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Case Report
Genetics and Metabolism
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia
Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Chung Sik Lee, Han Wook Yoo
Clin Exp Pediatr. 2011;54(3):137-140.   Published online March 31, 2011

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of...

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the...

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
Won Ik Choi, Ji Hye Kim, Han Wook Yoo, Sung Hee Oh
Clin Exp Pediatr. 2010;53(12):1018-1021.   Published online December 31, 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis...

Original Article
The natural history and prognostic factors of Graves' disease in Korean children and adolescents
Seung Min Song, Ji-Seok Youn, Jung Min Ko, Chong Kun Cheon, Jin-Ho Choi, Han Wook Yoo
Clin Exp Pediatr. 2010;53(4):585-591.   Published online April 15, 2010
Purpose : Graves' disease is the most common cause of hyperthyroidism in children and adolescents. In this study, we investigated the natural course and the prognostic factors of Graves' disease in Korean children and adolescents. Methods : One-hundred thirteen (88 girls and 25 boys) patients were included in this study. A retrospective analysis was made of all patients who were diagnosed...
Review Article
Genetic testing in clinical pediatric practice
Han Wook Yoo
Clin Exp Pediatr. 2010;53(3):273-285.   Published online March 15, 2010
Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing....
Case Report
Two cases of Fabry disease identified in brothers
Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
Clin Exp Pediatr. 2010;53(2):235-238.   Published online February 15, 2010
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene...
A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age
Young Won An, Mi Jin Jung, Jee Suk Yu, Young Seok Lee, Han Wook Yoo
Clin Exp Pediatr. 2004;47(7):794-798.   Published online July 15, 2004
The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our...
A Case of Glutaric Aciduria Type 1
Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo
Clin Exp Pediatr. 2002;45(10):1278-1282.   Published online October 15, 2002
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...
A Case of Chronic Active Epstein-Barr Virus Infection with Coronary Aneurysm
Hee Jeong, Bong Seong Kim, Ok Ja Choi, Han Wook Yoo, So Duk Lim, Soo-Jong Hong
Clin Exp Pediatr. 2001;44(6):687-693.   Published online June 15, 2001
Chronic active Epstein-Barr virus infection(CAEBV) is a nonfamilial syndrome that shows a specific immunodeficiency for the Epstein-Barr virus(EBV). CAEBV is characterized by fever, lymphadenopathy, splenomegaly, hepatitis, interstitial pneumonitis, interstitial nephritis, and uveitis. Cardiovascular complications are rare in EBV infection. Patients with CAEBV show characteristically high titers of anti-viral capsid antigen(VCA) IgG antibody and anti-early antigen(EA) antibody, as well as relatively...
A Case of de novo Interstitial Deletion of 17 Chromosome
Kyung Hee Yoon, Hee Cheol Lee, Ai Rhan Kim, Ki Soo Kim, Soo Young Pi, Eul Ju Seo, Han Wook Yoo
Clin Exp Pediatr. 2001;44(4):475-479.   Published online April 15, 2001
This is the first reported case of a unique interstitial deletion involving the long arm of chromosome 17 in a Korean male infant born to parents with normal karyotype. The patient presented with multiple congenital malformations suggestive of chromosomal anomaly including round face, upslanted palpebral fissure, hypertelorism, posteriorly rotated low set ear, micrognathia, microcephaly, finger- like thumb, bilateral hearing loss,...
Original Article
MELAS Syndrome Confirmed by Mitochondrial DNA Analysis in Siblings
Young Ghil Rah, Soo Ahn Chae, In Suk Lim, Dong Keun Lee, Byoung Hun Yoo, Tae Sung Ko, Han Wook Yoo
Clin Exp Pediatr. 1999;42(3):412-418.   Published online March 15, 1999
MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome is a major subgroup of mitochondrial myopathy. Recent advances in molecular genetics revealed specific mutations in mitochondrial DNA which cause MELAS. We described here clinical and molecular genetic findings of sister and brother with MELAS syndrome. For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And the substitution...
The Clinical Study on Marfan Syndrome
Jung Sim Kim, Dong Kyu Jin, See Hwan Ko, Jee Yeon Min, I-Seok Kang, Kye Won Jeon, Yung Lan Choi, Heung Jae Lee, Seung Woo Park, Won Ro Lee, Chong Suh Lee, Sei Yeul Oh, Chang Won Ki, Han Wook Yoo, In Sook Park, Jae Kon Ko
Clin Exp Pediatr. 1998;41(10):1411-1416.   Published online October 15, 1998
