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Case Report
A Case of Raine Syndrome
Hye Jin Park, Jeong Jin Lee, Jeong Sik Seo, Hyo Jin Kim, Je Yong Choi, Jun Hwa Lee, Un Seok Nho, Hai Lee Chung, Woo Taek Kim
Clin Exp Pediatr. 2003;46(1):91-94.   Published online January 15, 2003
Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial...
A Case of Moyamoya Disease in a Child with Alagille Syndrome
Mi Rang Lim, So Yaun Lee, Deok Soo Kim, Kyung Mo Kim, Tae Sung Ko
Clin Exp Pediatr. 2003;46(1):86-90.   Published online January 15, 2003
Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse...
Original Article
A Clinical Study of the Acute Respiratory Distress Syndrome in Children
Taek Jin, Dong Soo Kim, Dong Hwan Shin
Clin Exp Pediatr. 2003;46(1):42-50.   Published online January 15, 2003
Purpose : The acute respiratory distress syndrome(ARDS), an acute form of severe alveolar-capillary injury evolving after a direct or indirect lung insult is thought to be a common cause of respiratory failure though not many clinical studies on the subject have been made yet. Methods : Between January 1992 and December 2001, we conducted a retrospective study on 33 children who...
Case Report
A Case of Pseudo-Bartter's Syndrome Due to Hypertrophic Pyloric Stenosis
Yoon Hee Kim, Yoon Hee Kim, Tae Ho Lee, Tae Ho Lee, Hong Bae Kim, Hong Bae Kim
Clin Exp Pediatr. 2002;45(11):1430-1434.   Published online November 15, 2002
We report a 3-month old boy admitted to our hospital with Bartter's syndrome like symptoms and laboratory findings, which were vomiting, failure to thrive, hypochloremic and hypokalemic metabolic alkalosis associated with hyperreninemia, hyperaldosteronism and normal blood pressure. However, the urine chloride level was low. Hypertrophic pyloric stenosis was diagnosed through abdominal ultrasonography. Fredet-Ramstedt operation was done after electrolyte correction. After...
A Case of Melkersson-Rosenthal Syndrome
Dae Hun Pee, Yo Won Na, Ki Young Chang, Woo Keun Seo, Kee Hyoung Lee, Baik-Lin Eun
Clin Exp Pediatr. 2002;45(10):1292-1297.   Published online October 15, 2002
Melkersson-Rosenthal syndrome(MRS) is a rare disorder, having a symptom triad of recurrent facial palsy, orofacial swelling and fissured tongue(lingua plicata). This disorder is usually recurrent or progressive, and monosymptomatic or oligosymptomatic forms have been reported to be more common than classic forms. Generally, MRS occurs in young adults at the end of the second decade of life and incidence of the disease in childhood...
A Case of Systemic Capillary Leak Syndrome in a Child
Taeg Young Lee, Yoo Mi Chung, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong, Yong Choi
Clin Exp Pediatr. 2002;45(10):1292-1297.   Published online October 15, 2002
Systemic capillary leak syndrome(SCLS) is a rare disorder of unknown etiology, which is characterized by recurrent attacks of hypotension, hemoconcentration, and hypoalbuminemia. Urinary or enteric loss of protein is not demonstrated. It is often associated with monoclonal gammopathy, but does not manifest multiple myeloma. Since Clarkson et al. described the first case in a 34- year-old woman, about 50 cases have been reported in...
A Case of Fetal Valproate Syndrome Associated with Both Elbow Joint Contractures
Yun Chang Choi, Eun Young Kim, Kynug Rye Moon, Young Il Rho
Clin Exp Pediatr. 2002;45(10):1288-1292.   Published online October 15, 2002
Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been...
Original Article
Mutational Analysis of MECP2 Gene in 34 Rett Syndrome
Sang Jo Park, Tae Gyu Hwang, Byeong Hee Son, Chul Min Kim
Clin Exp Pediatr. 2002;45(10):1263-1272.   Published online October 15, 2002
Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2...
