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Original Article
A case of Kleeblattschadel Syndrome; cloverleaf Skull.
J S kim, C H Koo, M S Eom, J S Park, H G Jung, Y S Kim, H G Lee, C Lee
Clin Exp Pediatr. 1990;33(4):559-563.   Published online April 30, 1990
We have recently experienced a case of Kleeblattschadel Syndrome in a 5 month old boy. The diagnosis was made by characteristic morphologic clinical features and radiologic findings. We report this case with brief review of some related literatures.
Two cases of Klippel-Treaunay-Weber Syndrome.
Chang Suk Seo, Jae In Rho, Young Su Kwon, Man Chul Ha, Jin Young Jung
Clin Exp Pediatr. 1990;33(4):553-558.   Published online April 30, 1990
We experienced two cases of Klippel-Trenaunay-Weber Syndrome in 8-year old girl and 7-month old girl. In two cases, plain X-ray revealed osteohypertrophy of femur and tibia without any periosteal reaction and unilateral soft tissue hypertrophy was also seen on left lower extremity. In case I, femoral and popliteal venography showed no varix. The review of literatures on this syndrome was presented and discussions were attempted...
Two cases of Goldenhar's Syndrome.
Ah Young Yun, Nam Sun Baik, Young Ah Lee, Hyung Ro Moon
Clin Exp Pediatr. 1990;33(3):380-385.   Published online March 31, 1990
Goldenhar’s syndrome is a syndrome consisting of (1) epibulbar dermoids and/or lipodermoids (2) preauricular skin tags and blind-ended fistulas and (3) vertebral anomalies. Two cases of Goldenhar’s syndrome which showed asymmetric facies, epibubar dermoids, preaur- icular skin tags blind-ended fistulas in 7 month-old girl and 2 month-old boy were reported. In one of our cases cleft of vertebrae, hypoplasia of left lung and cyanotic...
A case of Beckwith-Wiedemann Syndrome.
Nam Joo Hwang, Soo Mi Back, Yang Suk Choi, Son Sang Soe, Hye Kyoung Yoon
Clin Exp Pediatr. 1990;33(3):373-379.   Published online March 31, 1990
We experienced on case of Backwith-Wiedemann syndrome. This female neonate manifested omphalocele, gigantism, facial nevus flammeus, Macroglossia, and ear lobe grooves. A brief review of related literature was done.
A Case of Cryptophthalmos Syndrome.
Ho Seek Ahn, Gyu Ha Lee, Eui Bon Koo, Sung Won Kim, Kil Hyen Kim
Clin Exp Pediatr. 1990;33(2):274-277.   Published online February 28, 1990
Cryptophthalmos Syndrome is a rare congenital disease charaterized by unilateral or bilateral absence of the palphbral fissure, other dyscephaly, partial cutaneous syndactyly and malformation of the genitalia. It is presumably a nonuniform syndrome and its etiology is not certain. But, a type transmitted by autosomal recessive inheritance may be considered certain. We experienced a characteristic case of cryptophthalmos syndrome in newborn female infant who died...
A Case of Transient Myeloproliferative Disorder in Down's Syndrome.
Ji Hye Kang, Young Mi Hong, Kyung Hee Kim, Seung Joo Lee, Ki Sook Hong, Ok Kyung Kim, Je Geun Chi
Clin Exp Pediatr. 1990;33(2):252-258.   Published online February 28, 1990
Transient myeloproliferative disorder has been reported in infant with Down's syndrome during neonatal period. This is clinically and hematologically indistinguishable from congenital acute leukemia. In contrast to congenital leukemia, complete clinical and hematological recovery occurs within weeks to months of diagnosis without antileukemic treatment. A neonate presented with jaundice, hepatosplenomegaly and mongoloid face was diagnosed as Transient myeloproliferative disorder. We report this case with a review of...
A Case of Cornelia de Lange syndrome.
Byoung Hong Ahn, Song Nyeon Choi, Young Wook Kim, Ki Bok Kim
Clin Exp Pediatr. 1990;33(2):234-240.   Published online February 28, 1990
We have experienced a case of Cornelia de Lange syndrome in a 3-year-old boy. The patient showed most of the typical clinical features of the syndrome: microcephaly, bushy eyebrows and synophys, antimongolian slant, small nose and anteverted nostrils, thin protruding lips with downturning of the comer, micrognathia, low set ears, generalized hirsuitism, and growth redardation. The patient also had skeletal abnormalities of hands. Chromosomal...
