Renal medullary carcinoma: a nearly fatal malignancy specifically affecting patients with a so-called benign condition.

Renal medullary carcinoma (RMC) is a highly aggressive and rare malignancy found almost exclusively in young patients with sickle cell trait (SCT). Metastatic disease is commonly present at diagnosis. There is very limited experience treating disseminated disease and the prognosis is dismal. We report the case of a young 9-year-old boy with SCT, who presented with 4 months' progression of abdominal pain, nausea and vomiting associated with cough spells, dysphagia, and weight loss. Upon evaluation, he was underweight, pale, and in mild respiratory distress. Cervical lymphadenopathy was evident and abdomen was diffusely tender. A whole-body CT scan showed a left kidney lesion with associated cervical, mediastinal, and retroperitoneal lymphadenopathy. Biopsy of a cervical lymph node revealed metastatic RMC. Patient was started on combination chemotherapy with paclitaxel, carboplatin, and gemcitabine followed by left adrenalectomy. In spite of having advanced disease, our patient achieved an excellent response with a progression-free survival of 17 months. Although SCT is thought to be a "benign" condition, RMC is one devastating complication associated with it. Considering its rarity, the near uniform associated fatality should prompt the question of whether clinical practice should change regarding proper counseling of these patients and raise awareness in the medical community.

Pediatric hematopoietic stem cell transplantation: fifteen year experience in Puerto Rico.

This study summarizes the development and progress of the pediatric Hematopoietic Stem Cell Transplantation (HSCT) program in Puerto Rico. Data from the two pediatric transplant centers was collected from July 1994 through December 2009. Overall, in the last 15 years 97 transplants have been performed to 87 children and young adults. These included 55 males and 32 females, aged between 1 and 38 years of age. The diagnosis included: acute leukemia, chronic leukemia, myelodysplasia, aplastic anemia, histiocytosis, neuroblastoma, lymphomas, PNET, Wilms tumor, and desmoplastic round cell tumor. Sources of hematopoietic stem cells for transplantation included: 5 autologous bone marrow, 23 allogeneic bone marrow using HLA matched sibling; 18 allogeneic peripheral blood stem cell (PBSC) using HLA-matched sibling and one syngeneic PBSC; 4 haploidentical T-cell depleted bone marrow transplant and 47 autologous PBSC. The results in the past 15 years are encouraging and conform that HSCT is a valuable treatment option in our pediatric population to no other alternative therapy. Our experience compares to those published by others with a 15-year overall survival of 48%. In this same group, the transplant related mortality was 14.9% comparable to published experience in Europe and USA.

Successful treatment of disseminated Aspergillosis in a leukemic child.

The incidence of severe fungal infections in the immunocompromised patient with malignancies has increased in recent years. This appears to be associated to the profound periods of immunosuppression and the extended use of broad spectrum antibiotics. Aspergillosis is the second most common fungal infection reported in the immunocompromised cancer patients. In patients with advanced immunosupression, the mortality due to invasive aspergillosis approaches 100% despite treatment with antifungal agents. Reports of complete or partial response to echinocandins are well demonstrated in adults, but very limited in the pediatric population. This report describes the case of a child with relapsed acute lymphoblastic leukemia (ALL) who developed cutaneous aspergillosis and subsequent multiorgan dissemination during therapeutic induction and was treated successfuly with caspofungin acetate.

Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome.

BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a common genetic disorder in Puerto Rico. In children with HPS, bleeding is the most disturbing and incapacitating problem. Desmopressin (1-deamino-8-D-arginine vasopressin, (DDAVP)) has been recommended in the management of bleeding disorders characterized by platelet dysfunction, such as HPS. METHODS: Nineteen pediatric Puerto Rican patients with HPS and prolonged bleeding time (BT) were tested for response to administration of DDAVP. RESULTS: Baseline BT was abnormal in 18 (95%) of the patients. The BT following DDAVP administration improved in two cases (11%): one from 7.2 to 5.6 min and the other from 8 to 6 min (Tables II and III). BT measurements remained very prolonged (>15 min) in 17 (89%) of the patients. Patients with the HPS 1 gene mutation had a statistically significant correlation with the poor response following DDAVP (P = 0.03). CONCLUSIONS: DDAVP seldom improves the BT of Puerto Rican children with HPS. Response to DDAVP should be determined individually and platelet transfusion should remain the treatment of choice for a major bleeding episode or surgical procedure.

Severe neutropenia in an infant with methylmalonic acidemia.

Neutropenia exists when the neutrophil counts is less than 1000/mm3 in infants between 2 weeks and 1 year of age and less than 1500/mm3 beyond 1 year of age (1). Severe infections occur when the absolute neutrophil count is below 500/mm3 with perirectal abscesses, pneumonia, and sepsis being common. Granulocyte Colony-Stimulating Factor (G-CSF) produces a sustained neutrophil recovery in patients with severe neutropenia, reduces the incidence and severity of infection, and improves the quality of life. Various cytopenias, including neutropenia, thrombocytopenia and pancytopenia, have been reported in association with inborn errors of branched aminoacid metabolism such as methylmalonic, propionic and isovaleric acidemia. We report an infant with methylmalonic acidemia who presented severe neutropenia.

Treatment of childhood acute immune thrombocytopenic purpura with high-dose methylprednisolone, intravenous immunoglobulin, or the combination of both

OBJECTIVE: To compare the effectiveness of intravenous immunoglobulin (IVIG) alone, high dose methylprednisolone (HDMP) alone and the combination of IVIG and HDMP in the treatment of childhood immune thrombocytopenic purpura (ITP). BACKGROUND: Acute ITP in children is a self-limited disease with a benign course and low mortality rate. Patients with platelet count less than 20,000 x 10(9)/L are at increased risk of bleeding complications, making them candidates for treatment. METHOD: A 4 year retrospective study of 148 patients hospitalized with acute ITP was conducted to compare the effectiveness of HDMP vs IVIG vs the combination of IVIG/HDMP. Statistical methods used were descriptive statistics and variance analysis utilizing F distribution. RESULTS: The IVIG and the HDMP combination demonstrated to be superior to HDMP alone in raising the platelet count within the first 24 hours. The HDMP and IVIG combination was statistically a superior modality of treatment for patients with platelet count greater than 10,000 x 10(9)/L than was IVIG or HDMP alone. Intravenous immunoglobulin had the least effectiveness in patients with platelet count less then 10,000 x 10(9)/L within the first 24 hours. CONCLUSIONS: IVIG followed by the combination of HDMP and IVIG is the most effective therapeutic modality in rapidly increasing the platelet count to safe levels in children with acute ITP when compared to HDMP alone within the first 24 hours. For borderline low platelet count (> 10,000 x 10(9)/L) HDMP and IVIG was superior to IVIG alone.