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Medicina & Laboratorio

2020, Number 2

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Medicina & Laboratorio 2020; 24 (2)

PFAPA syndrome: a case report

Hamdan-Pérez JA, Morán-Quiñones LM, Cortés-Bolaños GM, Valencia-Chacón DF, Benavides-Rodríguez JL, Bastidas BE

Language: Spanish
References: 27
Page: 141-151
PDF size: 416.19 Kb.


ABSTRACT

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.


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