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Case Report
A Case of Congenital Factor Ⅶ Deficiency Associated with Intraventricular Hemorrhage and Hydrocephalus
Hyoung Jun Kim, Jin Hwa Jung, Jeong Ho Lee, Jong Dae Jo
Clin Exp Pediatr. 1998;41(12):1726-1730.   Published online December 15, 1998
Congenital factor Ⅶ deficiency is a rare bleeding disorder with an estimated incidence of 1 in 500,000. It is inherited as an autosomal recessive pattern with variable expression and high penetrance. In severely affected patients, repeated hemarthroses, chronic crippling hemarthropathy, and dangerous hematomas can occur. Other types of hemorrhage include epistaxis, menorrhagia, hematuria, gastrointestinal and gingival bleeding. Fetal cerebral hemorrhage...
A Case of Congenital Self-Healing Reticulohistiocytosis
Taek Sun Kim, Chang Wan Kim, Eun Ryoung Kim, You Mee Kang, Kye Yong Song
Clin Exp Pediatr. 1998;41(10):1424-1429.   Published online October 15, 1998
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...
Original Article
Diagnostic Method of Congenital Cardiovascular Diseases Using Spiral Computed Tomography and Three Dimensional Reconstruction
Hye Kyung Lee
Clin Exp Pediatr. 1998;41(10):1389-1396.   Published online October 15, 1998
Purpose : One of the new methods for diagnosing congenital cardiovascular diseases is the spiral CT and three-dimensional image reconstruction. The spiral CT allows continuous data collection while the subject is advanced through the CT gantry, it provides an uninterrupted volume of data that can be reconstructed to produce a three-dimensional representation of CT information and also this method has...
The Assessment of Pulmonary Parenchymal Damage in Congenital Heart Disease using Lung Perfusion Scan
Hong Ryang Gil, Jae Goo Lee, Kang Uk Lee, Eun Ho Yi, Myung Ja Yun, Chung Il Noh, Jung Yeon Choi, Yong Soo Yun
Clin Exp Pediatr. 1998;41(5):640-645.   Published online May 15, 1998
Purpose : In acyanotic congenital heart disease of children with left to right shunt, 99mTc- Macroaggregate albumin(MAA) was employed to determine the scintigraphic severity of pulmonary parenchymal damage. Methods : These data of lung perfusion scan using 99mTc-MAA were compared with hemodynamic values obtained from cardiac catheterization. Results : The mean Pulmonary arterial pressure(≥30mmHg), total pulmonary resistance(≥2 Wood unit)...
Incidence of Congenital Heart Disease in Neonate by Color Doppler Echocardiography
Tae Chan Kwon, Joon Sik Kim, Sang Lak Lee, Myung Sung Kim, Geun Soo Park, Chun Soo Kim, In Joo Kim, Bin Ahn
Clin Exp Pediatr. 1998;41(3):363-368.   Published online March 15, 1998
Purpose : Many reports exist about the frequency of congenital heart disease(CHD) in the world, but according to the definition of CHD and subjects of study group, many differences existed between the reports. We conducted this study to evaluate the incidence and frequency of CHD by color Doppler echocardiography in neonate, and to suggest a preliminary model of incidence of...
Congenital Heart Disease and Associated Extracardiac Anomalies in Autopsies
Soon Seong Park, Myeong Ja Yoon, Jeong Sun Kim, Jeong Wook Seo, Chung Il Noh, Jung Yun Choi, Yong Soo Yoon, Byung Il Kim, Joong Hwan Choi, Chong Ku Yoon
Clin Exp Pediatr. 1998;41(3):354-362.   Published online March 15, 1998
Purpose : In order to find out how frequently and what kind of extra-cardiac anomalies (CAs) is associated with congenital heart disease(CHD) in general and in each CAs, autopsies with congenital cardiovascular malformations were studied. Methods : Autopsy files of Seoul National University Children' s Hospital from 1991 to 1995 were reviewed to find cases of CHDs. Other extra-CAs were tabulated from the records...
