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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...
Bronchiolitis Obliterans Associated with Stevens-Johnson Syndrome
Ko Un Chun, Soo Yun, Byung Ho Cha, Hae Yong Lee
Clin Exp Pediatr. 2004;47(7):803-806.   Published online July 15, 2004
Bronchiolitis Obliterans(BO) is one of the rare inflammatory lung disease that primarily affects bronchi and bronchioles, followed by partial or complete obstruction. In children, the etiology of BO has been under consideration, but infections and toxic inhalation, connective tissue diseases, lung transplantation, congestive pulmonary edema, etc., may be causes of BO. Even though steroid therapy was reported as an effective...
A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age
Young Won An, Mi Jin Jung, Jee Suk Yu, Young Seok Lee, Han Wook Yoo
Clin Exp Pediatr. 2004;47(7):794-798.   Published online July 15, 2004
The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our...
Original Article
Methylenetetrahydrofolate Reductase(MTHFR) Gene Expression in Kawasaki Disease
Hye Ryung Choi, Ae Ra Joo, Hae Soon Kim, Sejung Sohn, Young Mi Hong
Clin Exp Pediatr. 2004;47(7):774-778.   Published online July 15, 2004
Purpose : Hyperhomocysteinemia is known as an independent risk factor for cardiovascular diseases such as atherosclesosis and myocardiac infarct. A common mutation in 5, 10-methylenetetrahydrofolate reductase(MTHFR) gene results in a valine for alanine substitution, which makes enzyme thermolabile and reduces enzymal activity. We examined the relation of MTHFR genetic mutation and Kawasaki disease. Methods : We extracted DNA from the peripheral...
Association between the Human Surfactant Protein-A(SP-A) Gene Locus and Respiratory Distress Syndrome in Korean Neonates
Jae Hoon Choe, Myung Ho Oh, Jung Ho Ko, Sun Young Kim, In Kyu Lee, Chong Woo Bae
Clin Exp Pediatr. 2004;47(7):735-739.   Published online July 15, 2004
Purpose : Respiratory distress syndrome(RDS) is caused by a deficiency of pulmonary surfactant, which is a lipoprotein complex. Both low levels of surfactant protein A(SP-A) and SP-A alleles have been associated with RDS. However, the genes underlying susceptibility to RDS are insufficiently known. The candidate-gene approach was used to study the association between the SP-A gene locus and RDS in...
Diagnostic Approach of Wiskott-Aldrich Syndrome
Dong Jin Hwang, Jun Won Yang, Sun Young Kim, Ho Keun Yi, Dae Yeol Lee, Pyoung Han Hwang
Clin Exp Pediatr. 2004;47(7):726-734.   Published online July 15, 2004
Objective : A probable diagnosis of Wiskott-Aldrich syndrome(WAS) should be considered in any boy presenting with unusual bleeding, congenital thrombocytopenia and small platelets. The definitive diagnosis of WAS is usually made by the detection of WASP gene mutation or a decrease or absence of the WAS protein(WASP) in blood cells using molecular genetic analysis. However, these methods are too time-consuming...
Matrix Metalloproteinases, Tissue Inhibitors and Cytokines in Patients with Kawasaki Disease
Ae Ra Cho, Young Mi Hong
Clin Exp Pediatr. 2004;47(6):656-664.   Published online June 15, 2004
Purpose : Kawasaki disease(KD) is a multisystemic inflammatory vasculitis of unknown etiology, but immunological abnormalities have been documented and implicated in the pathogenesis of KD. Matrix metalloproteinases(MMPs) have proteolytic activity against connective tissue proteins, and increased activity of MMPs and a quantitative imbalance between MMP and tissue inhibitor of MMP (TIMP) can result in several pathologic conditions. MMP and TIMP...
Comparison of Cytokine Expressions among Kawasaki Disease and Its Symptom-related Diseases
Ran Lee, So Hyun Park, Yu Jeong Kim, So Young Kim, Hyun Hee Kim, Wonbae Lee
Clin Exp Pediatr. 2004;47(5):567-573.   Published online May 15, 2004
Purpose : Kawasaki disease(KD) is an important acute febrile systemic vasculitis disease. Various cytokines have been studied to evaluate the pathogenesis of vascular injury. Some cytokines have been implicated for vascular injury, but there has been no direct evidence. We compared cytokine profiles of KD with Henoch-Sch nlein purpura(HSP), and febrile infections. Methods : We investigated the serum concentrations of...
