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, 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.

PATIENTS AND

METHODS

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.

CONCLUSION

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.