Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

Masticator space abscess in a 47-day-old infant / 소아과

A 47-day-old male infant presented with fever, poor oral intake, irritability, and right-sided bluish buccal swelling. Contrast-enhanced computed tomography of the neck showed a round mass lesion of about 2.0x1.5 cm that suggested abscess formation in the right masticator space. Ultrasound-guided extraoral aspiration of the abscess at the right masseter muscle was successful. Staphylococcus aureus was identified in the culture from the aspirated pus and blood. Appropriate antibiotics were given and the patient recovered. The patient underwent follow-up ultrasonography that showed an improved state of the previously observed right masseter muscle swelling at about 1 month after hospital discharge. A masticator space abscess usually originates from an odontogenic infection in adults. We report a case of masticator space abscess in a 47-day-old infant in whom septicemia without odontogenic infection was suspected.

Carriage Rates of Methicillin-resistant Staphylococcus aureus in Neonates with Neonatal Jaundice / 소아감염

PURPOSE: It is known that carriage rates of Staphylococcus aureus (S. aureus) are highest in newborns and that the asymptomatic carriage of methicillin-resistant Staphylococcus aureus (MRSA) is associated with invasive MRSA infection with the colonizing strain. This study was carried out to investigate the carriage rates of MRSA in neonates with neonatal jaundice. METHODS: We reviewed the medical records of 545 neonates admitted with neonatal jaundice to neonatal intensive care units between January 2006 and December 2010. Nasal and inguinal swab specimens had been taken from them and cultured for the isolation of S. aureus. Antimicrobial susceptibility tests had been done for such isolates to determine methicillin-resistance. RESULTS: Out of 545 neonates, 318 (58.3%) were colonized with S. aureus and 214 (39.3%) were colonized with MRSA. Results of the antibiogram analysis showed that 65.7% of MRSA isolates were likely to be community-associated (CA) MRSA. CONCLUSION: Based on the MRSA carriage rate of 39.3%, a surveillance program for MRSA colonization is considered necessary in neonates transferred from other clinics or hospitals. Out of MRSA isolates, 65.7% were likely to be CA-MRSA. This suggests that CA-MRSA strains were already present in obstetric clinic environments where the neonates were born. It is thought that MRSA surveillance programs in these environments are also necessary.

Deep Neck Abscesses in Children and Adolescents: 10 Year Experience in Two General Hospitals / 소아감염

PURPOSE: The purpose of this study was to review our recent experiences with deep neck abscesses in children and adolescents and to provide helpful information in treatment and diagnosis by comparing them with those in other available literatures. METHODS: Medical records of 36 children and adolescents admitted for deep neck abscess at two hospitals from January 2000 to October 2010 were reviewed retrospectively. RESULTS: Male to female ratio was 1.4 : 1 and the mean age was 6.5 years. Painful neck swelling and fever were the most frequent symptoms in patients under thirteen years of age whereas trismus and headache were frequent symptoms in patients over fourteen years of age. Submandibular space was the most common site of deep neck abscess in patients under thirteen years of age, whereas peritonsillar space was the most common site in patients over fourteen years of age. The results of bacterial cultures were positive in 61.5% of drained cases. Staphylococcus aureus was the most commonly identified bacteria in 6 patients (37.5%) and 5 of them were under 2 years of age. Twenty six patients received surgical drainage while the others were treated with antibiotics only. There were no statistically significant differences in the durations of admission, fever after admission, and antibiotic treatment between surgical and medical treatment groups. CONCLUSION: The common sites of deep neck abscess, associated symptoms, and causative organisms were different between children and adolescents. As there were no differences in durations of admission, fever, or antibiotics treatments between surgical and medical treatment groups, surgical drainage may be avoided by early recognition and suspicion. However, if there is no improvement of symptoms or size of abscesses within 48-72 hours of antibiotic treatment, surgical drainage should be considered.

