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Case Report
A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst
Bong Seok Choi, Sang Nam Bae, Yong Tak Im, Jae Hong Park, Chang Hoon Lee, Jun Woo Lee
Clin Exp Pediatr. 2002;45(7):923-927.   Published online July 15, 2002
Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis...
A Case of Congenital Partial Nephrogenic Diabetes Insipidus
Eun Ha Mo, In Hye Nam, Min Ja Chung, Jae Hong Yu
Clin Exp Pediatr. 2002;45(7):902-905.   Published online July 15, 2002
The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI...
A Case of Respiratory Difficulty Due to Congenital Tracheal Calcification and Nasal Pyriform Aperture Stenosis
Kyu Tae Kim, Young Mi Kim, Su Eun Park, Jae Hong Park, Hawn Jung Noh, Hak Jin Kim
Clin Exp Pediatr. 2002;45(5):669-672.   Published online May 15, 2002
Nasal obstruction is a cause of respiratory distress in newborns. The congenital nasal airway obstructive abnormalities are classified into three forms according to the location: posterior choanal atresia, nasal cavity stenosis and congenital nasal pyriform aperture stenosis(CNPAS). CNPAS is located at the anterior part of the nasal fossa. CT is the study of choice to make the diagnosis of CNPAS...
A Congenital Cutis Laxa Fatality Caused by Early Onset Pulmonary Emphysema
Tae Won Lee, Seung Jun Seong, Yoo Mi Jeung, Jae Bok Kim, Eun Ryoung Kim, Yong Su Yoon
Clin Exp Pediatr. 2001;44(10):1176-1181.   Published online October 15, 2001
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...
Galloway-Mowat Syndrome in Two Siblings
Hae-Sung Jung, Eun-Young Cho, Jae-Young Lim, Ji-Hyeoan Seo, Myoung-Bum Choi, Chan-Ho Park, Hang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2001;44(9):1081-1084.   Published online September 15, 2001
We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother...
A Case of Congenital Methemoglobinemia Due to NADH-Methemoglobin Reductase Deficiency
Do Hyeon Kim, Jin A Lee, Sung Jae Lee, Heui Seung Jo, Yun Kyoung Lee, June Dong Park, Beyong Il Kim, Jung-Hwan Choi, Dong Soon Lee, Han Ik Cho, Kyung Ran Park
Clin Exp Pediatr. 2001;44(6):699-704.   Published online June 15, 2001
Congenital methemoglobinemia is caused by NADH-methemoglobin reductase deficiency in more than half of the total reported cases. NADH-methemoglobin reductase deficiency is an uncommon hereditary disorder producing methemoglobinemia and cyanosis in the homozygous subject. A majority of the patients born with these abnormalities have only a cosmetic defect-asymptomatic cyanosis. Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency is an autosomal recessive disorder...
A Case of Congenital Chylothorax in a Premature Infant
Su Kyeong Oh, Young Hye Jeong, Youn Jee Choi, Soon Ok Byun, Ji Sub Oh
Clin Exp Pediatr. 2001;44(4):460-463.   Published online April 15, 2001
We experienced a case of isolated fetal pleural effusion diagnosed by antenatal ultrasonogram in the 33th week of gestational age. Chest PA at birth showed massive pleural effusion in both lungs. The serous pleural fluid changed to a milky nature after feeding so we diagnosed it as congenital chylothorax. The infant was managed by chest tube drainage, NPO & TPN...
Original Article
Study for Balloon Aortic Valvuloplasty in Congenital Aortic Stenosis
In Seung Park, Do Jun Cho, Mi Young Han, Jae Young Lee, Soo Jin Kim, Mee-Hye Oh, Eun Jung Bae, Seong Ho Kim
Clin Exp Pediatr. 2001;44(2):167-176.   Published online February 15, 2001
Purpose : The aims of this study are to investigate the results of balloon aortic valvuloplasty (BAV) in congenital aortic stenosis(CAS) and, especially, to compare the results between BAV performed before two months of age(Group A) and BAV after two month of age(Group B). Methods : From January 1993 to June 2000, 14 patients who were diagnosed as CAS were treated...
