• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.1
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• pp.20-29
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• 2013

Inborn error of metabolism usually presents with a constellation of clinical pictures involving multiorgan systems. Because of its rarity and clinical diversity, it is difficult to make diagnosis accurately and efficiently. Many inborn error of metabolism shows predominantly hepatic symptoms and signs. The onset of symptoms is also varying depending the disease. The onset might be even prenatal, either neonatal or infantile, and late childhood. The major manifestation patterns are jaundice or cholestasis, hepatomegaly with or without splenomegaly, hypoglycemia and acute or chronic hepatocellular dysfunction. Based on pronounced hepatic symptoms and onset of symptoms, differential diagnosis can be more easily made with subsequent further laboratory investigation. In this review paper, major inborn error of metabolism with hepatic symptoms are described from the perspective of mode of clinical presentations.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1003-1013
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• 2022

Biliary atresia is an unknown etiology of extrahepatic bile duct obstruction with a 'fibrous ductal remnant,' which represents the obliterated ductal remnant in the porta hepatis. The sonographic 'triangular cord' (TC) sign has been reported to indicate a fibrous ductal remnant in the porta hepatis. In this review, we discuss the correlations among surgicopathological and sonographic findings of the porta hepatis and the definition, objective criteria, diagnostic accuracy, and differential diagnosis of the TC sign in biliary atresia.

• Clinical and Experimental Pediatrics
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• v.52 no.8
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• pp.888-892
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• 2009

Purpose : To evaluate the risk factors for hospital readmission during the neonatal period among late preterm infants who were discharged after nursery care. Methods : In this retrospective study, we reviewed medical records of 135 late preterm infants readmitted to the neonatal intensive care unit (NICU) during the neonatal period, after discharge from nursery of IL Sin Christian Hospital from January 2003 to December 2008. We compared the risk factors of the hospital readmission group with the control group. Results : The gestational age and birth weight of 135 study infants were $36^{+1}{\pm}0.5$ weeks and $2,718.4{\pm}296.9gm$, respectively. Identified risk factors of hospital readmission were breastfeeding (71.9% vs. 44.4%), short duration of nursery stay ($3.3{\pm}1.6$ days vs. $4.1{\pm}2.0$ days), firstborn (60.0% vs. 45.3%), and maternal pregnancy complication (31.9% vs. 18.8%). Jaundice accounted for the majority of hospital readmissions (83.7%), and the age at hospital readmission was $6.2{\pm}3.6$ postnatal days, mostly at 5-6 postnatal days (40.7%). Identified risk factors of hospital readmission due to jaundice were spontaneous normal vaginal delivery (43.4% vs. 1.8%), younger maternal age ($29.8{\pm}3.4$ yrs vs. $32.1{\pm}4.2$ yrs), and lower maternal pregnancy complication (28.3% vs. 50%). Conclusion : Identified risk factors of hospital readmission were breastfeeding, short duration of nursery stay, firstborn, and maternal pregnancy complication. Jaundice accounted for the majority of hospital readmissions, and the age at hospital readmission was $6.2{\pm}3.6$ postnatal days.

• Journal of Yeungnam Medical Science
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• v.5 no.2
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• pp.161-169
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• 1988

Neonatal sepsis is a frequent and important cause of morbidity and mortality in the neonatal period. This study was undertaken to observe the 55 cases of proven neonatal sepsis among 6,717 newborn infants under 4 weeks of age, admitted to the nursery of Yeungnam University Hospital from May 1, 1983 to April 30, 1988. We observed following results : 1. The morbidity rate of male(1.12%) was higher than that of female(0.44%) significantly (p<0.05). 2. The morbidity rate of prematurity(2.65%) was higher than that of full term(0.76%) significantly (p<0.05). 3. The incidence of perinatal obstetric complications in early onset neonatal sepsis was higher than that of late onset neonatal sepsis (38.5% vs 10.3%, p<0.05). 4. The common clinical manifestations were poor feeding(52.7%), jaundice(45.5%), diarrhea(30.9%) and irritability (30.9%). 5. Among the causative organisms, gram positive organisms were predominated and Staphylococcus epidermidis was the most common organism. There was no difference in the causative organisms between early onset and late onset sepsis.