Nomogram of Transcutaneous Bilirubin Level after Birth Driven from a Single Center

PURPOSE: The goal of this study was to measure bilirubin levels over 6 hours using a transcutaneous bilirubinometer. The change in the bilirubin levels were recorded in a nomogram. The natural progress of jaundice in neonates was monitored using the nomogram and cases were identified that needed further follow-up observation and treatment. METHODS: The subjects of this study were 986 healthy term or near-term infants at the age of 35 weeks or older who were born at Sung-Ae General Hospital during the period from October 1, 2007 to April 30, 2009 and whose parents were both Koreans. Transcutaneous bilirubin measurements were obtained using a transcutaneous bilirubinometer (Minolta, JM-103) from 6 hours of life to discharge at intervals of 6 hours. A nomogram was derived from the obtained data and compared to the delivery method, gestational age, and feeding method. RESULTS: Percentile graphs were drawn according to time. Based on the graphs, phototherapy was necessary in more than 90 percent of the infants between 35 and 37.6 weeks of age and in 95 percent of the infants 38 weeks and older. The mean bilirubin level at 24, 48, 72 and 96 hours after birth were compared according to the delivery method, gestational age, and feeding method. The bilirubin level in 48 hours was significantly higher in neonates born via cesarean section delivery compared to the neonates born via vaginal delivery, however the levels were not statistically different at the other hours. CONCLUSION: The results of this study show the nomogram derived from hour-specific transcutaneous bilirubin levels. This information can be used to predict the risk for subsequent significant hyperbilirubinemia.

A Multicenter Study of Preterm Birth Weight and Gestational Age-Specific Neonatal Survival Rate and Causes of Death / 대한주산의학회잡지

OBJECTIVES: This multi-institutional study aims to investigate the survival rate of premature infants and the causes of death according to gestational age and birth weight during the past three years. METHODS: This study retrospectively examined medical records of 1,400 premature infants who were born at 23 to 34 weeks gestation and were hospitalized in the neonatal intensive care unit of seven hospitals from 2004 to 2006. Gestational age, birth weight, gender, plurality, survival rate, and cause of death were examined, and the survival rate was measured according to gestational age and birth weight. RESULTS: The average gestational age and the average birth weight of the subjects was 31+/-1.8 weeks and 1,775+/-530 g, respectively. The survival rate showed no difference by gender, plurality and years. The survival rate of very premature babies, low birth weight infants, very low birth weight infants, and extremely low birth weight infants were 87.6%, 93.8%, 83.2%, and 62.7% respectively. Causes of death were the complications of prematurity (83.8%), congenital anomalies (15.2%), birth asphyxia (5.0%) and others (2.5%). The survival rate increased significantly according to the gestational age and also by the birth weight. CONCLUSIONS: Our data do not represent of the survival rate and the causes of death in Korea. However, our data may reflect the common survival rate and the causes of death in Korean NICU, because the 7 hospitals participated in this study were common facilities and manpower in Korea.

The relationship between catechol-O-methyltransferase gene polymorphism and coronary artery abnormality in Kawasaki disease / 소아과

PURPOSE: Many gene polymorphisms are associated with coronary artery abnormalities in Kawasaki disease. Catechol-O-methyltransfe rase (COMT) plays an important role in the metabolism of catecholamines, catechol estrogen, and catechol drugs. Polymorphisms of the COMT gene are reported to be associated with myocardial infarction and coronary artery abnormalities. The aim of this study was to evaluate the relationship between COMT gene polymorphisms and coronary artery abnormalities in Kawasaki disease patients. METHODS: One hundred and one Korean children with Kawasaki disease and 306 healthy Korean control subjects were enrolled in this study. The polymorphisms of the COMT gene were analyzed by direct sequencing. RESULTS: There were no differences in the genotype and allelic frequency of the rs4680 and rs769224 polymorphic sites between Kawasaki disease and control subjects. Further, no significant difference was found in the rs4680 polymorphism between patients with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.32, dominant P=0.74, recessive P=0.13). However, the distribution of the rs769224 polymorphism was significantly different between patie nts with coronary artery abnormalities and patients without coronary artery abnormalities (codominant P=0.0077, dominant P=0.0021, recessive P=0.16). CONCLUSION: Our results indicate that the polymorphisms of the rs769224 gene might be related to the development of coronary artery abnormalities in Kawasaki disease.

Multicenter clinical study on birth weight and associated anomalies of single umbilical artery / 소아과

PURPOSE: To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. METHODS: Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. RESULTS: A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. CONCLUSION: The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.

