Faculty Bibliography

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

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

In an effort to simplify chemotherapy dose calculations and reduce the incidence of medication errors, a commercially available, general database management program was used to aid in the management of an active pediatric hematology/oncology service. The software was customized to include all medications used by the specialty practice, as well as some used in a general pediatric setting. After entering a patient's height and weight, the database rapidly computes and immediately displays the patient's surface area, appropriate intravenous fluid rates, and doses of antibiotic, chemotherapeutic, and other drugs. No prior computer expertise is required to run the program, which can be used easily by physicians and nurses. A database program similar to this can be implemented and customized easily for any hematology/oncology practice, and can facilitate patient care by reducing both the time and effort needed to order medications as well as the number of medication errors

A cytogenetically normal infant with Kostmann syndrome (severe congenital granulocytopenia) was treated with granulocyte colony-stimulating factor, which resulted in a rapid improvement in his neutrophil count and a resolution of recurrent infections. After 11 months of therapy, splenomegaly developed, with thrombocytopenia, anemia, circulating nucleated erythrocytes, and acquired monosomy 7, which evolved during a period of 7 months into acute nonlymphoblastic leukemia. The use of granulocyte colony-stimulating factor in patients with congenital marrow failure disorders may induce or hasten the onset of a malignant transformation

A fetus with absent radii in both forearms was discovered on routine ultrasound examination performed at 18 weeks of pregnancy. No other significant abnormalities were found, and no signs of haemorrhage were detected. Serial ultrasound examinations revealed no evidence of fetal internal bleeding. At 37 weeks of pregnancy, a CBC obtained by cordocentesis under ultrasound guidance confirmed the diagnosis of thrombocytopenia absent radii (TAR) syndrome. Apheresis platelets were transfused into the umbilical vein to correct the thrombocytopenia and was followed by an uncomplicated delivery. No bleeding was encountered during the remainder of the baby's neonatal course. We conclude that TAR syndrome can be readily identified prenatally on sonogram, and if severe thrombocytopenia is confirmed by cordocentesis, platelets should be transfused to diminish the risk of serious internal bleeding during and immediately after delivery

A severely anemic 3-year-old girl with refractory sideroblastic anemia and fulminant, fatal hemochromatosis is described. The patient had transfusion-dependent anemia with clinical cardiac, liver, and endocrine dysfunction that resulted from iron loading. The patient was minimally transfused, and deferoxamine chelation was started at age 34 months. Despite treatment, the patient died at age 46 months as a result of severe iron overload. Sideroblastic anemia and iron overload in childhood are reviewed, and a pathophysiologic mechanism for the patient's clinical course is postulated

A patient with acute lymphoblastic leukemia (ALL) who had undergone an allogeneic bone marrow transplant that included high-dose chemotherapy and total body radiation without eye shielding, sustained an isolated relapse of her disease in the iris. A review of ocular leukemic disease is discussed

An unusual case of Diamond-Blackfan syndrome whose initial presentation was hydrops fetalis is presented. Diamond-Blackfan syndrome and the pathophysiology of hydrops fetalis in severely anemic infants are briefly reviewed

An adolescent with a small round cell tumor of the chest wall, who was treated with cisplatin, developed hemolytic uremic syndrome with severe hypertension, which ultimately contributed to her death. Cisplatin's role as a possible causative agent of this syndrome is discussed. Recommendations are made for monitoring abnormalities that may signal the onset of this potential complication

An acutely ill 4-year-old girl with Rocky Mountain spotted fever (RMSF) was found to have a coagulation inhibitor. This child had no serious bleeding manifestations and minimal hemorrhagic skin manifestations despite severe RMSF, concurrent thrombocytopenia, as well as the coagulation inhibitor. Hemostatic abnormalities that occur with RMSF as well as other infectious illnesses associated with coagulation inhibitors are reviewed