Expert opinion on evidence after 2020 Korean Cardiopulmonary Resuscitation Guidelines

Considerable evidence has been published since the 2020 Korean Cardiopulmonary Resuscitation Guidelines were reported. The International Liaison Committee on Resuscitation (ILCOR) also publishes the Consensus on CPR and Emergency Cardiovascular Care Science with Treatment Recommendations (CoSTR) summary annually. This review provides expert opinions by reviewing the recent evidence on CPR and ILCOR treatment recommendations. The authors reviewed the CoSTR summary published by ILCOR in 2021 and 2022. PICO (population, intervention, comparator, outcome) questions for each topic were reviewed using a systemic or scoping review methodology. Two experts were appointed for each question and reviewed the topic independently. Topics suggested by the reviewers for revision or additional description of the guidelines were discussed at a consensus conference. Forty-three questions were reviewed, including 15 on basic life support, seven on advanced life support, two on pediatric life support, 11 on neonatal life support, six on education and teams, one on first aid, and one related to coronavirus disease 2019 (COVID-19). Finally, the current Korean CPR Guideline was maintained for 28 questions, and expert opinions were suggested for 15 questions.

Survey on the Status of Breastfeeding in Korean Medical Institution Workers

Background@#Human breast milk is essential and provides irreplaceable nutrients for early humans. However, breastfeeding is not easy for various reasons in medical institution environments. Therefore, in order to improve the breastfeeding environment, we investigated the difficult reality of breastfeeding through questionnaire responses from medical institution workers. @*Methods@#A survey was conducted among 179 medical institution workers with experience in childbirth within the last five years. The survey results of 175 people were analyzed, with incoherent answers excluded. @*Results@#Of the 175 people surveyed, a total of 108 people (61.7%) worked during the day, and 33 people (18.9%) worked in three shifts. Among 133 mothers who stayed with their babies in the same nursing room, 111 (93.3%) kept breastfeeding for more than a month, but among those who stayed apart, only 10 (71.4%) continued breastfeeding for more than a month (P = 0.024). Ninety-five (88.0%) of daytime workers, 32 (94.1%) two-shift workers, and 33 (100%) three-shift workers continued breastfeeding for more than a month (P = 0.026). Workers in general hospitals tended to breastfeed for significantly longer than those that worked in tertiary hospitals (P = 0.003). A difference was also noted between occupation categories (P = 0.019), but a more significant difference was found in the comparison between nurses and doctors (P = 0.012). Longer breastfeeding periods were noted when mothers worked three shifts (P = 0.037). Depending on the period planned for breastfeeding prior to childbirth, the actual breastfeeding maintenance period after birth showed a significant difference (P = 0.002). Of 112 mothers who responded to the question regarding difficulties in breastfeeding after returning to work, 87 (77.7%) mentioned a lack of time caused by being busy at work, 82 (73.2%) mentioned the need for places and appropriate circumstances. @*Conclusion@#In medical institutions, it is recommended that environmental improvements in medical institutions, the implementation of supporting policies, and the provision of specialized education on breastfeeding are necessary to promote breastfeeding.

Neurodevelopmental Outcomes of Moderate-to-Late Preterm Infants

Purpose@#Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to 36 weeks’ gestation). The Korean Developmental Screening Test (K-DST) for infants and children is a recently designed screening test for Korean infants and children. The current study aimed to evaluate the neurodevelopmental outcomes of MLPT infants and investigate the risk factors associated with neurodevelopmental delay. @*Methods@#A total of 119 MLPT infants admitted to a neonatal intensive care unit (NICU) of a tertiary hospital in Korea were enrolled. The infants were assessed during two follow-up periods (first: 16 to 24 months of corrected age; second: 24 to 41 months of corrected age). The perinatal factors in the NICU that were associated with delayed development were analyzed. @*Results@#In all sections of the K-DST, the proportion of infants with developmental delay was higher in the second period (5.6% to 9.3%) than in the first period (0.9% to 5.4%). A total of 10% to 17% of the infants presented with persistent delay throughout the two periods based on five sections of the K-DST. Male sex, oxygen therapy duration, and younger maternal age were the risk factors affecting at least one section during the second period. @*Conclusion@#MLPT infants showed greater developmental delay than the general infant population. Considering that early intervention is important for good longterm outcomes, close observation of male MLPT infants and MLPT infants who received oxygen therapy is warranted.

