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Original Article
A Case of MELAS Syndrome.
Ki Joong Kim, Yong Seung Hwang, Young In Choi, Sung Hye Park, Je Geun Chi
Clin Exp Pediatr. 1990;33(11):1586-1592.   Published online November 30, 1990
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) syndrome is a rare but clinicopathologically distinctive mitochondrial disorder. We experienced a case of MELAS syndrnmp in A 11 year-old girl who showed repeated attacks of stroke-like episodes, vomitng, cortical blindness, hearing deficit and alternating hemiplegia. Serum lactic acid level was elevated (6.4 mmol/Z). The diagnosis was confirmed by muscle biopsy which revealed dispersed ragged-red fibers.
A Case of Acute Megakaryoblastic Leukemia in infantwith down Syndrome.
Jang Sik Moon, Hae Young Hwang, Sejung Sohn, Hak Soo Lee, Heum Rye Park
Clin Exp Pediatr. 1990;33(10):1441-1446.   Published online October 31, 1990
Acute megakaryoblastic leukemia is an uncommonly recognized disorder that is characterized by rapidly progressive proliferation of atypical megakaryocytes and their precursor cells, and fatal course. Abnormalities in chromosome 21 may have more than relationship to it. The authors report a case of acute megakaryoblastic leukemia in a 17 day-old male patient who was admitted for evaluation of high fever and dyspnea. The infiltration of atypical megakaryocytes...
A Case of Lissencephaly with West Syndrome.
Byoung Yul Lim, Ji Ho Song, Sa Jun Chung, Chang Il Ahn
Clin Exp Pediatr. 1990;33(10):1413-1417.   Published online October 31, 1990
Neuronal migrational disorders of the brain represent abnormalities in the formation of the neocortex caused by faulty migration of the subependimal neuroblasts. Lissencephaly is a rare congenital anomaly representing an arrest of brain development before the third or fourth month of gestaional age. The most common clinical findings were seizure, delayed development, failure to thrive and hydrocephalus. The authors experienced a case of lissencephaly with...
Thyroid function Study in Respiratory distress Syndrome.
Sung Soo Kong, Mi Young Chung, Dong Hyunk Kum
Clin Exp Pediatr. 1990;33(10):1394-1398.   Published online October 31, 1990
It has been known that intrauterine thyroid hormone deficiency may be one of the factors predis- posing to RDS in premature infants. L-thyroxine has been shown to increase the production opf lung surfactant, widely accepted as deficient in RDS infants, as association between lung immaturity and fetal thyroid function is postulated. The authors investigated thyroid hormone concentration at birth and 5, 15 days of...
A Case of 9p-Syndrome.
Bok Hoi Kim, Shin Heh Kang, Kir Young Kim, Kyung Ja Cho, Kyung Hee Ha, Bum Suk Lee
Clin Exp Pediatr. 1990;33(9):1262-1265.   Published online September 30, 1990
We experienced a case of 9p- syndrome in a 2 year and 5 month old male child who manifested psychomotor retardation and multiple congenital anomalies. His karyotype was 46, XY, del (9) (p22). A brief review of literature was also presented.
A Case of Adrenal Cortical Carcinoma.
Ho Won Kang, Hong Ja Kang, Hong Bae Kim, Ji Sub Oh
Clin Exp Pediatr. 1990;33(8):1159-1165.   Published online August 31, 1990
This is a case report of adrenal cortical carcinoma in a 2 year 7 month old male patient who was diagnosed by clinical features, endocrinologic studies, radiologic studies and pathologic examina- tions. Cushing syndrome and virilization caused by adrenal cortical carcinoma were found. Left total adrenalectomy was performed. No evidence of metastasis was found at the time of operation. 3 months later, lung metastases...
A Case of Hemolytic Uremic Syndrome.
Seung Cheol Lee, Chong Guk Lee, Seong Hwan Kim, Sang Woo Kim, Hyun Soon Lee
Clin Exp Pediatr. 1990;33(8):1140-1147.   Published online August 31, 1990
A female child aged 7 months was admitted because of high fever, vomiting and stuporous conciousness and revealed to have hemolytic uremic syndrome. Anuria persisted 13 days and required peritoneal dialysis 4 times a day during the anuric period. Her kidney function recovered somewhat after dialysis but neurologic complications of marked hydrocephalus and brain atrophy remained.
A Clinical Study on the Posterior Subcapsular Cataracts in Childhood Nephrotic Syndrome.
Dong Kyu Jin, Ja Wook Koo, Hae Il Cheong, Yong Choi, Kwang Wook Ko, Jong Hoon Lee, Young Suk Yu
Clin Exp Pediatr. 1990;33(8):1097-1103.   Published online August 31, 1990
A clinical study was carried out in 73 children with nephrotic syndrome who had had regular ophthalmologic examination annually at Seoul National University Children’s Hospital from March 1976 to February 1990 with the aim of finding the relationship between the posterior subcapsular cataract (PSC) and the effect of corticosteroids. The results were summarized as follows: 1) The number of patients with PSC were 23 cases...
