Pg. Scimeca et al., ATYPICAL PFAPA SYNDROME (PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, ADENITIS) IN A YOUNG GIRL WITH FANCONI-ANEMIA, Journal of pediatric hematology/oncology, 18(2), 1996, pp. 159-161
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.