Cause and Prognosis of Pediatric Acute Respiratory Failure by Intrapulmonary Lesion
Hye-Young Lee, Ji-Suk Park, Hee-Ra Choi, Ji-Hyun Seo, Jeum-Su Kim, Jae-Young Lim, Myoung-Bum Choi, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2004;47(5):555-560.   Published online May 15, 2004
Purpose : Respiratory failure arises from derangements in pulmonary gas exchange. The causes may be classified as due to either lung disease or respiratory pump dysfunction. Problems with lung mechanics is an important cause of acute respiratory failure in children clinically. The aims of this study were to survey the cause and prognosis of children diagnosed with acute respiratory failure...
Prevention of Chronic Lung Disease with Early Dexamethasone Treatment in less than 32 Weeks Premature : Randomized Controlled Study
So Yun Shim, Su Jin Cho, Eun Ae Park
Clin Exp Pediatr. 2004;47(5):521-526.   Published online May 15, 2004
Purpose : The optimal timing and the consequences of dexamethasone therapy in chronic lung disease remain unknown. The purpose of this study was to determine whether early dexamethasone therapy would reduce the incidence of chronic lung disease and to determine the adverse effects and complications of prematurity associated with such therapy. Methods : Twenty neonates with hyaline membrane disease(dexamethasone n=10, placebo...
The Effect of Post-natal Weight Changes on the Development of Bronchopulmonary Dysplasia in Infants with Respiratory Distress Syndrome
Hye One Jhon, Young Min Kim, Hee Joo Hong, Chong Woo Bae
Clin Exp Pediatr. 2004;47(3):269-274.   Published online March 15, 2004
Purpose : The subjects were compared and measured for differences in the aspects of weight changes between the groups that developed bronchopulmonary dysplasia(BPD) after treatment and those that did not, to analyze the relations between the patterns of early weight change after birth and the development of BPD. Methods : Retrospective analysis of medical records were performed for birth weight and...
The Effect of Histologic Chorioamnionitis on the Development of Respiratory Distress Syndrome and Chronic Lung Disease in Preterm Infants
Heui seung Jo, Beyong Il Kim, Chang Won Choi, Jun Dong Park, Chong Jai Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2004;47(2):150-156.   Published online February 15, 2004

Purpose: Histologic chorioamnionitis may play a role in the development of respiratory distress syndrome(RDS) and chronic lung disease(CLD) independently or through its association with preterm birth. We investigated the relationship between histologic chorioamnionitis and clinical complications including, RDS and CLD, of preterm infants. Methods: Clinical data were collected retrospectively from 478 preterm infants(gestational period≤34 weeks) who were admitted to the neonatal...
Case Report
Atypical Hemolytic Uremic Syndrome Associated with Streptococcus pneumoniae Infection
Hyun Sug Lee, Ja Wook Koo, Sang Woo Kim, Hyun Soon Lee
Clin Exp Pediatr. 2004;47(2):217-222.   Published online February 15, 2004
Hemolytic uremic syndrome is the most common cause of acute renal failure in childhood. Atypical hemolytic uremic syndrome which is not usually associated with prodromal symptoms has a higher mortality rate and more tendency to progress to chronic renal failure. Children younger than two years of age are a more susceptible to pneumococcal infection and can develop more serious disease....
Original Article
Pharmacokinetics of Cyclosporine A and Its Therapeutic Effect in Children with Renal Diseases
Woo Sung Chun, Min-Soo Park, Jae Seung Lee, Juyun Yu, Moon Sung Park, Ki-Soo Pa
Clin Exp Pediatr. 2004;47(2):193-203.   Published online February 15, 2004
Purpose : To know the body handling properties and anti-proteinuric effect of cyclosporine A(CsA) in children with renal diseases, 34 patients with nephrotic syndrome or glomerular diseases were included to treatment trials and evaluated. Methods : Microemulsion formula CsA, 5 mg/kg/day was administered orally in two divided doses for 9.3?.6 months. Pharmacokinetic studies of CsA were done twice at beginning and...
