Síndrome PFAPA: reporte de un caso clínico / PFAPA syndrome: a case report

El síndrome PFAPA es la entidad más frecuente dentro de los síndromes de fiebres periódicas que pueden manifestarse desde la infancia. Es un síndrome autoinflamatorio caracterizado por una disfunción en las citoquinas, de carácter autolimitado y de etiología desconocida, aunque se han reportado casos de presentación familiar; lo que sugiere la existencia de una base genética de la enfermedad. Se presenta con episodios febriles que suelen acompañarse de aftas orales, adenopatías cervicales, faringoamigdalitis y síntomas constitucionales. En los exámenes de laboratorio es frecuente encontrar elevación marcada de la proteína C reactiva, leucocitosis y aumento de IgG, IgA e IgM. El diagnóstico se realiza utilizando los criterios modificados de Thomas, que incluyen parámetros clínicos, antecedentes y diagnósticos de exclusión. Se presenta el caso de un paciente de 4 años de edad que consultó a un hospital por un cuadro febril, movimientos tónico-clónicos generalizados, desviación de la mirada, sialorrea y relajación de esfínteres. También presentó cefalea de localización frontal y odinofagia. En la cavidad oral se observaron lesiones tipo aftas, y se evidenciaron adenopatías cervicales. El paciente no respondió al manejo con antibióticos, y se observó que cumplía con los criterios de diagnóstico para síndrome PFAPA, luego de descartarse un proceso infeccioso. Se inició terapia con corticoides con respuesta favorable y se concluyó que el paciente tenía un cuadro compatible con síndrome PFAPA.

PFAPA syndrome is the most frequent illness within the syndromes of periodic fevers manifesting during childhood. It is an auto-inflammatory syndrome characterized by cytokine dysfunction, a self-limiting nature, and unknown etiology; family cases have been reported, suggesting the existence of a genetic basis for the disease. PFAPA syndrome is manifested with febrile episodes that are usually accompanied by oral aphthae, cervical adenopathy, pharyngotonsillitis and constitutional symptoms. In laboratory tests, it is common to find marked elevation of C reactive protein, leukocytosis and increased IgG, IgA and IgM levels. Diagnosis is reached by means of the modified Thomas criteria that include clinical parameters, personal and family history, and exclusion diagnoses. The case of a 4-year-old patient who visited the hospital with fever, generalized tonic-clonic seizures and sphincter relaxation is presented. The patient reported frontal headache and odynophagia. Aphthous stomatitis was observed, and cervical adenopathies were evident. The patient did not respond to antibiotic therapy, and met the diagnostic criteria for PFAPA syndrome after an infectious process was ruled out. Corticosteroid therapy was initiated with a favorable response. It was concluded that the patient had a diagnosis compatible with PFAPA syndrome

PFAPA Syndrome in a Population with Endemic Familial Mediterranean Fever.

We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.

Síndrome de PFAPA: diagnóstico y evolución post-agmidalectomía. Stadística propia / PFAPA syndrome: diagnosis and post-tonsillectomy evolution. Our own statistics / PFAPA síndrome: diagnóstico e evolução pós-amigdalectomia. Estatística própria

Introducción: el síndrome de PFAPA (fiebre periódica, estomatitis aftosa, faringitis y adenopatías), se diagnostica mediante la exclusión de otras patologías pediátricas. El score diagnóstico de Gaslini resulta útil al momento de evaluar el riesgo del paciente de padecer una de estas enfermedades inflamatorias, orientando según el resultado al diagnóstico o la exclusión de una de ellas con una sensibilidad del 95% y una especificidad del 82%. No se comprende aún su etiología ni la causa de su respuesta frente a los corticoides y a la amigdalectomía. Marco referencial: En el Servicio de Otorrinolaringología de la Clínica Universitaria Reina Fabiola se sugiere amigdalectomía terapéutica frente a la falta de respuesta de la terapia corticoidea en los niños diagnosticados con síndrome de PFAPA. Materiales y métodos: Se realizó un estudio retrospectivo- descriptivo, mediante revisión de historias clínicas y control telefónico posquirúrgico a los 90 días, de todos los pacientes amigdalectomizados por padecer de síndrome de PFAPA para caracterizar la muestra, evaluar la remisión o no de las crisis febriles y correlacionar este resultado con el score de Gaslini. Resultados: n= 5. Promedio de edad = 3,8 años. Promedio de edad de inicio de las crisis = 3 años. Se observó abundancia de crisis con síntomas floridos y sólo un paciente con historia familiar positiva. El score de Gaslini arrojó pacientes de bajo riesgo. El control telefónico encontró remisión completa de las crisis en todos los pacientes. Conclusiones: Resultados alentadores post-amigdalectomía. Respaldo del score de Gaslini.

Introduction: PFAPA syndrome (periodic fever, aphthous stomatitis, pharingytis, and adenopaty), is a periodic fever syndrome which is diagnosed by excluding other diseases. It usually begins between 2 and 5 years old. It is known that Gaslini Score is useful to evaluate the patient’s risk of developing one of these inflammatory diseases, having a sensitivity of 95% and a specificity of 82%. Neither its etiology, nor their response to corticosteroids and tonsillectomy is still clear. Framework: In the Department of Otolaryngology at the Clínica Universitaria Reina Fabiola, therapeutic tonsillectomy is suggested when PFAPA syndrome is diagnosed and response against corticosteroids fails to curb the incidence of this disease in the daily life of the child. Materials and methods: A retrospective descriptive study was conducted by reviewing medical records and telephone control at 90 days after surgery, in all patients undergoing tonsillectomy that suffer syndrome PFAPA, in order to characterize the patients included, evaluate remission and correlate this results with gaslini score. Results: n= 5. Average age = 3.8 years. Average age of onset of the crisis = 3 years. Many patients had generalized symptoms as companions of the crisis, but only one had a positive family history. Gaslini’s score dropped as a result all low-risk patients. The telephone control found a complete remission of crises in all patients. Conclusions: Post-tonsillectomy results, in our patients that have PFAPA syndrome, are encouraging as definitive therapy, as well as the correlation with the score of Gaslini.

