Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet the energy requirements of various organs. MELAS poses a diagnostic challenge owing to its multiple organ involvement and great clinical variability due to its heteroplasmic nature. We report three cases from a family who were initially misdiagnosed with myasthenia gravis or undiagnosed. Although there is no optimal consensus treatment approach for patients with MELAS because of the disease's heterogeneity, our 21-year-long therapy regimen of l-arginine, l-carnitine, and coenzyme Q10 supplementation combined with dietary management appeared to provide noticeable protection from the symptoms and complications. Prompt early diagnosis is important, as optimal multidisciplinary management and early intervention may improve outcomes.
Acidosis, Lactic ; Arginine ; Carnitine ; Consensus ; DNA, Mitochondrial ; Early Diagnosis ; Early Intervention (Education) ; Follow-Up Studies ; Humans ; MELAS Syndrome ; Mitochondrial Diseases ; Myasthenia Gravis ; Population Characteristics

PURPOSE: The purpose of this study is to describe the rate of cytomegalovirus (CMV) virolactia, and the prevalence of breast milk (BM)-transmitted postnatal CMV infection among premature infants after freeze-thawing (FT) and Holder pasteurization (HP) of breast milk. METHODS: This is a single-center, retrospective study of 312 infants born at less than 32 weeks of gestation, or with a birth weight less than 1,500 g from January 2013 to June 2017. All infants were screened for CMV-specific immunoglobulin (Ig) G and IgM at birth. Initial CMV specific polymerase chain reaction (PCR) and CMV culture were performed on mothers' BM and babies' urine within the first 21 days of life. FT and HP of BM was used to prevent the transmission of CMV. For the surveillance of postnatal CMV infection, CMV culture and CMV specific PCR of urine from babies were repeated one to two months after the initial screening. Screening for viremia and viruria was performed if postnatal CMV infection was suspected. RESULTS: Among 178 BM samples obtained from mothers of CMV-IgG-seropositive infants, 80 (44.9%) were CMV PCR positive. CMV deoxyribonucleic acid (DNA) was detected in five of the 22 BM samples (22.7%) obtained from the mothers of CMV-IgG seronegative infants. When CMV DNA load in BM was measured before and after HP, various results were shown. Sixty-three infants out of 232 (27.2%) were evaluated for postnatal CMV infection and four infants out of 63 (6.3%) were infected. CONCLUSION: Interventions to prevent BM-transmitted CMV infection can reduce the chance of postnatal CMV infection, but not completely eliminate it.
Birth Weight ; Breast* ; Cytomegalovirus Infections* ; Cytomegalovirus* ; DNA ; Humans ; Immunoglobulin M ; Immunoglobulins ; Infant ; Infant, Newborn ; Infant, Premature* ; Mass Screening ; Milk, Human ; Mothers ; Parturition ; Pasteurization ; Polymerase Chain Reaction ; Pregnancy ; Prevalence ; Retrospective Studies ; Viremia

PURPOSE: To identify the effects of modified parenteral nutrition (PN) and enteral nutrition (EN) regimens on the growth of very low birth weight (VLBW) infants. METHODS: The study included VLBW infants weighing <1,500 g, admitted to Chungnam National University Hospital between October 2010 and April 2014, who were alive at the time of discharge. Subjects were divided according to 3 periods: period 1 (n=37); prior to the PN and EN regimen being modified, period 2 (n=50); following the PN-only regimen modification, period 3 (n=37); following both PN and EN regimen modification. The modified PN regimen provided 3 g/kg/day of protein and 1 g/kg/day of lipid on the first day of life. The modified EN regimen provided 3.5-4.5 g/kg/day of protein and 150 kcal/kg/day of energy. We investigated growth rate, anthropometric measurements at 40 weeks postconceptional age (PCA) and the incidence of extrauterine growth restriction (EUGR) at 40 weeks PCA. RESULTS: Across the 3 periods, clinical characteristics, including gestational age, anthropometric measurements at birth, multiple births, sex, Apgar score, surfactant use and PDA treatment, were similar. Growth rates for weight and height, from time of full enteral feeding to 40 weeks PCA, were higher in period 3. Anthropometric measurements at 40 weeks PCA were greatest in period 3. Incidence of weight, height and head circumference EUGR at 40 weeks PCA decreased in period 3. CONCLUSION: Beginning PN earlier, with a greater supply of protein and energy during PN and EN, is advantageous for postnatal growth in VLBW infants.
Apgar Score ; Chungcheongnam-do ; Enteral Nutrition ; Gestational Age ; Head ; Humans ; Incidence ; Infant* ; Infant, Very Low Birth Weight* ; Multiple Birth Offspring ; Parenteral Nutrition ; Parturition ; Passive Cutaneous Anaphylaxis