A Case of (21q 21q) Translocation Down Syndrome Inherited from a t(21q 21q) Balanced Carrier Mother.
Byeong Gie Yeo, Chong Woo Bae, Yong Mook Choi, Chang Il Ahn, Bo Hoon Oh
Clin Exp Pediatr. 1990;33(7):1004-1008.   Published online July 31, 1990
Vast majority of t(21q 21q) Down syndrome occur de novo and familial cases are extremely rare. In familial translocation Down syndrome, One of the parent show 45 chromosomes. In general, the carrier parent carrying (21q 21q) translocation is phenotypically normal because significant amount of genetic material has not been lost in the translocation process. Homologous Robertsonian translocation can be produced either by abnormal gametogenesis...
A Case of Edward Syndrome.
Bong Hyune Chung, Hee Jung Seo, Young Hee You, Hyun Sook Lee
Clin Exp Pediatr. 1990;33(7):999-1003.   Published online July 31, 1990
A case of 18 trisomy syndrome in a female baby who bom at our K.V.H. was presented. The baby had multiple anomalies those were characterized by intrauterine growth retardation, narrow microce- phalic skull with prominent occiput, low-set malformed ears, micrognathia, rocker-bottom feet with short & big toe, shield-like chest and webbed neck. Chromosomal study showed trisomy 18. On autopsy, Horseshoe-kidney had been found.
Clinical Analysis of Children with Nephrotic Syndrome.
Ki Young Cheong, Keon Su Rhee
Clin Exp Pediatr. 1990;33(7):959-969.   Published online July 31, 1990
A clinical analysis was made on 51 cases with nephrotic syndrome who were admitted to Pediatric Department of Chung Nam National University Hospital from January 1st, 1984 to December 31st, 1988. Clinical manifestation, response to the inital continuous steroid therapy, relapsing patterns, factors affecting response to steroid therapy, pathologic findings and difference in laboratory findings between relapser and nonrelapser were evaluated. Results were as follows; 1) Among...
A Case of Poland's Syndrome.
Seok Gyoung Kang, Joo Tae Choi, Wha Mo Lee, Young Seok Jeon
Clin Exp Pediatr. 1990;33(6):860-863.   Published online June 30, 1990
Poland’s syndrome is a congenital disorder associated with absence of the pectoralis muscle and ipsilateral defect of the upper extremity, usually syndactyly. The syndrome is not hereditary and is of unknown origin. It affects males more frequently than females. Recently, we experienced a 1 year old male, who had the absence of right pectoralis muscle and ipsilateral syndactyly with hypoplasia of fingers.
A Case of Dandy-Walker Syndrome Associated with Multiple Congenital Anomalies.
Gye Weon Shin, Chul Ho Lee, Bo Kyung Cho, Chung Sik Chun, Sung Hun Cho
Clin Exp Pediatr. 1990;33(6):848-853.   Published online June 30, 1990
The Dandy-Walker Syndrome is a developmental disorders of the brain characterized by cystic deformity of fourth ventricle, agenesis or hypoplasia of the cerebellar vermis, and hydrocephalus. This syndrome is frequently associated with central nervous system malformation and systemic anomalies. We experienced a case in a 2-day-old female who has multiple congenital anomalies. On physical examinations, macrocephaly with prominent occiput, encephalocele in the occipital area, microphth- almia,...
An Experience of High Dose Intravenous Immunoglobulin Therapy in Refractory Evans Syndrome.
Hee Sup Kim, Won Sup Shin, Sang Il Lee, Sang Woo Kim
Clin Exp Pediatr. 1990;33(5):701-707.   Published online May 31, 1990
Evans syndrome, a combination of autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura, relapses freguently and is refractory to conventional treatment such as corticosteroid, immunosuppressive agents, splenectomy and plasma exchange. Recently Oda et al applied high dose immunoglobulin (400/kg/day for 4 days repeated 2 weeks later) to 5 month-old infant with refractory Evans syndrome, and was successful in maintaining remission for five years and nine...
A Case of Wilson-Mikity Syndrome.
Jung Suk Lee, Young Kyun Lee, Hyang Suk Yoon, Yeon Kyun Oh
Clin Exp Pediatr. 1990;33(5):675-679.   Published online May 31, 1990
Wilson-Mikity syndrome is a chronic lung disease in the premature infant characterized by respira- tory symptoms and became increasingly severe, and was associated with distinctive chest radiologic changes. We experienced a case of Wilson-Mikity syndrome in a premature infant. A brief review of related literature was made.
A Clinical Study on Reye's Syndrome.
Myeong Hee Cha, Seong Hee Shin
Clin Exp Pediatr. 1990;33(5):658-665.   Published online May 31, 1990
The auther analyzed the clinical features and prognosis of the 143 patients with Reye*s syndrome who were admitted at three hospital for 10 years from Jan. 1979 to Dec. 1988. The results were summarized as follows: 1) There was non significant difference in annual and seasonal incidence except slight higher incidence in 1981. 2) The male to female ratio was 1.4:1. The age distribution was from 3...
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...
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