2 Case of Scimitar syndrome.
Jae Kon Ko, Nam Su Kim, Woong Heum Kim, Heung Jae Lee, Shi Joon Yoo
Clin Exp Pediatr. 1990;33(2):229-233.   Published online February 28, 1990
The scimitar syndrome, a rare complex anomaly, consists essentially of an anomalous pulmonary vein draining whole or part of right lung into inferior vena cava and its curved Turkish sword (scimitar) like appearance has provided the name of this syndrome. Associated anomalies are frequent, such as hypoplasia of the right lung and right pulmonary artery, abnormalities of bronchial architecture and lobation, rightward displacement of...
A Case of Nonimmunologic Hydrops Fetalis Associated with Down Syndrome.
Sang Eun Lee, Meen Jai Lee, Dong Hwan Lee, Sang Jhoo Lee
Clin Exp Pediatr. 1990;33(2):205-211.   Published online February 28, 1990
We experienced a case of nonimmunologic hydrops fetalis associated with Down syndrome. The patient had generalized edema with severe scrotal swelling and abdominal distension. A roentgenogram showed bilateral pleural effusion and ascites. The chromosomal study revealed 21 trisomy. On autopsy, there were pleural fluid and ascites as well as pericardial fluid. Small ASD and incomplete lobation of the right lung were detected. Chromosomal abnormalities should always...
The Clinical Observation on Mucocutaneous Lymph Node Syndrome.
Sang Yun Ahn, Ja Wook Koo, Ha Baik Lee, Soo Jee Moon, Hahng Lee
Clin Exp Pediatr. 1990;33(2):196-204.   Published online February 28, 1990
The one-hundred-forty nine children with mucocutaneous lymph node syndrome who were diagnosed and treated through admission at the Department of Pediatrics, Hanyang University Hospital from July 1977 to January 1989, were investigated for clinical patterns and laboratory , correlations. The results are as follows: 1) Most patients (84.5%) were under 4 years of the age. 2) Boys were more prevalent than girls, as a ratio of 1.9:1. 3) Seasonal incidence...
A Case of Cornelia de Lange Syndrome.
Hwa Kyoung Oh, Soo Jung Yoo, Myung Jin Kim, Mi Na Lee
Clin Exp Pediatr. 1990;33(1):94-99.   Published online January 31, 1990
We have experienced a case of Cornelia de Lange syndrome in a girl of 4.5/12 years old. She showed typical features of a microbrachycephaly, hirsuitism and characteristic face with bushy eyebrows, antimongolian slant depressed nasal bridge, thin protruding lips with downtuming of the comers and the microtia. She also had severe retardation in growth and mental development. The diagnosis was established by typical clinical...
A case of Guillain-Barré syndrome in a child treated with plasmapheresis.
Hae Won Lee, Hoo Jae Han, Seung Joo Lee, Keun Lee
Clin Exp Pediatr. 1989;32(11):1592-1597.   Published online November 30, 1989
We experienced a case of Guillain -Barré syndrome in a 12-year-old female patient who had progressive motor weakness and showed rapid recovery with plasmapheresis and supportive therapy in acute stage. A brief review of the related literature was added.
A case of Dandy-Walker syndrome.
Kyung Hee Kim, Jong Leam Choi, Hyo Sook Hong, Wan Seop Kim
Clin Exp Pediatr. 1989;32(11):1586-1591.   Published online November 30, 1989
Dandy-Walker syndrome is a developmental disorder of the brain associated with hydrocephalus, possterior fossa cyst and maldevelopment of the cerebellar vermis and is a result of outlet obstruction of the fourth ventricle. We experienced a case of a 6 day old male neonate who presented macrocephaly which revealed marked dilated fourth & lateral ventricle, large posterior fossa cyst and hypoplastic cerebellum, no vermis on Brain...
A case of Kostmann syndrome.
Won Sup Shin, Sang Woo Kim, In Kee Paik
Clin Exp Pediatr. 1989;32(11):1568-1573.   Published online November 30, 1989
Kostmann Syndrome is an uncommon disorder, which is characterized by recurring infections, begining soon after birth, arid by abscence of granulocyte in the peripheral blood. The authors experienced a case of Kostmann Syndrome in a 5 months old boy who had suffered from recurrent infection since 7 days of age. We diagnosed this case by history, physical examina- tions, culture of bone marrow stem...
Role of aldosterone on the minimal change nephrotic syndrome in children.
