Infants & children with hypothyrodism usually manifest variable skeletal abnormality. These features are the delay in longitudinal bone growth, the delay in epiphyseal maturation (=delay in bone age), the disturbances in bone mineralization and charateristic multiple stippled epiphysis (cretenoid epiphyseal dysgenesis). But many pediatrician have only concerned about the delay in epiphyseal maturation. Epiphyseal dysgenesis can be used a marker to find out the begining... |
Unilateral lung agenesis is a rare disease with associated anomalies of soft tissue, the musculos- keletal system, cardiovascular system and gastrointestinal system in 50-60% of cases. When associat- ed anomalies are absent, the disease may not be discovered during a lifetime, but in most of the cases, frequent respiratory infection or associated anomalies make it possible for diagnosis of the disease. Since early diagnosis... |
Congenital hypofibrinogenemia is a rare congenital bleeding disorder, inherited by autosomal dominant or recessive trait. We experienced one case of congenital hypofibrinogenemia in 4 year-old female patient with chief complaints of headache and ecchymosis. History of continuous umbilical cord bleeding and frequent bleeding tendency against minor trauma were revealed on her past medical history. On laboratory data, bleeding time, platelet aggregation test were normal and... |
In agenesis of the corpus callosum, the major nerve fiber tracts that connect the two carebral hemisphere are absent, and various associated anomalies involve almost all organs. We experienced a case of corpus callosum agenesis associated with situs ambiguus that has not been reported until now. A brief review of related literatures was done. |
Mixed gonadal dysenesis is a disorder of sexual differentiation which is characterized by streak gonad associated with contralateral tesis, persistent Mullerian duct structures and/or sex chromosomal mosaicism most commonly with 45, X/46, XY. The authors experienced a case of mixed gonadal dysgensis in a 6-year old child who was reared as female and admitted due to clitoral enlargement. The patient had asymmetrical gonads consisted with... |
The syndrome of Mixed Gonadal Dysgenesis is characterized by a unilateral testis, usually intra- abdominal a streak gonad on contralateral side, persistent Mullerian structures and ambiguous genitalia. These patients are chromatin negative and exhibit XO/XY mosaicism, probably resulting from a cytogenetic error very early in embryogenesis. The testis and the streak gonad should be removed because of the potential devlopement of a gonadoblastoma and the virilization... |
26 cases of partial agenesis of the corpus callosum diagnosed at Pediatric Department of Yonsei Medical Center for 8 years from Jan. 1980 to Dec. 1987 and clinical information has been analized and we got following results. 1) The sex ratio of male to female was 1:1.9. 2) Among the 26 cases, 23 cases (88.5%) were diagnosed under 6 years old. 3) Clinical findings were... |
We experienced a case of Kartagener’s syndrome in a 15 year-old male patient who showed bronchiectasis, sinusitis, and situs inversus by X-ray and physical examination. We report a case of Kartagener's syndrome and a brief review of literliture was done. |
ABO hemolytic disease in newborn due to ABO incompatibility between mother and infant is one of common cause of neonatal hyperbilirubinemia and early detection has been emphasized due to its possible neurologic sequelae. Many studies reported prevalence difference of ABO hemolytic disease in various races, which could be ascribed to different frequency of ABO genes in races. From Feb. 1986 to May 1987 full... |
Osteogenesis imperfecta is an inherited disorder of connective tissue that affects the skeleton, ligament, skin, sclerae and dentin. It is thought to be characterized by the abnormal maturation of collagen in both mineralized and nonmineralized tissues. The three major clinical criteria are osteoporosis with abnormal fragility of the skeleton, blue sclerae and dentinogenesis imperfecta. The presence of two of these abnormalities confirms the diagnosis. We have... |
Severe iron deficiency anemia is occasionally accompanied by hypoproteinemia and edema. There is evidence that the hypoproteinemia is caused by increased intestinal loss of serum protein. We experienced a case, 1 year and 6 months old female patient with generalized edema, diagnosed as iron deficiency anemia with hypoproteinemia. After treatment with ferrous iron preparation, generalized edema was subsided, and hemoglobin value and serum protein... |
We have experienced a case of Potter syndrome recently. He was a newborn infant who suffered from severe respiratory distress soon after birth. His face was characterized by facies renalies and chest X-ray film revealed bilateral pneumothorax. Anuria since birth and findings of abdominal ultrasonography strongly suggested bilateral renal agenesis. Severe respiratory acidosis was progressed in spite of proper management and died at 11... |
The authors experienced a case of unilateral renal agenesis associated with hydronephrosis resulted from U.P.J. obstruction of contralateral kidney. The patient was a 7 year old girl who was hospitalized with sudden onset of renal failure and the diagnosis was made by intravenous pyelography, abdominal ultrasonogram and C-T scan. Patient was almost completely recovered with peritoneal dialysis and surgical operation. A brief review... |
The authors experienced a case of osteogenesis imperfecta in a 1 st day of life male patient. Characteristic findings of this disease are spontaneous fractures of bones, hypermobility of joints, otosclerosis, deafness and blue sclera. Diagnosis was confirmed by clinical symptoms and radiologic findings. Related literature was briefly reviewed. |
Osteogenesis imperfecta is an inherited disorders of connective tissue that affects the skeleton, ligament, sclera, and dentin. Characterized clinical manifestation are multiplefracture, blue sclera, deafness, joint laxity, thin skin, and odontogenesis imperfecta. We experienced acase of osteogenesis imperfecta in a one day old male newborn who chiefly complain respiratory distress, triangular shaped head and fracture and deformity of lower extremity.... |