Neurodevelopmental Correlations between the Korean Developmental Screening Test and Bayley Scale III in Very-Low-Birth-Weight Infants

Purpose@#We aimed to analyze the correlations between the Bayley Scales of Infant Development (BSID)-III and Korean Developmental Screening Test (K-DST) in very-low-birth-weight (VLBW; birth weight <1,500 g) preterm infants. @*Methods@#We enrolled 53 VLBW infants (mean gestational age, 28.9±2.11 weeks; mean birth weight, 1,158.5±241.1 g) and assessed them using the BSID-III and K-DST at a corrected age of 18 to 24 months. We analyzed the correlations between the BSID-III and K-DST subdomains and evaluated whether the estimated developmental levels were consistent with the corrected ages. @*Results@#In the BSID-III, the composite scores for cognition, motor, and language were 105.9±13.1 (median, 105; 66th percentile; 95% confidence interval [CI], 98 to 113), 100.9±12.4 (100; 50th percentile; 95% CI, 92 to 108), and 94.9±16.8 (97.5; 34th percentile; 95% CI, 87 to 102), respectively. The scaled scores for receptive/expressive language and gross/fine motor were 9.9±2.9 (10.5)/8.2±2.7 (8) and 9.6±2.4 (9)/10.6 ±2.3 (10), respectively. In the K-DST, the mean scores of cognition (17.8±4.7 [18.5]), language (16.6±7.2 [20]), fine motor (19.4±3.4 [20]), gross motor (19.9±3.8 [21]), sociality (18.6±4.7 [20]), and self-control (17.3±5.1 [18]) were within the range of normal developmental status. Among the overlapping subdomains, cognition (r=0.58, P= 0.003) and language (r=0.86, P<0.001), but not fine and gross motor status (r=0.05, P= 0.79; r=0.16, P=0.44, respectively), showed significant correlation between the BSID-III and K-DST. @*Conclusion@#The language and cognition domains of the K-DST were significantly correlated with the BSID-III in preterm VLBW infants. Clinicians should consider these discrepancies and correlations when evaluating the developmental status of preterm VLBW infants.

Acute Fetomaternal Hemorrhage Confirmed by Maternal Alfa-Fetoprotein in Monochorionic Diamniotic Neonates under 1,500 g

Fetomaternal hemorrhage (FMH) is due to the entry of fetal blood into the maternal circulation. Although very rare, FMH complicates pregnancies, presents with severe symptoms, and leads to fetal death. Majority of FMH cases are idiopathic and difficult to diagnose. The known used diagnostic tests are Kleihauer-Betke Test (KBT) and flow cytometry, which can detect fetal hemoglobin in the maternal blood. However, such methods have limited use because of low sensitivity, labor-intensive and error-susceptible procedures, poor reproducibility, and tendency to overestimate the FMH volume. Other tests include high performance liquid chromatography (HPLC) and alpha-fetoprotein (AFP) tests, which can be as favorable to confirm FMH as KBT. However, in case of acute FMH, the diagnostic results of KBT, flow cytometry, and HPLC may be false negative. AFP test is a noninvasive, fast, easily assessable, adjuvant, and confirmatory diagnostic test. Published Korean articles show confirmed FMH by KBT or HPLC in singleton late-preterm and term neonates. Herein, we report a case of monochorionic diamniotic twin neonates (birth weight <1,500 g) who presented borderline fetal hemoglobin level because of acute FMH and were diagnosed with FMH by maternal AFP. Our experience of diagnosing FMH rapidly by AFP test will be very helpful to clinicians for the prevention and treatment of FMH during pregnancy.