Soon Wha Kim, Myung Ik Lee, Don Hee Ahn
Clin Exp Pediatr. 1989;32(11):1526-1532.   Published online November 30, 1989
We studied 11 cases of minimal change nephrotic syndrome randomly selected among 16 cases of minimal change nephrotic syndrome who were proved by kidney biopsy at department of pediatrics, National Medical Center during the period of January 1985 through December 1987. These patients were studied serially at 3 different stages in their clinical course. These were stages of edema formation, diuresis and remission, respectively. The...
Caudal Regression Syndrome Associated with Potter Syndrome.
Hyun Joo Jeong, Sung Sook Bang, Hae Ran Lee, Choon Myung Ro, Yeon Lim Suh
Clin Exp Pediatr. 1989;32(10):1448-1454.   Published online October 31, 1989
Caudal egression syndrome is a term applied to a syndrome comprising complete or partial agenesis of sacrum and coccyx, often associated with malformation of the lower extremities, congenital heart disease, urologic abnormalities and malformation of the upper extremities. The primary defect may occur in the mid-posterior axis mesoderm of the embryo prior to the 4th week of development, resulting in other defects of the...
A Case of Anomalous Origin of the Left Coronary Artery from The Pulmonary Artery(Bland-White-Garland Syndrome).
Jae Sook Ma, Kwang Ok Lee, Tae Ju Hwang
Clin Exp Pediatr. 1989;32(10):1428-1434.   Published online October 31, 1989
The anomalous origin of the left coronary artery from the pulmonary artery (Bland-White -Garland Syndrome) is a relatively rare congenital heart disease, in which the right coronary artery arises normally while the left comoary artery arises from the pulmonary artery. We experienced a case of this anomaly without any other cardiac defect in a 4 month-old female infant. The diagnosis was suspected on the...
A Case of Cockayne Syndrome.
Jong Leam Choi, Kyung Hee Kim, Hyo Sook Hong, Wan Soeb Kim
Clin Exp Pediatr. 1989;32(10):1422-1427.   Published online October 31, 1989
We experienced a case of Cockayne syndrome in a 12 10/12 year-old male who had characteristic manifestations with cachectic dwarfism, severe mental retardation, intracranial calcifications, an unusal face, photo-sensitive dermatitis and joint flexion contractures. Laboratory investigations have not revealed any consistent abnormality. We report this case with brief review of some related literatures.
A Comparative Study of Therapeutic Effect of Intravenous Gammaglobulin plus Aspirin Versus Aspirin Alone in Kawasaki Syndrome.
Boung Yul Leem, Chong Sung Chung, Sung Ho Cha, Yong Mook Choi, Chang Il Ahn
Clin Exp Pediatr. 1989;32(10):1408-1415.   Published online October 31, 1989
We compared the efficacy of intravenous gamma globulin plus aspirin with that of aspirin alone in reducing the frequency of coronary artery abnormahties and changes of clinical coures in children with acute kawasaki syndrome in the children of 44 cases who were admitted in K.H.U.H from Mar. 1986 to Fab. 1988. Group A: High dose aspirin (60〜90 mg/kg/D) during febrile stage and then switched...
Cord Blood Insulin Concentration in Premature Neonates with Respiratory Distress Syndrome.
Soo Jung Keum, Rak Won Choi, Mi Youn Chung, Dong Hyuck Kum
Clin Exp Pediatr. 1989;32(10):1402-1407.   Published online October 31, 1989
Insulin seems to exert an inhibitory effect on lung maturation. The incidence of respiratory distress syndrome in neonates of diabetic mothers is significantly greater than that observed in age-and weight-matched controls. Thus hyperinsulinemia may be an important factor in the developemnt of RDS. We investigated the relationship between cord blood insulin concentration and subsequent develop- ment of RDS in 32 premature neonates born at Koryo...
Study on Antithyroid Antibody and Thyroid Functional Status in Patients with Turner Syndrome.
Bo Young Lee, Duk Hi Kim, Kir Young Kim
Clin Exp Pediatr. 1989;32(10):1397-1401.   Published online October 31, 1989
This study is a systematic cytogenetic and clinico-hormonal analysis of 26 cases who were diagnosed as Turner syndrome at the Yonsei Medical Center from Jan. 1978 to Jan. 1988. Antithyroid antibody and thyroid function tests were performed in Turner syndrome(3 groups according to karyotypes) and control group. The results were as follows: 1) The incidence of positive antithyroid antibody in the 26 cases was 42.3% and...
Selectivity Index of Proteinuria in Childhood Minimal Change Nephrotic Syndrome.