Analysis of Malnutrition in Children with Congenital Heart Disease
Jeoung Eun Kim, Bo Hwa Choi, Kyung Mo Kim, Jae Kon Ko, Dong Man Seo
Clin Exp Pediatr. 2001;44(2):161-166.   Published online February 15, 2001
Purpose : Malnutrition and failure to thrive have long been recognized as common systemic consequences of congenital heart disease(CHD). But there is little data about the prevalence and severity of malnutrition with CHD in Korea. We designed this study to determine the prevalence of malnutrition among hospitalized children with CHD. Methods : We reviewed 100 hospitalized children with CHD who were...
Case Report
A Case of Congenital Nasal Pyriform Aperture Stenosis
Hyoung Sik Oh, Sang Hee Kim, Gil Hyun Kim, Hak Soo Lee, Il Hwan Jang, Ji Hae Kim
Clin Exp Pediatr. 2001;44(1):99-102.   Published online January 15, 2001
The cause of congenital nasal pyriform aperture stenosis is unclear. The development of the facial skeleton occurs between the fifth and the eighth week of gestation. It is at this stage that the stenosis occurs due to overgrowth of the ossification of the maxilla. Infants are obligate nasal breathers. Incomplete and milder forms of nasal airway obstruction may be present...
Original Article
A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy
Dae-Won Shin, Jun Huh, Hong-Jin Lee, Won-Ill Park, Kyung-Ja Lee, Yoon-Sook Shin, D.R. Sjarif, B.T. Poll-The
Clin Exp Pediatr. 2001;44(1):83-88.   Published online January 15, 2001
On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two...
The Correlation Between the TSH Level in Neonatal Screening Test and the Prognosis of Congenital Hypothyroidism
Hong Sun Park, Kye Shik Shim, Kyuchul Choeh
Clin Exp Pediatr. 2001;44(1):25-31.   Published online January 15, 2001
Purpose : It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital hypothyroidism with neonatal screening test, the results of treatment will improve. Methods : Sixty-four term infants whose TSH levels in neonatal screening test had been higher than 20μIU were recalled....
Case Report
A Case of Congenital Epulis of the Newborn
Dong Gon Lee, Eun Young Kim, Sang Kee Park, eong Ryoul Yang, Dong Chool Kim, Jae Hong Seo
Clin Exp Pediatr. 2000;43(12):1621-1625.   Published online December 15, 2000
Congenital epulis of the newborn refers to a very rare gingival tumor that occurs along the anterior alveolar ridge in newborn infants. We report a neonate with 3¡¿2¡¿1.5cm mass protruding from the mouth. This was a pinky, red solid pedunculated mass, attached to the maxillar left canine region of the alveolus at birth. The tumor's large size partially obliterated the...
Two Cases of Congenital Paraesophageal Hiatal Hernia in Infancy
Ji Yeon Hong, Kih Yeon Song, Woo Ki Lee, Kwang Woo Kim, Jong Gon Ha, Soon Ok Choi
Clin Exp Pediatr. 2000;43(12):1613-1620.   Published online December 15, 2000
Herniation of the stomach through the esophageal hiatus into the posterior mediastinum is a commom affliction of humans. The incidence of hiatal hernia is difficult to determine because of the absence of symptoms in a large number of patients. Hiatal hernias are classified into two major types; type I sliding hiatal hernia and type II paraesophageal hiatal hernia. Sliding hernia...
Original Article
Congenital Chloride Diarrhea in 5 Korean Infants
Dong Hun Rhie, Sun Hwan Bae, Ji Eun Choi, Bo Young Yun, Dong Woo Son, Choong Ho Shin, Kyung Hee Park, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2000;43(11):1465-1472.   Published online November 15, 2000
Purpose : Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl－ concentration. Recent studies have revealed that the protein product of the down-regulated in adenoma(DRA) gene is an intestinal anion transporter molecule and causes CLD when mutated. We investigated the clinical characteristics of CLD in Korean infants in order...
Study of Congenital Mitral Stenosis Cases Requiring Surgical Correction in the First 2-Years of Life
In Seung Park, Young Seok Lee, Mi Young Han, Jae Young Lee, Soo Jin Kim, Do Jun Cho, Mee-Hye Oh, Woong-Han Kim, Young-Tak Lee, Eun Jung Bae, Seong Ho Kim
Clin Exp Pediatr. 2000;43(11):1458-1464.   Published online November 15, 2000
Purpose : Congenital mitral stenosis(CMS) is a rare anomaly accounting for 0.4-0.5% of total heart disease. CMS which cases needed surgical correction in infancy are even rare. In this study, we analyzed 11 CMS patients of less than 2 year of age who needed surgical corrections, in order to find out their diagnoses, the characteristics, the results of operation and...