Neurodevelopmental Outcomes of Moderate-to-Late Preterm Infants

Purpose@#Preterm infants are known to be at a risk of neurodevelopmental delay; however, limited data are available on the outcomes of moderate-to-late preterm (MLPT) infants (born at 32 to 36 weeks’ gestation). The Korean Developmental Screening Test (K-DST) for infants and children is a recently designed screening test for Korean infants and children. The current study aimed to evaluate the neurodevelopmental outcomes of MLPT infants and investigate the risk factors associated with neurodevelopmental delay. @*Methods@#A total of 119 MLPT infants admitted to a neonatal intensive care unit (NICU) of a tertiary hospital in Korea were enrolled. The infants were assessed during two follow-up periods (first: 16 to 24 months of corrected age; second: 24 to 41 months of corrected age). The perinatal factors in the NICU that were associated with delayed development were analyzed. @*Results@#In all sections of the K-DST, the proportion of infants with developmental delay was higher in the second period (5.6% to 9.3%) than in the first period (0.9% to 5.4%). A total of 10% to 17% of the infants presented with persistent delay throughout the two periods based on five sections of the K-DST. Male sex, oxygen therapy duration, and younger maternal age were the risk factors affecting at least one section during the second period. @*Conclusion@#MLPT infants showed greater developmental delay than the general infant population. Considering that early intervention is important for good longterm outcomes, close observation of male MLPT infants and MLPT infants who received oxygen therapy is warranted.

Neurodevelopmental Correlations between the Korean Developmental Screening Test and Bayley Scale III in Very-Low-Birth-Weight Infants

Purpose@#We aimed to analyze the correlations between the Bayley Scales of Infant Development (BSID)-III and Korean Developmental Screening Test (K-DST) in very-low-birth-weight (VLBW; birth weight <1,500 g) preterm infants. @*Methods@#We enrolled 53 VLBW infants (mean gestational age, 28.9±2.11 weeks; mean birth weight, 1,158.5±241.1 g) and assessed them using the BSID-III and K-DST at a corrected age of 18 to 24 months. We analyzed the correlations between the BSID-III and K-DST subdomains and evaluated whether the estimated developmental levels were consistent with the corrected ages. @*Results@#In the BSID-III, the composite scores for cognition, motor, and language were 105.9±13.1 (median, 105; 66th percentile; 95% confidence interval [CI], 98 to 113), 100.9±12.4 (100; 50th percentile; 95% CI, 92 to 108), and 94.9±16.8 (97.5; 34th percentile; 95% CI, 87 to 102), respectively. The scaled scores for receptive/expressive language and gross/fine motor were 9.9±2.9 (10.5)/8.2±2.7 (8) and 9.6±2.4 (9)/10.6 ±2.3 (10), respectively. In the K-DST, the mean scores of cognition (17.8±4.7 [18.5]), language (16.6±7.2 [20]), fine motor (19.4±3.4 [20]), gross motor (19.9±3.8 [21]), sociality (18.6±4.7 [20]), and self-control (17.3±5.1 [18]) were within the range of normal developmental status. Among the overlapping subdomains, cognition (r=0.58, P= 0.003) and language (r=0.86, P<0.001), but not fine and gross motor status (r=0.05, P= 0.79; r=0.16, P=0.44, respectively), showed significant correlation between the BSID-III and K-DST. @*Conclusion@#The language and cognition domains of the K-DST were significantly correlated with the BSID-III in preterm VLBW infants. Clinicians should consider these discrepancies and correlations when evaluating the developmental status of preterm VLBW infants.

Acute Fetomaternal Hemorrhage Confirmed by Maternal Alfa-Fetoprotein in Monochorionic Diamniotic Neonates under 1,500 g

Fetomaternal hemorrhage (FMH) is due to the entry of fetal blood into the maternal circulation. Although very rare, FMH complicates pregnancies, presents with severe symptoms, and leads to fetal death. Majority of FMH cases are idiopathic and difficult to diagnose. The known used diagnostic tests are Kleihauer-Betke Test (KBT) and flow cytometry, which can detect fetal hemoglobin in the maternal blood. However, such methods have limited use because of low sensitivity, labor-intensive and error-susceptible procedures, poor reproducibility, and tendency to overestimate the FMH volume. Other tests include high performance liquid chromatography (HPLC) and alpha-fetoprotein (AFP) tests, which can be as favorable to confirm FMH as KBT. However, in case of acute FMH, the diagnostic results of KBT, flow cytometry, and HPLC may be false negative. AFP test is a noninvasive, fast, easily assessable, adjuvant, and confirmatory diagnostic test. Published Korean articles show confirmed FMH by KBT or HPLC in singleton late-preterm and term neonates. Herein, we report a case of monochorionic diamniotic twin neonates (birth weight <1,500 g) who presented borderline fetal hemoglobin level because of acute FMH and were diagnosed with FMH by maternal AFP. Our experience of diagnosing FMH rapidly by AFP test will be very helpful to clinicians for the prevention and treatment of FMH during pregnancy.

