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Original Article
Jagged1 mutation analysis in Alagille syndrome patients
Jae Sung Ko, Hye Ran Yang, Kyung Mo Kim, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(5):519-522.   Published online May 15, 2006
Purpose : Alagille syndrome is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged1(JAG1) gene, which encodes a ligand of Notch, has been found mutated in Alagille syndrome. The aim of the study was to investigate the mutation analysis of JAG1 gene in Korean patients with Alagille syndrome. Methods : Genomic DNA...
Case Report
A case of acute respiratory distress syndrome treated with surfactant and low dose methylprednisolone
Bo Yeon Choi, Kyong Mo Kim, Jong Seo Yoon, Joon Sung Lee
Clin Exp Pediatr. 2006;49(4):455-459.   Published online April 15, 2006
The major pathogenesis of acute respiratory distress syndrome (ARDS) is an inflammatory process that results from a diversity of injuries to the body. Due to the various cytokines and vasoactive peptides released from the endothelium, the vascular permeability is increased; the migration of inflammatory cells and the leakage of plasma proteins then occur and edema develops in the alveolus. There...
A case of Dyke-Davidoff-Masson syndrome in Korea
Jun Hwa Lee, Zee Ihn Lee, Ho Kyun Kim, Soon Hak Kwon
Clin Exp Pediatr. 2006;49(2):208-211.   Published online February 15, 2006
Dyke-Davidoff-Masson Syndrome (DDMS) is a rare condition characterized by asymmetry of cerebral hemispheric growth with atrophy on one side, ipsilateral compensatory osseous hypertrophy, and contralateral hemiparesis. We experienced a 17 month-old male who presented with left focal clonic or tonic-clonic seizures accompanied by left hemiparesis and developmental delay. Brain MRIs demonstrated progressive atrophy of the right cerebral hemisphere with dilatation...
Development of Crohn disease in patients with myelodysplastic syndrome : report of two children
Jeong Ok Shim, Jeong Kee Seo, Hye Ran Yang, Jae Sung Ko, Hee Young Shin, Hyo Seop Ahn, Woo Sun Kim, Gyeong Hoon Kang
Clin Exp Pediatr. 2006;49(1):107-111.   Published online January 15, 2006
Crohn disease (CD) is rare, but the incidence of CD has been increasing over the past ten years. We found two cases of CD, associated with myelodysplastic syndrome (MDS), for the first time in children. In the first patient, MDS was diagnosed at three years of age and CD developed later at eight years of age. The patient presented with...
Original Article
A Cytogenetic Study in Patients with Sex Chromosome Abnormalities
Hyun Ji Seo, Ji Hye Lee, Heung Kyo Lee, Seung Hee Jung, Kun Soo Lee
Clin Exp Pediatr. 2005;48(12):1317-1323.   Published online December 15, 2005
Purpose : This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. Methods : Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital...
Serum Ferritin as a Risk Factor in Type 2 Diabetes Mellitus
Jung Hyun Kim, Ho Seong Kim, Duk Hee Kim
Clin Exp Pediatr. 2005;48(11):1239-1243.   Published online November 15, 2005
Purpose : Iron accumulation interferes with hepatic insulin extraction and affects insulin synthesis and secretion. The purpose of this study is to investigate the correlation between serum ferritin and type 2 diabetes mellitus. Methods : We compared the serum ferritin level among 18 patients in an impaired glucose tolerance (IGT) group, 36 in a type 1 diabetes group, eight in...
Clinical and Epidemiologic Study of Kawasaki Disease in Children 8 Years of Age and Older
Yong Won Park, Ji Whan Han, In Sook Park, Chang Hwi Kim, Sung Ho Cha, Jae Sook Ma, Tae Chan Kwon, Sang Bum Lee, Chul Ho Kim, Heung Jae Lee, Yong Soo Yun
Clin Exp Pediatr. 2005;48(10):1139-1142.   Published online October 15, 2005
Purpose : The aim of this study was to investigate the epidemiologic and clinical profiles of Kawasaki disease(KD) in children 8 years of age and older. Methods : For the epidemiologic study of KD in Korea, data of total 15,692 KD patients were collected from 1994 to 2002 on a 3 year basis, by the retrospective survey. Among them, data of...
A Study on the Effects of Early Surfactant Replacement and Gentle Ventilation in the Treatment of Respiratory Distress Syndrome
Yong Suk Lee, Ji Hye Lee, Sang Geel Lee
Clin Exp Pediatr. 2005;48(10):1096-1101.   Published online October 15, 2005
Purpose : Recently, early surfactant replacement and tidal volume based gentle ventilation has been a fundamental treatment of respiratory distress syndrome(RDS). The aims of this study were to survey the changes in ventilator care duration and rate of complication in RDS groups. Methods : We performed a retrospective study of 255 newborn infants less than 1,500 g admitted to the...