Introdução: o PFAPA síndrome (febre periódica, estomatite aftosa, faringite e linfadenopatia), é diagnosticada pela exclusão de outras patologias pediátricas. A pontuação de Gaslini é útil quando se avalia risco de desenvolver uma dessas doenças inflamatórias do paciente, orientando-o com o resultado de diagnóstico ou exclusão com uma sensibilidade de 95% e uma especificidade de 82%. Ainda não se compreende a sua etiologia ou causa da sua resposta aos corticoides e amigdalectomia. Quadro de referência: No Departamento de Otorrinolaringologia da Clínica Universitaria Reina Fabiola se sugere amigdalectomia terapêutica frente a falta de resposta da terapia com corticosteróides em crianças com diagnóstico de síndrome de PFAPA. Materiais e métodos: Um estudo descritivo retrospectivo foi realizado pela revisão dos prontuários e de controle telefonico pós-cirúrgico após 90 dias, de todos os pacientes pós-amigdalectomia por sofrer síndrome PFAPA para caracterizar a amostra, avaliar a remissão ou não as convulsões febris e correlacionar este resultado com score de Gaslini. Resultados: n = 5. Edade média = 3,8 anos. Edade média de início das crises = 3 anos. Observou-se abundância de crise com sintomas floridas e sómente uma história familiar positiva. A pontuação de Gaslini indicou pacientes de baixo risco. O controle telefonico deu como resultado uma remissão completa das crises em todos os pacientes. Conclusões: Resultados encorajadores pós-amigdalectomia. Respaldo do score de Gaslini.

Long-Term Outcome of Classic and Incomplete PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) Syndrome after Tonsillectomy.

OBJECTIVE: To compare the effectiveness of tonsillectomy and the long-term outcome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome in patients fulfilling the classic diagnostic criteria and in those with regularly recurring fever as the only symptom or with onset of symptoms after age 5 years or both. STUDY DESIGN: We reviewed the medical records of 3852 children who underwent tonsillectomy between 1990 and 2007 and identified 108 children who did so because of regularly recurring fevers. The patients were invited to an outpatient visit and were classified into 2 groups: those who met (N = 58) and those who did not meet (N = 50) Thomas diagnostic criteria. We then compared the clinical profile and outcome of PFAPA symptoms after tonsillectomy between the 2 groups. RESULTS: In the group that met Thomas criteria, 97% (56/58) had complete resolution of fever episodes after tonsillectomy; in the group that did not meet Thomas criteria (50/50) had complete resolution of fever episodes after tonsillectomy (P = .25). The clinical profile of the periodic fevers and the occurrence of other illnesses during follow-up were similar in both groups. Thomas criteria identified 56 of 106 patients responding to tonsillectomy. CONCLUSIONS: Tonsillectomy was an effective treatment for patients with regularly recurring fever episodes who failed to meet the classic Thomas criteria. We suggest that PFAPA syndrome should be suspected and tonsillectomy considered in children with a late onset of symptoms (>5 years of age) or when fever is the only symptom during the episodes.

Síndrome PFAPA. ¿Cuándo sospecharlo?

Introducción: El síndrome de Marshall o PFAPA, por sus siglas en inglés (Periodic fever, aphtas, pharyngitis and cervical adenopathies), es una patología que se caracteriza principalmente por cuadros de ebres periódicas asociadas a faringitis y estomatitis. Los pacientes suelen recibir múltiples cursos de antibióticos antes de ser diagnosticados. Se desconoce su causa exacta, el diagnóstico es clínico y se con rma con la mejoría del cuadro luego de la administración de prednisona oral. Caso clínico: Se presenta el caso de una paciente de 4 años de edad quien inició con episodios febriles recurrentes desde los 9 meses de edad y luego de múltiples ciclos de antibióticos se sospecha el Síndrome de Marshall el cual mejoró luego del abordaje terapeútico dirigido. Discusión: El síndrome de Marshall o PFAPA es una entidad que debe ser considerada durante la atención primaria en aquellos pacientes que acuden frecuentemente por cuadros de ebre, faringitis y estomatitis aftosas. La sospecha de este diagnóstico mejora la calidad de vida del paciente y sus familiares considerando la ansiedad que produce a los padres llevar a su niño con frecuencia al cuarto de urgencias.

Introduction: Marshall syndrome or PFAPA (Periodic fever, aphtas, pharyngitis and cervical adenopathies), is a condition that is mainly characterized by periodic fevers associated with pharyngitis and stomatitis. Patients usually receive multiple courses of antibiotics before being diagnosed. The exact cause is unknown, the diagnosis is clinical and con rmed with the improvement of the condition after administration of oral prednisone. Case report: We report a case of a 4 year old girls who started with recurrent febrile episodes from 9 months and after multiple courses of antibiotics, Marshall Syndrome was suspected and patient improved after targeted therapy. Discussion: Marshall Syndrome or PFAPA is a condition that must be considered during primary care attention of those patients who frequently consult by cyclic episodes of fever, pharyngitis and aphthous stomatitis. The suspicion of this diagnosis improves the quality of life of patients and their families considering the anxiety of parents who needs to take their child to the emergency