• Advances in pediatric surgery
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• v.3 no.2
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• pp.168-171
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• 1997

Appendiceal perforation is uncommon in the neonate. Diess reported the first case in 1908. Approximately 111 additional cases have been reported since that time. However, with exclusion of neonatal appendicitis associated with inguinal or umbilical hernias, necrotizing enterocolitis, meconium plug, and Hirschsprung's disease, there are only 36 cases of primary neonatal appendicitis. We treated a 12 days old boy with perforation of the appendix. The infant was 3000 g at birth and had a normal spontaneous vaginal delivary at 35 weeks of gestation. The mother was 31-year-old and had premature rupture of membrane. After normal feeding for the first 5 days of life, the infant had emesis of undigested milk, decreased activity and jaundice. The baby was admitted to the Pediatrics. Progressive abdominal distension, fever, decreased activity, and vomitting developed over the next six days. Erect abdominal radiography showed pneumoperitoneum. At exploratory laparotomy, a $0.8{\times}0.6$ cm sized perforation was noted at antime-senteric border of midportion of the appendix. Trasmural inflammation and the presence of ganglion cells were noticed on histology.

• Journal of Yeungnam Medical Science
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• v.4 no.2
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• pp.97-103
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• 1987

Neonatal and obstetrical problems related to the low birth weight infants were evaluated by a retrospective review of the medical records of the 186 low birth weight infants born at Yeungnam-University Hospital during 3 years and 8 months from May 1, 1983 to February 28, 1987. The results were as follows ; 1. The incidence of the low birth weight infants was 4.98% among 3803 live births. 2. Male to female ratio was 1.02:1. 3. The incidence of the low birth weight infants was lowest in mothers of 25 to 29 years, increased in mothers of 19 years of less and 30 to 39 years significantly. 4. There was no difference in the incidence of low birth weight infants between primiparous and multiparous mothers. 5. Common obstetrical complications associated with low weight infants were multiple pregnancy, toxemia and premature rupture of membrane in order of frequency. 6. Common neonatal problems in low birth weight infants were jaundice, idiopathic respiratory, distress syndrome, asphyxia and metabolic dfrangement such as hypocalcemia and hypoglycemia in order of frequency.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.186-190
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• 2014

Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intraphepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset CTLN2. Clinical manifestations of NICCD include poor growth, intrahepatic cholestasis, liver dysfunction and increased plasma citrulline, methionine, threonine, arginine. The molecular diagnosis could be confirmed by SLC25A13 gene mutation analysis. A 3-month-old male infant with persistent jaundice was referred for evaluation. Newborn screening was normal at birth. Mild elevation of serum ammonia and AST/ALT were observed. Plasma amino acid analysis showed significantly elevated citrulline, methionine, threonine. DNA sequence analysis of the SLC25A13 gene revealed two compound heterozygous mutations, c.[852_855del]($p.Met285Profs^*2$) and [1180+1G>A]. We suggest that NICCD should be considered as one of the cause of in infants with cholestatic jaundice, although the newborn screening was normal.