Comparison of Clinical Progress between Single- and Multiple-dose Surfactant Treatment in Neonatal Respiratory Distress Syndrome
Chang Hee Kil, Ho Sang Jeon, Chong Woo Bae
Clin Exp Pediatr. 2005;48(10):1090-1095.   Published online October 15, 2005
Purpose : In the case of serious respiratory distress syndrome(RDS) or relapse of clinical appearances after single treatment, we obtained more effective results with multiple-dose surfactant replacement therapy. We carried out this investigation for comparing and observing clinical progress between single-dose(group S) and multiple-dose(group M) pulmonary surfactant treatment group of neonatal RDS. Methods : We investigated 48 neonates who were...
Clinical Lecture
Can We Predict How Often Nephrotic Syndrome will Relapse into the Patients?
Mee Kyung Namgoong
Clin Exp Pediatr. 2005;48(10):1033-1037.   Published online October 15, 2005
Pediatric nephrotic syndrome is a well-known illness for its high relapsing rate. If we can predict the relapsing rate and the responses to the steroid therapy of individual patients with nephrotic syndrome, the predictability will be helpful in building a therapeutic plan. Here is my review of research articles on the risk factors for the prediction of relapsing nephrotic syndrome.
Case Report
A Case of Young-Simpson Syndrome
Ja-Young Hwang, Se-Young Seo, Seong-Hoon Hahn, So-Young Kim, Hyun-Hee Kim, Wonbae Lee
Clin Exp Pediatr. 2005;48(9):1016-1018.   Published online September 15, 2005
Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea.
Giant Coronary and Axillary Aneurysms in an Infant with Kawasaki Disease Associated with Thrombocytopenia
Sei Young Seo, Jin Hee Oh, Jong-Hyun Kim, Ji-Whan Han, Kyung-Yil Lee, Dae Kyun Koh
Clin Exp Pediatr. 2005;48(8):901-906.   Published online August 15, 2005
Kawasaki disease (KD) is a leading cause of acquired heart disease in children. Yet the etiology of KD is still unknown and diagnosis depends on the exclusion of other diseases and the clinical manifestations meeting the defined criteria. Young infants frequently show atypical clinical courses and are frequently complicated with coronary aneurysms. Some cases show thrombocytopenia, which is known as...
Original Article
Clinical Outcome and Prognostic Factors of Acute Respiratory Distress Syndrome in Children
Jung-Min Ko, Eun-Ju Ha, Eun-Hee Lee, So-Youn Lee, Hyo-Bin Kim, Soo-Jong Hong, Seong-Jong Park
Clin Exp Pediatr. 2005;48(6):599-605.   Published online June 15, 2005
Purpose : The purpose of this study was to examine the causes, clinical courses and outcomes in children with acute respiratory distress syndrome(ARDS), and evaluate the physiologic variables as prognostic factors in the patients. Methods : Retrograde medical chart review was carried out in 24 patients who were diagnosed with ARDS at the pediatric intensive care unit(PICU) during 20-month period. Results...
Case Report
A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene
Hyuk Lee, Jung In Park, Sun Young Kim,, Kyeung Hee Moon, Ho Keun Yi, Pyoung Han Hwang
Clin Exp Pediatr. 2005;48(5):551-556.   Published online May 15, 2005
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and malignancies. The phenotype observed in this syndrome is caused by mutation in the Wiskott-Aldrich syndrome protein(WASP) gene localized to the proximal short arm of the X chromosome and recently isolated...
Original Article
Statistical Analysis of 1,000 Cases of Kawasaki Disease Patients Diagnosed at a Single Institute
Dae Hwan Hwang, Kyoung Mi Sin, Kyong Min Choi, Jae Young Choi, Jun Hee Sul, Dong Soo Kim
Clin Exp Pediatr. 2005;48(4):416-424.   Published online April 15, 2005
Purpose : To find the risk factors associated with coronory artery lesions, non-responsiveness to intravenous immunoglobulin(IVIG) treatment, and recurrences in Kawasaki disease patients. Methods : We retrospectively analyzed 1,000 Kawasaki disease patients who were admitted to Yonsei University Medical Center from September 1990 to December 2003. We compared between responder and non-responder groups to IVIG treatment as well as between relapsed...
