Purpose : Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes the elastin gene. We examined the hemizygotic deletion of Chromosome 7q11.23 in 12 Korean Williams syndrome patients and 8 patients with isolated supravalvular aortic stenosis and performed deletion mapping... |
Purpose : This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease(ARPKD). Methods : The medical records of 10 children diagnosed as infantile or juvenile ARPKD at Seoul National University Children's Hospital between January, 1984 and December, 1996, were reviewed, retrospectively. Results : The average age at diagnosis was 3 8/12 years(4months-7 3/12 years)... |
Purpose : The purpose of this study was to find an objective criteria to determine the position of normal anus in Korean children and to evaluate the clinical significance of anterior displacement of anus in children with constipation. Methods : Three hundred and thirty-nine normal children and 24 children with idiopathic constipation represented the basis of this study. The position of the normal anus... |
Ectopic pancreas is defined as pancreatic tissue lacking anatomical and vascular continuity with the main body of the pancreas. Common symptoms are epigastric pain, hemorrhage, chest pain, weight loss, nausea and vomiting. A 2-month-old male patient was hospitalized because of continuous bile stained vomiting for 2 days. Abdominal ultrasonography and colon study showed malrotation of the intestine. Surgical exploration revealed... |
Inappropriate secretion of antidiuretic hormone(ADH) secondary to vincristine therapy has been reported frequently. But there has been five previous reports of vinblastine associated SIADH in the world and in 4 reports, bleomycin and cis-platinum were used along with vinblastine together. Because penetration of vinka alkaloids into CSF of humans is known to be poor, it has been suggested that lowering... |
Congenital self-healing reticulohistiocytosis(CSHR) is a rare variant of cutaneous reticulohistiocytosis. We report a newborn who had about 25 reddish brown papulonodular lesions on whole body at birth. No extracutaneous involvement was found. All skin lesions involuted within 4 months spontaneously. Biopsy of a skin lesion showed marked aggregated histiocytic infiltration with some eosinophils. S-100 protein and lysozyme were positive. Electron... |
Purpose : To establish reference ranges for thyroid hormone concentrations in premature infants, we measured T4 and thyroid stimulating hormone(TSH) concentrations and analyzed the relation to gestational age and birth weight. Methods : Serum T4 and TSH concentrations were measured by radioimmunoassay for 391 premature infants born in Sanggye Paik Hospital for two years and eight months. Results : Gestational age of... |
Intestinal lymphangiectasia is a primary or secondary disorder of lymphatics which is associated with protein-losing enteropathy, hypoalbuminemia, edema, abdominal distension and growth failure. The patients with this disease lose albumin, immunoglobulins, and lymphocytes through the bowel. We have experienced one case of intestinal lymphangiectasia in 8 month-old boy, whose chief complaint was abdominal distension and watery diarrhea. He had hypoalbuminemia(1.7gm/dl).... |
Purpose : Clinical and pathological prognostic factors of idiopathic IgA nephropathy have been reported, but mostly in adults and a few in children. Especially studies about correlation between those factors are very rare. Methods : We studied 58 children patients who were hospitalized to our clinics and diagnosed as IgA nephropathy by renal biopsy from Jan. 1989 to Jun 1996. They... |
Neonatal hyperthyroidism is a very rare disorder occurring typically in the offspring of patients with Graves' disease or chronic thyroiditis. It is caused by the transplacental passage of thyroid stimulating antibodies(TSAb) from the mother to the fetus. There has been few reports of neonatal hyperthyroidism associated with congenital anomalies. We experienced a case of neonatal hyperthyroidism with unilateral microtia and agenesis of external auditory canal... |
Purpose : We evaluated the response to immunomodulation therapy, long-term survival and relapse rate of aplastic anemia during follow-up for more than 1 year. Methods : Twenty-eight children, with moderate to severe aplastic anemia were followed for more than one year and 7 children expired after therapy, were analyzed. Antilymphocyte globulin(ALG) or antithymocyte globulin(ATG) by itself was given to 27 patients, and cyclosporine A(CsA)... |
Purpose : Despite the use of improved therapeutic modalities, long-term survival remains poor in patients in stage Ⅲ or Ⅳ of neurobalstoma and for over 1 year olds at diagnosis. We evaluated the long-term survival rate and related prognostic factors in advanced neuroblastoma. Methods : Twenty-nine children diagnosed with stage Ⅲ or Ⅳ neuroblastoma after 1 year of age, between May... |
Purpose : The purpose of this study is to analyze the etiology of gynecomastia confirmed by breast operation among children under the age of 15 exhibiting clinical symptoms. Methods : Twenty patients under the age of 15 were diagnosed as having gynecomastia in the past 10 years. The number of pathologically confirmed gynecomastia patients was 15. The causes or related... |
Purpose : In H. pylori infection serum pepsinogen Ⅰ/Ⅱ ratio decreases and pepsinogen Ⅱ level is increased. Increased serum pepsinogen Ⅱ level correlates with pathologic severity of gastritis. We assayed serum pepsinogen Ⅰ, Ⅱ levels and pepsinogen Ⅰ/Ⅱ ratio to evaluate the relationship between the serum pepsinogen level and upper gastrointestinal diseases. Methods : One hundred and sixty-five children who had... |
Purpose : Germ cell tumors have variable clinical characteristics according to the age, sex, primary site, and pathologic diagnosis. To provide the therapeutic principle, the clinical characteristics, response to the treatment, and prognostic factors were analyzed. Methods : Medical records of 57 children who were diagnosed as malignant germ cell tumor in Seoul National University Children' s Hospital from January 1986 till June 1996 were... |
