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Review Article
Obstructive sleep apnea syndrome in children: Epidemiology, pathophysiology, diagnosis and sequelae
Sun Jung Chang, Kyu Young Chae
Clin Exp Pediatr. 2010;53(10):863-871.   Published online October 31, 2010

The prevalence of pediatric obstructive sleep apnea syndrome (OSAS) is approximately 3% in children. Adenotonsillar hypertrophy is the most common cause of OSAS in children, and obesity, hypotonic neuromuscular diseases, and craniofacial anomalies are other major risk factors. Snoring is the most common presenting complaint in children with OSAS, but the clinical presentation varies according to age. Agitated sleep with...

Case Report
A case of Kawasaki disease with coexistence of a parapharyngeal abscess requiring incision and drainage
Se Hyun Choi, Hyun Jung Kim
Clin Exp Pediatr. 2010;53(9):855-858.   Published online September 13, 2010

Kawasaki disease (KD) causes multisystemic vasculitis but infrequently manifests with deep neck infections, such as a peritonsillar abscess, peritonsillar or deep neck cellulitis, suppurative parapharyngeal infection, or retropharyngeal abscess. As its etiology is still unknown, the diagnosis is usually made based on typical symptoms. The differential diagnosis between KD and deep neck infections is important, considering the variable head and...

A case of Bartter syndrome type I with atypical presentations
Eun Hye Lee, Ju Sun Heo, Hyun Kyung Lee, Kyung Hee Han, Hee Gyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2010;53(8):809-813.   Published online August 31, 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset...

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

A case of anemia caused by combined vitamin B12 and iron deficiency manifesting as short stature and delayed puberty
Seung Min Song, Keun Wook Bae, Hoi-Soo Yoon, Ho Joon Im, Jong-Jin Seo
Clin Exp Pediatr. 2010;53(5):661-665.   Published online May 31, 2010

Anemia caused by vitamin B12 deficiency resulting from inadequate dietary intake is rare in children in the modern era because of improvements in nutritional status. However, such anemia can be caused by decreased ingestion or impaired absorption and/or utilization of vitamin B12. We report the case of an 18-year-old man with short stature, prepubertal sexual maturation, exertional dyspnea, and severe...