Case Report
A Case of Trisomy 9 Syndrome
yu Sik Jeon, Heung Tak Kim, Soon Hee Jeong, Kyuchul Choeh
Clin Exp Pediatr. 1998;41(2):255-258.   Published online February 15, 1998
Since Feingold and his collegues first describes the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagniosed...
Original Article
Congenital Asymptomatic Cytomegalovirus Infection; A Comparison of Specific IgM Antibody Test and pp65 Antigenemia Assay
Jong Hyun Kim, Eun Ah Seo, Ji Hyang Lim, Sang Hee Park, Won Bae Lee, Kyong Su Lee, Sin Ho Jung
Clin Exp Pediatr. 1998;41(2):163-169.   Published online February 15, 1998
Purpose : It is increasingly important to diagnosis asymptomatic infections which make up a majority(90%) of congenital cytomegalovirus(CMV) infections and that they may have sequeles such as sensorineural hearing loss and mental retardation. Recently antigenemia assay has been developed by using monoclonal antibodies against early structural protein pp65 of CMV. This CMV antigenemia assay seems to be more quicker to...
Case Report
A Case of Congenital Insensitivity to Pain with Anhidrosis
Munhyang Lee, Nam Seon Beck, Dongkyu Jin, Yeon-Lim Suh
Clin Exp Pediatr. 1997;40(11):1621-1626.   Published online November 15, 1997
Congenital insensitivity to pain with anhidrosies (CIPA) is one of the exceedingly rare hereditary sensory autonomic neuropathies (HSAN). There are five types of HSAN according to hereditary transmission, natural history, clinical manifestations, and pathologic findings. The CIPA corresponds to type IV and is characterized by episodes of recurrent fever with generalized anhidrosis, insensitivity to pain and temperature with self-multilation, and mental retardation. We report a 14...
A Case of Congenital Pulmonary Lymphangiectasia in Noonan Syndrome
Dong Hee Lee, Won Bae Kim, Jung Hye Choi, Su Nam Lee
Clin Exp Pediatr. 1997;40(6):877-882.   Published online June 15, 1997
Congenital pulmonary lymphangiectasia is a rare and perphaps underestimated cause of fatal respiratory distress in the neonate or infant. Pathologically, this condition is characterized by wide lymphatic channels in the subpleural and peribronchovascular spaces and the interlobular septa. Noonan syndrome is characterized by a phenotype similar to Turner syndrome but with a normal karyotype. Both pulmonary and intestinal lymphangiectasia have been reported in patients...
A Case of Congenital Acute Megakaryoblastic Leukemia with Down Syndrome
Nan Yee Kye, Kon Hee Lee, Jae Kook Cha, Hye Sun Yoon, Won Keun Song
Clin Exp Pediatr. 1997;40(4):578-583.   Published online April 15, 1997
We experienced a case of congenital acute megakaryoblastic leukemia with Down syndrome. The patient was admitted due to characteristic facial figure of Down syndrome and abdominal distension. Acute megakaryoblastic leukemia was diagnosed with abundant megakaryoblast in peripheral blood smear, severe myelofibrosis in bone marrow biopsy and positive platelet glycoprotein Ⅲa receptor. On third hospital day, the patient expired due to DIC...
One Case of Congenital Complete Atrioventricular Block Diagnosed by Fetal Echocardiography
Eun Jung Kim, Tae Hoon Kang, Hyoung Doo Lee
Clin Exp Pediatr. 1997;40(4):567-571.   Published online April 15, 1997
Congenital complete atrioventicular block is uncommon which has a heterogenous etiology. According to recent studies, about one-third of the mothers of the patients who were diagnosed as congenital complete atrioventricular block, had symptoms or signs of connective tissue disease. Even though the outlook is usually regarded as favorable, the mortality is highest in the neonatal period, much lower during childhood...