Effect of Nasal Continuous Positive Airway Pressure after Early Surfactant Therapy in Moderate Respiratory Distress Syndrome
Eun Ji Kim, Hae Sook Kim, Man Hoe Hur, Sang Geel Lee
Clin Exp Pediatr. 2002;45(10):1204-1212.   Published online October 15, 2002
Purpose : Early surfactant therapy with either gentle ventilation, high-frequency ventilation or aggressive weaning of mechanical ventilation are principles for the treatment of respiratory distress syndrome(RDS). We studied to determine the accessibility of noninvasive nasal continuous positive airway pressure(CPAP) rather than mechanical ventilation by invasive intubation after early surfactant therapy. Methods : The study group consisted of 14 infants who were born and diagnosed with...
Case Report
A Case of Satoyoshi Syndrome Presented with Progressive Muscular Spasm and Alopecia
Kyung Ran Son, Jin Hwa Kook, Byung Ju Kim, Sung Jin Kim, Jae Sook Ma
Clin Exp Pediatr. 2002;45(9):1165-1169.   Published online September 15, 2002
Satoyoshi syndrome(generalized Komuragaeri disease) is a rare disorder of unknown cause, characterized by progressive, painful, intermittent muscle spasms and alopecia. Endocrinopathy with amenorrhea, secondary skeletal abnormalities, and diarrhea or unusual malabsorption are frequently seen. It seems that autoimmunity may play a role in its pathogenesis. We report a 13-year-old girl with characteristic manifestations of the syndrome. She was treated with...
A Case of Alport Syndrome Associated with Diffuse Esophageal Leiomyomatosis
Jin Young Jung, Cheol-Min Kim, Yean Jung Lim, Ja Hyung Kim, Chong Woo You, Bo-Hwa Choi, Soo-Joung Hong, Young Seo Park
Clin Exp Pediatr. 2002;45(9):1160-1164.   Published online September 15, 2002
University of Ulsan, Seoul, Korea We report a case of Alport syndrome associated with esophageal leiomyomatosis, presenting as recurrent pneumonia. A 5-year old girl who had a history of cataract visited the out patient clinic with a complaint of recurrent wheezing and respiratory difficulty which had started five months previously. Chest magnetic resonance image(MRI) and esophagography, checked on the suspicion of...
Two Cases of Wolff-Parkinson-White Syndrome in a Family
Chan Uhng Joo, So Hee Lim, Pyung Han Hwang
Clin Exp Pediatr. 2002;45(9):1150-1154.   Published online September 15, 2002
Wolff-Parkinson-White(WPW) syndrome is characterized by electrographic evidence of ventricular preexcitation, which predisposes to supraventicular arrhythmias. Familial occurrence of WPW syndrome is uncommon. We observed two affected siblings in a family. Five members of the family underwent 12-lead electrocardiography and echocardiography. Although known genetic abnormality of the 7q34-q36(PRKAG2) for the familial WPW syndrome was evaluated, the mutation was not detected in...
A Case of Stevens-Johnson Syndrome Plus Vanishing Bile Duct Syndrome Associated with Ibuprofen Use
Jee Yee Choi, Su Young Kim, Soon Ok Byun, Jae Hong Park
Clin Exp Pediatr. 2002;45(9):1146-1149.   Published online September 15, 2002
Acute vanishing bile syndrome is a cause of progressive cholestasis. It is most often drug or toxin related. It's pathogenesis is unknown. Stevens-Johnson syndorme is a well-recognized immune complex-mediated hypersensitivity reaction. It is induced by drug or infection. It has classic systemic, mucosal, and dermatologic manifestations. We report a case of a 14 years old female suffering from Stevens-Johnson syndrome...
Original Article
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
Ji Eun Lee, Kwang Bin Moon, Jong Hee Hwang, Eun Kyung Kwon, Sun Hee Kim, Jong Won Kim, Dong Kyu Jin
Clin Exp Pediatr. 2002;45(9):1126-1133.   Published online September 15, 2002
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from...
Electrocardiographic and Echocardiographic Characterisitics of Wolff-Parkinson-White Syndrome in Preschool Children
Jeoung Min Chu, Hyun Sup Sim, Soo Chul Cho, Chan Uhng Joo
Clin Exp Pediatr. 2002;45(9):1097-1105.   Published online September 15, 2002
Purpose : This study was conducted to estabilish the prevalence, clinical features and relationship between ECG findings and echocardiographic findings of Wolff-Parkinsion-White(WPW) syndrome in asymptomatic preschool children. Methods : An electrocardiographic screening study was performed on 77,824 preschool children in Jeonbuk province from April, 1999 to August, 2001. Patients with WPW syndrome underwent echocardiographic study. Results : Twenty three patients with WPW...