A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
Ji-man Kang, Jungmun Suh, Jihyun Kim, Hee-Jin Kim, Yae-jean Kim, Hun Seok Lee, Young Kee Shin, Kangmo Ahn, Sang-Il Lee
Clin Exp Pediatr. 2010;53(4):592-597.   Published online April 15, 2010
Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent...
Original Article
Apoptosis and upregulation of TNF-α and TRAIL receptor 1 (DR4) in the pathogenesis of food protein-induced enterocolitis syndrome
Jin-Bok Hwang, Sang Pyo Kim, Yu Na Kang, Seong-Ryong Lee, Seong-Il Suh, Taeg Kyu Kwon
Clin Exp Pediatr. 2010;53(4):525-531.   Published online April 15, 2010
Purpose : Expression levels of tumor necrosis factor (TNF)-α expression on the mucosa of the small intestine is increased in patients with villous atrophy in food protein-induced enterocolitis syndrome (FPIES). TNF-α has been reported to induce apoptotic cell death in the epithelial cells. We studied the TNF family and TNF-receptor family apoptosis on the duodenal mucosa to investigate their roles in the pathogenesis...
Case Report
A case of steroid-induced psychosis in a child having nephrotic syndrome with toxic epidermal necrolysis
Sae Yoon Kim, Jae Min Lee, Yong Hoom Park
Clin Exp Pediatr. 2010;53(3):437-441.   Published online March 15, 2010
Toxic epidermal necrolysis (TEN) and Stevens–Johnson syndrome (SJS) are rare, life-threatening mucocutaneous diseases, usually attributable to drugs and infections. Corticosteroids have been used in the management of TEN for the last 30 years. This remains controversial and is still much debated. TEN can occur despite administration of high doses of systemic corticosteroids. The psychiatric side effects of corticosteroids can include...
A case of atypical hemolytic uremic syndrome as an early manifestation of acute lymphoblastic leukemia
Dong Kyun Han, Hee Jo Baek, Young Kuk Cho, Chan Jong Kim, Myung Geun Shin, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2010;53(2):253-257.   Published online February 15, 2010
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children younger than 4 years and is characterized by microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. HUS associated with diarrheal prodrome is usually caused by Shiga toxin-producing Escherichia coli O157:H7 or by Shigella dysenteriae, which generally has a better outcome. However, atypical cases show a...
Anomalous origin of left coronary artery arising from the right coronary cusp presenting with chest discomfort and syncope on physical exercise
Ran Baik, Nam Kyun Kim, Han Ki Park, Young Hwan Park, Byung Won Yoo, Jae Young Cho
Clin Exp Pediatr. 2010;53(2):248-252.   Published online February 15, 2010
Anomalous origins of coronary arteries are a rare type of disease among children. These anomalies can be categorized into 3 types according to the anatomical relationship of the aorta and pulmonary trunks. Among these types, the interarterial type, as observed in our case, needs early diagnosis and treatment, because it can increase the risk for the patient, causing sudden cardiac...
Original Article
Acoustic variations associated with congenital heart disease
Jung Eun Oh, Yoon Mi Choi, Sun Jun Kim, Chan Uhng Joo
Clin Exp Pediatr. 2010;53(2):190-194.   Published online February 15, 2010
Purpose : To investigate the nature of deviant voice physiology in preoperative children with congenital heart disease. Methods : Ninety-four children with congenital heart disease were enrolled. Their cries and related acoustic variables (fundamental frequency, duration, noise to harmonic ratio, jitter¢¬ and shimmer) were analyzed using a multi-dimensional voice program. Results : The average fundamental frequency showed a significant decrease in patent...
Ocular manifestations in Leigh syndrome
Kyo Ryung Kim, Suk Ho Byeon, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim
Clin Exp Pediatr. 2010;53(2):163-166.   Published online February 15, 2010
Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods : Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically...
Clinical disease characteristics according to karyotype in Turner syndrome
Chae Young Yeo, Chan Jong Kim, Young Jong Woo, Dae Yeol Lee, Min Sun Kim, Eun Young Kim, Jong Duck Kim
Clin Exp Pediatr. 2010;53(2):158-162.   Published online February 15, 2010
Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals...
Regional outbreak of staphylococcal scalded skin syndrome in healthy children
Hyun Jeong Do, Eun Sil Park, Jae Young Lim, Chan Hoo Park, Hyang Ok Woo, Hee Shang Youn, Ji Hyun Seo
Clin Exp Pediatr. 2010;53(1):48-55.   Published online January 15, 2010
Purpose : Staphylococcal scalded skin syndrome (SSSS) is a relatively uncommon superficial blistering skin disease that is due to Staphylococcus aureus. We had experienced a regional outbreak of SSSS over 3 years in healthy children. Methods : We retrospectively reviewed the medical records of those patients diagnosed as SSSS. Most of neonatal cases were nosocomial infections and excluded from the...
Comparative study on effects of volume-controlled ventilation and pressure-limited ventilation for neonatal respiratory distress syndrome
Jae Jin Kim, Mun Jung Hwang, Sang Geel Lee
Clin Exp Pediatr. 2010;53(1):21-27.   Published online January 15, 2010