Epidemiology of Bronchopulmonary Dysplasia in Korea: Multi-Center Study / 대한주산의학회잡지

PURPOSE: As the neonatal intensive care advanced, the incidence of neonatal bronchopulmonary dysplasia (BPD) has increased. We conducted a multi-center investigation of the prevalence of BPD in six hospitals to investigate the epidemiology of BPD in Korea. METHODS: Retrospective reviews ware performed for survival rate, prevalence of BPD of total 4,476 newborn infants who were admitted to neonatal intensive care unit in Konkuk university hospital, Sung-Ae General hospital, Kangbuk Samsung hospital, Chung-Ang university hospital, Konyang university hospital, and Gangneung Asan hospital between June, 2005 and May, 2007. By Ogawa, BPD was defined as oxygen dependency at 28 days after birth, with respiratory distress symptoms and the change of chest x-ray finding, and classified as 6 subtypes. Classic BPD was defined as oxygen dependency at 36 weeks of postmenstrual age. RESULTS: Survival rate at 28 day after birth was 98.7%. BPD infants by Ogawa classification were 70 (1.6% of overall newborn infants), classic BPD infants were 30 (0.7%). Especially, among 237 preterm infants with birth weight less than 1,500 gram who survived to 28 days of life, 60 (25.3%) had BPD by Ogawa classification and 23 (9.7%) had classic BPD. In Ogawa classification, infants with RDS as type I and II, were 17 infants (24.3%) and 44 infants (62.9%). Home oxygen therapy was performed 8 infants (11.4%). Prevalence of retinopathy of prematurity was 35 infants (50.0%), necrotizing enterocolitis was 3 infants (4.3%), and intraventricular hemorrhage was 6 infants (8.6%). CONCLUSION: Prevalence of BPD infants was 1.6% of overall newborn, 25.3% of preterm infants with birth weight less than 1,500 gram. Among 70 BPD infants, BPD by Ogawa classification with history of RDS as type I and II were 24.3%, 62.9% as the majority of BPD. This study would be the first report of epidemiology of Korean BPD infants by multi-center study.

Comparative study of newborns of Asian immigrant and Korean women / 소아과

PURPOSE: This study compares the maternal characteristics and birth outcomes of infants of Asian immigrant mothers from developing countries with those of the infants of Korean mothers. METHODS: In this multicenter and retrospective study, Asian immigrant women who had delivered between January 2005 and June 2008 were enrolled from9 Medical Centers. In all, 333 births to Asian immigrant women from developing countries (Asian-Korean infants) were included in this study. In addition, sex-, birth year-, and gestational age-matched 333 neonates born to Korean mothers were selected as the control group (Korean infants). On the basis of the hospital data, we investigated the nationality, age, and medical history of the mothers and compared the incidence of congenital infection, Apgar score, weight, height, and head circumference of Asian-Korean infants with those of the Korean infants. RESULTS: The average maternal age of Asian women from developing countries at birth term was 26.7 years, which was significantly lower than that of Korean women (30.8 years, P<0.05). The birth weight of Asian-Korean infants (2,869 g) was significantly smaller than that of Korean infants (2,995 g, P<0.05). There was a significant difference in the incidence of congenital syphilis infection between the Asian-Korean infants and Korean infants (5 cases vs. 0 case, P<0.05). CONCLUSION: There were significant differences in the perinatal outcomes between the Korean and Asian-Korean infants. A multicenter large-scaled study should be performed to analyze the perinatal outcomes of Asian-Korean infants.

The relationship between Gly71Arg and TATA box polymorphism of UGT1A1 gene and prolonged hyperbilirubinemia of breast milk feeding infant in Korean / 소아과

PURPOSE: It has been known that breast milk cause prolonged unconjugated hyperbilirubinemia. UGT1A1 is a important gene of uridine diphosphate glucuronosyltransferase (UGT) which has a major role of bilirubin metabolism. These findings suggest that there is a relationship between UGT1A1 gene mutation and prolonged jaundice of breast feeding infant. The aim of study was to investigate whether a polymorphism of the UGT1A1 gene exist in prolonged hyperbilirubinemia of breast milk feeding Korean infant. METHODS: The genomic DNA was isolated from 50 full term Korean neonates, who had greater than a 10 mg/dL of serem bilirubin after 2 weeks of birth with no significant cause, and the other genomic DNA was isolated from 162 full term Korean neonates of the control population. Both group fed breast milk. We performed direct sequencing of TATA box and Gly71Arg polymorphism of the UGT1A1 gene. RESULTS: Two of the 50 neonates with hyperbilirubinemia had AA polymorphism, and 40 had GA polymorphism. Five of the 129 neonates of the control group had AA polymorphism, and 4 had GA polymorphism. The allele frequency of G>A polymorphism in the hyperbilirubinemia group was 44.0%; it was significantly higher than 5.4% of the control group. TATA box polymorpism was not different both group significantly. CONCLUSION: Our result indicated that Gly71Arg polymorphism is associated with the prolonged hyperbilirubinemia of breast milk-feeding infant in Korean, while TATA box polymorphism is not associated with the prolonged hyperbilirubinemia of breast milk-feeding infant in Korean.