A Prospective Epidemiological Study on Birth Defects : A Community Based Pilot Study
Hyon Ju Kim, Yeon Kyeoung Kim, Dae Kyun Koh, Jong Hyun Kim, Bo Won Choi
Clin Exp Pediatr. 2000;43(6):738-745.   Published online June 15, 2000
Purpose : This prospective pilot study is a part of the Korean NIH’s effort to characterize congenital anomalies and genetic disorders in Korea and to establish a National Genetic Database. Methods : This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for...
Case Report
A Case of Congenital Long QT Syndrome with Reccurent Syncope
Jong Hwa Hwang, Hong Bae Kim
Clin Exp Pediatr. 2000;43(5):725-729.   Published online May 15, 2000
Congenital long QT syndrome(LQTS) is a disease characterized by prolongation of ventricle repolarization and by the occurrence, usually during emotional or physical stress, of life-threatening arrhythmias that lead to sudden death in most symptomatic and untreated patients. Two variants have been initially identified : the original Jervell and Lange-Nielsen syndrome of congenital deafness and autosomal recessive inheritance, and the more...
A Case of Partial Trisomy 9 by Balanced Maternal Translocation
Mi Kyung Kim, Young Kyoo Shin, Baik Lin Eun, Sang Hee Park, Sun Hwa Park, Soon Hyuk Lee
Clin Exp Pediatr. 2000;43(5):700-703.   Published online May 15, 2000
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital...
Four Cases of Congenital Depressed Skull Fractures in Neonates
Byung Soon Kang, Eun Young Kim, Chang Weon Oh, Kyoung Sim Kim, Yong Wook Kim, Min Suk Oh
Clin Exp Pediatr. 2000;43(4):567-572.   Published online April 15, 2000
Depressed skull fractures in newborn babies mainly result from birth injury and rarely occurr in intrauterine life without any definable etiology. We present 4 cases of congenital intrauterine depressed skull fractures which were discovered at birth in neonates. Three babies(case 1, 2, 3) had round shallow depressions without adjacent soft tissue injury except the last one(case 4), showing sharp angulation...
Original Article
Congenital Heart Anomalies in Patients with Clefts of the Lip and/or Palate
Jin Ho Yu, Jeong Jin Yu, June Huh, Chung Il Noh, Jung Yun Choi, Yong Soo Yu
Clin Exp Pediatr. 2000;43(4):520-525.   Published online April 15, 2000
Purpose : The prevalence of congenital heart anomalies is known to be higher in patients with clefts of the lip and/or palate(CL/P). The purpose of this study was to determine the prevalence and type of congenital heart anomalies in patients with CL/P. Methods : We investigated congenital heart anomalies in 756 patients presented with CL/P from January 1986 to December...
Case Report
Two Cases of Bart`s Syndrome in Mother and Daughter
Si-Eun Lee, Yong-Suk Kim, Su-Jin Lee, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn, Jeong-Hee Lee
Clin Exp Pediatr. 2000;43(2):306-311.   Published online February 15, 2000
We experienced two cases of congenital localized skin defect and neonatal onset of relapsing subepidermal blisters associated with minor trauma in a female newborn infant and her mother. The mother of index case showed toe nail dystrophy at delivery of her daughter, but the index case did not reveal nail dystrophy until 14 months of age. The congenital skin defects...
A Case of Congenital Intrahepatic Portosystemic Venous Shunt
Do Yeon Kim, Dong Jin Lee, Jung Hyeok Kwon
Clin Exp Pediatr. 2000;43(2):283-287.   Published online February 15, 2000
Intrahepatic portosystemic venous shunt(IPVS) is an uncommon pathologic condition which occurs mostly in adult patients with portal hypertension and cirrhosis of the liver with only scattered reports are on children. However, asymptomatic IPVS have been detected in an increasing number of patients with recent advances in imaging techniques, such as sonography, CT, MR imaging, and color Doppler sonography. The cause...
Flexible Bronchoscopic Finding of Congenital Lobar Emphysema
Young Mee Seo, Jung Yeon Shim, Bong Seong Kim, So Duk Lim, Soo-Jong Hong
Clin Exp Pediatr. 2000;43(1):133-137.   Published online January 15, 2000
Congenital lobar emphysema is a rare disease and a cause of respiratory distress in early infancy. The most common location of pulmonary involvement is the left upper lobe. We diagnosed a case of congenital lobar emphysema in a 5-month-old female infant, who had a complex heart disease using flexible bronchoscopy. In spite of palliative heart surgery, respiratory difficulty and cyanosis did not improve and...