Sudden Unexpected Death in Infancy (Analysis of 34 Cases Including 13 Autopsies)
Yeo Ok Moon, Hee Kyoung Choi, Jeoung-A Her, Woo Jong Shin, Myoung-A Kim, Seong Yong Lee, Seong Hee Jang, Eun Sil Dong, Chong Jae Kim, Young Min Ahn, Je Geun Chi
Clin Exp Pediatr. 2002;45(9):1065-1074.   Published online September 15, 2002
Purpose : The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy. Methods : We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical...
Case Report
Atypical Kawasaki Disease Presented with Toxic Shock Syndrome
Kyoung Yeon Lee, Jun Eun Park, Woo Sung Park
Clin Exp Pediatr. 2002;45(8):1048-1051.   Published online August 15, 2002
Toxic shock syndrome(TSS) is clinically similar to Kawasaki disease(KD) in that both of them are characterized by fever, desquamating rash and mucous membrane erythema. In contrast the main feature of TSS is hypotension, whereas the complication of KD is coronary vasculitis. We report an 8-year-old boy who fulfilled the crireria for TSS and KD. Initially he showed clinical features of...
A Case of Marshall-Smith Syndrome
Yeo Ok Moon, Woo Jong Shin, Youn Jeong Shin, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2002;45(7):906-911.   Published online July 15, 2002
Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea.
Original Article
Renal Anomalies in Children with Turner Syndrome
Ji Young Kim, Sun Young Hong, Young Mi Park, Yong Hoon Park, Woo Yeong Chung
Clin Exp Pediatr. 2002;45(7):891-895.   Published online July 15, 2002
Purpose : The prevalence of renal anomalies in Turner syndrome(TS) has been reported to vary from 33% to 60%. The purpose of this study was to clarify the true incidence of renal malformations in Korean TS. Methods : We evaluated 33 patients with Turner syndrome diagnosed by karyotype in Inje University Busan Paik hospital and Youngnam University from January 1995....
Thymus Size and Its Relationship to Perinatal Diseases; Respiratory Distress Syndrome and Intrauterine Growth Retardation
Sun Mi Chung, Woo Taek Kim
Clin Exp Pediatr. 2002;45(7):855-861.   Published online July 15, 2002
Purpose : Thymus size can be affected by several factors and perinatal diseases can be estimated by its size. The purpose of this study was to search for a relationship between cardiothymic/ thoracic(CT/T) ratio and perinatal diseases such as neonatal respiratory distress syndrome(RDS) and intrauterine growth retardation(IUGR) by measuring the width of the cardiothymic shadow at the level of the...
Case Report
Hemophagocytic Syndrome with Kawasaki Disease and Peripheral Gangrene
Hwa Jun Yun, Ko Woon Jeon, Hwang Min Kim, Seok Won Park, Young Uh
Clin Exp Pediatr. 2002;45(5):664-668.   Published online May 15, 2002
A twenty six months-old boy developed hemophagocytic syndrome during the course of Kawasaki disease. Despite the appropriate treatment modalities for Kawasaki disease, he developed thrombocytopenia, hepatomegaly, high-grade fever, hypertriglyceridemia, peripheral gangrene, and evidence of hemophagocytosis in bone marrow biopsy. Although the course was stormy, he responded well to a combination therapy of corticosteroid and etoposide.
A Case of Rett Syndrome with MECP2 Gene Mutation
Jin Kyung Kim, Chang Seok Ki, Jong Won Kim
Clin Exp Pediatr. 2002;45(4):540-544.   Published online April 15, 2002
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...
Two Cases of Gitelman's Syndrome Diagnosed by Renal Clearance Study
Tae Hwa Kim, Seung Jun Kim, Yu Kyung Seo, Jung-Yeon Shim, Hye Lim Jung, Moon Soo Park, Dong Hyuk Kum
Clin Exp Pediatr. 2002;45(3):413-417.   Published online March 15, 2002
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. In this study, we performed renal clearance studies to differentiate Gitelman's from Bartter's syndrome and to confirm the diagnosis in two patients clinically diagnosed with Gitelman's syndrome. Each patient was hydrated...