Sacral agenesis is a rare congenital anomaly of the lower vertebral column which usually produces lower urinary tract dysfunction. The authors have reported a case of sacral agenesis which was found in a l-year-4-month old girl, who was born of a diabetic mother and had been suffered from recurrent urinary tract infection. A brief review of literatures was made. |
Genetic skeletal dysplasias(osteochondrodysplasias) are a heterogenous group of conditions characterized by disordered growth of the various components of the skeleton, leading to disproportionate short status, deformity, or other structural and functional abnormalities of individual skeletal elements. Author experienced a case of the genetic skeletal dysplasia newborn who was born in Dong Bu City Hospital. |
Agenesis of the corpus callosum is a relatively common malformation that may occur in isolation or in combination with other cerebral malformation. We experienced a case of agenesis of the corpus callosum in a 5/12 year old boy who showed developmental retardation. Cerebral brian CT and sonography demonstrated a typical picture of agenesis of the corpus callosum without any further... |
A 8-year old boy with acute lymphocytic leukemia who had shown resistance to repeated combination chemotherapies, was successfully grafted with bone marrow from his HLA- matched sister. He was in the third partial remission at the time of bone marrow transplantation. He was conditioned with cyclophosphamide 60 mg/kg/day on two consecutive days, followed by 800 rads total body irradiation. Marrow... |
Lung agenesis is defined as total absence of pulmonary parenchyma with its supporting vasculature, as well as the main stem bronchi on one or both sides. This anomaly is usually associated with extrapulmonary anomalies such as cardiac, vascular, gastrointestinal, skeletal, genitourinary, and miscellaneous anomalies. We experienced a case of unilateral lung agenesis(Right) in a three days old female premature baby, who... |
Osteogenesis imperfecta is an inherited disorder of connective tissue that affects the skeleton, ligaments, skin, sclera and dentin. We experienced a 2 month old female infant of osteogenesis imperfecta. The present case showed failure to thrive, multiple fracture of the bone, thinning of cortex, osteoporosis, blue sclera, high-arched palate and craniotabes. For the treatment of the fracture of right femur,... |
Congenital adrenal agenesis or hypoplasia is very rare disorder which causes adrenal insufficiency. It is usually the result of an isolated defect of organogenesis. It may be sporadic, or it may express itself as an autosomal recessive or X-linked disorder within families. We experienced a baby who revealed hyperpigmentation, hypoglycemia, hyperkalemia and hyponatremia immediately after birth. Hormone study was compatible with primary adrenal insufficiency. Complete... |
A clinical study was done in 20 cases of HBs antigenemia associated membranous nephropathy admitted to the Department of Pediatrics, Yonsei University, College of Medicine, Severance hospital from Jan. 1979 to May 1984. The results are as follows; 1)The age distribution was from 2 years and 5 months to 14 years, and the mean age was 7 years and 10... |
An in-vitro sensitivity of Ceftizoxime sodium (CZX), a third generation Cephalosporin, using Epocelin® (a product of Fujisawa Pharmaceutical Central Laboratory, Japan), was studied against various bacterial strains isolated from the children with infections hospitalized on the pediatric ward of Hanyang University Hospital during the period from February, 1983 up to June, 1983. And therapeutic responses were observed in 26 pediatric... |
We experienced a case of Chronic Active Hepatitis with vertical transmission in a 4-year-3-month old boy. Diagnosis of CAH was confirmed by histologic features of liver biopsy. The mode of infection in this case was suspected as vertical transmission by clinical history. His mother had acute hepatitis B in the last trimester of the pregnancy of this boy and had... |
Osteogenesis, imperfecta is an inherited disorder of connective tissue characterized by multiple fractures, blue sclerae, progressive deafness, loose jointedness, and skin. We experienced a case of Type I osteogenesis imperfecta in a 2 months old male infant who visited our hospital with chief complaints of generalized growth retardation, blue sclera and frequent fractures and deformities of limbs. With typical manifestation... |
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... |
The Gianotti-Crosti syndrome is an. infrequently recognized disorder with distinctive clinical features. We have experienced two cases of Gianotti-Crosti syndrome diagnosed by clinical manifestation, laboratory data and histopathologic finding of skin. Case one; An 18-month-old girl was admitted to the pediatric ward with the chief complaint of erythematous rash. Its onset was preceded by an. upper respiratory tract infection. She had a wide spread erythematous... |
A case of Aicardi’s syndrome is experienced at the Department of Pediatrics, College of Medicine, Yonsei University recently. This patient was 50 days of female infant, who had infantile spasm, and her development was deteriorated recently. Her CT scan showed partial absence of corpus callosum and whose EEG was a pattern of modified hypsarrhythmia limited only on left hmisphere. She also had hemivertebra at... |
From November 1980 to June 1982, for 19 months, 636 cases of child epileptic patients were clinically investigated at Pediatric department of Yonsei Medical school, and obtained follo- wing results. 1. The epileptic patients was 4.4% of all the pediatric patients, visited or hospitalized during the same period of time. 2. Epilepsy was commoner in male child compare to female representing male to female ratio, 1.3:1. 3. The most common... |