Case Report
Four Cases of Staphylococcal Scalded Skin Syndrome
Chul Han Park, Yoo Jin Jeong, Won Jung Choi, Sat Byul Park, Heung Sik Kim, Chin Moo Kang
Clin Exp Pediatr. 2004;47(1):106-110.   Published online January 15, 2004
Staphylococcal scalded skin syndrome is a systemic disease with a clinical spectrum ranging from subcorneal pustules, patterned exfoliation to extensive erosion and peeling of skin by the exfoliative toxin of group II Staphylococcus aureus. This disease occurs mainly in infancy and children below five years and it isn't easy to differentiate from other vesicular diseases clinically, but skin biopsy shows...
A Case of Congenital Megacystis Due to Non-Obstructive Urinary Retention Associated with Intestinal Malrotation and Hypoperistalsis
Tai Young Ham, Jeong Hoon Kim, Ji Hong Kim, Jae Seung Lee, Seok Ju Han, Choon Sik Yoon, Soon Won Hong
Clin Exp Pediatr. 2004;47(1):95-99.   Published online January 15, 2004
Congenital megacystis with bilateral hydroureteronephrosis is most commonly associated with posterior urethral valves, prune-belly syndrome, vesicoureteral reflux, or nonrefluxing, nonobstructive megaureters. Among the other cause of congenital megacystis, megacystis-microcolon-intestinal hypoperistalsis syndrome(MMIHS), which is characterized by megacystis, microcolon and hypoperistalsis of the intestines with resultant abdominal distension, is a rare cause of functional obstruction of urinary tracts in childhood. It was...
Original Article
A Study on the Effects of the Early Use of Nasal CPAP in the Weaning of Mechanical Ventilators
Yeoung Ju Kim, Byun Kyung Jung, Sang Geel Lee
Clin Exp Pediatr. 2003;46(12):1200-1206.   Published online December 15, 2003
Purpose : This study was conducted for the use of nasal continuous positive airway pressure (CPAP), by comparing the early use of non-invasive nasal CPAP with low intermittent mandatory ventilation(low IMV) and endotracheal CPAP in weaning a mechanical ventilator from infants with moderate respiratory distress syndrome(RDS). Methods : Thirty infants in the study group, with moderate RDS from November 2001 to...
Case Report
A Case of Keratitis, Ichthyosis and Deafness(KID) Syndrome
Lan Kim, Dong Hwan Lee
Clin Exp Pediatr. 2003;46(11):1135-1138.   Published online November 15, 2003
KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who described one of his patients with those symptoms. In 1981, Dr. Skinner and his colleagues reported 17 patients who had keratitis, ichthyosis, and deafness. They also called the disease KID...
Original Article
Comparison of Clinical Courses According to the Existence of Patent Ductus Arteriosus in Respiratory Distress Syndrome
Ju Hee Seong, Hyeon Joo Lee, Hyun Kee Hong, Chong-Woo Bae, Yong-Mook Choi
Clin Exp Pediatr. 2003;46(11):1080-1084.   Published online November 15, 2003
Purpose : To compare perinatal characteristics, clinical courses, and overall morbidity between respiratory distress syndrome(RDS) with patent ductus arteriosus(PDA) and RDS without PDA in neonates. Methods : Eighty-three neonates who were diagnosed and treated for RDS in the neonatal intensive care unit(NICU) from Jan. 2000 to Dec. 2002 were included in this study. RDS was complicated with PDA(group A) in...
Case Report
A Case of Sandifer Syndrome
Mira Lee, Soo Hyun Kim, Yong Joo Kim, In Joon Seol
Clin Exp Pediatr. 2003;46(10):1036-1039.   Published online October 15, 2003
Sandifer syndrome is a rare manifestation of gastroesophageal reflux in children, occurring in association with abnormal movement of the head and neck and recurrent episodes of seizure after feeding. This syndrome may be misdiagnosed as infantile seizure and musculoskeletal disorder and may be associated with failure to thrive, anemia, aspiration pneumonia, and esophagitis. In this paper, Sandifer syndrome in a...
Original Article
Heart Rate Variability and Autonomic Activity in Patients Affected with Rett Syndrome
Deok Young Choi, Jin Ha Chang, Hee Jung Chung
Clin Exp Pediatr. 2003;46(10):996-1002.   Published online October 15, 2003
Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate...