Case Report
A Case of Multiple Giant Coronary Aneurysms with Large Mural Thrombus due to Kawasaki Disease in a Young Infant
Eun Na Choi, Jeoung Tae Kim, Yuria Kim, Byung Won Yoo, Deok Young Choi, Jae Young Choi, Jun Hee Sul, Sung Kye Lee, Dong Soo Kim, Young Hwan Park
Clin Exp Pediatr. 2005;48(3):321-326.   Published online March 15, 2005
Kawasaki disease is an acute systemic vasculitis of unknown origin. Giant coronary aneurysm is one of the most serious complications, although peripheral artery vasculitis can produce life-threatening events. Myocardial ischemia and infarction can be caused by coronary artery stenosis, aneurysm, and stagnation of blood flow in coronary arteries which triggers thromboembolism. Atypical presentation in young infants often interferes with prompt...
Original Article
Factors Affecting Final Adult Height in Patients with Turner Syndrome
Jae Hyun Kim, Sung Soo Lee, Su Young Hong, Hye Rim Chung, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2005;48(2):191-196.   Published online February 15, 2005
Purpose : Short stature is one of the characteristic features of Turner syndrome. We investigated the factors affecting final adult height(FAH) in patients with Turner syndrome. Methods : The study group was comprised of 60 patients who were diagnosed with Turner syndrome by chromosomal study and clinical phenotypes and attained FAH. Data were obtained from retrospective review of the medical records....
Serum Albumin Concentrations and Clinical Disorders by Gestational Ages in Preterm Babies
Mia Lee, Soo Youn, Baek Keun Lim, Jong Soo Kim
Clin Exp Pediatr. 2005;48(2):148-153.   Published online February 15, 2005
Purpose : The aim of this study was to determine the reference ranges of serum albumin levels depending on the gestational ages of preterm infants. We also intended to compare the mean serum albumin levels between groups of preterm infants that did not develop clinical disorders later, and groups that did develop clinical disorders such as respiratory distress syndrome, intraventricular...
Case Report
A Case of Pyomyositis and Toxic Shock Syndrome Caused by Methicillin Resistant Staphylococcus aureus
Yang Kyong Kim, Dal Hyon Kim, Soon Ki Kim, Byong Kwan Son, Young Jin Hong
Clin Exp Pediatr. 2005;48(1):88-92.   Published online January 15, 2005
Pyomysitis is a primary acute bacterial infection of large skeletal muscule, usually occuring in the absence of specific cause of infection. Pyomyositis has been reported mainly in tropical countries and was rare in temperate climates. but it has been recognized with increasing frequency. Toxic shock syndrome(TSS) is an acute mutisystemic disease characterized by high fever, hypotension, multisystem dysfunction and erythematous...
A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection
Jung Hyun Lee, Eun Seok Roh, Yoo Rah Hong, Jae Sun Park, Ghi Seok Seo, Bang Hur, Mi Hyang Kim
Clin Exp Pediatr. 2004;47(12):1351-1355.   Published online December 15, 2004
Rothmund-Thomson syndrome(RTS), or poikiloderma congenita, is a rare, multisystem disorder. It is inherited genetically as an autosomal recessive trait, occurring predominantly in females(1.4 : 1). The RTS is comprised of poikiloderma, short stature, sparse hair, juvenile cataracts, skeletal defects, dystrophic teeth and nails, photosensitivity, and hypogonadism. We report a case of RTS who died of bleeding from esophageal varices, pulmonary...
A Case of Mycoplasma pneumoniae Pneumonia Complicated with Guillain-Barr Syndrome and Encephalitis
Soon Bum Lee, Hee Jung, Yong Seok Lee, Bum Sun Kwon, Jeesuk Yu
Clin Exp Pediatr. 2004;47(12):1338-1348.   Published online December 15, 2004
The most common pathogen of respiratory tract infection among school-age children and adolescents is Mycoplasma pneumoniae, which causes clinical manifestations of pneumonia, acute asthmatic attack, pharygitis, and tonsilitis. It can also cause extrapulmonary infections that involves skin, the nervous system, the digestive system, the cardiovascular system, and the hematopoietic system. It is reported that the central nervous system symptoms may...
A Case of Jarcho-Levin Syndrome with Intrathoracic Kidney
Shin Yun Byun, Myoung Hwa Sung, Jung Mi Choi, Tae Hong Kim, Kyu Geun Hwang, Jin A Jung
Clin Exp Pediatr. 2004;47(11):1225-1227.   Published online November 15, 2004
In 1938, Jarcho and Levin initially described shortening of the trunk, prominent occiput, broad forehead, multiple vertebral defects and ribs anomaly, short neck, increased anteroposterior chest diameter, lordosis, kyphoscoliosis. After that, Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes. We examined a girl who was suspected as suffering from Jarcho-Levin syndrome because...