Cheol Ho Lee, Young Seo Park, Kwang Wook Ko
Clin Exp Pediatr. 1989;32(10):1384-1390.   Published online October 31, 1989
The selectivity indices (S.I.) of proteinuria in 120 biopsy proven minimal change nephrotic syn- drome (MCNS) children who were admitted to Seoul National University Childern’s Hospital from January 1976 to June 1988 and followed up for more than 1 year from onset of disease, were analyzed in relation to clinical findings, histopathologic features and steroid responsiveness. The results were as follows: 1) The mean age at...
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 Case of Myelodysplatic Syndrome.
Sun Bok Suh, Chang Ok Soh, Sang Hoon Lee, Chul Ho Kim, Soon Yong Lee
Clin Exp Pediatr. 1989;32(9):1314-1319.   Published online September 30, 1989
We have experienced a case of myelodysplastic syndrome (RAEB) in an 11-year-old boy with the complaints of pallor and petechiae for 1 month. After diagnosis, improvement was remarkable with chemotherapy of low dose cytosine arabinoside but the RAEB was transformed to acute myeloblastic leukemia 4 months after treatmemt. Anti-leukemic therapy was tried but induction of remission was failed and he was died of sepsis...
A Case of Potter Syndrome Type Ⅰ.
Jin Hong Park, Mi Jeong Koh, Yeon Kyun Oh, Chan Choi
Clin Exp Pediatr. 1989;32(8):1150-1154.   Published online August 31, 1989
We experienced a case of Potter syndrome type I characterized by polycystic kidney, pulmomnary hypoplasia and abnormal face in a 1 day-old male neonate with respiratory distress. Diagnosis was made with autopsy findings. A brief review of literature was made.
A Case of Peutz-Jeghers Syndrome.
Ick berm Park, Sung guen Oh, Jung suk Ko, Sang hyun Byun, Kyu chul Choeh
Clin Exp Pediatr. 1989;32(7):990-994.   Published online July 31, 1989
This is a report of our experience of Peutz-Jeghers syndrome in a 14 year old girl having family history. She was admitted with complaints of crampy abdominal pain and vomiting, and showed melanotic pigmentation on the lips, face around nose, oral mucosa around molar areas, fingers and toes. Colon study revealed multiple polyposis in colon and small bowel. In family, her father has melanotic...
A Case of Laurence-Moon-Biedl Syndrome Including Diabetic Mellitus.
Byoung Hoon Lee, Byung Rai Cho, Myoung Ik Lee, Keun Chan Sohn, Hyung Joon Yoo
Clin Exp Pediatr. 1989;32(6):857-861.   Published online June 30, 1989
Laurence-Moon-Biedl syndrome has a varialbe phenotype and includes obesity, mental deficiency, retinitis pigmentosa, polydactyly and hypogonadotrophic hypogonadism. This report concerns a rare case of a 13-year-old girl having diabetic mellitus with Laurence-Moon-Biedl syndrome. The relevant literature was reviewed.
A Case of Prune Belly Syndrome.
Myoung Suk Nam, Soon Soen Lim, Young Ha Kim, Moon Ki Joe
Clin Exp Pediatr. 1989;32(6):852-856.   Published online June 30, 1989
We have recently experienced a case of prune.belly syndrome in 1.day.old male with congenital defect of abdominal muscles, both cryptorchidism, ureter and bladder dilatation, left renal cyst. Imperforate anus and left club foot were associated. The diagnosis was confirmed by autopsy. A brief review of Iiterature was made.
3 Cases of Prune Belly syndrome.
Chong Sung Chung, Chong Woo Bae, Byung Soo Cho, Chang Il Ahn, Ju Hie Lee, Moon Ho Yang
Clin Exp Pediatr. 1989;32(6):845-851.   Published online June 30, 1989
The prune belly syndrome is a rare congenital anomaly characterized by laxed, wrinkled abdominal wall, cryptorchidism and urinary tract anomalies. But it has wide spectrum of clinical severity, clinical presentation and other anomalies such as pulmonary and skeletal anomalies. We suggested that we should examine the abdominal wall carefully in order to detect mild form (class III) of prune belly syndrome when we...
A case of Evans Syndrome Associated with A-V Malformation.
Keun Haeng Cho, Min Young Lee, Kwang Chul Lee, Young Sook Hong, Soon Kyum Kim
Clin Exp Pediatr. 1989;32(6):839-844.   Published online June 30, 1989
In 1951, Evans and associates first described a group of patients with primary thrombocytopenic purpura for a diagnosis of Evans syndrome, The criteria for a diagnosis of Evans syndrome were(l) hemolytic anemia with a positive direct coombs’ test and thrombocytopenia occuring either simultaneously or in succession and(2) the absence of any known underlying etiology. We experienced a case of Evans syndrome associated with...
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