It is uncommon for pediatric patients with rhabdomyosarcoma to present with clinical and/or laboratory features of disseminated intravascular coagulation (DIC). We report a case of metastatic alveolar rhabdomyosarcoma with severe bleeding because of DIC in a 13-year-old boy. He experienced persistent oozing at the site of a previous operation, gross hematuria, and massive epistaxis. Two weeks after initiating combination chemotherapy... |
Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have... |
The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more... |
Acute internal hemorrhage is an occasionally life-threatening complication in pediatric cancer patients. Many therapeutic approaches have been used to control bleeding with various degrees of success. In this study, we evaluated the efficacy of selective internal iliac artery embolization for controlling acute intractable bleeding in children with malignancies. We retrospectively evaluated the cases of 6 children with various malignancies (acute lymphoblastic... |
A 7-year-old boy presented with hematochezia and abdominal pain. A 3.7-cm-sized mass was identified in the ascending colon by abdominal computed tomography and colonoscopy. The patient underwent surgical resection. Pathological examination revealed a low-grade perivascular epithelioid cell tumor (PEComa). PEComa in the colon is very rare. Only a few cases have been reported so far. An effective treatment method for... |
Purpose : This study aims to compare the outcome of total body irradiation (TBI)- or non-TBI-containing conditioning regimens for leukemia in children. Methods : We retrospectively evaluated 77 children conditioned with TBI (n=40) or non-TBI (n=37) regimens, transplanted at Chonnam National University Hospital between January 1996 and December 2007. The type of transplantation, disease status at the time of transplant, conditioning regimen,... |
Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy characterized by endothelial cell damage, resulting in microangiopathic hemolytic anemia, thrombocytopenia, and various degrees of neurological and renal impairment caused by microvascular thrombi. It is rare in children and frequently follows a fatal course. TTP is divided into 2 types: one is inherited and associated with ADAMTS-13 gene mutations and the other... |
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children younger than 4 years and is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. HUS associated with diarrheal prodrome is usually caused by Shiga toxin-producing Escherichia coli O157:H7 or by Shigella dysenteriae, which generally has a better outcome. However, atypical cases show a... |
Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) with central nervous system (CNS) involvement is usually fatal unless stem cell transplant (SCT) is offered. However, SCT with conventional intensity conditioning is associated with high transplant-related mortality. We describe our experience with unrelated SCTs after reduced-intensity conditioning (RIC) for patients with EBV-HLH with progressive CNS disease. This approach was associated with minimal toxicities and... |
Facial palsy as the presenting symptom of leukemia is very rare, especially in acute myeloid leukemia. A review of the medical literature identified reports on 8 children with AML who had facial paralysis as the presenting sign. Whole brain irradiation (WBI) has been applied in most cases. We present the cases of 3 such children. Achieving a remission without WBI,... |
Wilms` tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms` tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had... |
Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods :... |
Osteopetrosis, a rare osteosclerotic bone disease characterized by a defect in osteoclast function and the reduced generation of superoxide by leukocytes, can be classified into several types based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. Stem cell transplantation is the only curative therapy for the infantile malignant type, although alternative treatments, such as corticosteroids,... |
Purpose : The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. Methods : Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia... |
Purpose : Failure of hematopoietic stem cell transplantation(HSCT) may be encountered in practice because of either relapse of the malignancy or dysfunction of the graft. Second HSCT may be the only option for some patients whose initial HSCT failed. Methods : From May, 1991 to December, 2004, 115 HSCTs were performed at the Pediatric Blood & Marrow Transplantation Center, Chonnam National... |
Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of... |
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the... |
Paragonimiasis is the infestation of lung flukes of the trematode genus Paragonimus. This disease is common in Asia, and the southern part of Korea has been known as one of the endemic areas of Paragonimiasis westermanii in Korea. Human infection is associated with specific dietary habits, such as eating freshwater crawfish or crabs. In a 6 1/2-year-old boy with pleural... |
Purpose: Though more than 15 years have passed after introduction of Lorenzo's oil therapy in X- linked adrenoleukodystrophy(ALD), its efficacy is still fully not known. In patients who already have neurologic symptoms, most reports indicate that the neurologic disability continues to increase. We evaluated its efficacy in X-linked ALD patients. Methods: Four patients who were treated with Lorenzo's oil for at... |
Isolated relapse of myeloid leukemia as a granulocytic sarcoma(GS) following allogeneic bone marrow transplantation(BMT) is very rare manifestation, and usually associated with a poor prognosis. We report a case of isolated intracranial GS in an infant with myelodysplastic syndrome(MDS) following unrelated BMT. A 7 month-old girl was diagnosed with refractory anemia with excess blasts (RAEB). During observation for a couple... |
Purpose : Neurologic complications(NC) after hematopoietic stem cell transplantation(HSCT) are important because of high mortality and severe sequelae. We analyzed the incidence, manifestation and risk factors of NC in 61 children undergoing HSCT. Methods : We retrospectively analyzed NC in 61 cases(42 male and 19 female, aged one to 16 years) given HSCT between 1996 and 2003 due to hematologic malignacies,... |
Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied the cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells from two siblings and one cousin with XLA, as well as additional family members. Methods : Btk... |
Wolman' disease is a rare autosomal recessive disorder in which a deficiency of lysosomal acid lipase leads to the accumulation of cholesteryl esters and trigycerides in most of the body tissues. Clinically, it is characterized by abdominal distention, hepatosplenomegaly, vomiting, intractable diarrgeam steatorrhea, malabsorption, inanitionm failure to thrive, and bilateral enlargement and calcification of the adrenal glands demonstrated by roentgenographic... |
Purpose : Fungal infections are an important cause of morbidity and mortality in patients with hematologic malignancies. The therapy of choice in documented or suspected invasive fungal infections has been intravenous Amphotericin B(AmB). Adverse effects such as fever, chills, thrombophlebitis, nausea or vomiting are common. A more serious adverse effect is potential renal impairment. As AmB administration mixed with Intralipid(AmB/Intralipid)... |
Purpose : Since umbilical cord blood (UCB), which used to be discarded, was found to be a source of enriched hematopoietic stem and progenitor cells, basic research to elucidate characteristics of UCB hematopoietic stem cells (HSCs) and its clinical application to bedside transplantation have been attempted. Moreover, stem cell transplantation (SCT) has expanded its role, not only in hematopoietic reconstitution, but in cancer therapy,... |
Purpose : Central venous catheters are used to deliver antibiotics, chemotherapeutic agents, and parenteral nutrition for a extended period of time as well as to draw samples in immunocompromised patients to minimize the discomfort with sampling and the risk of introducing infections. Hickman/Broviac catheters or implantable devices have been used in pediatric patients. This study is aimed to evaluate the safety and clinical efficacy of... |
Providing pediatric cancer patients with medical information is thought to facilitate realistic coping; however, systematic research into this concept has been lacking. We analyzed the attitudes of nationwide 220 cancer patients, their parents and doctors towards the care of children with cancer, concerning the patients' understanding of their diseases, from whom the patient heard about his(her) disease, whether the patient... |
The authors experienced two cases of goitrous hypothyroidism in siblings. The etiology was considered to be defect of iodide organification in steps of thyroxine synthesis. The diagnosis was made on the basis of history, clinical features, thyroid function test, thyroid scanning, ultrasonogram and perchlorate discharge test. We report these cases with a review of related literatres. |