Iron deficiency anemia is a common disorder during infancy and childhood. Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial fatty acid oxidation. However, this metabolic disorder is extremely rare among Asians. Generally MCAD deficiency patients are healthy until initial presentation of hypoketogenic hypoglycemia and encephalopathy which is predisposed by an intercurrent illness and/or a period of poor oral intake. The first attack causes a high risk of mortality or permanent neurologic sequelae. The authors report a suspect case of MCAD deficiency with iron deficiency anemia, with a brief review of related literatures.
Acyl-CoA Dehydrogenase* ; Anemia, Iron-Deficiency* ; Asian Continental Ancestry Group ; Humans ; Hypoglycemia ; Iron* ; Mortality

Fusarium species are common soil saprophytes and plant pathogens. In humans, several species have been recognized as agents of superficial infections. Disseminated Fusariosis have been increasingly described in immunocompromised patients, especially in neutropenic patients. The prognosis is very poor despites antifungal therapy. This is the report of Fusarium oxysporum infection in a 6-year-old patient with relapsed acute leukemia and prolonged neutropenia. The patient presented with persistent fever and multiple erythematous papules with central necrosis or vesicle. Fuasrium oxysporum was isolated and cultured from a skin biopsy specimen. Initially, the patient failed to respond to conventional amphotericin B but recovered after treatment was switched to liposomal amphotericin B and voriconazole.
Amphotericin B* ; Biopsy ; Child* ; Drug Therapy* ; Fever ; Fusariosis* ; Fusarium ; Humans ; Immunocompromised Host ; Leukemia ; Necrosis ; Neutropenia ; Plants ; Prognosis ; Skin ; Soil

Pleuropulmonary blastoma (PPB) is a rare primary malignant neoplasm with poor prognosis in children. PPB originates from the lung, the pleura, or the mediastinum. Histologically, it is characterized by a primitive, mixed blastematous, sarcomatous appearance and the absence of epithelial cell. Initial presenting symptoms are cough, fever and dyspnea. We experienced two cases of PPB (type I and type II). Complete surgical removal is always required for the treatment and chemotherapy and radiotherapy is needed as adjuvant therapy. We report two cases of pleuropulmonary blastoma treated with surgical removal, chemotherapy (vincristine, actinomycin D, cyclophosphamide) and radiotherapy.
Child* ; Cough ; Dactinomycin ; Drug Therapy ; Dyspnea ; Epithelial Cells ; Fever ; Humans ; Lung ; Mediastinum ; Pleura ; Prognosis ; Radiotherapy

PURPOSE: The aim of this study is to find out the role of HEPA filter equipped lamina air flow room reverse isolation for the treatment of anticancer drug induced febrile neutropenic patients. METHODS: Antibiotics and antifungal agents were promptly administered to twenty six patients with febrile neutropenic following chemotherapy from January 2003 to July 2005 at the Department of Pediatrics, Kyungpook National University Hospital, Daegu, Korea. And if possible, they were treated in the aseptic room. RESULTS: Nineteen patients recovered and seven patients died of infectious causes among twenty six patients. Fourteen patients had microbiologically defined infection, seven patients had clinically defined infection, and five patients had unexplained fever. The causes of infection were sepsis, pneumonia and urinary tract infection. The etiologic pathogens were Gram negative bacilli, 6 (42.9%) ; Gram positive cocci, 3 (21.4%) ; and fungus, 5 (35.7%). The dead group showed lower leukocyte count and higher CRP than the survived group. All dead patients showed disseminated intravascular coagulation syndrome (DIC). Nine of the ten patients (90%) who were treated in the aseptic room survived and ten of the sixteen patients (62.5%) in the general ward survived. CONCLUSION: The infection-related mortality of febrile neutropenic patients following chemotherapy is influenced by the early and adequate use of antimicrobial agents, DIC, neutrophil count and CRP. The isolation in the aseptic room increased the survival rate, but it was not statistically significant.
Anti-Bacterial Agents ; Anti-Infective Agents ; Antifungal Agents ; Dacarbazine ; Daegu ; Disseminated Intravascular Coagulation ; Drug Therapy ; Fever ; Fungi ; Gram-Positive Cocci ; Gyeongsangbuk-do ; Humans ; Korea ; Leukocyte Count ; Mortality ; Neutrophils ; Patients' Rooms ; Pediatrics ; Pneumonia ; Sepsis ; Survival Rate ; Urinary Tract Infections

A 14-month-old girl presented with petechial skin lesions and polydipsia was diagnosed as Langerhans cell histiocytosis (LCH) and responded fairly well to multiple chemotherapies using vincristine, cyclophosphamide, and prednisone. 3 years later, relapses were more common with short periods of remissions in spite of using more intensive therapy with vinblatine and etoposide. At age of 4.5, sudden weight gain and abnormal behavior led to MRI study and revealed an hypothalamic mass. Radiation of 1, 800 cGy was given to the mass and followed by a 75% decrease in measuring and remission of the obesity. Although, there was no evidence of tumor progression in the hypothalamus, she died of sepsis due to systemic progression of the disease at age of 5. LCH commonly present with the symptoms of diabetes insipidus, but hypothalamic mass is not common. We report this case with a brief review of literatures.
Cyclophosphamide ; Diabetes Insipidus ; Drug Therapy ; Etoposide ; Female ; Histiocytosis, Langerhans-Cell* ; Humans ; Hypothalamus ; Infant ; Magnetic Resonance Imaging ; Obesity ; Polydipsia ; Prednisone ; Recurrence ; Sepsis ; Skin ; Vincristine ; Weight Gain