Glutathione S-transferase polymorphism of neonatal hyperbilirubinemia in Korean neonates / 소아과

PURPOSE: Glutathione S-transferase (GST) is a polymorphic supergene family of detoxification enzymes that are involved in the metabolism of numerous diseases. Several allelic variants of GSTs show impaired enzyme activity and are suspected to increase the susceptibility to diseases. Bilirubin is bound efficiently by GST members. The most commonly expressed gene in the liver is GSTM1, and GSTT1 is expressed predominantly in the liver and kidneys. To ascertain the relationship between GST and neonatal hyperbilirubinemia, the distribution of the polymorphisms of GSTT1 and GSTM1 were investigated in this study. METHODS: Genomic DNA was isolated from 88 patients and 186 healthy controls. The genotypes were analyzed by polymerase chain reaction (PCR). RESULTS: The overall frequency of the GSTM1 null was lower in patients compared to controls (P=0.0187, Odds ratio (OR) =0.52, 95% confidence interval (CI), 0.31-0.88). Also, the GSTT1 null was lower in patients compared to controls (P=0.0014, OR=0.41, 95% CI=0.24-0.70). Moreover, the frequency of the null type of both, in the combination of GSTM1 and GSTT1, was significantly reduced in jaundiced patients (P=0.0008, OR=0.31, 95% CI=0.17-0.61). CONCLUSION: We hypothesized that GSTM1 and GSTT1 might be associated with neonatal hyperbilirubinemia. However, the GSTT1 and GSTM1 null type was reduced in patients. Therefore the null GSTT1, null GSTM1, and null type of both in the combination of GSTM1 and GSTT1 may be not a risk factor of neonatal jaundice.

A Case of Gallbladder Stones Associated with Anti-E Antibody Hemolytic Disease in a Neonate

Cholelithiasis is rarely recognized in children, especially in infants. Hemolytic disorders, long-term total parenteral nutrition (TPN), congenital anomalies of the biliary tree leading to stasis of bile flow, congenital IgA-deficiency, furosemide treatment, and prolonged fasting have been reported as predisposing factors for cholelithiasis in childhood. Hemolytic disease of the newborn due to anti-E has rarely been reported as a risk factor for cholelithiasis. We report a case of gallbladder stones in a neonate associated with anti-E antibody hemolytic disease.

The relation between angiotensin converting enzyme (ACE) gene polymorphism and neonatal hyperbilirubinemia in Korea / 소아과

PURPOSE: Human angiotensin converting enzyme (ACE) gene shows an insertion/deletion polymorphism in 16 intron, and three genotypes are determined by whether a 287 bp fragment of the DNA is present or not; II, ID and DD genotype. DD genotype has been suggested as a risk factor of chronic nephrotic disease such as IgA nephropathy and diabetic nephropathy, various cardiovascular diseases and several other diseases. ACE activity increases in acute hepatitis, chronic persistent hepatitis, chronic active hepatitis and cirrhosis. On the other hand, patients with fatty livers have normal ACE activity. This study was designed to find out the relation between polymorphsims of the ACE genes and neonatal hyperbilirubinemia in Koreans. METHODS: The genomic DNA was isolated from 110 full-term Korean neonates who had hyperbilirubinemia with no obvious causes (serum bilirubin?12 mg/dL) and 164 neonates of a control population (serum bilirubin?12 mg/dL). We performed polymerase chain reaction (PCR) to see the allele of the ACE gene. Electrophoresis was done in the PCR products in 1.5 percent agarose gel, and then DNA patterns were directly visualized under ethidium bromide staining. RESULTS: ACE genotypes in the hyperbilirubinemia group are as follows; 26.36 percent for II, 53.64 percent for ID, 20.00 percent for DD, 0.532 for I allele and 0.468 for D allele. These distributions were not significantly different from those in the control group; 24.39 percent for II, 51.83 percent for DI, 23.78 percent for DD, 0.503 for I allele and 0.497 for D allele. CONCLUSION: In this study, ACE gene polymorphism was detected in the neonatal hyperbilirubinemia and control group. The most frequent genotype was ID. Our results indicate that the ACE gene polymorphism is not associated with the prevalence of neonatal hyperbilirubinemia in Koreans.

