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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...
Case Report
A Case of Toxic Epidermal Necrolysis in Early Infancy
Min Seong Kim, Jeong Nyun Kim, Bang Soon Kim, Hong Joo Kim, Myung Jae Chey, Churl Young Chung
Clin Exp Pediatr. 1999;42(11):1594-1598.   Published online November 15, 1999
Toxic epidermal necrolysis(TEN) is a bullous disorder affecting mainly basal layers of epidermis by hypersensitive reaction. It is rarely reported in infants under six months of age. It can be developed by drug, infection, and vaccination, which makes it difficult to differentiate from staphylococcal scalded skin syndrome(SSSS) especially in early infancy. We report a case of TEN in a 6-week-old...
A Case of Parry-Romberg Syndrome in Neonate
Chun Hyuk Chang, Jin Hwa Jung, Sung Min Cho,, Dae Seop Choi
Clin Exp Pediatr. 1999;42(11):1589-1593.   Published online November 15, 1999
Parry-Romberg syndrome(Progressive hemifacial atrophy), described in the last century by Parry(1825) and Romberg(1846), is a very rare disorder characterized by a slowly progressive and self-limited unilateral(rarely bilateral) atrophy of the faces affecting variably the skin, subcutaneous fat tissues, musculature, connective tissue, cartilage and bones. And this disorder is usually accompanied by contralateral Jacksonian epilepsy, trigerminal neuralgia, and changes in the...
A Case of Infantile Marfan Syndrome
Sun Young Kim, Hee Ju Park
Clin Exp Pediatr. 1999;42(11):1583-1588.   Published online November 15, 1999
Marfan syndrome is infrequently diagnosed early in infancy. The morphologic characteristics and prognosis in infantile Marfan syndrome may be quite different from those in older patients. Characteristic cardiac findings in early life include mitral valve prolapse, valvular regurgitation, and aortic root dilation. Morbidity and mortality may be high for infants diagnosed with Marfan syndrome. Cardiac surgery for cardiovascular complication in...
A Case of Marden-Walker Syndrome
Hyun Jong Cho, Yoon Kyung Lee, Dong Un Kim, Byung Joon Choi, Jin Tack Kim, Ik Jun Lee, Je Geun Chi
Clin Exp Pediatr. 1999;42(10):1471-1474.   Published online October 15, 1999
Original Article
Dysmenorrhea and Premenstrual Syndrome of School Girls in Ansan
Yong Kyu Sohn, Yo Ahn Rho, Young Kyoo Shin, Baik Lin Eun, Sang Hee Park, Young Chang Tockgo
Clin Exp Pediatr. 1999;42(10):1434-1440.   Published online October 15, 1999
Purpose : Menstrual disorders are very common problems in adolescence. Most of them are minor, including mild dysmenorrhea, premenstrual syndrome(PMS) and minor variations in cycle, length, or amount of flow. Dysmenorrhea is the most prevalent among them while PMS is a nebulous condition characterized by a broad spectrum of symptoms. The purpose of this study is to investigate the correlation...
Correlation between Changes of Intrapulmonary Right to Left Shunt and Improvements in Oxygenation after Exogenous Surfactant Administration in Preterm Respiratory Distress Syndrome
Sei Woo Chung
Clin Exp Pediatr. 1999;42(10):1373-1380.   Published online October 15, 1999
Purpose : This study was aimed to investigate the relationship between changes in intrapulmonary right to left shunt(QSP/QT) and improvements in oxygenation during the 2-hr study period after Surfactant-TA(S-TA) administration. Methods : Umbilical arterial blood gases and corresponding respiratory indexes of 27 preterm neonates with respiratory distress syndrome were studied. The neonates were separated into group A(n=20) and group B(n=7) according...
Case Report
A Case of Guillain-Barré Syndrome Coinciding with Bronchial Asthma associated with Mycoplasma Pneumonia
Kyung-Yil Lee, Dong-Joon Lee, Ji-Whan Han, Sang-Won Ch, John-Sung Lee, Kyung-Tai Whang
Clin Exp Pediatr. 1999;42(8):1165-1169.   Published online August 15, 1999
Mycoplasma pneumoniae is the most common etiologic agent of pneumonia in school-aged children and young adults. It involves not only the respiratory system but includes extrapulmonary complications such as exanthem, hemolysis, arthritis, hepatic dysfuction, cardiac disease, and central nervous system disease. The pathogenesis of extrapulmonary involvements may be an autoimmune phenomena. Recent studies suggest that bronchial asthma can be initiated...
A Case of Catel Manzke Syndrome
Sang Hyun Oh, Eun Young Kim, Young Bong Park, Sang Kee Park, Jeong Ryoul Yang
Clin Exp Pediatr. 1999;42(8):1154-1158.   Published online August 15, 1999
Catel Manzke syndrome is characterized by hyperphalangy of the index fingers associated with Robin malformation sequence. The etiology of Catel Manzke syndrome is still uncertain, with the majority of cases being sporadic. Careful observation to recognize upper airway obstruction secondary to the Robin sequence should be made a part of routine care for newborns with this disorder. Failure to thrive...
A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
So Yeon Yoon, Jae Kyun Hur, Dae Chul Jeong, Won Bae Lee, Chang Kyu Oh
Clin Exp Pediatr. 1999;42(8):1149-1153.   Published online August 15, 1999
Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital abnormalities, microcephaly, hypertelorism, prominent glabella, cleft lip and palate and micrognathia. In 87% of cases, chromosome 4 deletion arises as a de novo event, whereas in the remaining cases it...
A Childhood Case of Nephrotic Syndrome Complicated with Cerebral Venous Sinus Thrombosis Followed by Left Popliteal Artery Thrombosis
Si-Eun Lee, Sue-Jin Lee, Yang-Suk Jung, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Jin-Jong Yoo, Hee-Shang Youn
Clin Exp Pediatr. 1999;42(7):1019-1025.   Published online July 15, 1999
We report a 10-year-old male with steroid-responsive nephrotic syndrome which was complicated by cerebral venous sinus thrombosis including superior sagittal sinus and left popliteal artery thrombosis following 5 months later. At each thrombotic episode, he suffered from relapse of massive proteinuria with hypovolemic crisis, and from hemoconcentration with dehydration due to vomiting or diarrhea. Brain MR angiography confirmed thromboses of...
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