A 47-day-old male infant presented with fever, poor oral intake, irritability, and right-sided bluish buccal swelling. Contrast-enhanced computed tomography of the neck showed a round mass lesion of about 2.0×1.5 cm that suggested abscess formation in the right masticator space. Ultrasound-guided extraoral aspiration of the abscess at the right masseter muscle was successful. Staphylococcus aureus was identified in the culture... |
Purpose : Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O- methyltransferase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT... |
Purpose : Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is... |
Purpose : It has been known that breast milk cause prolonged unconjugated hyperbilirubinemia. UGT1A1 is a important gene of uridine diphosphate glucuronosyltransferase (UGT) which has a major role of bilirubin metabolism. These findings suggest that there is a relationship between UGT1A1 gene mutation and prolonged jaundice of breast feeding infant. The aim of study was to investigate whether a polymorphism... |
Purpose : Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular... |
Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign pigment cell tumors of the leptomeninges. Neurocutaneous melanosis is thought to represent an error in the morphogenesis of embryonal neuroectoderm. We experienced a neonate who presented with giant, dark colored pigmented nevi covering chest, abdomen, neck and arms, with satellite... |
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a... |
Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation... |
Methods : We enrolled 504 patients out of 547 patients, who were admitted to the Department of Pediatrics, Sung-Ae and Kwangmyung Sung-Ae General Hospital from November 1996 to October 2002. They were diagnosed as M. pneumoniae pneumonia by clinical characteristics and indirect particle agglutination test of M. pneumoniae. To classify into two groups, the group specific polymerase chain reaction amplification... |
Purpose : The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in whites and its metabolic basis has not been clearly explained. Recently, UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia in Japanese and Taiwanese Chinese. We studied whether neonatal hyperbilirubinemia is associated with mutation of UGT1A1, which is a... |
Neonatal herpes simplex virus(HSV) infections result in significant morbidity and mortality. Although acyclovir treatment has improved survival, severe neurological sequelae can occur in the majority of survivors. HSV infections limited to the skin, eyes and mouth(SEM) can cause neurologic impairment. A direct correlation exists between the development of neurologic deficits and the frequency of cutaneous HSV recurrences. National Institutes of... |
Purpose : The aim of this study was to assess the diagnostic value of the 99mTc-DMSA pinhole imaging by comparing the detection rate of cortical defects identified from planar and pinhole imaging. Methods : 99mTc-DMSA planar and pinhole imaging, voiding cystoureth-rogram(VCUG), renal ultrasonography were performed in 67 patients diagnosed with urinary tract infection at the Department of Pediatrics, Sung-Ae General Hospital, from September, 1999 to... |
Cutis laxa is a rare disorder of the elastic tissue characterized by loosely hanging and folded skin giving a premature senile appearance, often with internal organ involvement. Recently, we experienced a case of cutis laxa in a neonate. The patient who presented with dyspnea and loose skin at birth was delivered by Cesarean section in our hospital. He was the... |
Neonatal alloimmune thrombocytopenia(NAIT) is a rare disease caused by maternal alloimmunization against fetal platelet surface antigen, which is mainly platelet specific alloantigen or human leukocyte antigen(HLA). During routine hemotology, we accidentally discovered thrombocytopenia in a female fullterm newborn admitted due to jaundice. We excluded NAIT due to human platelet alloantigen(HPA), because the HPA of the mother and baby were the... |
Purpose : The control of tuberculosis is seriously threatened worldwide by the recently emerging multidrug-resistant Mycobacterium tuberculosis. As a result, early detection of drug resistant M.tuberculosis strain has become very important but conventional laboratory methods are time consuming and delayed results often affect patients adversely in controlling tuberculosis. The authors studied the usefulness of the line probe assay to determine... |
We experienced a case of split hand split foot(SHSF) anomaly in a male neonate who had a deficiency of the middle finger, syndactyly of the 1st and 2nd finger and a deep median cleft in both hands. He also had a deep median cleft between 2nd and 3rd toe, syndactyly of the 1st and 2nd, 3rd and 4th toe without... |