Original Article
Recent Trend of Increasing Proportion of Interventional Catheterization in Congenital Heart Disease
Sang Yup Lee, Mi Jung Kang, Eun Jung Bae, In Seung Park, Woo Sup Kim, Se Jung Sohn, Seong Ho Kim
Clin Exp Pediatr. 1997;40(4):512-518.   Published online April 15, 1997
Purpose : The proportion of interventional catheterization in congenital heart disease is being increased in Korea, especially in Sejong Heart Institute, so we performed statistical analysis on the cardiac catheterization cases. Methods : Total 233 cases of congenital heart disease confirmed by cardiac catheterization at the Sejong Heart Institute between Jaunary 1995 and June 1995 were analyzed retrospectively. Results : 1) The...
Case Report
A Case of Dup(3q) Syndrome
Yo Seop Pahn, Mi Yeon Choi, Young Ah Lee, Woo Kap Chung, Keun Young Lee, Sook Kyoung Oh
Clin Exp Pediatr. 1997;40(3):408-412.   Published online March 15, 1997
We have experienced a case of dup(3q) syndrome in the neonate who had a multiple congenital anomalies of hypertrichosis, hypertelorism, upslanting palpaberal fissures, anteverted nostrils, long philtrum, micrognathia, downturned corners of the mouth, highly arched palate, short, webbed neck, clinodactyly, rocker-bottom feet, dermal sinus. Cytogenetic studies showed a duplication 3q21→qter regions. Chromosome study of relatives is extremely important for counseling because...
Original Article
A Clinical Study of Congenital Urinary Tract Anomalies in Children
Mi-Young Han, Seong-Ho Cha, Byong-Soo Cho, Jin-Il Kim, Yung-Tae Ko
Clin Exp Pediatr. 1997;40(3):375-384.   Published online March 15, 1997
Purpose : A study was done to assess the incidence, clinical characteristics of urinary tract anomalies for decreasing urinary tract morbidity. Methods : We review 98 cases of anomaly of urinary tract who were admitted Kyung Hee University Hospital between 1986 and 1995. We analyzed incidence and associated anomalies, associated diseases and treatment modalities. Results : 1) It was composed of 45 cases(45%) of renal...
Case Report
Two Cases of Nitric Oxide Inhalation for Treatment of Severe Pulmonary Hypertension after Surgical Repair of Congenital Diaphragmatic Hernia
Yun Sil Chang, I-Seok Kang, Won Soon Park, Suk Koo Lee, Hun Hahk Kim, Heung Jae Lee
Clin Exp Pediatr. 1996;39(11):1611-1619.   Published online November 15, 1996
Nitric oxide, an endothelium-derived relaxing factor, is a selective pulmonary vasodilator. We have built and settled down the delivery system of nitirc oxide gas inhalation for the first time in Korea. Two newborn babies delvelped near fatal pulmonary hypertension after surgical repair of a congenital diaphragmatic hernia. All conventional therapeutic measures failed. So we decided to attempt to use of nitric oxide gas for...
A Case of Isolated Fetal Pleural Effusion Antenatally Diagnose
Hae Kyung Lee, Joo Tak Lee, Joon Soo Park, Young Chang Kim, Sang Chul Park, Young Hwa Kim
Clin Exp Pediatr. 1996;39(10):1469-1473.   Published online October 15, 1996
The isolated fetal pleural effusion is rare and has no other signs of fetal hydrops. Its etiology is unknown but the most common cause is congenital chylothorax. We experienced a case of fetal pleural effusion diagnosed in the 35 weeks gestational age by antenatal ultrasonogram and antenatal diagnosis allowed early therapeutic intervention such as drainage of pleural fluid immediatly after birth. We diagnosed congenital chylothorax...
