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Original Article
Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping
Jin-Sung Lee, Won Kyu Choi
Clin Exp Pediatr. 1997;40(7):917-924.   Published online July 15, 1997
Purpose : Down syndrome, the most common single cause of mental retardation, is usually due to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic nondisjunction including parental origin of an extrachromosome and the meiotic stage of nondisjunction, we have studied DNA polymorphisms at loci on the long arm of chromosome 21 in 36 families with free trisomy 21. Methods...
Case Report
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...
Erratum
A Case of Joubert Syndrome
Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
Accepted January 1, 1970  
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles...
Case Report
Pena-Shokeir I Syndrome in a Newbonrn Infant
Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon
Clin Exp Pediatr. 1997;40(5):721-725.   Published online May 15, 1997
Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait. We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory...
Original Article
Clinical Features of Adrenocortical Neoplasms
Jung-Eun Lee, So-Chung Chung, Duk-Hi Kim, Ho-Sung Kim
Clin Exp Pediatr. 1997;40(5):680-689.   Published online May 15, 1997
Purpose : Adrenocortical tumors are uncommon in children and comprise only a small proportion of primary adrenal neoplasms. The biologic behavior of these tumors may be very difficult to predict, and their rarity has hindered identification of clinical characteristics. Patients with functioning tumors have excessive steroid hormone production, and the clinical manifestation depends on the predominant hormone produced. The detection of...
A Study of Vascular Reactivity Change in Nephrotic Syndrome Children Using Plethysmography
Jae Won Shim, Byoung Hoon Yoo, In Suk Lim
Clin Exp Pediatr. 1997;40(5):650-659.   Published online May 15, 1997
Purpose : The nephrotic syndrome is characterized by proteinuria, hypoproteinemia, edema and hyperlipidemia. These can change body homeostasis and cause hypertension. This study was designed to determine the relationship between the forearm vasodilating capacity and serum cholesterol level of nephrotic syndrome patients. Methods : 15 Nephrotic syndrome patients and 17 normal control children who visited Chung-ang University Youngsan Hospital from Sep....
Case Report
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...
A Case of Severe Pulmonary Complication and ARDS Secondary to Peanut Aspiration in 15 Month Old Male
Sung Keun Moon, Chang Keun Kim, Churl Young Chung
Clin Exp Pediatr. 1997;40(3):423-428.   Published online March 15, 1997
Foreign body aspiration(especially peanut) is the leading cause of accidental death in children under 1 year of age and most cases of serious aspiration occur between the age of 1 and 3. We report a case of severe pulmonary complication and adult respiratory distress syndrome(ARDS) secondary to peanut aspiration in 15 month old male in spite of all removal(9 pieces) by ventilating bronchoscope. Chest...
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
Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome
Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim
Clin Exp Pediatr. 1997;40(3):385-392.   Published online March 15, 1997
Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert syndrome were included in ourstudy. Each child was diagnosed at the Seoul National University Children's...
Abnormal Electrogastrography and Gastric Emptying Time in Patients with Cyclic Vomiting Syndrome during Symptom Free Interval
Nam Seon Beck
Clin Exp Pediatr. 1997;40(2):209-216.   Published online February 15, 1997
Purpose : Cyclic vomiting syndrome is characterized by repeated, unpredictable, explosive and unexplained bouts of vomiting and recur after intervals of uncertain length. In the absence of either known etiology or pathogenesis, deciphering the mystery of cyclic vomiting syndrome presents us with a daunting clinical challenge. As we seek to understand this mysterious vomiting disorder of unknown etiology and pathogenic mechanism,...
Pulmonary Air Leak Syndrome Associated with Respiratory Diseasein Infancy and Childhood
Hae Kyung Lee
Clin Exp Pediatr. 1997;40(2):189-193.   Published online February 15, 1997
Purpose : Pneumothorax, pneumomediastinum and subcutaneous emphysema rarely complicate pediatric respiratory disease such as bronchial asthma, bronchiolitis, bronchopneumonia. But physicians unfamiliar with natural history of these complications may feel that surgical intervention is necessary. So this study was done to to recognize the pulmonary air leak syndrome associated with respiratory disease in infancy and childhood. Methods : I reviewed retrospectively the medical...
