives. Brain MRI with spectroscopy was performed to exclude intracranial
pathology because of congenital problems. ENT repeated consultations excluded otitis media, but adenoid
hypertrophy was considered. PFAPA was suspected because of typical clinical symptoms (repeated episodes of
fever with aphthous pharyngitis, cervical/adenitis and high CRP levels, absence of neutropenia). Prednisolone
treatment 1mg/kg per os was used twice with excellent effect. Adenotomy with tonsillectomy was performed in
October 2018. After this treatment in a period of November 2018- May 2019 the patient was ill 4 times with no
high fever (gastroenteritis, conjunctivitis, rhinopharyngitis and varicella with otitis media) and just once needed
antibiotic treatment. Sequencing of genes was performed to exclude MEFV, MVK, TNFRSF1A, IL1RN and other
gene abnormalities, using Illumina TruSight One expanded panel (6700 genes). No monogenic fever syndrome was
revealed.
Recent Publications
1. Artyushenko NK, Influence of connective tissue dysplasia on hemodynamics in a maxillary artery and mucosal
vessels in children with anomalies and deformations of maxillofacial area.
2. Artyushenko, Antonova (2011) New technologies in stomatology, International conference of maxillofacial
surgeons and stomatologists. Page 28-29.
3. Antonova N.S (2011) Features of clinical manifestations of CTD in children with congenital anomalies and
deformations of maxillofacial area/N.S. Antonova/Materials XVI of the International conference of maxillofacial
surgeons and stomatologists "New technologies in stomatology" Page 26-27.
4. Antonova N.S (2012) Features of treatment of children with congenital anomalies and acquired deformations of
maxillofacial area and accompanying connective tissue dysplasia, Page 86-87.
Natalia Antonova, Neonat Pediatr Med 2019, Volume: 05