No abstract available.
Adolescent* ; Child* ; Humans

No abstract available.
Infant, Newborn ; Metabolism, Inborn Errors* ; Neonatal Screening*

No abstract available.
Pediatric Obesity*

Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent forrn. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia. (J Korean Pediatr Soc 2000;43:828-831)
Humans ; Hypothermia ; Intellectual Disability ; Isovaleryl-CoA Dehydrogenase ; Lethargy ; Metabolism ; Seizures ; Siblings* ; Vomiting

PURPOSE:The project of the neonatal mass screening test for inborn errors of metabolism are just at the beginning in Korea and there was a few reports about the overall incidence and subtypes of congenital hypothyroidism. METHODS:In this study, we analysed the 97 cases of newborns with hyperthyrotropinemia who were detected by neonatal screening test to identify the incidence and early clinical manifestations of each subtypes of congenital hypothyroidism. Thyroid function were measured by thyrotropin(TSH) level, T4, T3, Free T4, Free T3, thyroglobulin, T3 resin uptake, TBII, TBG in serum, thyroid ultrasonography and 99mTc thyroid scan. We reanalysed the thyroid functions 1 week after discontinuance of L-thyroxine treatment for 1 year. RESULTS: 1) The time of neonatal screening test were between 3 and 7 days after birth in 46 cases(47.4%) and 8 and 14 days after birth in 35 cases(36.1%). Two cases (2.1%) were done neonatal screening test at the age of 2 days old. 2) The major cause of thyroid disorders were primary hypothyroidism in 45 cases of the total due to thyroid aplasia(7 cases), thyroid hypoplasia(17 cases), ectopic thyroid gland(12 cases) and dyshormonogenesis(9 cases). Other causes of thyroid disorders were TBG deficiency(11 cases), TBG dysfuction(1 case), transient hyperthyrotropinemia(28 cases) and transient hypothyroidism(12 cases). 3) Serum level of thyrotropin(TSH) at diagnosis were 223.5+/-229.6microU/ml in thyroid aplasia, 41.6+/-42.9microU/ml in thyroid hypoplasia, 52.4+/-55.6microU/ml in ectopic thyroid gland. TSH levels were significantly high in thyroid aplasia. T4 levels in thyroid aplasia are 1.7+/-2.0microg/dl and this is significantly lower than other types of thyroid disorders. T3 levels were within normal range except in thyroid aplasia and TBG deficiency. 4) Prolongation of physiologic jaundice was the most common clinical manifestation(33.3%) in patients with primary hypothyroidism and macroglossia, hypothermia, umbilical hernia and cold skin were the next commom clinical manifestations in order to present. 5) Osseous development was normal in 57 cases(82.6%) out of 69 cases who accomplished roentgenographic examination of knees. Only 12 cases(17.4%) showed retardation of osseous development, but there was no significant differences between types of thyroid disorders. 6) Most of the newborn(93.3%) with primary hypothyroidism started to treatment within 8 weeks of age. 7) Initial dosage of L-thyroxine was 10microg/kg/day and decreased 6 to 12 months after treatment. 8) There was significantly decreased thyroid uptake of 99mTc after 1 year follow-up in 5 cases of dyshormonogenesis. 9) The serum TSH levels returned to normal ranges within 6 month after treatment in transient hypothyroidism and transient hyperthyrotropinemia. CONCLUSIONS:Special attention should be paid to transient hyperthyrotropinemia and transient hypothyroidism because many of the congenital thyroid disorders showed transient type and it is necessary to establish the diagnostic guideline to early detect these transient types of congenital thyroid disorders.
Congenital Hypothyroidism ; Diagnosis ; Follow-Up Studies ; Hernia, Umbilical ; Humans ; Hypothermia ; Hypothyroidism ; Incidence ; Infant, Newborn ; Jaundice ; Knee ; Korea ; Macroglossia ; Mass Screening ; Metabolism, Inborn Errors ; Neonatal Screening* ; Parturition ; Reference Values ; Skin ; Thyroglobulin ; Thyroid Dysgenesis ; Thyroid Gland* ; Thyroxine ; Ultrasonography

No abstract available.
Humans

No abstract available.
Meconium* ; Peritonitis*

Postoperative CT scans for accuracy of pedicular screw placement were assessed in 20 patients (82 pedicular screws) treated with several kinds of pedicular screws. When putting screws, the position of the guide pin was confirmed by the image intensifier. The measurement of canal encroachment from the medial border of the pedicle and the angle of insertion through the body of each vertebra were assessed; 1. Fifty-five(69.1%) were placed within the pedicle. 2. Ten(12.2%) were placed within 2mm of the medial border of the pedicle. 3. Three(3.6%) had 2mm to 6mm canal encroachment with the patient developing neurologic complication that was improved 8 months after the operation. 4.Fourteen(17.1%) perforated the lateral border of the pedicle, but they were not associated with neurologic complication. 5. The screws placed within 2mm of the medial border of the pedicle had higher angle of insertion than the screws exactly within the pedicle. Even with the use of image intensifier, there was a high rate of pedicle disruption. We have to insert the screws more exactly according to true anatomic angle of the pedicle on each level of every vertebra from the entry point avoiding high angle of insertion to prevent any disruption of the medial border of the pedicle which may result in neurologic complication.
Humans ; Spine ; Tomography, X-Ray Computed

The association of colonic atresia in patients with Down syndrome is a rare anomaly. The incidence of congenital atresia of the gastrointestinal tract has been estimated to be about one in 1500 births. Colonic atresia is rarer still, and is throut to comprise about 5% to 10% of this group. This intestinal atresia occurs in about 30% to 50% of patient with Down syndrome. We experienced a case of Down syndrome associated with colonic atresia in a 1 day old male. His initial chief complaints at the admission were severe abdominal distension and Down appearance. Diagnosis was confirmed by chromosomal study and operative laparotomy with end-to-end ileodescending colostomy. We report the case with brief review of related literatures.
Colon* ; Colostomy ; Diagnosis ; Down Syndrome* ; Gastrointestinal Tract ; Humans ; Incidence ; Intestinal Atresia ; Laparotomy ; Male ; Parturition

No abstract available.
Humans ; Twins*