A Case of Fetal Alcohol Syndrome with Persistent Pulmonary Hypertension of the Newborn
Jin-Ha Chang, Ran Namgung, Min-Soo Park, Kook In Park, Jin-Sung Lee, Chul Lee
Clin Exp Pediatr. 2004;47(11):1220-1224.   Published online November 15, 2004
Fetal alcohol syndrome can be suspected in infants born to mothers with a prenatal history of alcohol abuse if the child exhibits characteristic facial features, together with intrauterine growth retardation, multiple neurological abnormalities, and multiorgan defects. If only a few of the above criteria are satisfied, the term fetal alcohol effects is used. We experienced a neonate who presented with...
A Case of Weaver Syndrome
Jun Chul Byun, Chun Soo Kim, Sang Lak Lee, Tae Chan Kwon, Hee Jung Lee
Clin Exp Pediatr. 2004;47(11):1216-1219.   Published online November 15, 2004
Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations were macrocephaly, unusal facies, simian crease, clinodactyly, decreased muscle tone, accelerated bone age and congenital heart diseases. We report this with a brief review of related literature.
Original Article
Prevalence of Metabolic Syndrome in Obese Children
Jin Ha Chang, Duk Hee Kim, Ho-Seong Kim, In Kyoung Choi, My Young Cheong, Dong Kee Kim
Clin Exp Pediatr. 2004;47(11):1149-1156.   Published online November 15, 2004
Purpose : Obesity has been known to be a cause of insulin resistance and dyslipidemia, and along with coronary artery disease and diabetes, is associated with metabolic syndrome(MS). This study aimed to ascertain the cause and prevalence of MS in obese children and adolescents. Methods : Two hundred and seventy-seven school children, who showed more than a 95th percentile of body...
Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome
Kyu Young Chae, Jin Hee Han, Ji Yeong Seo, Min Jung Cho, Sehyun Kim, Nam Keun Kim
Clin Exp Pediatr. 2004;47(10):1053-1057.   Published online October 15, 2004
Purpose : The C677T polymorphism of the methylenetetrahydrofolate reductase(MTHFR) has been suggested as a risk factor of maternal meiotic nondisjunction for Down syndrome. Recently, a second genetic polymorphism in MTHFR at position 1298 was reported. However, a positive association between the A1298C MTHFR polymorphism and Down syndrome has not been reported. Therefore, this study was undertaken to determine which polymorphism...
Case Report
Isolated Intracranial Granulocytic Sarcoma as a Relapse Following Unrelated Bone Marrow Transplantation for Myelodysplastic Syndrome in a 1 Year-Old Infant
Kyung Ran Son, Hoon Kook, So Youn Kim, Hee Jo Back, Seok Joo Kim, Ha Young Noh, Mi Jeong Kim, Ic Sun Choi, Shin Jeong, Jong Hee Nam, Tai Ju Hwang
Clin Exp Pediatr. 2004;47(9):1008-1012.   Published online September 15, 2004
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...
Original Article
Surfactant Therapy for Neonatal Respiratory Distress Syndrome : Experience in Korea Over 15 Years
Chong-Woo Bae, Young-Min Kim
Clin Exp Pediatr. 2004;47(9):940-948.   Published online September 15, 2004
Purpose : Surfactant replacement therapy in neonates with respiratory distress syndrome(RDS) has been used in Korea since 1990. We undertook a collective study of trials from multi-hospitals to evaluate results of neonates with RDS who were treated with surfactant during the past 15 years in Korea(Period I, P-I, 1990-91; Period II, P-II, 1996; Period-III, P-III; 2002). Methods : There were 60...
Case Report
A Case of Shwachman-Diamond Syndrome
Jeong Won Kwak, Suk Kim, Young Tak Lim
Clin Exp Pediatr. 2004;47(8):900-903.   Published online August 15, 2004
Shwachman-Diamond syndrome(SD syndrome) is a rare genetic disorder chracterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. Exocrine pancreatic insufficiency and neutropenia are the main components of the syndrome. A hallmark of SD syndrome is varying severity of pancreatic dysfunction due to acinar maldevelopment. The hematologic abnormalities associated with SD syndrome include varying cytopenias, marrow aplasia, myelodysplasia...
Two Cases of Rotor Syndrome in Siblings
Hwa-Jin Park, Eun-Sung Kim, Ji-Young Chung, Sung-Ho Cha, Deog-Yoon Kim
Clin Exp Pediatr. 2004;47(8):892-895.   Published online August 15, 2004
Rotor syndrome is a rare benign familial disorder characterized by chronic, fluctuating, nonhemolytic and predominantly direct bilirubinemia with normal liver tissue. We have recently experienced two cases of Rotor syndrome in a brother and sister. They revealed icteric sclerae with mild hepatomegaly in physical examination. Laboratory findings showed increased serum bilirubin with direct bilirubin predominance. The urinary excretion of total...
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