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Case Report
Genetics and Metabolism
A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Clin Exp Pediatr. 2017;60(3):94-97.   Published online March 27, 2017

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3)....

Original Article
Mediating effect of perceived stigma against epilepsy on quality of life among parents with epileptic child
Nho Eun Kim, Sung Min Cho, Dong Wook Kim
Clin Exp Pediatr. 2009;52(9):1005-1014.   Published online September 15, 2009

Purpose:Epilepsy of child may cause high level of psychosocial difficulties for parents including stigmatization and stress and therefore worsen their quality of life (QOL). The purpose of this study was to evaluate the mediating effect of perceived stigma against epilepsy on QOL among parents with epileptic child. Methods:Two hundred and sixty parents of epileptic child recruited from five separated university...
Assessment of parental understanding of epilepsy and effects of educational programs in an epilepsy camp
Sung Min Cho, Soon Hak Kwon, Doo Kwun Kim, Jun Sik Kim, Han Koo Moon, Hye-Eun Se, Kye Hyang Lee, Eun Ju Lee, Jun Hwa Lee, Nho Eun Kim
Clin Exp Pediatr. 2009;52(5):549-556.   Published online May 15, 2009
Purpose : To assess parental knowledge and understanding of epilepsy including social stigma and evaluate the effects of educational programs on parents in an epilepsy camp. Methods : We conducted an epilepsy camp on August 23-24, 2008, at Gyeongsan. Twenty families with an epileptic child each participated in the camp. We performed a survey before and after the camp to...
Predisposing factors to nipple confusion
Ji Hyun Kim, Og Ryeon Cha, Yu Kyung Seo, Sun Ju Lee, Sung Min Cho, Byung Chan Park
Clin Exp Pediatr. 2008;51(4):362-366.   Published online April 15, 2008
Purpose : The purpose of this study is to investigate the predisposing factors for nipple confusion by using questionnaires. Methods : From October, 2005 to October, 2006, we performed a survey on guardians of neonates who had been admitted to the nursery at Dongguk University Medical Center and were discharged 10 to 14 days before the survey. We reviewed their medical...
Case Report
A Case of Klippel-Trenaunay Syndrome Combinded with Sturge-Weber Syndrome
Mi Young Kim, So Young Lee, Na Yeon Kim, Sun Ju Lee, Won Duck Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 2003;46(9):909-912.   Published online September 15, 2003
Klippel-Trenaunay syndrome is a rare mesodermal phakomatosis characterized by cutaneous haemangiomata(usually unilateral and involving an extremity), venous varicosities and osseous and soft tissue hypertrophy, of the affected limb. Sturge-Weber syndrome, also a mesodermal pharkomatosis, is characterized by a port-wine nevus, which is present from birth and covers the face and cranium in the territory of the first division of the...
A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)
So Young Lee, Sung Min Cho
Clin Exp Pediatr. 2003;46(8):831-835.   Published online August 15, 2003
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type)...
Original Article
A Comparative Study of Parental Stress in Families with Epileptic Children
Bo-Young Kim, Sung Min Cho
Clin Exp Pediatr. 2002;45(10):1251-1262.   Published online October 15, 2002
Purpose : The purpose of this study is to assess and compare the stress of mothers and fathers in families with epileptic children, and to assess contributing factors to their stress. Methods : We used a family stress survey with 35 questionnaires to obtain data concerning the parents' perceived stress. Data were analyzed with SPSS 8.0 program using Pearson correlation coefficient, oneway ANOVA, and...
Case Report
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 Pericentric Inversion of Chromosome 5(p15.1q11.2)
Sun Ju Lee, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2000;43(10):1404-1408.   Published online October 15, 2000
Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the cri-du- chat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and...
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....
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...