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 : This study was performed to evaluate the polymerase chain reaction(PCR) in the diagnosis of Mycoplasma pneumoniae pneumonia in comparison with the specific antibody test. Methods : Five hundred and ten patients with pneumonia, ranging from the ages of 8 months to 15 years who were admitted in Sung-Ae and Kwangmyung Sung-Ae general hospitals from Nov. 1996 to Oct.... |
Purpose : Pleural effusions may develop during the course of bacterial pneumonia. The aim of this study was to evaluate the significance of the polymerase chain reaction(PCR) method for detection of M ycoplasma pneumoniae, M ycobaterium tuberculosis and Staphylococcus aureus from pleural fluid. Methods : Total 12 samples were obtained from pleural fluid; 2 samples from children with Mycoplasma pneumonia, 5 samples from adults with... |
The clinical significance of Yersinia pseudotuberculosis(Y. pseudotuberculosis) has recently recognized in various part of the world because it can cause a wide range of clinical problems such as mesenteric lymphadenitis, septicemia, reactive arthritis, terminal ileitis, erythema nodosum and acute renal failure. we experienced a case of acute renal failure associated with Y. pseudotuberculosis infection. We applied a nested polymerase chain reaction method for rapid diagnosis... |
Purpose : There is an urgent need for rapid and accurate diagnosis of childhood tuberculosis. Recently, developments in molecular biology have raised hopes about the possibilities of new strategies for tuberculosis diagnosis. Most of these methods have focused on the application of PCR to sputum samples from patients with suspected mycobacterial disease. We used a nested PCR to detect circuclating Mycobacterial tuberculosis DNA in... |
3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect,... |
Double aortic arch is the most common type of symptomatic vascularring. In most patients, the symptoms are manifested at birth or in early infancy. Double aortic arch usually has more severe symptoms than other types of complete vascular rings. We experienced one case of complete duplicated double aortic arch with left descending aorta and left patent ductus arteriosus. A one-day-old female neonate was transferred... |
Purpose : Urinary tract infection(UTI) in children may be cause of end stage renal failure and hypertension. So, early detection of renal scar, vesicoureteral reflux(VUR) and anomaly, and proper management are important. We carried this study to observe the significance of 24 hours urine β2-microglobulin(β2-MG) for predicting renal injury and correlation of β2-MG with the grade of VUR. Methods : We... |
The vein of Galen malformation is rare midline intracranial arteriovenous malformation that have been diagnosed more often at necropsy than in life. The majority of these malformations were seen in neonate, infancy and childhood, and the clinical symptoms and prognosis were depended on age of presentation. The authors report a case of ruptured Vein of Galen aneurysmal malformation. A... |
Goldenhar syndrome is a pattern of malformation with wide variability of expression characterized by epibulbar dermoids, preauricular appendages and pretragal blind-ended fistulas, and vertebral anomalies. We have experienced two cases of Goldenhar syndrome. In one case multiple hemivertebrae, anomalous ribs, hydrocephalus with abscence of the septum pellucidum and mild widening of the subarachnoid space were noted. Diagnosis was made by physical examination and radiological findings. A brief... |
A 9-vear-old girl presented with recurrent abdominal pain. Investigations failed to show any of the demonstrable causes of pancreatitis, but she was found to have pancreatic calcifications with the help of the plain abdominal x-ray, abdominal ultrasound and abdominal C—T scan. Pancreatic calcifications are virtually pathognomonic of chronic pancreatitis. We report this case and review related literatures briefly. |
Potter syndrome is relatively rare congenital defect in with agenesis or dysplasia of the kidney is associated with oligohydramnios, pulmonary hypoplasia, characteristic facial features and other abnormalities. The etiology is unknown. But various theories are reviewed and the suggestion is made that the cause of Potter syndrome in newborns may well be multifactorial. Among the various factors, we agree to the opinion that oligohydramnios... |
We experienced a case of nodular renal blastema which was accompanied with bilateral renal dysplasia and cytomegalic inclusion disease. The patient who was born with 38 weeks of gestational periods and had had a omphalocele since birth expired on the 30 th day of his life. Autopsy was performed to confirm the diagnosis. We reported clinical and laboratory data of this case... |