Purpose:In contrast with traditional time-cycled, pressure-limited ventilation, during volume-controlled ventilation, a nearly constant tidal volume is delivered with reducing volutrauma and the episodes of hypoxemia. The aim of this study was to compare the efficacy of pressure-regulated, volume controlled ventilation (PRVC) to Synchronized intermittent mandatory ventilation (SIMV) in VLBW infants with respiratory distress syndrome (RDS). Methods : 34 very low birth...
Review Article
Neonatal respiratory distress: recent progress in understanding pathogenesis and treatment outcomes
So Young Kim
Clin Exp Pediatr. 2010;53(1):1-6.   Published online January 15, 2010
Transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), and persistent pulmonary hypertension (PPHN) are the three most common disorders that cause respiratory distress after birth. An understanding of the pathophysiology of these disorders and the development of effective therapeutic strategies is required to control these conditions. Here, we review recent papers on the pathogenesis and treatment of neonatal...
Case Report
The first Korean case of poland-Möbius syndrome associated with dextrocardia
Jiyoung Jung, Han Gyu Kim, Hae-Mi Ahn, Su Jin Cho, Eun Ae Park
Clin Exp Pediatr. 2009;52(12):1388-1391.   Published online December 15, 2009
Poland syndrome is characterized by unilateral absence or hypoplasia of the pectoralis muscle and variable degree of ipsilateral hand anomalies. Möbius syndrome is a congenital neurological disorder characterized by complete or partial facial paralysis. Although the pathogeneses of these diseases are not well-characterized, diminished blood flow to the affected side is thought to play a role. A male infant weighing...
Original Article
Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome
Hee Yeon Cho, Hyun Jin Choi, So Hee Lee, Hyun Kyung Lee, Hee Kyung Kang, Il Soo Ha, Yong Choi, Hae Il Cheong
Clin Exp Pediatr. 2009;52(11):1260-1266.   Published online November 15, 2009
Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment...
Case Report
A case of persistent pulmonary hypertension of the newborn: Treatment with inhaled iloprost
Yoon Young Jang, Hye Jin Park
Clin Exp Pediatr. 2009;52(10):1175-1180.   Published online October 15, 2009
We report a case of a full-term neonate with persistent pulmonary hypertension who developed asphyxia after birth and was treated with iloprost. The neonate had persistent hypoxia and did not respond to supportive treatment. Because inhaled nitric oxide (iNO) was not available in our hospital, inhaled iloprost was administered via an endotracheal tube. This resulted in an immediate elevation of...
Partial trisomy of chromosome 18q11.2-q12: A case report
Ah Ra Cho, Hye Ryoun Kim, Mi Kyung Lee, Sin Weon Yun, Jung Ju Lee
Clin Exp Pediatr. 2009;52(10):1171-1174.   Published online October 15, 2009
Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is...
Original Article
Metabolic syndrome in the overweight and obese adolescents and the impact of obesity on the cardiovascular system
Yong Mi Hong, Young Young Song, Hae Soon Kim, Hae Sook Park, Jung Hae Min, Jo Won Jung, Nam Soo Park, Chung Il Noh
Clin Exp Pediatr. 2009;52(10):1109-1118.   Published online October 15, 2009
Purpose : Metabolic syndrome (MS), characterized by obesity and insulin resistance, elicits risk factors such as hyperlipidemia, hypertension, and glucose intolerance with additive effects on atherosclerosis, leading to cardiovascular diseases. The purposes of this study were to evaluate the prevalence of MS among overweight and obese adolescents and to investigate the impact of obesity on the cardiovascular system. Methods : In...
Case Report
Two adolescent cases of Fitz-Hugh-Curtis syndrome
Ji Hye Kim, Sung Hee Oh
Clin Exp Pediatr. 2009;52(9):1038-1043.   Published online September 15, 2009
Two adolescent cases of Fitz-Hugh-Curtis syndrome, which has not been previously reported in Korean girls, presenting with right upper-quadrant abdominal pain, nausea, vomiting, and fever are reported here. A careful and thorough inquiry into the sexual history of the first patient, which was not done upon admission, led to a careful reassessment of the dynamic abdominal computed tomography scan revealing...
A case of adolescent Kawasaki disease with Epstein-Barr virus-associated infectious mononucleosis complicated by splenic infarction
Byeong Sam Choi, Bo Sang Kwon, Gi Beom Kim, Yoon Kyung Jeon, Jung-Eun Cheon, Eun Jung Bae, Chung Il Noh, Jung Yun Choi, Yong Soo Yun
Clin Exp Pediatr. 2009;52(9):1029-1034.   Published online September 15, 2009
Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology that affects children. There are few reports that describe the Epstein-Barr virus (EBV) as the possible infectious agent of KD. Here, we describe a case of KD in a 15- year-old boy complicated with giant coronary artery aneurysms, pericardial effusion, and splenic infarction. The clinical course of KD was...
Original Article
Comparison and analysis of the effectiveness to high dose of aspirin and ibuprofen in acute phase of Kawasaki disease
Seung-woon Keum, Yeon Kyun Oh, Jong Duck Kim, Seung-taek Yu
Clin Exp Pediatr. 2009;52(8):930-937.   Published online August 15, 2009