Original Article
Diagnosis and Treatment of Fetal Cardiac Anomalies
Nam Su Kim, Myung Kul Yum, Hahng Lee, Sung Ro Jung, Jung Bae Yoo, Jae Ek Lee
Clin Exp Pediatr. 1996;39(10):1395-1404.   Published online October 15, 1996
Purpose : Fetal echocardiography is used for the prenatal diagnosis of congenital heart disease. Fetal echocardiography allows decisions to be made in advance where the fetal abnormality is not compatible with life after delivery or where early correction is required. Our fetal echocardiographic experience was analysed retrospectively to guide future clinical application. Methods : 138 mothers had fetal echocardiography from April 1992 to December...
Case Report
Two Cases of Congenital Atrichia Associated with the Gastrointestinal Anomaly in Siblings
Jin Kyung Jung, Sang Ho Baik, Sa Young Kim, Eui Tak Oh, Hong Ja Kang, Kil Seo Kim
Clin Exp Pediatr. 1996;39(9):1315-1320.   Published online September 15, 1996
Congenital atrichia is an anomaly characterized by congenital absence of hair in varying degrees as well as the hypopigmentation & poor development of the abnormal residual hair on the scalp, eyebrows, eyelashes & body. Two cases of congenital atrichia in siblings were reviewed. The first case was associated with congenital megacolon and skin biopsy of scalp (esp. parietal region) was non-specific. The...
Original Article
Diagnosis of Cytomegalovirus Infection in Neonatal and Infantile Periods Using Polymerase Chain Reaction
Young Ah Lee, Kyoung Lee, In Seong Jo, Woo Gap Chung
Clin Exp Pediatr. 1996;39(9):1271-1279.   Published online September 15, 1996
Purpose : The aims of present study were to document the incidence of cytomegalovirus infection in neonatal and infantile periods especially in high-risk patients of associated infection by nested PCR of DNA from leukocytes and to evaluate the effectiveness of nested PCR in the diagnosis of congenital cytomegalovirus infection. Methods : Genomic DNA was extracted from peripheral leukocytes of 204 neonates and infants during the...
The Effects of Lipo Prostaglandin E1(EglandinⓇ) in Patients with Ductus Dependent Congenital Heart Disease
Sejung Sohn, Seong Ho Kim, Eun Jung Bae, In Seung Park
Clin Exp Pediatr. 1996;39(8):1111-1121.   Published online August 15, 1996
Purpose : The adverse reactions of prostaglandin E1(PGE1) are troublesome in the preoperative management of critical patients with ductus dependent congenital heart disease, and a preparation with less adverse reactions is preferable. The effects of Lipo PGE1, a new preparation of PGE1 contained in lipid microspheres, were compared with those of conventional PGE1(PGE1-CD). Methods : Lipo PGE1 was infused at a rate of 5...
Correlation between Plasma Endothelin-1 Concentrations and Pulmonary Hypertension Associated with Congenital Heart Defects
Sang Ook Park, Su Eun Park, Hyang Jae Yoo, Young Tak Lim, Hee Ju Park
Clin Exp Pediatr. 1996;39(7):970-976.   Published online July 15, 1996
Purpose : Endothelin-1 is the most potent vasoconstrictor. This study was investigated the correlation of plasma endothelin-1 and pulmonary hypertension associated with congenital heart defect. Methods : We evaluated the concentration of ET-1 in 24 cases of congenital heart disease diagnosed at the Department of Pediatrics, Pusan National University, from December 1993 to September 1994. The patients were divided into 2 groups according to mean...
Case Report
A Case of 3p Partial Trisomy
Jeong Eun Park, Il Soo Kim, Moo Young Song, Eun Ryoung Kim, Shin Young Moon, Sun Kyung Oh
Clin Exp Pediatr. 1996;39(6):873-880.   Published online June 15, 1996
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,...
An Autopsy Case of Double Aortic Arch
Ji Sook Kim, Yong Myung Jo, Kyung Hee Ko, Eun Ryoung Kim, Je Grun Chi
Clin Exp Pediatr. 1996;39(5):727-731.   Published online May 15, 1996
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...
