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.

Chemotherapeutic treatment of malignant chordoma in children.

PURPOSE: We describe the effect of multiagent chemotherapy for malignant chordoma. Previous reports of other patients with malignant chordoma treated with chemotherapy as well as other therapeutic interventions are reviewed. PATIENTS AND METHODS: We describe a 19-month-old girl with unresectable cervical chordoma metastatic to the lungs at diagnosis treated with multiagent systemic chemotherapy. CNS disease was diagnosed after one course of therapy, and intrathecal chemotherapy was then administered. CONCLUSIONS: Ifosfamide and doxorubicin were efficacious in a patient with advanced metastatic disease, producing significant disease regression. The addition of intrathecal or intraventricular therapy with hydrocortisone, ARA-C, and methotrexate was effective in controlling CNS disease due to chordoma. There was no apparent benefit from the use of actinomycin-D, cyclophosphamide and vincristine nor the combination of cisplatin and 5-fluorouracil or high-dose methotrexate.