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Case Report
A Case of Ramsay-Hunt Syndrome
Ok Ja Jeong, Se Wook Oh, Se Chang Ham, Yong Won Park
Clin Exp Pediatr. 2000;43(12):1608-1612.   Published online December 15, 2000
Ramsay Hunt Syndrome was initially described by Ramsay Hunt in 1907 as herpes zoster of the geniculate ganglion. The frequency of RHS in patients with herpes zoster has been calculated to be about 1%. RHS affects mostly adults; however a small number of children with herpes zoster oticus have been reported. We describe a case of RHS in a healthy...
Original Article
Clinical Features of Hemolytic Uremic Syndrome in Children
Ju Eun Lee, Su Yung Kim
Clin Exp Pediatr. 2000;43(11):1473-1479.   Published online November 15, 2000
Purpose : Hemolytic uremic syndrome(HUS) is the most common cause of renal failure in childhood in western countries, but it has been a relatively rare disease in Korea. To analyze the clinical and epidemiologic characteristics of HUS in Korea, we reporte our experience. Methods : We reviewed retrospectively the medical records of 9 patients who were diagnosed the hemolytic uremic syndrome...
Short-term Effects of Inhaled Corticosteroid Following Early Systemic Corticosteroid Administration in Premature Babies with Respiratory Distress Syndrome : A Preliminary Report
Hyeon-Soo Lee
Clin Exp Pediatr. 2000;43(11):1440-1445.   Published online November 15, 2000
Purpose : To asses the short-term effects of the topical corticosteroid, budesonide administered by metered dose inhaler(MDI) and spacer(Aerochamber MV 15) following systemic corticosteroid in premature babies with respiratory distress syndrome at birth. Methods : 19 premature babies <1800gm were randomly assigned to receive steroids(n=9) or not (n=10). The steroid group(n=9, GA[gestational age]=29.6¡¾2.9 weeks, BW[birth weight]=1.29¡¾0.35kg) received systemic dexamethasone for 48...
Immunologic Characteristics of CATCH 22 Syndrome
Hye Young Ryu, Eun Kyung Jo, Eun Jung Cheon, Hong Ryang Kil, Jae Ho Lee
Clin Exp Pediatr. 2000;43(11):1423-1429.   Published online November 15, 2000
Purpose : Microdeletion of chromosome 22q11.2 are associated with DiGeorge syndrome(DGS), velocardiofacial syndrome(VCFS) and conotruncal anomaly face syndrome(CTAFS). DGS was originally described as an immunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia. But the frequency & severity of immunodeficiency of other clinical syndromes associated with the chromosome 22q11 deletion has not been investigated. This...
Case Report
A Case of Omphalocele-Exstrophy-Imperforate Anus-Spina Bifida(OEIS syndrome)
Hyeon Jong Yang, Lae Kyung Park, Han Jin Kim, Hye Kyung Lee, Young Chang Kim
Clin Exp Pediatr. 2000;43(10):1386-1389.   Published online October 15, 2000
Omphalocele-exstrophy-imperforate anus-spinal defects(OEIS Syndrome) is a single defect in early mesoderm, and its incidence is about one in 250,000. If was first described by Littre in 1709. The characteristics of this disorder is omphalocele, extrpohy of bladder, imperforate anus and spina bifida. There have been reports of longtime survival made possible by several operations, but for most cases normal life...
A Case of Fryns Syndrome
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2000;43(9):1269-1273.   Published online September 15, 2000
Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear....
Original Article
Clinical Evaluation of Cyclic Vomiting Syndrome
Jung Mee Cheon, Mee Ryung Um, Mun Hyang Lee, Nam Seon Beck
Clin Exp Pediatr. 2000;43(9):1223-1231.   Published online September 15, 2000
Purpose : To obtain basic data on cyclic vomiting syndrome(CVS) and clinical findings of CVS. Methods : Fifteen patients diagnosed as CVS from April 1995 to July 1999 were enrolled in this study. Results : Among 15 children with CVS(11 boys, 4 girls), 4 patients were put in the migraine group and 11 patients in non-migraine group. The onset age...