Primary endodermal sinus tumor(yolk sac tumor) of the mediastinum is rare. Most patients are young and male, and the great majority of tumors are found in the anterior mediastinum, and spontaneous hemothorax is a rare presentation of intrathoracic tumors. We report a case of spontaneous hemothorax associated with a posterior mediastinal endoderml sinus tumor occuring in a female patient. Brief review and related literatures... |
Amebiasis is an infectious disease caused by Entameba histolytica. Amebiasis remains an extremely important consideration in the differential diagnosis of diarrhea, especially when there is associated bleeding. It is imperative that appropriate studies to establish or exclude the diagnosis of amebiasis be carried out in all patients who present with a clinical and sigmoidoscopic picture of colitis, and that patients treated with metronidazole for amebiasis... |
Purpose : We have assessed the clinical usefulness of solid maker transit technique and Barr-score in 31 patients with idiopathic constipation (male:female; 17:14, mean age; 6.7 years, range 1.4-12 years). Methods : All patients underwent full history taking and physical examination including rectal examination. On first visit to gastroenterology clinic a plain abdominal film was taken for Barr-score which evaluated by two observers without the... |
Purpose : Studies done in Western societies have described characteristics of infant crying behavior. These include:crying peak in the second month, diurnal rhythm(typified by clustering during evening hours) and crying that is robust to differences in caretaking styles. This survey was undertaken to compare the crying patterns of Korean babies with those of their Western counterparts. Methods : From June 1995 to March 1996, well... |
We experienced a case of congenital acute megakaryoblastic leukemia with Down syndrome. The patient was admitted due to characteristic facial figure of Down syndrome and abdominal distension. Acute megakaryoblastic leukemia was diagnosed with abundant megakaryoblast in peripheral blood smear, severe myelofibrosis in bone marrow biopsy and positive platelet glycoprotein Ⅲa receptor. On third hospital day, the patient expired due to DIC... |
Lymphoid interstitial pneumonia(LIP) is an uncommon process in childhood, and is characterized by interstitial accumulation of mature lymphocytes, plasma cells and reticuloendothelial cells. LIP is believed to have autoimmune or immunologic pathogenesis, because it is frequently associated with acquired immune deficiency syndrome, Epstein-Barr virus infection, common variable immunodeficiency. The patient described in this report had idiopathic thrombocytopenic purpura, Evans syndrome... |
Multicystic encephalomalacia is the condition defined anatomically by the presence of multiple cavities in the great part of both cerebral hemispheres. The most common cause of the condition was regarded as the circulatory disturbance during the perinatal period. Also,neonatal asphyxia was the most important cause of the circulatory disturbance. But we experienced a case of multicystic encephalomalacia in a liveborn twin with a stillborn... |
Granular lymphoblast which is characterized by the presence of clearly defined azurophilic cytoplasmic granules are a relatively uncommon finding and indicate a negative impact on prognosis of childhood ALL. Granular ALL is more common in FAB L2 cases but there is no significant difference by immunophenotype and no specific cytogenetic abnormality correlated with clinical significance of granular ALL has been reported. We present a case... |
Purpose : Pulmonary interstitial emphysema(PIE) is a common and serious complication of mechanical ventilation in infants with hyaline membrane disease. This abnormal collection of gases has two basic roentgenographic features; linear and cyst-like radiolucencies. High positive inspiratory pressure was found to be the most significant parameter associated with development of fatal pulmonary interstitial emphysema. Without prompt conservative management such as lowering peak inspiratory... |
Purpose : There have been many accidental ingestions of strong acid or alkali in early childhood. If the patient survives the acute effects of caustic ingestion, the reparative response can result in esophageal and gastric stenosis. However there have been few endoscopic studies on caustic esophagitis in children. The aim of this study was to review the contribution of the endoscopy to the diagnosis... |
Purpose : To know the natural course of the ostium secundum ASD including its rate of spontaneous closure. Methods : We studied 259 cases who were diagnosed as ostium secundum ASD by 2D-echocardiography at Department of Pediatrics, Kyungpook National University Hospital between Jan. 1985 and Dec. 1994. According to the age at diagnosis, we divided them into two groups, group I (those diagnosed before 1... |
Infantile acute hemorrhagic edema(IAHE) is a variant of leukocytoclastic vasculitis which is characterized by painful edematous purpura of cockade pattern on the head and distal extremities. The lesions are limited to the skin and complete recovery occurs within 1 to 3 weeks. Recently, it is accepted as a separate entity from Henoch-Schönlein purpura. A nine month-old boy presented multiple cockade ecchymotic plaques and inflammatory... |
Intestinal neuronal dysplasia(IND) is a disease characterized clinically by symptoms of intestinal obstruction and pathologically by hyperplasia of the submucosal and myenteric plexuses with formation of giant ganglia. Chronic intestinal pseudo-obstruction is a clinical diagnosis, composed of myopathic form and neuropathic form, and normal intestinal histology. Intestinal neuronal dysplasia is a neuropathic form of chronic intestinal pseudo-obstruction. The clinical presentation and the course of IND... |
Purpose : Although routine urinalysis can detect leukocyturia, difficulties remain in differentiating subpopulations of leukocytes and various epithelial cells in urinary sediments. This study was performed to appreciate the value of cytodiagnostic urinalysis in the discrimination of leukocyturias of bacterial urinary tract infection (UTI) from those without UTI. Methods : Urine from 12 children with UTI (UTI group) and from 11 children without UTI (non-UTI... |
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