Purpose : The aim of this study was to assess the involvement of several organs patients with Marfan syndrome in Korea. Also the clinical features in childhood patients with Marfan syndrome were assessed. Methods : Thirty-eight cases of Marfan syndrome were enrolled in this study. Clinical evaluations of the musculoskeletal, cardiovascular and occular system were performed in all cases. Results : The...
Case Report
A Case of Dietary Treatment of Vitamin B12 Non-responsive Methylmalonic Acidemia
Won Young Song, Ki Soo Kim, Han Wook Yoo
Clin Exp Pediatr. 1997;40(4):549-554.   Published online April 15, 1997
Methylmalonic acidemia is a metabolic disorder of amino acid and fatty acid metabolism. A Female infant, who was diagnosed as methylmalonic acidemia based on findings; methylmalonic aciduria, metabolic acidosis with increased anion gap, hyperammonemia, has been followed up for 9 months. She has been placed on the planned diet according to Ross metabolic formula nutrition support protocol. The diet is...
Original Article
Diaphragmatic Movements in Neonates.
Hee Shang Youn, Han Wook Yoo, Moon Hong Do, Jung Hyun Cho
Clin Exp Pediatr. 1990;33(7):901-906.   Published online July 31, 1990
Right diaphrgmatic movement was recorded in 25 neontes when asleeping or in quietly awake state. Using 5-MHz transducer of Aloka 860 color echocardiography we measured those in the supine flat, supine head up, supine head down and prone flat positions. Results were as follows: 1) Normative data of right hemidiaphragmatic movement of 25 neonates were obtained in the positions. 2) Deaphragmatic movement of posterior third was significantly greater...
Plasma Amino Acid Patterns in Reye's Syndrome.
Han Wook Yoo, Hee Shang Youn
Clin Exp Pediatr. 1989;32(10):1377-1383.   Published online October 31, 1989
The metabolic disturbances of Reye’s syndrome are many and involve carbohydrates, amino acids, free fatty acids, proteins, ammonia and acid-base balance. It has been suggested that the derangement of mitochondrial integrity by an agent or agents unknown leads to a loss of enzyme activity in many metabolic pathways in which t노e mitochondria are involoved. Of primary interests in this study is the abnormalities regarding...
A Clinical Observation on Systemic Lupus Erythematosus in Children.
Han Wook Yoo, Hae Il Cheong, Hoan Jong Lee, Yong Choi, Kwang Wook Ko, Yong Il Kim
Clin Exp Pediatr. 1987;30(5):527-535.   Published online May 31, 1987
To elucidate the clinical characteristics of childhood onset systemic lupus erythematosus (SLE), we carried out a retrospective review on medical records of sixteen patients who were diagnosed as SLE on the base of “the 1982 revised criteria for the SLE” (by American Rheumatism Association) at the Department of Pediatrics, Seoul National University Children’s Hospital between January 1976 and July 1986. The results were summarized...
Plasma Basal Cortisol Level and Its Significance in Minimal Change Neprotic syndrom.
Han Wook Yoo
Clin Exp Pediatr. 1986;29(6):644-652.   Published online June 30, 1986
Morning plasma basal cortisol levels were measured by radioimmunoassay in seventeen patients with minimal change nephrotic syndrome which was proved in fourteen patients pathologically and suggested clinically in three. These patients could be grouped as ten frequent relapsers and seven control group patients who consisted of five infrequent relapsers, one continuing nonresponder and one late responder according to response to...
Idiopathic IgA Nepropathy in Children.
Hae Il Cheong, Han Wook Yoo, Kwang Wook Ko
Clin Exp Pediatr. 1986;29(6):633-643.   Published online June 30, 1986
We analyzed clinical findings, pathological findings and clinico-pathological correlations in 55 children with idiopathic IgA nephropathy confirmed immunopathologically, and the results were as follows; 1) The mean age at onset was 9.65±2.45 years with relatively even distribution in school ages and males outnumbered females by 1.75 : 1. 2) The main mode of presentation was typical...
Case Report
A Case Report Kostmann Syndrome.
Han Wook Yoo, Son Moon Shin, Hyo Seop Ahn, Yong Choi, Chang Yee Hong
Clin Exp Pediatr. 1983;26(3):284-288.   Published online March 31, 1983
Kostmann syndrome (Infantile genetic agranulocytosis), a disease characterized by recurrent infections leading to death in infancy, shows an agranulocytosis with variable monocytosis, eosinophilia in the peripheral blood, accompanied by the maturation arrest of the myelocytic series at the promyelocyte-myelocyte level. A 2 years 3 month old female patient with Kostmann syndrome is reported, who has suffered from recurrent infections since 1 month of age. During...
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