The Pelvic Changes of Patients with Down Syndrome in Korea
Jong Park, Kwan Cheol Oh, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1997;40(2):159-166.   Published online February 15, 1997
Purpose : Since Caffey et al. first described the anomaly in pelvis among the Down patients, decreased iliac and pelvic indexes have been helpful in diagnosing the syndrome. For Korean cases, however, no definitive data are available as yet, prompting us to evaluate the pelvic changes in Korean Down's patients. Methods : Subjected to this study were 68 children with Down's syndrome. As...
Clinicopathological Study about Childhood Primary Nephrotic Syndrome Resistant to 4-week Daily Steroid Therapy
Jung Sue Kim, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1996;39(12):1729-1735.   Published online December 15, 1996
Purpose : Steroid-resistant nephrotic syndrome in children is difficult to manage and tends to progress to chronic renal failure. We studied clinicopathological correlations in primary nephrotic syndrome in children resistant to 4-week daily steroid therapy. Methods : Among children who had been admitted to Seoul National University Children's Hospital during the period between Oct. 1985 and Jul. 1995 and diagnosed as primary nephrotic syndrome, 87...
Case Report
A Case of Tethered Cord Syndrome
Sook Yeong Jeon, Ki Hyoung Lee, Moon Sung Park, Ok Wha Kim
Clin Exp Pediatr. 1996;39(11):1636-1640.   Published online November 15, 1996
Tethered cord syndrome is one of the spinal dysraphism with low-lying conus medullaris frequently associated with spinal lipoma, diastematomyelia and thick filum. The clinical manifestation is variable from no overt symptoms for a long time to back pain, scoliosis, progressive neurological deficit of legs and incontinence. Therefore the diagnosis requires a strong clinical suspicion and aggressive investigation. We experienced a case of 1 day-old male...
A Case of Nezelof's Syndrome
Hyeon Tae Kim, Nok Hong Kim, Eun Yeong Seol, Ki Hyun Chun, Kung Ho Lee, Mun Ki Cho, Kung Ran Choi
Clin Exp Pediatr. 1996;39(11):1620-1626.   Published online November 15, 1996
Nezelof's syndrome(combined immunodeficiency with immunoglobulin) is a hereditary primary immunodeficiency characterized by recurrent chronic pulmonary infections, oral and cutaneous candidiasis, failure to thrive, chronic diarrhea, skin infection, urinary tract infection, gram-negative sepsis, severe progressive varicella infection, lymphopenia, diminished lymphoid tissue, abnormal structure of the thymus, and presence of normal or increased levels of one or more of the major immunoglobulin classes, but with impaired antibody...
Original Article
Changes in MaternalAge and the Incidence of Down Syndrome
Chang Weon Oh, Sung Su Lim, Ki Bok Kim, Won Jin Kee
Clin Exp Pediatr. 1996;39(11):1512-1519.   Published online November 15, 1996
Purpose : The incidence of Down syndrome, the most common chromosoaml anomaly, increases with the advanced maternal age. Recently, however, the incidence of Down symdrome was reported to have decreased with wide acceptance of prenatal diagnosis and planned parenthood, prompting us to re-evaluate the incidence of Down syndrome in relation to changes in maternal age. Methods : Subjected to study were 296 Down cases: 26...
Clinical Course of Atrioventricular Septal Defect(AVSD) in Down and non Down syndrome
Un Seok Nho, Myung Chul Hyun, Sang Bum Lee
Clin Exp Pediatr. 1996;39(9):1288-1294.   Published online September 15, 1996
Purpose : It is well known that 1/3 - 1/2 of Atrioventricular septal defect(AVSD) patients also have Down syndrome which may influence the clinical course of AVSD. To know the anatomic type of AVSD and the effect of Down syndrome on the clinical course of AVSD, we studied 37 cases( Down group: 14 cases, non Down group: 23 cases) who were diagnosed and...