Original Article
Prognosis of Congenital Extrahepatic Biliary Atresia After Hepatic Portoenterostomy
Myung Hyun Sohn, Ki Sup Chung, Euh Ho Whang
Clin Exp Pediatr. 1996;39(5):658-664.   Published online May 15, 1996
Purpose : The surgical results for congenital extrahepatic biliary atresia have been improved since Kasai first described hepatic portoenterostomy(Kasai operation) in 1959. This study was conducted to evaluate the postoperative prognosis of congenital extrahepatic biliary atresia after hepatic portoenterostomy. Methods : This clinical study was done by reviewing the medical records of 30 patients who have undergone hepatic portoenterostomy at the Severance Hospital, Yonsei...
Case Report
Four Cases of Congenital Esophageal Stenosis Due to Tracheobronchial Remnants
Gi Woong Sung, So Young Lee, Yeon Ho Choi, Kyoung Mo Kim, Jeong Kee Seo, In Won Kim, Kwi Won Park, Jong Je Kim
Clin Exp Pediatr. 1996;39(2):273-279.   Published online February 15, 1996
Esophageal stenosis due to tracheobronchial remnants is a rare cause of congenital esophageal stenosis. The cause is thought to be esophageal sequestration of tracheobronchial remnants during embryonic separation. Errors in diagnosis are common and high index of suspicion is required for accurate diagnosis, and resection of primary site with anastomosis is recommanded. Although a rare entity, esophageal stenosis due to...
Original Article
The Influence of the Use of Iodine during Perinatal Period on the Screening Test for Congenital Hypothyroidism
Gyu Bum Cho, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1996;39(2):195-206.   Published online February 15, 1996
Purpose : This study was performed to detect the diseases of congenital hypothyroidism by the neonatal mass screening test early and to demonstrate the possible role of topical iodinated antiseptics(povidone-iodine, PVP-Ⅰ) on transient hyperthyrotropinemia in newborn infants. Methods : We performed neonatal screening tests for inborn errors of metabolism since 1985 by Guthrie test for PKU, maple syrup urine disease, histidinemia,...
Case Report
A Case of Congenitial Pyloric Atresia
Hyeon Jeong Lee, Jun Hoe, Jeong Hwa Whang, Gae Soon Yeo, Hee Jin Kim, Chan Yung Kim, Jun Hyeon Kim
Clin Exp Pediatr. 1995;38(12):1713-1717.   Published online December 15, 1995
In the newborn, a complete occlusion of the pyloric outlet is an extremely rare event. Authors experienced a case of pyloric atresia in a 2-day old boy, Who was admitted because of nonbilious vomiting. The plain radiograph of the abdomen showed gas in the huge stomach, but no gas noted distally. At operation, 3 days after birth, the pylorus was atretic...
A Case of Spontaneously Remitted Congenital Minimal Change Nephrotic Syndrome
Tae Sun Ha, Kyung Hee Lee, Beom Soo Park, Heon Seok Han
Clin Exp Pediatr. 1995;38(9):1288-1292.   Published online September 15, 1995
Nephrotic syndrome is a condition with severe proteinuria, hypoalbuminemia, and edema. When the syndrome develops within the first 3 months of life, it is generally considered as congenital and the overall outcome in this group seems to be worse than in miniaml change lesion that occurs at an older age regardless of the pathologic findings. A female infant with congenital nephrotic...
A Case Report of Acrorenal Syndrome
Soo Hee Chang, Jo Seph Choi, Soo Chul Cho, Dae Yeol Lee
Clin Exp Pediatr. 1995;38(8):1151-1154.   Published online August 15, 1995
Acrorenal syndrome is congenital anomaly of the limbs and urinary tract of unknown etiology. Acral malformations consist of varying combinations of oligodactyly, ectrodactyly, syndactyly, brachydactyly, polydactyly, and carpal, tarsal, or metatarsal fusions of the hands and feet. Urinary tract abnormalities include unilateral renal agenesis and duplication of the collecting system. The condition is a polytopic developmental field defect(acrorenal field) and...