Risk Factors for Brain Damage in Preterm Infants After Late-Onset Circulatory Collapse Events

PURPOSE: This study aimed to identify risk factors for brain damage in infants with late-onset circulatory collapse (LCC), a circulatory failure that responds to glucocorticoid therapy. METHODS: We retrospectively reviewed 167 infants (gestational age < 35 weeks) who had hypotension between April 2009 and March 2017 at Boramae Medical Center. Forty infants were diagnosed with LCC and divided into two groups based on ultrasonography and magnetic resonance imaging findings: infants with periventricular leukomalacia (n=9) and those with normal images (n=31) after LCC. The clinical factors of these two groups, including perinatal characteristics, clinical features during the LCC period, and neonatal morbidities, were compared. RESULTS: There were no significant differences in perinatal characteristics and postnatal morbidities between the two groups. Postnatal age was greater in the group with brain damage (16 days vs. 24 days, P=0.047). The lowest mean blood pressure (MBP) and lowest serum sodium concentration were significantly lower in the brain damage group (19 mm Hg vs. 22 mm Hg, P=0.034; 125 mmol/L vs. 129 mmol/L, P=0.043). There were no significant differences in other clinical factors, including cortisol levels, and inotrope and hydrocortisone use. In multivariate logistic regression, older postnatal age (odds ratio [OR], 1.147; P=0.049), lower MBP (OR, 0.616; P=0.031), and lower sodium concentration (OR, 0.728; P=0.037) during the LCC period highly predicted brain damage in infants with LCC (area under the curve 0.882, P=0.001). CONCLUSION: Close monitoring of LCC signs even in long-term stable preterm infants and management for preventing severe hyponatremia and hypotension are important to minimize the occurrence of brain damage in infants with LCC.

The Effect of Maternal Pre-pregnancy Body Mass Index on Very Low Birth Weight Infants

PURPOSE: The pre-pregnancy body mass index (BMI) is associated with adverse neonatal outcomes. However, studies on very low birth weight (VLBW) infants are rare. This study aimed to investigate the effect of maternal pre-pregnancy BMI on VLBW infants. METHODS: This retrospective study evaluated singleton VLBW infants born at the CHA Gangnam Medical Center from 2006 to 2016. The neonates were classified into three groups according to the maternal pre-pregnancy BMI: underweight ( < 18.5 kg/m2), normal weight (≥18.5 to < 23 kg/m2), and overweight or obese (≥23 kg/m2). Clinical characteristics and morbidities of mothers and infants were analyzed. RESULTS: A total of 181 infants belonging to underweight (16.6%), normal weight (58.6%), and overweight or obese (24.8%) groups were enrolled. The pre-pregnancy BMI had a significant negative correlation with gestational age (r=−0.198, P=0.001) and a significant positive correlation with the z-score of the birth weight (r=0.078, P=0.001) and body length (r=0.067, P=0.008). The number of extremely preterm infants was significantly higher in the overweight or obese group. The proportion of risk of small for gestational age infants was higher in the underweight group (adjusted odds ratio [OR], 2.958; 95% confidence interval [CI], 1.113 to 7.864), whereas that of infants with severe retinopathy of prematurity was higher in the overweight or obese group (adjusted OR, 9.546; 95% CI, 1.230 to 74.109). CONCLUSION: In our population of VLBW infants, the pre-pregnancy BMI was associated with gestational age, intrauterine growth, and adverse neonatal outcomes. Therefore, proper weight control before pregnancy is important.

Treatment of Auricular Deformities with the EarWell System in Three Newborns

Auricular deformities occur frequently in newborn infants. Typically, most pediatricians explain to parents that these deformities will get better as child grows older. But, only about 30% of auricular deformities are known to be self-correcting, and there is no reliable model to predict them. If ear molding is initiated during the first days of life with the EarWell System, successful treatment could be possible without pain in a non-surgical way. We present 3 cases of auricular deformities treated with the EarWell System. 2 infants were born with auricular deformities at Gangnam Cha Medical Center and 1 infant visited the outpatient clinic for the treatment of auricular deformities. 5 ears in 3 infants underwent ear molding using the EarWell System. They had it placed on the 20th day after birth. Average treatment time was 18.7 days, and all of them were corrected. Complications were redness, oozing, erosion and mild pressure ulcerations. Early recognition and treatment of the auricular deformity ensure the great prospect of success. Also, it is important for both the parents and the pediatricians to know that auricular deformities could be successfully treated with Earwell System.

Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea

Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Molecular analysis revealed a missense mutation at nucleotide 3217 (c.3217G>A) in exon 26 of the fibrillin-1 (FBN1) gene, resulting in the substitution of a glutamate for a lysine at codon 1073 (E1073K) in the 12th calcium binding epidermal growth factor-like domain of the FBN1 protein. Here we report a rare case of Nmfs with several combined atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS.

A Case of Fetal Cholelithiasis Related to Maternal Intrahepatic Cholestasis of Pregnancy

Despite the improved accuracy and increasing use of prenatal ultrasonography, fetal cholelithiasis is a rarely detected disease, and its natural history and clinical significance are not yet well defined. Many maternal and neonatal risk factors are associated with fetal cholelithiasis. Intrahepatic cholestasis of pregnancy could be a risk factor for fetal cholelithiasis, but no case reports in previous literatures have demonstrated this relationship. We present a case of fetal cholelithiasis in the late third trimester of pregnancy that was related to intrahepatic cholestasis of pregnancy, along with a brief review of associated literatures.

Prognosis and Predictive Factors according to Extent of Involvement in Necrotizing Enterocolitis among Very Low Birth Weight Infants

PURPOSE: This study aimed to evaluate the prognosis of necrotizing enterocolitis (NEC) according to the extent of involvement, among very low birth weight infants. Furthermore, the predictive factors for extent of involvement were evaluated. METHODS: Medical records of all newborns with surgically treated NEC admitted to the neonatal intensive care unit of Seoul National University Children's Hospital between 2005 and 2013 were reviewed. Infants were grouped according to the extent of involvement of NEC: isolated segment involvement (ISI, n=31) and multi-segment involvement (MSI, n=17). We evaluated the clinical characteristics, outcomes, and pre-operative factors according to symptoms, laboratory and radiologic findings. RESULTS: The incidence of small for gestational age was significantly higher in the MSI than ISI group (12.9% vs. 41.2%, P=0.036). The length of resected bowel was significantly longer (1.7 cm vs. 8 cm, P=0.010), and the incidence of short bowel syndrome (SBS) (0% vs. 23.1%, P=0.023) and mortality (3.2% vs. 23.5%, P=0.047) were significantly higher in the MSI than ISI group. However, there was no significant difference between the two groups in terms of high-output stoma, time of full enteral feeding, extrauterine growth retardation, changes of z-score of body weight between admission and discharge and reoperation. Portal vein gas detected by ultrasonography was the only statistically significant predictive factor of extent of involvement (odds ratio=13.237, P=0.029). CONCLUSION: SBS and mortality were higher in MSI NEC compared to ISI NEC. However, there was no difference in the time of full enteral feeding and growth between the two groups. Portal vein gas detected by ultrasonography maybe a predictive factor of extent of NEC.

Comparison of Enteral Feeding in Early Neonatal Period in Very Low Birthweight Infants with Hypothyroidism / 대한주산의학회잡지

PURPOSE: We investigated the effects of hypothyroidism on feeding advancement in very low birth weight infants (VLBW). METHODS: This study was a retrospective case-control study of 14 very low birth weight infants (VLBWIs) diagnosed with hypothyroidism and other 14 infants were recruited as age- and weight-matched controls without hypothyroidism or hypothyroxinemia in Seoul National University Children's Hospital between January 2007 and August 2009. We examined whether these infants gained weight more, achieved full-volume enteral feedings sooner, had fewer episodes of increased pre-gavage residuals, and had fewer days of parenteral nutrition. RESULTS: Until full enteral feeding (120 mL/kg/day) was not statistically significant between the groups. In the hypothyroidism group, during the first 14 days after birth, the volume of feeding was smaller [14.7 (0.5-84.0) mL/kg/day, P=0.041], the episodes of increased pre-gavage residuals were frequently observed [16.7 (0.2-78) times, P=0.036], and the duration of central line was significantly longer [18 (10-50) days, P=0.018]. In hypothyroidism group, mean day at first L-thyroxine supplementation was 24.2+/-10.2 days after birth. L-thyroxine administration boosted thyroid function for hypothyroidism infants, helped them tolerate a larger amount of enteral feeding [from 89.5 (2.9-160.8) to 146.9 (31.8-178.8) mL/kg/day, P=0.002] and decreased episodes of excessive gastric residuals [from 5.5 (0-41.6) to 0 (0-44) time, P=0.026]. However, no more weight gain was statistically found. CONCLUSION: In VLBW infants, hypothyroidism may induce feeding intolerance. L-thyroxine supplementation was effective in feeding advancement on preterm infants with hypothyroidism.