Case Report
A Case of Klippel-Trenaunay Syndrome Combinded with Sturge-Weber Syndrome
Mi Young Kim, So Young Lee, Na Yeon Kim, Sun Ju Lee, Won Duck Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 2003;46(9):909-912.   Published online September 15, 2003
Klippel-Trenaunay syndrome is a rare mesodermal phakomatosis characterized by cutaneous haemangiomata(usually unilateral and involving an extremity), venous varicosities and osseous and soft tissue hypertrophy, of the affected limb. Sturge-Weber syndrome, also a mesodermal pharkomatosis, is characterized by a port-wine nevus, which is present from birth and covers the face and cranium in the territory of the first division of the...
Original Article
Risk Factors for the First-Year Relapse in Children with Nephrotic Syndrome
Hye Kyoung Shin, Ji Hee Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2003;46(9):889-892.   Published online September 15, 2003
Purpose : This study aimed to evaluate risk factors of the first year relapse in children with nephrotic syndrome(NS) without the need for biopsy. Methods : We reviewed, retrospectively, 78 children diagnosed with steroid responsive nephrotic syndrome between July 1997 and June 2002. Median years to follow up were 4.4 years(range : 1-5 years). We divided the patients into two groups(group...
Correlation between Chest Radiographic Findings and Respiratory Indices in Neonates with Respiratory Distress Syndrome
Yong-Hwan Chung, Youn-Jin Park, Chong-Woo Bae, Dong-Wook Sung
Clin Exp Pediatr. 2003;46(7):655-660.   Published online July 15, 2003
Purpose : The relationship between chest X-ray findings and respiratory indices, including the arterial-alveolar oxygen partial pressure ratio(a/APO2) and the ventilatory index(VI), indicators of the clinical respiratory status in neonates with respiratory distress syndrome(RDS), was examined in the present study. Methods : The records of 50 neonates, randomly chosen from 174 neonates treated with pulmonary surfactant(PS) in the Neonatal Intensive Care...
Case Report
A Case of Goltz Syndrome
Dong Hoon Lee, Chul Han Park, Ji Min Park, Set Byul Park, Heung Sik Kim, Young Wook Ryoo, Kyu Suk Lee, Hee Jung Lee
Clin Exp Pediatr. 2003;46(6):606-609.   Published online June 15, 2003
Goltz syndrome(focal dermal hypoplasia) is a rare disorder characterized by ectodermal and mesodermal dysplasia described in 1962 by Goltz. In Korea, one case of Goltz syndrome was reported in 1994. The inheritance mode is mostly X-linked dominant. Skin abnormality is the most common manifestation including hypoplasia of the dermis. Skeletal involvement such as syndactyly, polydactyly, scoliosis, kyphosis and spina bifida...
A Case of Lesch-Nyhan Syndrome
Joon-Sung Kim, Jae-Seung Lee, Ha-Young Noh, Byung-Ju Kim, Young-Jong Woo, Jee-Min Park, Myung-Gwan Kim, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2003;46(5):505-509.   Published online May 15, 2003
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic...
Five Cases of Shaken Baby Syndrome
Ok Yeon Cho, Kwon Hoe Huh, Do Jun Cho, Dug Ha Kim, Ki Sik Min, Ki Yang Yoo, Yul Lee
Clin Exp Pediatr. 2003;46(4):404-408.   Published online April 15, 2003
Shaken baby syndrome is a serious form of child abuse, mostly involving children younger than 2 years. It results from extreme rotational cranial acceleration induced by violent shaking. The characteristic injuries include subdural hemorrhage, retinal hemorrhage, and fracture of ribs or long bones. If physicians have no recognition of, or suspicion about, shaken baby syndrome, this syndome is difficult to...
A Case of Netherton's Syndrome in a Newborn
Eun-Hee Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim, Beom-Jin Cho, Jai-Kyoung Koh, Soo-Young Pi
Clin Exp Pediatr. 2003;46(4):389-392.   Published online April 15, 2003
Netherton's syndrome is an unusual disorder which consists of triad of ichtyosiform dermatosis, multiple defects of hair shaft and an atopic diathesis. The finding of bamboo hair is pathognomic in Netherton's syndrome and the ichthyosiform dermatosis may consist of either ichtyosis linearis circumflexa or congenital ichthyosiform erythroderma. Often, variability in the clinical features leads to a delay in diagnosis in...
A Case of Townes-Brocks Syndrome
Hong Seop So, Hyun Ju Choi, Hye Sun Yoon, Jin Soon Hwang, Keun Chan Sohn
Clin Exp Pediatr. 2003;46(4):382-384.   Published online April 15, 2003
Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral...