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Original Article
A case of 13-ring chromosome syndrome.
Jong Soo Lee, Yong Tae Jung, Byung Hak Lim, Im Ju Kang
Clin Exp Pediatr. 1991;34(12):1736-1739.   Published online December 31, 1991
We have experienced a case of 13-ring chromosome syndrome in 9 month old girl who had microcephaly, trigonocephaly, hypertelorism, microophthalmia, broad prominent nasal bridge, high arched palate & speech defect. On X-ray study, brain computerized tomograpy showed Dandy-Walker variant. Chromosome study revealed 13-ring chromosome. Her mother had mild mental retardation, short stature, microcephaly, trigonocephaly, hypertelorism and micrognathia. A brief review of the literatures was also...
A case of acute megakaryoblastic leukemia with Down syndrome.
Sung Jin Chang, Sung Min Sohn, Heung Sik Kim, Chin Moo Kang, Dong Seok Jeon
Clin Exp Pediatr. 1991;34(12):1730-1735.   Published online December 31, 1991
We experienced a case of acute megakaryoblastic leukemia (M7) with Down syndrome. The patient was admitted due to premature SGA, which revealed characteristic facial figure of Down syndrome. M7 was diagnosed with PB smear which showed abundant megakaryoblast and confirmed by using the monoclonal antiplatelet glycoprotein IIb/IIIa antibody (J 15). On 25th hospital day, the patient gained weight but discharged without further treatment of M7. Authors...
Three cases of Watson-Alagille syndrome.
Eun Kyeong Bom, Dae Hyun Kim, Dong Hoon Koh, Young Youn Choi, Jae Sook Ma, Tae Ju Hwang
Clin Exp Pediatr. 1991;34(12):1699-1706.   Published online December 31, 1991
Watson-Alagille syndrome is a kind of familial intrahepatic biliary atresia associated with charac- teristic face and cardiovascular anomaly. Growth and developmental delay, anomalies of the eyes such as posterior embryotoxon, deformities of the skeletal system are often the manifestations of this syndrome. We experienced three cases of Watson-Alagille syndrome recently. These patients showed charac- teristic faces and had peripheral pulmonary artery stenosis diagnosed by pulmonary...
a case of type II lissencephaly; Walker-Earburg syndrome.
Ae Yong Kim, Jung Ho Lee, Yong Sub Kim, Kyeng Sook Cho, Jong Dai Jo
Clin Exp Pediatr. 1991;34(11):1598-1604.   Published online November 30, 1991
Lissencephaly is a rare abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. Three types of lissencephaly are recognized. Type I is characterized by microcephaly and dysmorphic facies. Type II usually lacks characteristic facies but exhibits macrocephaly from hydrocephalus, eye anomaly, and/or congenital muscular dystrophies. Type III is characterized by microcephaly without any characteristic dysmorphic facial features. We have experienced...
A case of cerebro-oculo-facio-skeletal syndrome.
Sung Shin Park, Ju Seok Maeng, Jae Ok Park, D. H Lee, S. J Lee
Clin Exp Pediatr. 1991;34(11):1593-1597.   Published online November 30, 1991
COFS syndrome has been recognized as an autosomal recessive, apparently degenerative problem of the brian and spinal cord that usually manifest before birth. We experienced a female neonate of COFS syndrome, with multiple malformation wiich were, charaterized by low birth weight, microcephaly, microphthalmia, blepharophimosis, nystagmus, deep-set eyes, optic nerve hypoplsia, prominent nasal brideg, upper lip overlapping lower lip, micrognathia, retrognathia, widely set nipple, contracture of...
A case of 11q deletion syndrome.
Hye Kyeong Nam, Rhee Choi, Chang Hwi Kim, Sang Jhoo Lee
Clin Exp Pediatr. 1991;34(11):1587-1592.   Published online November 30, 1991
11q-syndrome is a rare chromosomal anomaly. We experienced a case of llq deletion syndrome in a female infant. It was diagnosed by clinical features and chromosomal study. She had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, anteverted nostril, small carp-shaped mouth, micrognathia, hypertrophic pyloric stenosis and ventricular septal defect. Chromosomal study showed partial terminal deletion of the long arm of chromosome...
A case of de Novo trisomy 12p syndrome.
Young Huuk Lee, Kir Young Kim
Clin Exp Pediatr. 1991;34(11):1581-1586.   Published online November 30, 1991
A case of de novo trisomy 12p syndrome has deen experienced in newborn male child recently. This male child manifested normal birth weight, weak crying, poor sucking, generalized hypotonia, multiple congenital anomalies on face and digits, and progressive psychomotor retardation. The diagnosis was made on the basis of typical morphologic features and chromosomal study. As this is the first case in Korea, it is...
Surfactant replacement therapy in neonatal respiratory distress syndrome.
Chan Ok Park, Boung Yul Lim, Byeong Gie Yeo, Ji Ho Song, Eun Kyung Sohn, Chong Woo Bae, Sa Jun Chung, Chang Il Ahn
Clin Exp Pediatr. 1991;34(9):1211-1222.   Published online September 30, 1991
Respiratory distress syndrome (RDS) in tiny infants remains a major medical challenge as they are less tolerant of supportive care. In 1959, after identification of the pulmonary surfactant (S), S replacement therapy were used to treat RDS. This idea was first successfully tested on RDS infants by Fujiwara, et. al” in 1980. Now the trial and use of S for the treatment in RDS...
A case of Rubinstein-Taybi syndrome.
Cheol Hee Hwang, Dong Gue Lee, Myung Sug Nam, Moon Kee Cho
Clin Exp Pediatr. 1991;34(8):1146-1150.   Published online August 31, 1991
Rubinstein-taybi syndrome is characterized by typical skeletal abnormalities such as broad thumb and large first toe, mental and motor retardation, and facial abnormalities. In addition, defects of the cardiovascular system and the urinary tract may be present. We have experienced a case of Rubinstein-Taybi syndrome which a five-year-old boy had broad thumb and large first toe, mental and motor retardation, and facial abnormaiities (palpebral...
The relationship between diuresis and pulmonary function in respira- tory distress syndrome of the newborn.
Eun Ae Park, Yung Sook Ko, Gyoung Hee Kim
Clin Exp Pediatr. 1991;34(8):1086-1092.   Published online August 31, 1991
The purpose of this study was to determine the relationship between improvement of pulmonary, function and diuresis in respiratory distress syndrome. This study was based on 24 cases of RDS infants admitted in NICU of Ewha Womans University from January 1988 to December 1990. The results were as follows. 1) Mean birth weight of study cases was 2.11 kg with gestational age between 29〜39 weeks. 2) Maximum...
A case of a variant of Pierre Robin syndrome -cerebrocostomandibular syndrome-.
Hye Jin Lee, Eun Jin Mun, Ock Seung Jeong, Son Sang Seo, Jeong Ja Kang
Clin Exp Pediatr. 1991;34(7):1022-1028.   Published online July 31, 1991
We experienced a case of cerebrocostomandibular syndrome in newborn consisted of costal deficiency, and micrognathia. It is a variant of Pierre Robin syndrome, and cleft palate and glossoptosis are frequently present. Respiratory difficulty due to rib dysplasia result in poor prognosis for survival. Brief review of literature was made.
A case of Prune Belly syndrome associated with holoprosencephaly.
Myung Hee Youn, Mi Sung Jeong, Hyung Ja Park, Shinna Kim, Keum Min Park, Song Ja Chin
Clin Exp Pediatr. 1991;34(7):1015-1021.   Published online July 31, 1991
This is brief report of a case of prune belly syndrome associated with holoprosencephaly in one-day old neonate. At birth, physical examination revealed skull bone defect, anophthalmia, severe hypotelorism, arhinia with proboscis, micrognathia, webbed neck, severely dilated abdomen with thin wall, agenesis of external urogenital organs and anus, equinovalgus and genu valgus. Autopsy findings were alobar holoprosencephaly with hydrocephalus, hypoplasia of lung and ribs, markedly dilated...
A case of Bartter's syndrome.
Kyu Young Lee, Byoung Soo Cho, Hah Young Lee, Jay Bernstein
Clin Exp Pediatr. 1991;34(6):849-856.   Published online June 30, 1991
Bartter’s syndrome in characterized by renal potassium wasting, hypokalemic alkalosis, hyper- reninemia, normal blood pressure and resistance to the blood pressure augmenting effect of angioten- sin, accompanied by often hypomagnesemia and increased production of certain renal prostaglandins. The primary defect in this rare disorder is considered to be a renal tubular dysfunction. We had experienced a case of Bartter’s syndrome in 9 months old...
A case of pneumoperitoneum secondary to pulmonary airleak and a similar case of abdominal subcutaneous emphysema.
Sei Joong Ko, Moon Chul Kim, Jai Eok Kim
Clin Exp Pediatr. 1991;34(6):837-842.   Published online June 30, 1991
Pneumoperitoneum in association with pulmonry airleak syndrome is rarely encountered in spite of the rather frequent occurence of the pulmonary airleak syndrome in the neonates and the premature babies under ventilator therapy. In most cases of pneiimoperitoneum, the major cause is gastrointes- tinal perforation which evidently requires emergency surgery. Nevertheless, no such aggressive procedure as explolaparotomy is needed in case of pneumoperitoneum secondary to...
Re-evaluation of the indication for renal biopsy in childhood nephrotic syndrome.
Eun Kyoung Sohn, Byung Soo Cho, Chang Il Ahn
Clin Exp Pediatr. 1991;34(6):805-811.   Published online June 30, 1991
Renal biopsy is indicated in nephrotic syndrome when histopathologic types other than minimal change pattern or the secondary nephrotic syndrome are suspected. But renal biopsy in children has some limitation because of the technical problem. In order to assess the clinicopathologic correlation and to re-evaluate the biopsy indication, the clinical manifestations and histopathologic types were analyzed statisically on the 86 cases of childhood nephrotic syndrome...
A case of the lupus syndrome induced by hydralazine.
Beom Soo Park, Joong Gon Kim, Yong Soo Yun
Clin Exp Pediatr. 1991;34(5):736-739.   Published online May 31, 1991
A reversible syndrome resembling systemic lupus erythematosus is induced by hydralazine which has been used in treatment of hypertension or congestive heart failure. The incidence of the lupus syndrome induced by hydralazine was estimated at 6.8% in adults (Cameron, 1984) but there was few reports in children. A 9 year old girl had arthralgia, fever, splenomegaly, pleurisy and oral ulcer after 62 months of hydralazine...
Two cases of Goldenhar syndrome.
Moo Young Song, Min Sik Kim, Nam Soo Park, Un Jun Hyoung, Jin Oh Lee, Eun Ryoung Kim
Clin Exp Pediatr. 1991;34(5):730-735.   Published online May 31, 1991
Goldenhar syndrome is a pattern of malformation with wide variability of expression characterized by epibulbar dermoids, preauricular appendages and pretragal blind-ended fistulas, and vertebral anomalies. We have experienced two cases of Goldenhar syndrome. In one case multiple hemivertebrae, anomalous ribs, hydrocephalus with abscence of the septum pellucidum and mild widening of the subarachnoid space were noted. Diagnosis was made by physical examination and radiological findings. A brief...
A case of 4p- syndrome with oligomeganephronia.
Ri Sa Lee, Bong Sik Kong, Beyong Il Kim, Sang Kyu Park, Ho Jin Park, Soong Deok Lee, Je Geun Chi
Clin Exp Pediatr. 1991;34(4):558-565.   Published online April 30, 1991
The 4p_ syndrome results from structural deficiency of chromosome 4. We experienced a patient of 4p~ syndrome who all features of already described Wolf syndrome, i.e., prominent glabella, hypertelorism, broad beak nose, cleft lip and palate, kyphoscoliosis, hypospadia, etc.. Postmortem examination revealed multiple visceral anomalies, including large atrial septal defect, diaphragmatic eventration, intestinal malrotation, ankyloglossia, and hemivertebrae. The kidneys showed a marked simple hypoplasia weighing...
A case of Hunter syndrome.
Suk Hyun Ha, Young Sun Ko, Mi Soo Ahn, Ji Sub Oh
Clin Exp Pediatr. 1991;34(3):398-403.   Published online March 31, 1991
Authors experienced a case of Hunter syndrome in 4 old male patient, whose diagnosis was established by typical findings in physical examination, family history, screening test using methylene blue for mucopolysaccaharides, and radiologic studies. We report this case with a brief review of literatures.
Clinical study of Kasabach-Merritt syndrome.
Eun Jung Bae, Young Ah Lee, Hee Young Shin, Hyo Seop Ahn
Clin Exp Pediatr. 1991;34(3):371-379.   Published online March 31, 1991
A retrospective analysis of clinical findings in 20 patients with Kasabach-Merritt syndrome who visited Department of Pediatrics, Seoul National University Hospital from January, 1979 to June, 1990 was performed. The average age of occurrence was 6.4 month and male to female ratio was 1: 1.2. The mean size of hemangioma was 11.0x8.5 cm and the locations were cutanous in 18 (extrem- ities 5, trunk...
A case of hyperimmunoglobulin E syndrome.
Myeong Cheol Shinn, Sung Dong Choi, Byung Gyu Suh, Jin Han Kang, Joon Sung Lee
Clin Exp Pediatr. 1991;34(2):292-298.   Published online February 28, 1991
The hyperimmunoglobulin E syndrome is a primary immunodeficiency disorder characterized by serious recurrent bacterial infections of the skin and respiratory system in early life, and markedly elevated serum IgE level. These recurrent infections are generally subcutaneous abscesses caused by Staphylococcus aureus. Also, additional characteristrics of this syndrome include coarse facial appearance, chronic pruritic dermatitis and eosinophilia. The baisic immunologic defect mechanism in hyperimmunoglobulin E syndrome is...
Two cases of Edward syndrome.
Jin Bok Hwang, Woo Hyun Kwon, Soon Young Song, Chang Ho Han, Hye Li Chung, Young Dae Kwon
Clin Exp Pediatr. 1991;34(2):250-255.   Published online February 28, 1991
We presented two cases of Edward syndrome in this report. Both cases were bom with multiple congenital malformation which were characterized by low set malformed ears, micrognathia, webbed neck, rocker bottom feet, small pelvic and abducted, index and third fingers flexed upon with simian crease and small sized great toes with mild dorsifiexion. A large VSD was found on autopsy in one case who...
The clinical study on MCLS.
Young Sun Ko, Ji Sun Cho, Hong Bae Kim, Ji Sub Oh
Clin Exp Pediatr. 1991;34(2):240-249.   Published online February 28, 1991
Forty six children with mucocutaneous lymph node syndrome were diagnosed and treated through admission at the Department of Pediatrics, Wallace Memorial Baptist Hospital from January 1987 to January 1990. Ther were investigated for clinical pattern and laboratory correlations. The results were as follows: 1) Most patients (95.7%) were under four years of the age. 2) The ratio of male to female was 1.6:1. 3) Seasonal incidence was high in...
Adrenocortical carcinoma in a twelve month old male infant.
Woo Ryoung Lee, Kyoung Whan Oh, Chang Hwi Kim, Sang Jhoo Lee
Clin Exp Pediatr. 1991;34(1):137-143.   Published online January 31, 1991
Adrenocortical carcinoma is a rare disease in childhood. Most of these carcinomas are functional, produc- ing endocrine abnormalities such as Cushing syndrome, virilization, precocious puberty, hyperaldosteronism or feminization. We experienced a case of adrenocortical carcinoma in a 12 month old male infant who exhibited features of Cushing syndrome, Virilization, precocious puberty and hyperaldosteronism, which were due to functional adrenocortical carcinoma. Microscopic examination revealed cellular pleomorphism...
A Case of Beckwith-Wiedemann Syndrome.
E.W. Park, D.U. Kim, W.H. Choi, K.W. Kim
Clin Exp Pediatr. 1991;34(1):126-129.   Published online January 31, 1991
We experienced a case of Beck with-Wiedemann Syndrome. This 1-day-old female neonate manifested gigantism, macroglossia, anomaly of the umbilical cord, hemihypertrophy, mild he- patomegaly, congenital heart disease and severe hypoglycemia. A brief review of related literature was made.
A case of report fiber syndrome.
So Young Lee, Sun Yang Hong, Jae Hoon Shin, In Joon Seol
Clin Exp Pediatr. 1991;34(1):115-119.   Published online January 31, 1991
This is a report of 10 years old boy whose complete total ophthalmoplegia, ataxia and areflexia (Fisher syndrome) were the outstanding clinical features.
Clinical considerations of acute leukemia or transient myeloprolifo- rative disorder in Down syndrome.
Eun Sil Dong, Sung Hee Jang, Hong Hoe Koo, Hye Lim Jung, Hee Young Shin, Hyo Seop Ahn
Clin Exp Pediatr. 1991;34(1):74-82.   Published online January 31, 1991
Children with Down syndrome have an increased incidence of acute leukemia. Infants with Down syndrome are also at risk of developing a transient myeloproliferative disorder indistinguishable from acute nonlymphocytic leukemia (ANLL) except by its eventual clinical recovery. We observed 11 patients with acute leukemia or transient myeloproliferative disorder in Down syndrome who had admitted to the Departmetn of Pediatrics, Seoul National University Children’s Hospital,...
Therapeutic effects of plasmapheresis in Guillian-Barre syndrome.
Sung Jin Chang, Sun Hee Jung, Eun Sook Suh, Chin Moo Kang
Clin Exp Pediatr. 1991;34(1):66-73.   Published online January 31, 1991
Although the exact mechanism of the immunologic injury is unknown, the pathogenesis of the Guillain-Barr受 syndrome is explained as an autoimmune attack directed against to peripheral nervous myelin. So plasmapheresis is tried for treatment of Guillain-Barr즌 syndrome. Authors analysed 12 cases af Guillain-Barr受 syndrome who were treated with plasmapheresis and compared the results with that of the 13 cases, treated with conventional therapy. Duration between...
A clinical study on meconium-stained babies.
Cheol Ki Min, Sung Suk Bang, Chong Young Park, Hae Ran Lee, Choon Myung Ro
Clin Exp Pediatr. 1991;34(1):24-30.   Published online January 31, 1991
Among a total of 667 newborns delivered at Han Gang Sacred Heart Hospital from January 1988 to July 1989, a clinical study was done regarding meconium-stained babies. The results were summarized as follows: 1) The incidence of meconium staining was 25.9% (173 babies) and there was no difference of frequency in sex. 2) The higher the birth weigt and the gestational age, the higher the incidence of...
A clinical study on the idiopathic respiratory distress syndrome of the newborn: comparison of radiographic and clinical findings.
Byoung Yul Lim, Chong Woo Bae, Yong Mook Choi, Chang Il Ahn, Sun Wha Lee
Clin Exp Pediatr. 1991;34(1):16-23.   Published online January 31, 1991
Idiopathic respiratory distress syndrome (IRDS) of the newborn remains an important and signifi- cant cause of morbidity and mortality despite of improvement in neonatal care. The clinical and radiologic features observed are the results of surfactant deficiency combined with a highly compliant chest wall. We have been applied the clinical and radiologic features in the diagnosis of IRDS. In 1974, Bomsel et al reported the...
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