Original Article
Follow up of Infants with Congenital Hypothyroidism Who were Detected by Newborn Screening Test
Kyung Ah Kim, Eun Sil Lee, Son Moon Shin, Han Ku Moon, Yong Hoon Park
Clin Exp Pediatr. 1999;42(8):1141-1148.   Published online August 15, 1999
Purpose : Developmental delay in congenital hypothyroidism can be prevented by early detection and treatment. We conducted a follow-up study to assess the growth and development of infants with congenital hypothyroidism who were detected by newborn screening test and received thyroid hormone therapy. Methods : Nineteen hypothyroid infants were detected by newborn screening test from April 1995 to May 1997. Measurements...
Comparison between Thyroid Function Test and Radiographic Size of Knee Epiphysis in Neonates with Congenital Hypothyroidism
An Sung Koh, Jae Ock Park, Dong Hwan Lee
Clin Exp Pediatr. 1999;42(8):1130-1135.   Published online August 15, 1999
Purpose : Biochemical confirmation of congenital hypothyroidism takes about 10 days, which may result in a delay in diagnosis. The delay could be reduced if a faster method of investigation such as knee radiograph is used. The aim of this study is to assess the value of plain radiography of the knee in providing supportive evidence for the diagnosis of...
Case Report
A Case of Isolated Right Ventricular Hypoplasia without Tricuspid Atresia or Pulmonary Atresia
Eui Jun Yang, Sun Young Kim, Sank Ook Nam, Hee Ju Park, Nam Hee Kwak
Clin Exp Pediatr. 1999;42(7):1026-1030.   Published online July 15, 1999
Isolated right ventricular hypoplasia, unassociated with severe pulmonary or tricuspid valvar malformations, is a rare primary congenital cardiac anomaly in which of the trabecular portion of right ventricle fails to develop. An atrial septal defect or a patent foramen ovale serves as an escape valve. We observed a 2-day-old neonate with this disorder who suffered from cyanosis. The diagnosis was...
A Case of Ectopic CD7(+) Congenital Monocytic Leukemia
Na Yeon Kim, Dong Seok Lee, Jin Hwa Jeong, Sung Min Cho, Doo Kwun Kim, Sung Min Choi, Woo Taek Kim, Kyung Im Ha
Clin Exp Pediatr. 1999;42(7):1003-1007.   Published online July 15, 1999
Congenital acute leukemia is a rare disorder with approximately 200 cases reported. It is defined as a childhood leukemia occurring at birth or before 1 month of age at a rate of 1%. Acute leukemias are generally classified according to morphology, cytochemistry and cell surface marker expression. Most leukemias conform to an ordered lineage-specific pattern of gene expression, but a...
Original Article
Assessment of Regional Wall Motion of the Left Ventricle in Children with Congenital Heart Disease
Chang Hee Han, Jun Ho Huh, Un Seok Nho, Byung Ho Choi, Myung Chul Hyun, Sang Bum Lee
Clin Exp Pediatr. 1999;42(6):807-816.   Published online June 15, 1999
Purpose : To assess wall motion of the left ventricle in the various forms of congenital heart disease and to select appropriate methods by which to gauge left ventricular wall motion. Methods : We evaluated left ventricular function, including volume, global ejection fraction, and regional wall motion(Centerline method, Local Ejection Fraction, Curved Perimeter method and Radial method). The evaluation was done...
Congenital Esophageal Stenosis : with Special Reference to Diagnosis and Postoperative Complications
Ju Young Jang, Jae Seong Ko, Kwi Won Park, Woo Seon Kim, In Won Kim, Ja Jun Jang, Jeong Kee Seo,
Clin Exp Pediatr. 1999;42(4):535-544.   Published online April 15, 1999
Purpose : Congenital esophageal stenosis(CES) is one of the rare causes of recurrent vomiting during infancy and childhood. We studied the diagnostic and therapeutic tools and postoperative complications for early diagnosis and adequate management of CES. Methods : Fourteen cases of CES were evaluated for clinical manifestations, findings of esophagogram and esophagoscopy, classification of pathologic findings and postoperative complications. Results : Most...