Neonatal hydrocolpos is a rare condition that involves fluid accumulation in the vagina. On diagnostic imaging, the dilated vagina, along with the compressed uterus, can simulate a mature cystic teratoma with a mural nodule. Herein, we report the case of a newborn girl with congenital hydrocolpos that was caused by an imperforate hymen; the hydrocolpos mimicking a mature cystic teratoma on abdominal ultrasonography and magnetic resonance imaging. Any newborn girl with a pelvic cystic mass should be suspected as having a congenital vaginal obstruction manifesting as hydrocolpos or hydrometrocolpos. Thorough examination of the external genitalia, as well as imaging of the uterus and vagina, enables correct diagnosis and optimal treatment.
Diagnosis ; Diagnostic Imaging ; Female ; Genitalia ; Humans ; Hydrocolpos* ; Hymen ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Pelvis* ; Teratoma* ; Ultrasonography ; Uterus ; Vagina

PURPOSE: We evaluated the brain magnetic resonance imaging (MRI) findings and significance in newborns with severe hyperbilirubinemia. METHODS: This study included 60 newborns with severe hyperbilirubinemia at the neonatal intensive care unit (NICU) of the Chungnam National University Hospital from January 2006 to April 2011. The patients were grouped according to with or without high signal intensities in the globus pallidus (GP) on T1-weighted MRI. We compared the clinical characteristics and neurodevelopmental outcomes between the groups. RESULTS: Thirty-seven of the 60 newborns (62%) showed symmetric high signal intensities in the GP on T1-weighted MRI or intracranial hemorrhage. The group that had high signal intensities in the GP on T1-weighted MRI showed a higher tendency of hemolysis, anemia and exchange transfusion. Demographic characteristics and neurodevelopmental outcomes were similar between the groups. CONCLUSION: We suggest that the GP involvement in severe hyperbilirubinemia of newborn is described as high signal intensities on T1-weighted MRI in the early stage but this lesion is a transient phenomenon that have relatively good long-term prognosis.
Anemia ; Brain ; Globus Pallidus ; Hemolysis ; Humans ; Hyperbilirubinemia ; Infant ; Infant, Newborn ; Intensive Care, Neonatal ; Intracranial Hemorrhages ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Prognosis

PURPOSE: To determine the effect of changing practice guidelines designed to avoid hyperoxia or hypoxia in very low birth weight or very preterm infants. METHODS: We analyzed a database of <1,500 g birth weight or <32 weeks of gestation infants who were born and admitted to the neonatal intensive care unit of Chungnam National University Hospital from January 2007 to July 2010. First, we defined the relationship between arterial partial pressure of oxygen (PaO2) and pulse oxygen saturation (SpO2). When we evaluated 96 pairs of PaO2 and SpO2 measurements, oxygen saturation was 90-94% at a PaO2 of 43-79 mmHg on the oxyhemoglobin dissociation curve, according to pulse oximetry. Based on this observation, a change in practice was instituted in August 2008 with the objective of avoiding hypoxia and hyperoxia in preterm infants with targeting a SpO2 90-94% (period II). Before the change in practice, high alarms for SpO2 were set at 100% and low alarms at 95% (period I). RESULTS: Sixty-eight infants the met enrollment criteria and 38 (56%) were born during period II, after the change in SpO2 targets. Demographic characteristics, except gender, were similar between the infants born in both periods. After correcting for the effect of confounding factors, the rates for mortality, severe retinopathy of prematurity, and IVH attended to be lower than those for infants in period II. No difference in the rate of patent ductus arteriosus needed to treat was observed. CONCLUSION: A change in the practice guidelines aimed at avoiding low oxygen saturation and hyperoxia did not increase neonatal complication rates and showed promising results, suggesting decreased mortality and improvements in short term morbidity. It is still unclear what range of oxygen saturation is appropriate for very preterm infants but the more careful saturation targeting guideline should be considered to prevent hypoxemic events and hyperoxia.
Anoxia ; Birth Weight ; Blood Gas Analysis ; Dissociative Disorders ; Ductus Arteriosus, Patent ; Humans ; Hyperoxia ; Infant ; Infant, Newborn ; Infant, Premature ; Infant, Very Low Birth Weight ; Intensive Care, Neonatal ; Oximetry ; Oxygen ; Oxyhemoglobins ; Partial Pressure ; Pregnancy ; Retinopathy of Prematurity