A Case of Partial DiGeorge Syndrome in Prematurity
Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son
Clin Exp Pediatr. 2002;45(3):383-389.   Published online March 15, 2002
We experienced a case of partial DiGeorge syndrome in a 35＋5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL,...
Original Article
Short-term Results of Hematopoietic Stem Cell Transplantation for Children with Myelodysplastic Syndrome
Jin Lee, Soh Yeon Kim, Bin Cho, Pil Sang Jang, Nak Gyun Chung, Hack Ki Kim
Clin Exp Pediatr. 2002;45(3):370-375.   Published online March 15, 2002
Purpose : In most cases, myelodysplastic syndrome(MDS) transforms into a more aggressive state or acute myelogenous leukemia; it's prognosis is very poor. It is believed that hematopoietic stem cell transplantation(HSCT) is the only curative treatment of MDS, but available data in children are very sparse. In this report, the short term outcome of HSCT in childhood MDS was analyzed. Methods :...
Case Report
A False Diagnosis of Hypoplastic Left Heart Syndrome in a Fetus
Youn Jeong Shin, Sung Hee Jang, Jung Yun Choi, Eun Sook Han
Clin Exp Pediatr. 2002;45(2):267-272.   Published online February 15, 2002
Typical hypoplastic left heart syndrome(HLHS) is a distinct pathologic entity with aortic atresia, mitral atresia, very hypoplastic or absent left ventricle and thread like ascending aorta. Occasionally, the lesser degree of hypoplasia is found and is called hypoplastic left heart complex(HLHC) by some authors. This HLHC is often associated with critical aortic stenosis. Fetal echocardiography has enabled us to observe...
Original Article
Clinical Study of the Correlation of Tumor Necrosis Factor Alpha and the Proteinuria of Henoch-Schönlein Nephritis and Idiopathic Nephrotic Syndrome
Dong-Ho Jeong, Jeong-Hyun Park, Hye-Cheon Jeong, Hyun-Hoe Koo, Jun-Ho Lee, Tae-Sun Ha
Clin Exp Pediatr. 2002;45(2):240-246.   Published online February 15, 2002
Purpose : It is not clear that the development of glomerular injury and aggravation by tumor necrosis factor alpha(TNF-α) is related to intrarenal or serum concentration of TNF-α. So, we studied the relationship between the concentration of TNF-α and aggravation of glomerular damage in the Henoch-Schönlein nephritis(HSN) and idiopathic nephrotic syndrome(INS). Methods : We collected the sera and urines of...
Study on the Frequency of Receptor Insensitivity to Androgen Using the Androgen-receptor Binding Assay in the Genetic Male Children with Abnormalities of Sexual Differentiation
Choong Ho Shin, Sei Won Yang
Clin Exp Pediatr. 2002;45(1):95-102.   Published online January 15, 2002
Purpose : The development of external genitalia in genetic male is dependent on the transcriptional regulatory activity of dihydrotestosterone(DHT)-androgen receptor complex in the genital skin. The abnormality of androgen receptor encompasses a wide range of phenotypes. We investigated the androgen receptor binding capacity of genetic males with ambiguous genitalia(grade was determined by Prader grade) for the availability as screening test. Methods : The binding capacity...
Case Report
A Case of the Use of Intravenous Immunoglobulin of Treatment for HyperIgE Syndrome
Yoon Ji Choi, Dong IL Lee, Hong Bae Kim
Clin Exp Pediatr. 2001;44(11):1301-1304.   Published online November 15, 2001
Hyper-IgE syndrome is a rare congenital immune deficiency disease characterized by severe eczema, recurrent infection of the sinopulmonary tract, cold subcutaneous abscess and high serum IgE levels. It is an autosomal dominant disease with incomplete penetrance. We examined the case of a 12 month old infant with hyperIgE syndrome since neonate. The diagnosis of hyper IgE syndrome was made because...
Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin, Han-Wook Yoo
Clin Exp Pediatr. 2001;44(10):1201-1205.   Published online October 15, 2001
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic β islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a...
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