ATYPICAL PFAPA SYNDROME (PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, ADENITIS) IN A YOUNG GIRL WITH FANCONI-ANEMIA

Purpose: To describe a case of atypical, severe, periodic fever, aphth ous stomatitis, pharyngitis and adenitis syndrome (PFAPA syndrome) in a patient with Fanconi anemia. Important aspects about the PFAPA syndr ome and Fanconi anemia are reviewed. Patients and Methods: An S-year-o ld girl with Fanconi anemia was noted to have a pattern of periodic fe ver, stomatitis, and pharyngitis consistent with the diagnosis of PFAP A syndrome, a generally benign disorder. After prednisone treatment fo r the syndrome, life-threatening intestinal ulceration and perforation developed, which was successfully treated. Conclusion: In patients wi th underlying hematologic disease such as Fanconi anemia, PFAPA syndro me may be associated with severe clinical problems in contrast to othe rwise normal children with the disorder.