Case Report
A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2000;43(8):1142-1148.   Published online August 15, 2000
Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(q11-13)) was reported by Ledbetter in 1981, which was thought to be...
Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome
Ki Hea Cho, Jung Hwa Lee, Kee Hyoung Lee, Kwang Chul Lee, Ji Tae Choung, Chang Sung Son, Young Chang Tockgo
Clin Exp Pediatr. 2000;43(8):1111-1115.   Published online August 15, 2000
Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling the actors in Japanese Kabuki. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. Although most karyotypes of KMS are shown to be normal, there have been some...
Original Article
A Study of Surface Physical Properties of New Surfactant Using Synthetic Peptides of Surfactant Protein-B
Chong-Woo Bae, Yong-Mook Choi, Joo Hyun Kang, Sang-Chul Lee, Kil Lyong Kim, Kyung-Soo Hahm
Clin Exp Pediatr. 2000;43(8):1059-1067.   Published online August 15, 2000
Purpose : To produce a new generation of artificial pulmonary surfactant(PS), surfactant protein (SP)-B from human PSwas isolated, and the amino acid sequences of these proteins were studied. Artificial peptides of human SP-B were synthesized. New artificial PS preparations which were composed of phospholopids and two artificial synthetic SP-B peptides were made, and the surface physical properties of these new PS preparations were tested. Methods...
Case Report
A Case of Apert`s Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon Ⅲa Mutation
Hyung Su K, Pyl Soon Yang, Jee Yeoun Kang, Ok Young Kim, Chul Hae Ku, Wha Mo Lee
Clin Exp Pediatr. 2000;43(7):1006-1011.   Published online July 15, 2000
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital...
Two Cases of Thin Basement Membrane Nephropathy presented with Minimal Change Nephrotic Syndrome
Young Mee Seo, Jae Gul Chung, En Sil Yu, Jin Yeong Jeong, Young Seo Park
Clin Exp Pediatr. 2000;43(7):978-982.   Published online July 15, 2000
Thin basement membrane nephropathy(TBMN) is defined histologically as follows : 1) By light microscopy only minor abnormalities are detected in the glomeruli at most minor mesangial widening. 2) By electron microscopy, diffuse thinning of glomerular basement membrane is demonstrated. 3) By immunofluorescence, absence of immunoglobulins and complement components is demonstrated. 4) Alport`s syndrome and systemic diseases that may affect the...
A Case of T-cell Acute Lymphoblastic Leukemia presented with Spontaneous Tumor Lysis Syndrome and Superior Vena Cava Syndrome
Eun Jung Shim, Hyun-Sang Cho, Jae Kook Cha, Jae Kook Cha, Chong Young Park
Clin Exp Pediatr. 2000;43(7):974-977.   Published online July 15, 2000
Acute spontaneous tumor lysis syndrome is a condition resulting from the rapid release of cellular breakdown products into the circulation due to massive cytolysis occurring before start of treatment. It occurs most often in Burkitt' s lymphoma and T-cell ALL, both of which have been well described, following cytotoxic chemotherpy and other single agent administrations. However, only a handful of spontaneous acute tumor lysis...
Original Article
A Study of Clinical Features of Acute Tumor Lysis Syndrome in Children
Ick-Jin Song, Young-Tak Lim
Clin Exp Pediatr. 2000;43(7):952-958.   Published online July 15, 2000
Purpose : Tumor lysis syndrome is characterized by hyperuricemia, hyperphosphatemia, hyperkalemia and hypocalcemia due to destruction of tumor cells. The purpose of this study is to estimate in children the incidence, onset time, differences in outcomes between hemodialysis and conservative therapy, and predictive factor of tumor lysis syndrome before treatment with chemotherapy. Methods : Subjects were 108 children who had received...