Case Report
A Case of Intestinal Neuronal Dysplasia
Se Young Kim, Yon Ho Choe, Jeong Kee Seo, In One Kim, Chong Jai Kim
Clin Exp Pediatr. 1996;39(8):1151-1157.   Published online August 15, 1996
Intestinal neuronal dysplasia(IND) is a disease characterized clinically by symptoms of intestinal obstruction and pathologically by hyperplasia of the submucosal and myenteric plexuses with formation of giant ganglia. Chronic intestinal pseudo-obstruction is a clinical diagnosis, composed of myopathic form and neuropathic form, and normal intestinal histology. Intestinal neuronal dysplasia is a neuropathic form of chronic intestinal pseudo-obstruction. The clinical presentation and the course of IND...
A Case of Mauriac's syndrome
Se Young Kim, Choong Ho Shin, Il Soo Ha, Hae Il Cheong, Sei Won Yang, Yong Choi, Hyung Ro Moon
Clin Exp Pediatr. 1996;39(7):1020-1024.   Published online July 15, 1996
Mauriac's syndrome was described in the 1920s, as a triad of poorly controlled insulin dependent diabetes mellitus, profound growth retardation, and hepatomgaly. Following the wide availability of insulin and intensification of diabetic control, this entity has become quite rare. A 9-year-old female child was transferred to pediatric OPD of SNUCH because of hyperglycemia, short stature, and visual disturbance. Five years prior to admission, she...
Original Article
Molecular Genetic Screening for the SRY(Sex Determining Region of the Y chromosme) Gene in Turner Syndrome Patients
Jung-Yeon Shim, Han-Wook Yoo
Clin Exp Pediatr. 1996;39(7):915-923.   Published online July 15, 1996
Purpose : Turner syndrome is among the most common cytogenetic abnormalities associated with X chromosome. In only 40-60% of Turner syndrome, 45,X monosomy is found and the high prenatal mortality of non-mosaic 45,X has led to the hypothesis that liveborn 45,X individuals may be cryptic mosaics. The presence of Y chromosome is significant because it predisposes affected individuals with Turner syndrome to gonadoblastoma formation....
The Changes of the Bone Mineral Density in the Girls with Turner Syndrome, using Recombinant Human Growth Hormone
Sei Won Yang
Clin Exp Pediatr. 1996;39(6):839-845.   Published online June 15, 1996
Purpose : Estrogen deficiency causes sexual infantilism in Turner syndrome, which could decrease the bone mineral density(BMD) since birth. This decreased BMD might be contributed by the decreased growth hormone(GH) secretion. To improve the decreased BMD, estrogen therapy is recommended, especially after the pubertal age, but estrogen therpay during childhood can accelerate the epiphyseal fusion, resulting in shorter final height. There is...
Effect of Steroid Therapy on Bone Mineral Density in Children with Minimal Change Nephrotic Syndrome
Byeong Hee Son, Woo Yeong Chung, Chul Ho Kim
Clin Exp Pediatr. 1996;39(6):822-828.   Published online June 15, 1996
Purpose : Osteoporosis and growth failure have been known one of the serious side effects of corticosteroid therapy especially in children. This study was designed to evaluate the effect of long-term administration of steroids on bone mineral density(BMD) in children with nephrotic syndrome and its relationship to cumulative steroid dose, the duration of the rapy and sex. Methods : The BMD of...
Case Report
Antiphospholipid Syndrome Presented with Pulmonary Embolism and Deep Venous Thrombosis in Child
Ran Lee, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 1996;39(5):722-726.   Published online May 15, 1996
Antiphospholipid syndrome is a thrombotic disorder and the serologic marker of the syndrome is antiphospholipid antibody(lupus anticoagulant, anticardiolpin antibody, or both). In a 13-year-old girl who presented with dyspnea, pulmonary embolism and femoral vein thrombosis were demonstrated by lung scan and abdominal ultrasonography. She had 3 out of 11 criteria for the diagnosis of SLE, such as thrombocytopenia, positive antinuclear antibody, low C3...