A case of congenital neurocutaneous melanosis / 소아과

Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign pigment cell tumors of the leptomeninges. Neurocutaneous melanosis is thought to represent an error in the morphogenesis of embryonal neuroectoderm. We experienced a neonate who presented with giant, dark colored pigmented nevi covering chest, abdomen, neck and arms, with satellite lesions. Magnetic resonance image showed a nodular hyperintense lesion in the amygdala of the right temporal lobe, and T1-weighted images showed hyperintensities in the adjacent leptomeninges. We report a rare case of neurocutaneous melanosis with a brief review of related literature.

1828G > A polymorphism of the UDP-glucuronosyltransferase gene (UGT1A1) for neonatal hyperbilirubinemia in Koreans / 소아과

PURPOSE: The incidence of neonatal hyperbilirubinemia is twice as high in East Asians as in Caucasians. However, its metabolic basis has not been clearly explained. The UDP-glucuronosyltransferase gene(UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. We studied whether neonatal hyperbilirubinemia is associated with the 1828G>A(rs 10929303) polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism. METHODS: The genomic DNA was isolated from 80 Korean full term neonates who had greater than a 12 mg/dL level of serum bilirubin with no obvious cause, and the genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1828G>A in the untranslated region of the UGT1A1 gene by direct sequencing. RESULTS: Three of the 80 neonates with a serum bilirubin level above 12 mg/dL had homozygous mutations and 10 of the 80 neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutations. Thirteen of the 164 neonates of the control group had homozygous mutations and 16 neonates of the control group had heterozygous mutations. The allele frequency of 1828G>A polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allele frequency of 12.8 percent in the control group. CONCLUSION: In this study, the 1828G>A polymorphism of the UGT1A1 gene was detected in the Korean neonates with neonatal hyperbilirubinemia. Our results indicated that this SNP is not associated with the prevalence of hyperbilirubinemia in Koreans.

1956G>C Polymorphism of the UDP-glucuronosyltransferase Gene (UGT1A1) for Neonatal Hyperbilirubinemia in Koreans

PURPOSE: The incidence of neonatal hyperbilirubinemia is twice as high in Eastern Asians as in Caucasians. Although it has not been clearly defined, the UDP-glucuronosyltransferase gene (UGT1A1) mutation was found to be a risk factor of neonatal hyperbilirubinemia. This study is to find an association of 1956G>C polymorphism of the UGT1A1 gene, which encodes for a key enzyme of bilirubin metabolism and neonatal hyperbilirubinemia in Korean infants. METHODS: The genomic DNA was isolated from 80 Korean full term neonates whose serum bilirubin greater than 12 mg/dL with no obvious cause. The genomic DNA was also isolated from 164 Korean neonates of the control population. We studied a single nucleotide polymorphism (SNP) of 1956G>C in the untranslated region of the UGT1A1 gene by direct sequencing. RESULTS: Three of the 80 neonates with a serum bilirubin level above 12 mg/dL had homozygous mutation and 10 of the neonates with a serum bilirubin level above 12 mg/dL had heterozygous mutation. Thirteen of the 164 neonates of the control group had homozygous mutation and 16 neonates of the control group had heterozygous mutation. The allele frequency of 1956G>C polymorphism of UGT1A1 in the hyperbilirubinemia group was 10.0 percent, which was not significantly different from the allelic frequency of 12.8 percent in the control group. CONCLUSIONS: In this study, the 1956G>C polymorphism of the UGT1A1 gene was detected in the Korean neonates with neonatal hyperbilirubinemia. Our results indicated that this SNP is not associated with the prevalence of hyperbilirubinemia in Korean.

The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates / 소아과

PURPOSE: The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. METHODS: Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. RESULTS: Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). CONCLUSION: The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.

A Case of Meconium Hydrocele Presenting as Inguinal Mass in a Female Newborn

Meconium peritonitis results from in-utero perforation of gastrointestinal tract, with subsequent leakage of meconium into the peritoneal cavity. Patent processus vaginalis of male or female fetus may lead to migration of meconium into inguinal canal, and these infants may present meconium filled hydroceles at birth. The predominance of meconium hydrocele in the male infant may be due to the obliteration of processus vaginalis occuring later than in the female fetus. We report a rare case of bilateral meconium hydrocele in the female newborn, which mimic clinical symptoms and ultrasonographic findings of incarcerated hernia.