Case Report
A Case of Shaken Baby Syndrome
Jin Choi, Hyun Hee Kim, Won Bae Lee
Clin Exp Pediatr. 2000;43(6):851-855.   Published online June 15, 2000
Shaken baby syndrome refers to the group of nonaccidental injuries occuring in infants and children as a consequence of violent shaking. The characteristic injuries include subdural and subarachnoid hemorrhages, retinal hemorrhages, traction-typed metaphyseal fracture of long bone and fractures of the ribs. General physical findings may include bruising and burns, but sometimes no extracranial injuries are detected. Affected children are...
Mauriac Syndrome in a Patient with Type I Diabetes Mellitus
Ji Yeoun Kang, Pil Soon Yang, Hyung Su Kim, Ok Young Kim, Chul Hoi Koo, Wha Mo Lee
Clin Exp Pediatr. 2000;43(6):837-841.   Published online June 15, 2000
Mauriac syndrome consists of a triad of poorly controlled diabetes, profound growth retardation and hepatomegaly. We experienced a case of Mauriac syndrome in an 18-year-old girl who had poorly controlled diabetes mellitus, short stature, hepatomegaly and central obesity. Also at the time of examination, she had complications of diabetic cataract and nephropathy. Fourteen years prior to admission, she was diagnosed...
Original Article
Hemorrhagic Shock and Encephalopathy Syndrome as a Cause of Sudden Death in Infants
Jong Won Lee, Chang Han Lee, Ki Sup Chung
Clin Exp Pediatr. 2000;43(6):814-819.   Published online June 15, 2000
Purpose : To evaluate the clinical characteristics, treatments and outcome of patients with hemorrhagic shock and encephalopathy(HSE) syndrome. Methods : We performed a clinical study on 14 patients who were diagnosed as hemorrhagic shock and having encephalopathy syndrome in the Department of Pediatrics, from 1984 to 1998. Age, sex, clinical symptoms and physical findings at admission, the most deranged laboratory findings,...
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 Median Cleft Face Syndrome
Kyeong Hee Suh, Dae Chul Jeong, Jae Kyun Hur, Chang Kyu Oh
Clin Exp Pediatr. 2000;43(4):583-587.   Published online April 15, 2000
Median cleft face syndrome is diagnosed by two or more of the following anomalies : ocular hypertelorism, cranium bifidum occultum, median cleft nose, median cleft lip and median cleft premaxilla. The most consistent and prominent ocular finding associated with this syndrome is hypertelorism. We experienced a case of median cleft face syndrome which had orbital hypertelorism, cranium bifidum occultum, bifid...
A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome
Hye Young Han, Gwang Hoon Lee, Eell Ryoo, Kang Ho Cho, Mi Jin Jung, Gil Hyun Kim, Hak Soo Lee, Hyuni Cho
Clin Exp Pediatr. 2000;43(4):578-582.   Published online April 15, 2000
Short rib-polydactyly syndrome(SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia...
A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization(FISH)
Eun Sil Dong, Mee Jeong Kim, Young Min Ahn, Myoung Sook Koo, Hwan Keuk Yong, Anna Lee
Clin Exp Pediatr. 2000;43(3):438-443.   Published online March 15, 2000
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4(4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by...
Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy
Hee Jung Chung, Young Rae Kim, Man Yong Han, Sook Hwan Lee
Clin Exp Pediatr. 2000;43(3):417-422.   Published online March 15, 2000
The Prader-Willi syndrome(PWS) and Angelman syndrome(AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically suspected and can be confirmed by genetic laboratory tests. However, their diagnosis remains difficult in neonates and early infants because many features of the syndromes change with age and the typical features...
Original Article
The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
Young Ho Yang, Duk Hee Kim, So Chung Chung, Yong Seok Sohn, Mee Sun Kim
Clin Exp Pediatr. 2000;43(3):360-364.   Published online March 15, 2000
Purpose : To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. Methods : Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome...