Isolated Splenic Infarction in a Girl with Systemic Lupus Erythematosus
Kyung Ran Park, Hee Eun Lee, Yun Ae Jeon, Il Soo Ha, Hae Il Cheong, Joong Gon Kim, Yong Choi
Clin Exp Pediatr. 1996;39(4):562-566.   Published online April 15, 1996
Splenic infarction is a rare disease and usually detected as a complication of SBE, atrial fibrillation, hemoglobinopathy, or myeloproliperative disorders. Although thrombotic event, such as deep vein, cerebral or renal thrombosis, is a frequent complication of SLE, there have been only a couple of cases documenting splenic infarction complicated in SLE. This is, to our knowledge, the first case report...
Original Article
Surfactant Protein SP-A, B, and C: Purification and Biochemical Characterization
Chong-Woo Bae, Yong-Mook Choi, Joo Hyun Kang, Kil Lyong Kim, Kyung Soo Hahn
Clin Exp Pediatr. 1996;39(2):218-229.   Published online February 15, 1996
Purpose : Several kinds of exogenous pulmonary surfactants (SF), either synthetic or animalderived, are being used for the replacement therapy in respiratory distress syndrome (RDS) of newborn, especially in premature infants, and improved the neonatal mortality and morbidity. Because synthetic preparations are lack of surfactant protein (SP) and animal-derived preparations cause immunogenecity of heterogenous SP, there have been great necessity for the development of next...
Case Report
A Case of Neonatal Cholestasis with Arthrogryposis Multiplex Congenita and Renal Tubular Insufficiency(ARC Syndrome)
Hi Soo Rhee, Soon Young Kim, Nam Sun Baik, Il Soo Ha, Jeong Kee Seo
Clin Exp Pediatr. 1996;39(1):126-130.   Published online January 15, 1996
We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal...
Original Article
Report of Nationwide Epidemiology of Aseptic Meningitis Outbreak in 1993 in Korea
Sung Hee Oh, Moo-Song Lee, Jin Han Kang, Chang Hwi Kim, Chong Young Park, Young Mo Sohn, Hoan Jong Lee, Chung Sik Chun, Sang Mann Shin
Clin Exp Pediatr. 1996;39(1):42-52.   Published online January 15, 1996
Purpose : There has been no nationwide report pertaining to the epidemiology of aseptic meningitis, although a great numer of patients have been diagnosed of the illness. Therefore, we report an explosive outbreak of aseptic meningitis occured in a nationwide scale in 1993. Methods : Aseptic meningitis epidemiology surveillence was performed retrospectively on the patients diagnosed of aseptic meinigitis from January...
Case Report
Toxic Shock Syndrome in a 13 Year Old Boy
Ji Hye Kim, Sung Hee Oh
Clin Exp Pediatr. 1995;38(12):1706-1712.   Published online December 15, 1995
Toxic Shock Syndrome(TSS), known to be mediated by toxins produced by Staphy¡ⓒlococcus aureus, is a potentially fatal multisystemic illness unless treated properly. Although the reported cases of TSS were primarily among menstruating women, more cases of TSS among children, nonmenstruating women and male adults have been reported recently. In Korea, however, TSS has not drawn much attention yet, and no...
Original Article
Cushing Syndrome in Children and Adolescents
Choong Ho Shin, Sei Won Yang, Hyung Ro Moon
Clin Exp Pediatr. 1995;38(12):1677-1685.   Published online December 15, 1995
Purpose : Cushing syndrome occurs rarely in children and adolescents. The clinical manifestation is variable and growth is usually adversely affected. Methods : We retrospectively analyzed 8 patients with Cushing syndrome between the ages of 1 and 14 year who were admitted to the pediatric department of Seoul National University Children's Hospital during the period from 1978 to 1995. Results : 1)...
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