Purpose : We have done this retrospective study to know the relative incidences and clinical manifestations of organic acidopathies in Korea. Methods : The results of quantitative organic acid analysis of 1,125 samples of 712 patients, referred from Jul. 1997 to Jun. 2000, were analyzed retrospectively according to four age groups (-2 mon, 3 mon-2 year, 3 years-12 years, over... |
β thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of β thalassemia have been identified in individuals who have inherited a single copy of an abnormal β globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there... |
Maple syrup urine disease is an autosomal recessive disease caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex. The disease is often suspected because of the peculiar odor of maple syrup in urine. Maple syrup urine disease is usually confirmed by amino acid analysis and urine organic acid analysis showing marked elevations of leucine, isoleucine, valine, and respective ketoacids in... |
Hereditary stomatocytosis is a rare congenital hemolytic anemia, named after mouth shaped or stomatocytic erythrocyte morphology. In this report, we present a case of a hereditary stomatocytosis in a 1 month old boy. During the initial identification process, we overlooked the morphology of the RBC in peripheral blood smear and tentatively diagnosed it to be a hereditary spherocytosis case. In order to... |
Purpose : There are many methods for the evaluation of the renal function. The proximal tubule of the nephrons have a role of reabsorption of the materials such as water, electrolytes, glucose, amino acids, and small molecular weight protein through the glomerular filtration. Therefore if abnormality is in the proximal tubule, these materials can be changed both in serum & urine. It is very... |
Benign epilepsy of childhood with centrotemporal spikes(BECCT) is an electroclinical syndrome characterized by noctural seizure that remit spontaneouly before adulthood, and belong to idiopathic age and location related epilepsies. We reviewed the medical records to analyse the seizure pattern, and also inspect the EEG recording to identify topography of the epileptiform discharge of 24 patient who met the following criteria: 1)presence... |
Urinary tract anomaly is the most common anomaly in childhood. We reviewed medical records of 45 patients who were confirmed urinary tract anomalies on radiologic studies as Chuncheon Sacred Hospital, from Dec. 1984 to Sep. 1992. We analyzed incidence and clinical characteristics of urinary tract anomalies. The results obtained were as follows: 1) The age distrtibution were: 17 cases (37.8%) under... |
We examined the effect of various levels of dietary protein on long term prognosis of Adriamycinephropathy of S-D rat, fed with high protein(30%), intermediately low(10%), and strictly low(5%) protein diet for 15 weeks 1) In rats fed with strictly low protein diets(5%), proteinuria and serum creatinine decreased and creatinine clearance and histological changes were relatively well preserved. But hypoproteinmia and weight... |
We experienced a extremely rare case of Stein-Leventhal Syndrome in 7 year-old female patient. Her chief complaints was severe obesity. We performed specific radiologic and hormonal studies. Diagnosis was suspected by pelvic sono and CT. We performed vertical gastroplasty with Taplon bandage for morbid obesity. A brief review of related literature was made. |
HDL choleaterol, copper, ceruloplasmin, zinc, and iron values of the blood of 85 newborns delivered at hallym University hospital from September, 1989 to February, 1991 were analysed. The results were as follows: 1) The mean value of HDL cholesterol in 50 normal newborns was 31.37¡¾9.47mg/dl, that of copper 80.54¡¾17.54ug/dl, that of ceruloplasmin 11.34¡¾6.37mg/dl, that of zinc 92.81¡¾79.74ug/dl, that of iron 198.98¡¾86.07 ug/dl. 2)... |
We observed a case of lamellar ichthyosis who was 4 day-old boy with the chief complaints of poor feeding, exessive lamellated scale covering entire body. Diagnosis of lamellar ichthyosis was estab- lished by clinical features and histopathological study. A brief review of literature was made. |
Congenital cystic adenomatoid malformation is a rare variant of pulmonary cystic disease char- acterized by a mass of cysts lined by proliferating bronchial or cuboidal epithelium. The onset of symptoms, which are cyanosis, and tachypnea, usually occurs during the first week of life. We have experienced a case of congenital cystic adenomatoid malformation in a 9 month-old female. The diagnosis was mady by chest... |
Leptospirosis is a zoonosis distributed worldwide. Ifs caused by spirochetes of the genus leptospira and charaterized by systemic and protean clinical manifestation. On August 1981, a diagnosis of this disease was made by a serologic test. Thereafter many cases were reported in adults, but there are no published reports in children. This report deals with one case of leptospirosis in children diagnosed by clinical... |
We experienced one case of rickettsia typhi. This 6 years old male was admitted to Sacred Heart Hospital because of fever, Headache and myalgia for 10 days. Physical examination showed him to have injection of throat, dry lips with no skin rash. In the laboratory findings, the CSF showed cell count 22/mm3and suger and protein were with in normal limit. In peripheral blood smear, moderate left... |
Prune belly syndrome is a very rare congenital anomaly characterized by congenital deficiency of the abdominal muscle wall and wrinkled irregular skin, prune like in appearance. It has been referred to as triad syndrome because three major features are seen in most cases: deficiency of the abdominal muscle wall, hydroureter and hydronephrosis, and cryptochidism. We report a rare case of... |
The authors observed 31 cases of congenital syphilis in the newborn and infants treated at pediatric ward of Han-Il Hospital during the period from Jan. 1965 to Feb. 1671. The results are as follows. 1)The number of patients was 31 cases, 23 in male and 8 in female. 2)The incidence of congenital syphilis in the newborn infants who were delivered... |
An 2. 7 kg weighing male baby was born with a large pedunculated mass in the occipital area of the head. The baby expired on 21st day after birth, due probably to infected cephalocele with diarrheal disorder. Postmortem examination revealed the following: All thoraco-abdominal viscera and vessels were in the mirror-image position of the normal. The heart was in the... |
Only few cases describing spontaneous fractures in tuberculous meningitis were reported in the literatures. Recently, we experienced two such cases, who daring their treatment for miliary tuberculosis and tuberculous meningitis developed spontaneous fractures of the lower extremities. Case 1: A 3 year and 4 month old Korean boy was admitted to Hanil Hospital on September 8,1966, with chief complaints of... |