Philip G. Scimeca

Transformation of congenital neutropenia into monosomy 7 and acute nonlymphoblastic leukemia in a child treated with granulocyte colony-stimulating factor

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.

Chemotherapeutic treatment of malignant chordoma in children.

Purpose: We describe the effect of multiugcnt chemotherapy for malignant chordoma. Previous reports of other patients with malignant ehordoma 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 mctastatic 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: Ifosfamidc and doxorubicin were efficacious in a patient with advanced mctastatic disease, producing significant disease regression. The addition of intrathecal or intraventricu-lar 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, cyclophos-phamide and vincristine nor the combination of cisplatin and 5-fluorouracil or high-dose methotrexate.

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.

Diamond-Blackfan syndrome: an unusual cause of hydrops fetalis

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.

Hemolytic uremic syndrome associated with cisplatin therapy.

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. Cisplatins 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.

Concordant rhabdoid tumor of the kidney in a set of identical twins with discordant outcomes.

We report identical twin boys who each had stage IV rhabdoid tumor of the left kidney at the age of 5 months and 2 years, respectively. The 5-month-old boy, despite receiving chemotherapy, died of progressive disease at the age of 12 months. Following resection of the tumor, his twin brother was treated with 6 cycles of combination chemotherapy consisting of cisplatinum, doxorubicin, vincristine, cyclophosphamide, and actinomycin-D alternating with ifosfamide and etoposide. After complete regression of lung and brain metastases, he received high-dose thiotepa, etoposide, and cyclophosphamide, followed by autologous peripheral stem cell rescue. The patient is presently alive and free of disease 6 years posttransplant. High-dose chemotherapy followed by autologous stem cell transplant may be an effective front-line therapeutic approach for patients with metastatic rhabdoid tumor of the kidney.

Suspicion of child abuse complicating the diagnosis of bleeding disorders

Bruising is common in childhood and may be an important indicator of abuse. Physicians must accurately differentiate bruises resulting from abuse and those resulting from accidents. Complicating this task is the occasional child with nontraumatic purpura or an atypical presentation of a bleeding disorder [1–3]. We report three children with bruising due to medical problems in whom the diagnosis of child abuse was pursued, resulting in delays in the diagnosis of the underlying disorders. The parents involved were convinced that there was a problem and sought additional diagnostic testing. These cases are presented, analyzed, and suggested techniques for a comprehensive evaluation of such patients are considered.

Does Rapidly Progressive Iron Overload in a Young Girl with Sideroblastic Anemia Also Signify the Presence of Hereditary Hemochromatosis

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 patients clinical course is postulated.

Acquired Coagulation Inhibitor in Association With Rocky Mountain Spotted Fever With a Review of Other Acquired Coagulation Inhibitors

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.