Atypical PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis) in a young girl with Fanconi anemia

• Published in: Journal of pediatric hematology/oncology Vol. 18; no. 2; p. 159
• Main Authors: Scimeca, P G, James-Herry, A G, Weinblatt, M E
• Format: Journal Article
• Language: English
• Published: United States 01.05.1996
• Subjects: Cecal Diseases - complications; Child; Child, Preschool; Familial Mediterranean Fever - complications; Familial Mediterranean Fever - drug therapy; Fanconi Anemia - complications; Female; Humans; Intestinal Perforation - etiology; Lymphadenitis - complications; Lymphadenitis - drug therapy; Pharyngitis - complications; Pharyngitis - drug therapy; Prednisone - therapeutic use; Stomatitis, Aphthous - complications; Stomatitis, Aphthous - drug therapy; Syndrome; Ulcer - complications
• ISSN: 1077-4114
• DOI: 10.1097/00043426-199605000-00012

To describe a case of atypical, severe, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA syndrome) in a patient with Fanconi anemia. Important aspects about the PFAPA syndrome and Fanconi anemia are reviewed. An 8-year-old girl with Fanconi anemia was noted to have a pattern of periodic fever, stomatitis, and pharyngitis consistent with the diagnosis of PFAPA syndrome, a generally benign disorder. After prednisone treatment for the syndrome, life-threatening intestinal ulceration and perforation developed, which was successfully treated. In patients with underlying hematologic disease such as Fanconi anemia, PFAPA syndrome may be associated with severe clinical problems in contrast to otherwise normal children with the disorder.