Dieulafoy's lesion is defined as a small mucosal defect overlying an abnormal, large caliber submucosal artery that protrudes through the gastrointestinal mucosa. This lesion is a rare cause of massive upper gastrointestinal bleeding in the pediatric population and extremely rare in neonates. We report a 1-day-old neonate who presented with massive gastrointestinal bleeding caused by a gastric Dieulafoy lesion, which was successfully treated by endoscopic hemoclipping without any complications.
Arteries ; Hemorrhage ; Humans ; Infant, Newborn ; Mucous Membrane

OBJECTIVE: This study was aimed to analyze the effect of Insulin-like growth factor (IGF)-I and Insulin-like growth factor binding protein (IGFBP)-3 on early catch-up growth in small for gestational age (SGA) infants. METHODS: We prospectively studied in 18 SGA infants who were admitted at Chungnam National University Hospital from January 2004 to January 2006. We divided them into two groups of intrauterine growth retardation; symmetric and asymmetric type. Maternal and neonatal characteristics and the value of IGF-1 and IGFBP-3 at birth were compared between the two groups. After 12 months later, we checked their body weight and height to evaluate catch-up growth. RESULTS: Among 18 SGA infants, 5 were male and 13 were female. Average gestational age at birth was 38.4+/-1.1 weeks. Average birth weight was 2,359+/-154 g. Nine babies showed symmetric intrauterine growth retardation. Thirteen babies achieved catch-up growth at 12 month of age. There was no correlation between the characteristics of SGA and catch-up growth. However, the IGF-I and IGFBP-3 values were significantly higher in babies who showed catch-up growth. CONCLUSION: We were able to predict catch-up growth at early infancy by evaluating serum IGF-I and IGFBP-3 values at birth in SGA infants.
Birth Weight ; Body Weight ; Carrier Proteins ; Female ; Fetal Growth Retardation ; Gestational Age ; Humans ; Infant ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Male ; Parturition ; Prospective Studies

PURPOSE: Premature narrowing of the foramen ovale is rare but serious clinical entity. Prenatal narrowing or obstruction of the foramen ovale shows symptoms such as right heart failure, fetal hydrops, triscupid regurgitation, left heart obstructive disease, and supraventricular tachycardia. This study aimed to assess the prenatal diagnosis and postnatal clinical course of restrictive foramen ovale in utero in otherwise normal heart. METHODS: The subjects were five patients diagnosed with restrictive foramen ovale in utero from January 2001 to June 2005 at Chungnam National University Hospital. The diagnostic criteria was defined when the maximum diameter in a 4-chamber view is less than 2.5 mm and there is a continuous doppler velocity at the foramen ovale of more than 0.6m/s. RESULTS: At the time of diagnosis of restrictive foramen ovale, gestation age was 34~37 wks, and chief complaints were fetal arrhythmia(2 cases), pericardial effusion, Ebstein anomaly and subaortic stenosis. Two cases which were diagnosed fetal hydrops and supraventricular tachycardia delivered by emergent cesarian section. Five cases were found to have right heart dilatation on echocardiogram after birth, but right heart dilatation became normalized at day 7 after birth and the clinical courses were not eventful. CONCLUSION: Identifying an obstructed foramen ovale in the fetus warrants the further search for additional cardiac and extracardiac anomalies, which may alter the prognosis. Delivery should be induced if possible in cases of foramen ovale obstruction with signs of cardiac decompensation.
Chungcheongnam-do ; Constriction, Pathologic ; Diagnosis ; Dilatation ; Ebstein Anomaly ; Fetal Heart ; Fetus ; Foramen Ovale* ; Heart Failure ; Heart* ; Humans ; Hydrops Fetalis ; Parturition ; Pericardial Effusion ; Pregnancy ; Prenatal Diagnosis* ; Prognosis ; Tachycardia, Supraventricular ; Ultrasonography, Prenatal

Gardnerella vaginalis is a normal component of the vaginal flora and is one of the organisms associated with bacterial vaginosis. It is rarely involved in neonatal infection. Although it is possible that G. vaginalis plays an etiologic role in bacteremia, facial cellulitis and abscess, conjunctivitis, infected cephalhematoma, scalp abscess, respiratory disease and meningitis in newborns, G. vaginalis is an uncommon pathogen of neonatal sepsis and meningitis. We report a 3,830 g term neonate with sepsis and meningitis due to G. vaginalis and review the characteristics of neonatal G. vaginalis infection reported in the literatures.
Abscess ; Bacteremia ; Cellulitis ; Conjunctivitis ; Gardnerella vaginalis* ; Gardnerella* ; Humans ; Infant, Newborn ; Meningitis* ; Scalp ; Sepsis* ; Vaginosis, Bacterial