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 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Jae Woo Lim, Jong Su Shin, Kyuchul Choeh, Chang Su Na, Tae Il Han
Clin Exp Pediatr. 2000;43(2):278-282.   Published online February 15, 2000
Megacystis Microcolon Intestinal Hypoperistalsis(MMIH) Syndrome is a rare cause of functional neonatal bowel obstruction, characterized by hypoperistalsis, narrow distal ileum and colon, and bladder distension. We report a case of MMIH syndrome and review the literature. The patient was born after 34 weeks of gestation with marked abdominal distension. Her birth weight was 2,830g with 276ml of urine drained by...
A Case of Pallister-Killian Syndrome
Ju Suk Lee, Sung Hun Kim, Jung A Choi, Sang Yuk Nam, Su Young Kim
Clin Exp Pediatr. 2000;43(2):274-277.   Published online February 15, 2000
Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy in chromosomal study. We report on a 17-month-old male infant with Pallister-Killian syndrome. He was admitted in our hospital for investigation of developmental delay and myoclonic seizure. He was diagnosed...
A Case of Greig Cephalopolysyndactyly Syndrome
Seon Hee Shin, Je Woo Kim, Young Ah Lee, Hae Sun Yoon, Hyun Chan Cho
Clin Exp Pediatr. 2000;43(1):128-132.   Published online January 15, 2000
Greig cephalopolysyndactyly syndrome(GCPS) is a disorder characterized by postaxial polydactyly of the hand, broad or occasionally bifid thumbs, preaxial polydactyly of the feet, broad halluces, syndactyly of the fingers or toes, macrocephaly, frontal bossing, hypertelorism and a broad nasal bridge. Intelligence is usually normal, although borderline IQ has been reported. Advanced bone age, mild hydrocephalus, craniosynostosis and agenesis of the corpus callosum are occasionally associated...
A Case of Ornithine Transcarbamylase(OTC) Deficiency
Soonhak Kwon, Yejhin Lee, Byung-Ho Choe, Sangkwon Lee
Clin Exp Pediatr. 2000;43(1):123-127.   Published online January 15, 2000
OTC deficiency is an X-linked disorder in which the synthesis of urea is impaired. OTC catalyzes the synthesis of citrulline from carbamyl phosphate and ornithine. Complete or partial deficiencies of this enzyme may lead to Reye syndrome like picture such as encephalopathy, hepatic dysfunction, hyperammonemia, etc. We recently had a case that was presented as recurrent Reye syndrome, and was...
Original Article
Comparison of Preventive Effect of RDS and Neonatal Morbidity between Antenatal Dexamethasone versus Ambroxol Administration
Eun Jeong, Kim, Seong Sook Jeon, Son Sang Seo
Clin Exp Pediatr. 2000;43(1):13-22.   Published online January 15, 2000
Purpose : Antenatal dexamethasone administration is associated with a significant lowering respiratory distress syndrome(RDS) incidence, but can increase neonatal infection. Ambroxol has been accepted as an alternative treatment to dexamethasone and is of at least equal efficacy but without adverse reaction. The aim of this study was to evaluate the effectiveness of ambroxol versus dexamethasone in RDS incidence and neonatal...
Inhalation of Bronchodilator Aerosol by Metered-dose Inhaler and Spacer in Neonatal Respiratory Distress Syndrome
Hyeon-Soo Lee
Clin Exp Pediatr. 1999;42(12):1668-1675.   Published online December 15, 1999
Purpose : To examine the clinical effects of two bronchodilator agents, salbutamol and ipratropium bromide, administered by metered-dose inhaler(MDIS) to preterm infants with respiratory distress syndrome(RDS) during mechanical ventilation. Methods : This study included 8 ventilated preterm infants with RDS, at a postnatal age of 1 week. The effects of single doses of salbutamol(2puffs, 200mcg) and ipratropium bromide(2 puffs, 36mcg) and...
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