• Journal of Korean Academy of Nursing
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• v.33 no.1
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• pp.51-59
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• 2003

Purpose: The purpose of the study is to investigate the relationship between total serum bilirubin(TSB) and transcutaneous bilirubinometry(TcB) in neonates with jaundice. Method: TcB from various sites(forehead, sternum, abdomen, buttock, hand, dorsalis-pedia) was measured using a JM-102 in a total of 102 neonate, 42 female and 60 male, with the mean 37.5 gestational week and the mean 2,903 gram of birth weight, as well as TSB from capillary punctures. Result: The mean bilirubin was 11.73 in serum, 20.55 on the forehead, 17.23 on the sternum, 16.19 on the abdomen, 18.22 on the buttock, 15.83 on the hand and 15.49 on the dorsalis-pedia. The relationship between TSB and TcBs were formulated by simple regression with 0.406 < r < 0.668(p < .000). A higher relationship was revealed between TSB and TCB at the forehead in infants of full-term, ABO incompatibility, and Hb greater than 16 mg/dl(r =0.725, 0.790, and 0.717, retrospectively). Phototherapy altered the measurement of TcB per site. Conclusion: TcB on the forehead is a reliable, noninvasive and convenient measurement of TSB in normal infants(Institutions need to establish quantitative equations representing the specific relationship between TSB and TCB according to the hemodynamic problems of infants such as ABO incompatibility, or low Hb).

• Neonatal Medicine
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• v.17 no.2
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• pp.266-269
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• 2010

Gilbert's syndrome is caused by a reduction in the activity of uridine diphosphate glucuronosyltransferase (UGT) and induces chronic, non-hemolytic unconjugated hyperbilirubinemia. It has been suggested that 3-10% of the population has Gilbert's syndrome. Commonly, Gilbert's syndrome causes mild symptoms. However, a case of Gilbert's syndrome with severe neonatal hyperbilirubinemia is presented here. The patient developed jaundice three days after birth. Five days after birth, the patient's total serum bilirubin level was 34 mg/dL. The patient received intensive phototherapy and was given oral phenobarbital. Hemolytic hyperbilirubinemia was excluded on the basis of laboratory tests. Heterozygote polymorphisms of the promoter region (-3279T>G) and exon 1 (211G>A) were found in UGT1A1 gene. After discharge, the patient did not require any further treatment. This is the first case of proven Gilbert's syndrome with severe neonatal hyperbilirubinemia in Korea.

• Advances in pediatric surgery
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• v.7 no.2
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• pp.95-104
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• 2001

Biliary atresia (BA) is very difficult to distinguish from neonatal hepatitis (NH) and its prognosis depends on the age at the time of Kasai operation. Therefore early differentiation between these two conditions is very important. Although various clinical and laboratory tests have been reported to differentiate between them, they are still of limited value. From 1980 to 1999, forty-five infants were referred to our pediatric surgical unit for operation for suspected BA. Eight patients underwent Kasai operation immediately because of late diagnosis. These were excluded from the study. The clinical history, physical findings. radiologic and laboratory examinations of 37 cases were analyzed retrospectively. The average age of BA (n=20) was $55.1{\pm}16.7$ days, and that of NH (n=17) was $55.8{\pm}15.6$ days. The sex ratio of BA was 13:7, and that of NH was 14:3. All the patients had obstructive jaundice and acholic stool except 4 BA and 6 NH patients. Acholic stool with yellow component was more frequent in NH. Onset of jaundice was within 2 weeks after birth in 85 % of BA, and in 65% of NH. The onset of acholic stool was within 2 weeks after birth in 60 % of BA, and in 23.5 % of NH. The duration of jaundice and acholic stool of BA were $50.9{\pm}16.6$ days and $41.3{\pm}18.4$ days and those of NH were $40.1{\pm}23.1$ days and $26.6{\pm}25.4$ days respectively. The ultrasonogram and hepatobiliary scan were useful, but not a definitively reliable method for the differentiation of these two diseases. There was no difference in laboratory data. Seventeen cases had NH among 45 referred cases for Kasai operation with the clinical impression of BA, and 4 cases of 17 NH cases needed to be explored to rule out BA. In conclusion. false positive rate of clinical impression of BA was 37.8 %. and negative exploration rate was 8.9 %, Therefore. careful clinical observation for 1-2 weeks by an experienced pediatric surgeon was very important to avoid unnecessary operation to rule out NH up to the age of 8 - 10 weeks. so long as the stool had yellow component.