In Korea, pulmonary surfactant (PS) replacement therapy in respiratory distress syndrome (RDS) was started in 1991 since when Surfacten(R) was imported from Japan. At the present time, Surfacten(R), Newfactan(R), Curosurf(R), and Infasurf(R) are available in Korea. The governmental health insurance covers the expense for multiple dose treatment since 2002 and the early prophylactic treatment (BW: <1,250 g or GP: <30 wks) since 2011. We undertook a multi-institutional collective study to evaluate the outcomes of PS over past 20 years in Korea (Period-I; 1990/91, P-II; 1996, P-III; 2002, and P-IV; 2007, P-V; 2010). There were 60 RDS neonates with PS treatment in P-I (16 hospitals), 1,179 in P-II (64), 1,595 in P-III (62), 1,921 in P-IV (57), and 3,160 in P-V (72). Decreased mortality rate, defined as the percentage of neonates who died within 28 days of birth, was seen between periods, P-V vs P-I, II, III, and IV (mortality rate: 10.1% vs. 40.0%, 30.0%, 18.7%, and 14.3%). We conclude that PS therapy contributed to improve remarkable outcome in RDS neonates over the last 20 years in Korea. However, more efforts should be made to optimize PS therapy for better outcome. Multiple PS doses for relapse and poor response, early prophylactic use, and better supportive care for pre-term infants are mandatory.
Humans ; Infant ; Infant, Newborn ; Insurance, Health ; Japan ; Korea ; Parturition ; Pulmonary Surfactants ; Recurrence

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives from the shadow created by the anomalous pulmonary vein on chest X-ray that closely resembles that of a curved Turkish sword. It rarely presents as an isolated abnormality. Various cardiac and non-cardiac anomalies have been association with SS, such as right lung hypoplasia, dextroposition of the heart, hypoplasia of the right pulmonary artery, systemic arterial blood supply to the right lower lung from the infra-diaphragmatic aorta, and a secundum type of atrial septal defect. However, an imperforate anus has not been reported previously in association with SS. We describe the first case of infantile scimitar syndrome accompanied with an imperforate anus in a newborn who presented with tachypnea and right pulmonary atelectasis.
Anus, Imperforate ; Aorta ; Drainage ; Heart ; Heart Septal Defects, Atrial ; Humans ; Infant, Newborn ; Lung ; Pulmonary Artery ; Pulmonary Atelectasis ; Pulmonary Veins ; Scimitar Syndrome ; Tachypnea ; Thorax ; Vena Cava, Inferior

Brain abscesses in neonates are extremely rare and usually occur in patients with certain risk factors. A 1-month-old boy presented at the hospital with fever and irritability. As a result of preterm delivery and low birth weight, he had a history of admission to the neonatal intensive care unit. Neuroimaging revealed a large, space-occupying lesion in both frontal lobes, which was suspected to be an abscess with the midline shifting to the right. With a single aspiration and abscess drainage along with concurrent prolonged parenteral antibiotic therapy, the patient showed an excellent treatment outcome with normal development. The focus will be placed on minimally invasive surgical management as well as positive outcomes.
Abscess ; Bacterial Infections ; Biopsy, Fine-Needle ; Brain ; Brain Abscess ; Drainage ; Enterobacter cloacae ; Fever ; Frontal Lobe ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Intensive Care, Neonatal ; Neuroimaging ; Risk Factors ; Treatment Outcome

