• Clinical and Experimental Pediatrics
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• v.48 no.5
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• pp.557-560
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• 2005

Congenital laryngeal atresia is a rare cause of airway obstruction that is almost always lethal within a few minutes after birth. Therefore congenital laryngeal atresia should be diagnosed in the prenatal period. If not, it should be considered in newborn infant with life-threatening symptoms at birth such as cyanosis and dyspnea that need emergent procedures like a tracheotomy. We report a case of congenital laryngeal atresia with single umbilical artery diagnosed in a one-day-old neonate who required a tracheotomy and ventilator care after intubation failure.

• Clinical and Experimental Pediatrics
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• v.56 no.3
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• pp.139-142
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• 2013

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.278-283
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• 2002

Imperforated hymen, vaginal atresia or high transverse vaginal septum are caused by incomplete vaginal canalization. The infant may be present with distention of the vagina and the uterus with glandular secretions stimulated by maternal estrogens, known as hydrometrocolpos. We report two cases of hydrometrocolpos. In the first case, distal vaginal atresia with cystovaginal fistula was revealed by a contrast fluoroscope through the percutaneous catheterization. In the second case, urogenital sinus was detected by a fistulogram through a single orifice in the genital area. We decompressed the cystic mass by ultrasonogram guided aspiration, promptly at birth, then achieved the transient drainage of cystic fluids by percutaneous catheterization.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.8 no.2
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• pp.257-262
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• 2005

Clinical findings in neonates and infants with cholestasis characteristically include prolonged jaundice, acholic stool, pruritus and failure to thrive. We report two cases of cholestasis presenting with spontaneous bleeding due to vitamin K deficiency. Laboratory studies on admission revealed moderate liver dysfunction and a bleeding tendency due to vitamin K deficiency. After administration of vitamin K, the bleeding tendency disappeared. Vitamin K deficiency was resulting from a combination of cholestasis-induced fat malabsorption and low vitamin K supplementation due to breast-milk feeding. Cholestasis should be considered in neonate and infant with a bleeding tendency.

• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.244-247
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• 2010

Spontaneous pneumomediastinum in the absence of predisposing risk factors has been rarely observed in full-term neonates. A 3-day-old neonate, delivered vaginally at term without any perinatal complications or signs of respiratory difficulty, was referred to the Seoul National University Children's Hospital because of reduced heart sound detected during routine neonatal examination. Chest computed tomography (CT) showed air collection in the anterior mediastinum. The baby developed respiratory distress on the fourth day and required supplemental oxygen. On the seventh day, there was no sign of respiratory difficulty, and x-ray examination showed no demonstrable pneumomediastinum. Hence, careful neonatal physical examination is essential during the postnatal assessment of newborns, and spontaneous pneumomediastinum should be considered when a healthy newborn presents with reduced heart sound.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.45-48
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• 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid ${\beta}$-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of $2.25{\mu}mol/L$ (normal, < $0.99{\mu}mol/L$). Urinary excretion of ethylmalonic acid was also elevated, as detected by urine organic acid analysis. To confirm the diagnosis of SCADD, direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Subsequent sequence analysis revealed compound heterozygous missense mutations c.164C>T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

• Pediatric Infection and Vaccine
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• v.27 no.1
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• pp.24-34
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• 2020

The Korean Society of Pediatric Infectious Diseases and the Korea Centers for Disease Control and Prevention issued the guidelines about coronavirus disease 2019 (COVID-19) for children and adolescents. Case definitions and management of COVID-19 in neonates, infants, children and adolescents are presented in this guideline. In addition, guidelines for caregiver management are also provided. In this review, we introduce the contents of the current guidelines for COVID-19 in children and adolescents in Korea.

• Journal of Chest Surgery
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• v.25 no.1
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• pp.32-41
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• 1992

From August 1982 to December 1991, 58 consecutive infants with tetralogy of Fallot underwent primary repair. Age ranged from 22 days to twelve months [n=58, 8.7$\pm$2.7 months] and body weight from 3.1 to 13 kilograms [n=58, 7.8$\pm$1.7 kilograms]. Qne infant had absence of the pulmonary valve; one had Ebstein`s anomaly and one had supramitral ring. Thirty-two patients [56%] experienced anoxic spell. Preoperative pulmonary artery indices were measured in 38 cases, ranging 126-552mm2/M2BSA[n=38, 251$\pm$79mm2/M2BSA]. All infants required a right ventricular outflow tract patch; in 41, the patch extended across the pulmonary valve annulus, in 13 of them, monocusps were constructed. All had patch closure of ventricular septal defect. Two infants had REV operation for avoiding injury to the canal branch of the right coronary artery which cross the right ventricular out flow tract. Post repair PRV/LV were measured at operating room in 40 cases, which revealed mean value of 0.49$\pm$0.12 [range: 0.25-0.74]. The hospital mortality was 10.3% [6 patients], and causes of deaths were right heart failure due to sustained right ventricular hypertension[4] and right ventricular outflow tract obstruction, intractablesuraventricular tachyarrhythmia[1], hypoxia[1] due to residual right to left shunt across the atrial septal defect in patient associated with Ebstein`s anomaly. All infants were doing well at follow-up from 1 to 101 months[20.6 months /patient, 1, 072 patient-month] Serial postoperative echocardiograms revealed no residual ventricular septal defects and estimated RVOT gradients between 0 and 40 mmHg except 3 cases [50, 50, 60 mmHg]. There were no late deaths and late ventricular arrhythmias or congestive heart failure. Redo operations were done in 2 cases because of residual right ventricular outflow tract obstruction. This experience with infants with tetralogy of Fallot suggests that, if mortality is tolerable, eletive repair of tetralogy of Fallot could be reasonably undertaken during the first year of life, and even better results could be anticipated along with improvement of methods of myocardial protection and postoperative care.

• Child Health Nursing Research
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• v.5 no.2
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• pp.198-210
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• 1999

The goal of respiratory management in high risk infants is to maintain proper oxygenation by supporting respiration, therefore to minimize the secondary complications and to promote the maximum growth and development. While on artificial ventilator to achieve this goal, the infants require endotracheal suctioning(ETS) to remove lung secretions. However, the negative effects of ETS in neoates have been documented and include hypoxia, bradycardia, mucosal damage, increased intracranial pressure, and death result. The purpose of the study was to investigate how ETS is currently performed in NICU, which would be beneficial to develop the standardized ETS protocol and to apply it to these population. A national-wide survey on clinical protocol of ETS was performed to 149 neonatal nurses with the average of 3 years and 6 months experience in neonatal nursing, 34.2% of whom was bachelor in nursing. The results showed that about 89% of the nurses initiate En primarily based on the need of the subjects. The aseptic regulation on ETS was used in 83.9% of the subjects. There was no regulation on the length of catheter in 32.9% and on ID/OD ratio in 17.4%. Many nurses administered hyperoygenation/hyperinflation/hyperventilation based on personal knowhow, rather than scientific rationals (77.2%, 40.9%, 75.2%, retrospectively). About 41% of the nurse regulate subjectively the suction power, while 73.8% of them rotate the sub ject's head during suctioning and the half of the nurses was favorable in adapting the closed-suctioning protocol. With the findings of the study, the current clinical application of E% in neonates appears to be based on adult care practices, or personal preference, rather than scientific validation of the safety and effectiveness of the procedure. This study support the needs for developing and applying the standardized ETS protocolin conjunction with the consideration given to the physiologic characteristics of the neonates in respiratory distress.

• Neonatal Medicine
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• v.28 no.3
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• pp.133-138
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• 2021

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.