Purpose:We evaluated the effectiveness of treatment and cardiac complications of replacing a high dose of aspirin with a high dose of ibuprofen for children in acute phase of Kawasaki disease. We also analyzed the possibility of replacing a high dose of aspirin with a high dose of ibuprofen to prevent complications such as Reye s syndrome caused by aspirin. Methods:One hundred eight children...
Growth responses to growth hormone therapy in children with attenuated growth who showed normal growth hormone response to stimulation tests
Jae Hyun Kim, Hey Rim Chung, Young Ah Lee, Sun Hee Lee, Ji Hyub Kim, Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2009;52(8):922-929.   Published online August 15, 2009

Purpose:The aim was to investigate the clinical characteristics and responses to growth hormone (GH) therapy in children with attenuated growth who showed normal GH responses to GH stimulation tests (GHST). Methods:The study included 39 patients with height velocity (HV) of less than 4 cm/yr and normal GHST results. Clinical characteristics of patients were analyzed retrospectively. Results:Eleven were born as small for gestational age (SGA)...
Review Article
Metabolic syndrome in children and adolescents
Young Mi Hong
Clin Exp Pediatr. 2009;52(7):737-744.   Published online July 15, 2009
Metabolic syndrome (MS) in children and adolescents has become a global public health problem. MS among Korean children and adolescents has been increasing significantly over the past decade. This paper aims to provide the currently available information on the MS in children and adolescents. This review focuses on the definition, diagnostic criteria, epidemiology and pathophysiology which may be helpful for...
Case Report
Two cases of Smith-Magenis syndrome
Seong Kwan Jung, Kyu Hee Park, Hae Kyung Shin, So Hee Eun, Baik-Lin Eun, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Sook Young Bae
Clin Exp Pediatr. 2009;52(6):701-704.   Published online June 15, 2009
SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral...
Review Article
Eosinophil disorders
Sun Young Kim
Clin Exp Pediatr. 2009;52(6):643-648.   Published online June 15, 2009
Blood eosinophilia can be classified as either familial or acquired. Familial eosinophilia is a rare autosomal dominant disorder characterized by a stable eosinophil count. Acquired eosinophilia is classified further into a primary or secondary phenomenon depending on whether eosinophils are considered integral to the underlying disease. Primary eosinophilia is considered clonal in the presence of either a cytogenetic abnormality or...
Case Report
Two cases of Kawasaki disease following pneumonia
Hyun Jung Kim, Soo Jin Lee
Clin Exp Pediatr. 2009;52(5):615-618.   Published online May 15, 2009
Kawasaki disease (KD) causes multisystemic vasculitis but rarely manifests with pulmonary symptoms. As its etiology is still unknown, there are no specific diagnostic tools available, and KD can be diagnosed only by the symptom pattern. The presence of unusual clinical manifestations often leads to delayed diagnosis. Here, we report two cases of KD with an initial presentation of pneumonia. KD...
Original Article
Multicenter clinical study of childhood periodic syndromes that are common precursors to migraine using new criteria of the International Classification of Headache Disorders (ICHD-II)
Jae Yong Park, Sang-Ook Nam, So-Hee Eun, Su Jeong You, Hoon-Chul Kang, Baik-Lin Eun, Hee Jung Chung
Clin Exp Pediatr. 2009;52(5):557-566.   Published online May 15, 2009
Purpose : To evaluate the clinical features and characteristics of childhood periodic syndromes (CPS) in Korea using the new criteria of the International Classification of Headache Disorders (ICHD)-II. Methods : The study was conducted at pediatric neurology clinics of five urban tertiary-care medical centers in Korea from January 2006 to December 2007. Patients (44 consecutive children and adolescents) were divided into...
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