Sick sinus syndrome (SSS) is a disorder characterized by sinus node dysfunction. Although the condition is most common in the elderly, it can occur in children including neonates and its recognition and treatment are important. The diagnosis of SSS is based on the presence of sinus bradycardia, sinus arrest or exit block, combinations of sinoatrial and atrioventricular nodal conduction disturbances, and atrial tachyarrhythmias documented in the Holter recordings. In most children with SSS, previous history of congenital heart malformation or cardiac surgery is noted. SSS is also seen in the children including neonates without heart disease or other contributing factors, however SSS is most often idiopathic. The treatment of SSS depends on the basic rhythm problem, but generally involves the placement of a cardiac pacemaker. We report a case of SSS in extremely low birth weight infant without congenital heart disease and suggest that the treatment system is necessary for preterm infants with SSS.
Aged ; Arrhythmias, Cardiac ; Bradycardia ; Child ; Heart ; Heart Diseases ; Humans ; Infant ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Infant, Premature ; Pancreas ; Pancreatic Diseases ; Premature Birth ; Sick Sinus Syndrome ; Tachycardia ; Thoracic Surgery

Neonatal lupus erythematosus (NLE) is a rare disease characterized by typical clinical features and the transplacental passage of maternal autoantibodies, particularly anti-SSA/Ro. The major clinical manifestations are cutaneous lupus lesions, congenital heart block, hematological disorders, and hepatobiliary diseases. We report a case of NLE presenting with multiple round and oval target-like erythematous skin lesions and abnormal liver function, born to a clinically asymptomatic mother whose diagnosis was made retrospectively only after her newborn's diagnosis. Both the infant and the mother were positive for the anti-SSA/Ro and anti-SSB/La antibodies.
Antibodies ; Autoantibodies ; Heart Block ; Humans ; Infant ; Liver ; Lupus Erythematosus, Systemic ; Mothers ; Rare Diseases ; Retrospective Studies ; Skin

Spontaneous neonatal esophageal perforation (EP) is a rare condition. However, iatrogenic EP due to a feeding tube is not uncommon, particularly in premature infants. Iatrogenic EP can result in serious complications, such as a pneumothorax, and can be fatal. Usually a pneumothorax develops as a result of EP. However, we experienced an EP in a patient with a pneumothorax. The EP occurred after inserting a feeding tube while the patient was suffering from a pneumothorax. Thus care is needed when inserting the feeding tube in a patient with a pneumothorax.
Complex Mixtures ; Esophageal Perforation ; Humans ; Infant, Newborn ; Infant, Premature ; Pneumothorax ; Stress, Psychological

Acrodermatitis enteropathica due to zinc deficiency is characterized by periorificial dermatitis, alopecia, and intractable diarrhea. Here we report a case of transient acrodermatitis enteropathica in a 2-month-old preterm infant, whose skin is erythematous, scaly, eczematous, with an eruption starting from the periorificial area. While her serum zinc level was normal at 118.2 ug/dL, the serum alkaline phosphatase level was low at 48 IU/L and the serum alkaline phosphatase level get increased concordant with clinical improvement after zinc supplementation. Hence, this case shows that the diagnosis of zinc deficiency can be aided with a low level of serum alkaline phoaphatase although serum zinc level is normal.
Acrodermatitis ; Alkaline Phosphatase ; Alopecia ; Dermatitis ; Diarrhea ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Skin ; Zinc

Spontaneous intraperitoneal extravasation of urine is rare. Perirenal urinoma may develop when obstruction to urinary flow creates sufficient back pressure to produce extravasation of urine. Urinary ascites most commonly indicate a disruption to the integrity of the urinary tract. We report a case of urinary ascites with urinoma resulting from an ureteropelvic junction obstruction in a neonate.
Ascites ; Humans ; Infant, Newborn ; Ureteral Obstruction ; Urinary Tract ; Urinoma

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.
Genetic Association Studies ; Heart Diseases ; Humans ; Infant, Newborn ; Korea ; Noonan Syndrome ; Parturition

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.
Calcium-Binding Proteins ; Cholestasis, Intrahepatic ; Citrulline ; Citrullinemia ; DNA ; Galactose ; Heterozygote ; Humans ; Hyperammonemia ; Infant ; Infant, Newborn ; Mass Screening ; Organic Anion Transporters ; Plasma ; Tandem Mass Spectrometry