Pheochromacytoma, although occasionally present with adrenal cortical hyperfunction, is rarely associated with nonfunctioning adrenal cortical tumor. To our knowledge, eight cases of phemchromocytoma associated with adrenocortical adenoma have been reported in the literature, including a case in a Korean adult female. An adrenal mass is considered an incidentaloma when there is no history or physical findings suggesting an adrenal functional disorder or tumor. The majority of adrenal masses are nonfunctioning adrenocortical adenomas. In our case, left adrenal mass was found incidentally by ultrasonography after birth, done because of mother's oligohydroamnios. Abdomial CT study revealed an adrenal tumor, and a surgical resection was performed. The specimen showed a coincident pheochromocytoma and adrenocortical adenoma. The patient seems to be the first case of coexistence of nonfunctioning pheochromocytoma and adrenocortical adenoma in one adrenal tumor. We report this case with the review of literatures.
Adrenocortical Adenoma* ; Adult ; Female ; Humans ; Infant* ; Parturition ; Pheochromocytoma* ; Ultrasonography

Hepatoblastoma is the most common primary malignant hepatic tumor in infancy and childhood. But congenital hepatoblastomas are extremely rare and show distinctive, but important features when compared with tumors diagnosed in children beyond the neonatal age. They have different clinical presentations, higher incidence of pure fetal histology, significant risk for systemic metastasis, and worse outcome. The treatment of congenital hepatoblastoma should be the same as in older children, i.e., primary chemotherapy with delayed resection. We report a case of congenital hepatoblastoma in a 29-day-old boy who was known to have a well-defined ovoid hypoechoic mass at liver demonstrated by fetal sonography.
Child ; Drug Therapy ; Hepatoblastoma* ; Humans ; Incidence ; Liver ; Male ; Neoplasm Metastasis

The presence of rare paraneoplastic syndrome, the opsoclonus-myoclonus-ataxia syndrome (OMA), may strongly signal the presence of neuroblastoma. We report a case of ganglioneuroblastoma presented with OMA. A 26 month-old girl was admitted due to progressive ataxic gait and myoclonic jerking of the limbs. Brain and spine MRI scans were normal and cerebrospinal fluid analysis showed no specific abnormal finding. Abdominal computed tomography (CT) demonstrated about 3x1.5 cm sized well enhancing solid mass originated from the right adrenal gland. Urinary vanillyl mandelic acid (VMA) was mildly elevated and urinary homovanillic acid (HVA) was normal. After complete resection of the tumor, she was diagnosed with ganglioneuroblastoma and her symptomatology had disappeared.
Adrenal Glands ; Brain ; Cerebrospinal Fluid ; Child, Preschool ; Extremities ; Female ; Gait ; Ganglioneuroblastoma* ; Homovanillic Acid ; Humans ; Magnetic Resonance Imaging ; Myoclonus ; Neuroblastoma ; Paraneoplastic Syndromes ; Spine

Hypereosinophilia has been associated with a variety of underlying disorders such as parasitic, fungal and mycobacterial infections, allergic disorders, collagen vascular diseases, or hypereosinophilic syndrome (HES). The association of acute lymphoblastic leukemia (ALL) and symptomatic eosinophilia is rare and only a few cases have been reported. HES probably occurs in less than 1% of all patients with ALL. The chromosomal translocation t (5; 14) (q31; q32) was cloned at the molecular level in ALL with eosinophilia. This translocation joined the immunoglobulin heavy chain region to the promoter region of the interleukin-3 (IL-3) gene in opposite transcriptional orientation. The IL-3 gene translocated with the immunoglobulin heavy chain gene may play a central role in the pathogenesis of this leukemia and the associated eosinophilia. We describe a 8-year-old boy who presented with hypereosinophilia and concurrent ALL with t (5; 14).
Child* ; Clone Cells ; Collagen ; Eosinophilia ; Humans ; Hypereosinophilic Syndrome ; Immunoglobulin Heavy Chains ; Interleukin-3 ; Leukemia ; Male ; Precursor Cell Lymphoblastic Leukemia-Lymphoma* ; Promoter Regions, Genetic ; Translocation, Genetic* ; Vascular Diseases

PURPOSE: Mesenchymal stem cells (MSC) can be isolated from bone marrow (BM) and when systemically administrated to different species, they undergo site-specific differentiation. In this study, we isolated MSC from human BM and generated a continuously growing colony of cell lines (SNU-hMSC) with SV40 large T antigen. The purposes of this study are to identify whether SNU-hMSC have the characteristics of MSC and their possibility of chondrogenic differentiation. METHODS: MSC were mobilized from BM and cultured in DMEM-LG media for 2 weeks. We obtained SNU-hMSC, by introducing a viral vector of SV40 large T antigen and culturing it in the selected media for 6 months. We identified specific cell markers of MSC via FACS analysis and analyzed expression of cytokines, chemokines and receptors by RT-PCR. To stimulate the proliferation of the cells, we processed the media with FGF, BMP-2 and IL-6. The each medium's cell counts were counted in day 7 and day 14. To differentiate SNU-hMSC, they were cultured in chondrogenic media. After 2 weeks, chondrogenic differentiation was evaluated with safranin-O staining and the expression of COMP, aggrecan and SOX-9. RESULTS: SNU-hMSC exhibited MSC markers. When the IL-6, BMP-2 and FGF were added to each medium, the cell numbers were significantly increased as compared with control. In the study of differentiation, SNU-hMSC exhibited strong safranin-O staining, and chondrogenic gene expression was observed. CONCLUSION: SNU-hMSC expressed markers and cytokines identical with MSC. SNU-hMSC maintained multipotency of differentiation.
Aggrecans ; Antigens, Viral, Tumor* ; Bone Marrow ; Cell Count ; Cell Line ; Chemokines ; Chondrocytes* ; Cytokines ; Gene Expression ; Humans* ; Interleukin-6 ; Mesenchymal Stromal Cells*