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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...
Original Article
A Study on the Disease Course and Prognosis of Cyclic Vomiting Syndrome
Hye Ran Yang, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2001;44(10):1141-1156.   Published online October 15, 2001
Purpose : To describe clinical features of cyclic vomiting syndrome(CVS), managements during episodes, prophylactic drugs as long term therapy and to investigate the disease course and prognostic factors of CVS. Methods : Thirty two children who fulfilled the diagnostic criteria of CVS and who presented to Seoul National University Children's Hospital from March 1989 to December 2000, were included. Data were...
Case Report
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 Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome
Su Jin Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2001;44(9):1047-1051.   Published online September 15, 2001
Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973...
A Case of Vascular Leak Syndrome During Induction Chemotherapy of Acute Lymphoblastic Leukemia(T Cell Type)
Kye Wool Kang, Hwang Min Kim, Won Kyu Choi, Baek Keun Lim, Chang Hun Lee
Clin Exp Pediatr. 2001;44(9):1041-1046.   Published online September 15, 2001
Vascular leak syndrome(VLS) is characterized by endothelial damage, which causes extravasation of plasma proteins and fluid from capillaries into the extravascular space. It has been suggested that the increased vascular permeability is the result of an IL-2-induced suppression of endothelin- 1 secretion by endothelial cells, an IL-2-induced activation of the complement cascade or TNF-αrelease from IL-2-activated T-cells. A 13-year-old male patient visited our hospital...
A Case of Apert's Syndrome with Encephalocele and Hypogenesis of Corpus Callosum
Min Kyoung Kwon, Ja Yun Yu, Mi Ran Kim, Kon Hee Lee, Hae Ran Lee, Kwang Nam Kim
Clin Exp Pediatr. 2001;44(7):832-836.   Published online July 15, 2001
Apert's syndrome(acrocephalosyndactyly) is a rare congenital anomaly that is characterized by the combination of premature fusion of multiple cranial sutures primarily involving the coronal suture and severe symmetrical syndactyly of fingers and toes. Some patients of this syndrome have various abnormalities of the central nervous system. We experienced a case of Apert's syndrome with craniofacial malformations, symmetric syndactyly, occipital encephalocele...
Original Article
Radiologic Findings of Hands in Turner Syndrome
Young Sim Han, Moo Young Oh, Young Joon Lee, Woo Yeong Chung
Clin Exp Pediatr. 2001;44(7):817-822.   Published online July 15, 2001
Purposes : Radiologic findings of hands in Turner syndrome(TS) which have been reported were metacarpal sign(MS), carpal sign(CS), phalangeal sign(PS), osteopenia, and delayed bone maturation. The aim of this study is to evaluate the difference of radiologic findings in TS, idiopathic short stature(ISS), and growth hormone deficiency(GHD). Methods : Sixty girls with short stature were studied for chromosome analysis, and...
Childhood Obstructive Sleep Apnea Syndrome : Clinical and Polysomnographic Findings
Yang Jun Park, Dae Kyun Koh, Jin Hee Oh, Soo Jung Lee
Clin Exp Pediatr. 2001;44(7):786-795.   Published online July 15, 2001
Purpose : Although pediatricians may see a lot of patients with clinically suspected obstructive sleep apnea syndrome(OSAS), the actual incidence, clinical and polysomnographic manifestations of OSAS in children have not well been recognized and reported cases are rare. The objective of this study was to evaluate the efficacy of polysomnography in the diagnosis of OSAS in children and to analyze...
Case Report
49, XXXXY Syndrome with Multicystic Kidney in a Neonate
Eun Young Park, Soo Jee Moon
Clin Exp Pediatr. 2001;44(6):714-717.   Published online June 15, 2001
The 49, XXXXY Klinefelter variant is distinctive; classic findings include mental retardation, hypogonadism and radioulnar synostosis. Its incidence is estimated to be 1/80,000 to 1/100,000 male births. We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases....
Zellweger Syndrome : First Confirmed Neonatal Case in Korea
Sung Sin Kim, Yun Hwa An, Yun Sil Chang, Dong Kyu Jin, Won Soon Park, Moon Hang Lee, Jong Won Kim, Hye Kyoung Yoon, Bo Kyoung Kim
Clin Exp Pediatr. 2001;44(6):694-698.   Published online June 15, 2001
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study...
A Case of Klippel-Feil Syndrome
Hyun Ja Kim, Kang Ho Baek, Hyang Do Ko, Man Tak Oh
Clin Exp Pediatr. 2001;44(5):597-601.   Published online May 15, 2001
Klippel-Feil syndrome(KFS) consists of short neck, low posterior hairline and restriction of motion of the neck due to fusion of cervical vertebrae. The typical disorder results from a failure of the normal segmentation of mesodermal somites during 3-8 weeks of gestation. In 1912, the first complete clinical description of this syndrome was given by Klippel and Feil. Feil reported ...
An Infant with Vertical Transmission of Human Immunodeficiency Virus Infection Detected Due to Failure to Thrive
Byung Wook Eun, Ho Kyung Lim, Yun Kyung Kim, Yuong Ho Kwak, Jung Youn Hong, He Sun Jung, Kyung Mo Kim, Hoan Jong Lee
Clin Exp Pediatr. 2001;44(5):592-596.   Published online May 15, 2001
Five to fifteen percent of patients affected by human immunodeficiency virus(HIV) are children in developing countries. In Korea, most of HIV infections in children have been transfusion-related, and cases of vertical transmission have been very rare so far and are usually suspected due to a maternal positive history. We experienced a case of vertical transmission of HIV in a 19...
A Case of Maple Syrup Urine Disease Associated with Acrodermatitis Enteropathica-like Syndrome Due to Iisoleucine Deficinecy During Diet Therapy
Ki Hyang Moon, Oh Sook Gwon, Jung Im Lee, Seong Woo Rho, Seong Sook Jeon, Son Sang Seo
Clin Exp Pediatr. 2001;44(4):469-474.   Published online April 15, 2001
Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect in branched-chain α-ketoacid dehydrogenase(BCKAD) and the classic form causes rapid progressive and overwhelming illness beginning in the first weeks of life, present with poor feeding, lethargy, change in muscle tone,...
Original Article
Clinical Characteristics of Williams Syndrome
Choong Ho Shin, Ho Sung Kim, Sei Won Yang, Jung Yun Choi
Clin Exp Pediatr. 2001;44(4):443-449.   Published online April 15, 2001
Purpose : Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral characteristics of children and adults with WS confirmed by fluorescence in situ hybridization. Methods : The clinically suspicious twelve cases with cardiac anomaly were confirmed as WS with fluorescence in...
Case Report
A Case of Streptococcal Toxic Shock Like Syndrome with Pleural Effusion
Jinyoung Song, Keunha Ji, Heeseuk Kim, Jungwoo Rhoo, Dongwook Kim, Jongkook Lee
Clin Exp Pediatr. 2001;44(2):200-204.   Published online February 15, 2001
Streptococcal toxic shock like syndrome is a rapidly progressive and a fatal disease like staphylococcal toxic shock syndrome. In spite of the wide expansion and development of potent antibiotics, streptococcal infection still threatens human being. Recently we experienced a patient with toxic shock like syndrome who was suffered from fever and neck pain with rapid progression to hypotension and multiorgan...
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...