A Case of Hypomelanosis of Ito with Hemimegalencephaly
Sun Ju Lee, Na Yeon Kim, Jin Hwa Jeong, Sung Min Cho, Sung Tae Park, Hyon Joo Kim
Clin Exp Pediatr. 2000;43(8):1137-1141.   Published online August 15, 2000
Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of streaks, patches and swirling hypopigmentation over variable portions of the body surface. Multiple extracutaneous abnormalities involving the central nervous system, musculoskeletal structures and the eyes occur in over two-thirds of the cases. This report describes a patient with typical unilateral cutaneous lesions associated with extracutaneous features, including...
Original Article
A Prospective Study on Ceftriaxone-associated Biliary Pseudolithiasis : A Dose-related Comparison
Sun Ju Lee, Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho, Sung Tae Park, Dae Seob Choi, Hyeon Kyeong Lee
Clin Exp Pediatr. 2000;43(8):1090-1097.   Published online August 15, 2000
Purpose : Ceftriaxone, a parenteral third-generation cephalosporine, is widely used in the treatment of various bacterial infections. It possesses high calcium-binding affinity, forming complexes with calcium in bile salts to develop precipitate that mimics gallstone on ultrasonography. Biliary pseudolithiasis resolves completely with cessation of therapy, but several symptomatic patients have undergone cholesystectomy. We prospectively evaluated the incidence, risk factors and...
The Apoptosis and Expression of Bcl-2, Bcl-xS, Bax Proteins in Fetal Brain after Treating Pregnant Mice with Endotoxin
Sung Min Cho, Seung Sook Kim, Young Seung Hwang
Clin Exp Pediatr. 2000;43(1):97-104.   Published online January 15, 2000
Purpose : Apoptosis is active cell death which plays an important role in developing normal tissues. Various conditions such as genetic defects, drugs, ischemia or infections are known to induce apoptosis. We studied the effect of maternal infection on fetal brain development during pregnancy. Methods : We treated 46 C3H pregnant mice with lipopolysaccharide(LPS) or phosphat-buffered saline and observed the changes in apoptosis and...
Case Report
A Case of Ectopic CD7(+) Congenital Monocytic Leukemia
Na Yeon Kim, Dong Seok Lee, Jin Hwa Jeong, Sung Min Cho, Doo Kwun Kim, Sung Min Choi, Woo Taek Kim, Kyung Im Ha
Clin Exp Pediatr. 1999;42(7):1003-1007.   Published online July 15, 1999
Congenital acute leukemia is a rare disorder with approximately 200 cases reported. It is defined as a childhood leukemia occurring at birth or before 1 month of age at a rate of 1%. Acute leukemias are generally classified according to morphology, cytochemistry and cell surface marker expression. Most leukemias conform to an ordered lineage-specific pattern of gene expression, but a...
A Case of Neonatal Hyperthyroidism with Unilateral Ear Anomaly
Kwang Ok Chung, Na Yeon Kim, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 1998;41(6):845-849.   Published online June 15, 1998
Neonatal hyperthyroidism is a very rare disorder occurring typically in the offspring of patients with Graves' disease or chronic thyroiditis. It is caused by the transplacental passage of thyroid stimulating antibodies(TSAb) from the mother to the fetus. There has been few reports of neonatal hyperthyroidism associated with congenital anomalies. We experienced a case of neonatal hyperthyroidism with unilateral microtia and agenesis of external auditory canal...
Original Article
Retrospective 3-year Clinical Study of Enterobacter Bacteremia in Neonatal Intensive Care Unit
Kwang Ok Chung, Chun Hyuk Chang, Sung Min Cho, Dong Seok Lee, Doo Kwun Kim, Sung Min Choi
Clin Exp Pediatr. 1998;41(4):466-471.   Published online April 15, 1998
Purpose : Enterobacter is one of the important organisms in neonatal intensive care unit. We reviewed the clinical characteristics, underlying diseases, invasive procedures during admission, mortality and antibiotic sensitivity of Enterobacter infection in NICU. Methods : We retrospectively reviewed 21 neonatal patients whose blood cultures yielded Enterobacter between June 1994 and June 1997 at Dongguk University Hospital. Results : Blood cultures were positive in 62...