Timing of Liberation from Ventilation Assistance and Decannulation in Preterm Infants with Bronchopulmonary Dysplasia after Tracheostomy

PURPOSE: We aimed to evaluate the clinical outcomes of preterm infants with bronchopulmonary dysplasia after tracheostomy. METHODS: We retrospectively examined 24 preterm infants with bronchopulmonary dysplasia who were admitted to the neonatal intensive care unit of Seoul National University Hospital and treated with tracheostomy between January 1999 and December 2013. We collected data on the age at tracheostomy, indication for the tracheostomy, and the long-term outcomes. RESULTS: Of the admitted patients, 1.0% were treated with tracheostomy, and the median age at tracheostomy was 185 days. Fifteen patients (62.5%) were weaned from mechanical ventilation. Of these, 56.5% patients were weaned from positive pressure ventilation (PPV) within 24 months, and 81.3% were weaned from PPV within 60 months. The median time from the tracheostomy procedure to independent PPV was 15.9 months. Decannulation was achieved in 8 patients (33.3%); of these, 41.5% were decannulated within 24 months, and 69.9% were decannulated within 60 months. The median time from the tracheostomy procedure to decannulation was 48.8 months. In patients without airway disease, the time from the tracheostomy procedure to independent PPV and decannulation was 15.6 months. In patients with airway disease, the time from the tracheostomy procedure to independent PPV and decannulation was found to be extended. However, the presence of airway disease was not significantly associated with the duration of mechanical ventilation, or with the time to decannulation. The 5-year survival rate was 80.2%; the patients who did not survive died within 12 months of the tracheostomy procedure. CONCLUSION: Infants with moderate or severe bronchopulmonary dysplasia occasionally require tracheostomy tube placement for mechanical ventilation. In cases with airway disease, the time from the tracheostomy procedure to independent PPV and decannulation tended to be increased, although this increase was not significant.

Neonatal Mortality and Morbidity of Twin-Twin Transfusion Syndrome

PURPOSE: This study was aimed to evaluate the neonatal mortality and morbidity of infants affected by twin-twin transfusion syndrome (TTTS) compared to the control twins matched for gestational age. Also the perinatal outcomes of donor parts of TTTS twins with their counterpart recipients were compared. METHODS: A retrospective case-control study was conducted from infants born at Seoul National University Children's Hospital and Seoul National University Bundang Hospital between April 2005 and July 2011. Eighteen pairs of TTTS infants were allocated to the TTTS group. The control group consisted of 36 pairs of twin infants unaffected by TTTS who were matched for gestational age. Neonatal deaths and morbidities were recorded. RESULTS: The mortality in TTTS group was significantly higher than control group (27.8% vs. 4.2%, P=0.001). The incidence of acute renal failure (41.2% vs. 9.7%, P or =2 intraventricular hemorrhage (33.3% vs. 11.1%, P=0.012) and grade > or =2 periventricular leukomalacia (24.2% vs. 2.8%, P=0.001) were significantly higher in TTTS group than control group. There was no significant difference in mortality and morbidities between donors and recipients except significantly higher incidence of acute renal failure in donors (70.6% vs. 11.8%, P=0.001). CONCLUSION: Twin infants affected by TTTS have higher risk of neonatal death and several severe morbidities. These results indicate that alert monitoring and checking about possible morbidities are very important in newborns with TTTS and early intervention is critical for improving the overall outcome of the affected infants.

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth / 소아과

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37(+1) weeks of gestation with a birth weight of 1,690 g (T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.

A case of Bartter syndrome type I with atypical presentations / 소아과

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the SLC12A1 gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on SLC12A1 (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation.