• Journal of The Korean Society of Inherited Metabolic disease
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• v.2 no.1
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• pp.15-19
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• 2002

Disorders resulting from defects in peroxisomal biogenesis include Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. The three diseases are now considered as a continuum of clinical features. Neonatal adrenoleukodystrophy is intermediate between Zellweger syndrome and infantile Refsum disease in severity, and is characterized by profound hypotonia, intractable seizures and premature death. We report a cases of neonatal adrenoleukodystrophy presenting with neonatal seizure and hypotonia. At the age of 43 months, she had clinical evidence of adrenal insufficiency with skin hyperpigmentation and electrolyte imbalance. She was diagnosed having neonatal adrenoleukodystrophy based on abnormally high levels of plasma very long-chain fatty acids, pipecolic acid and phytanic acid.

• Advances in pediatric surgery
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• v.1 no.2
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• pp.186-189
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• 1995

Neonatal intestinal perforation is mainly caused by necrotizing enterocolitis, intestinal atresia, meconium ileus or unknown etiology. Occasionally, Hirschsprung's disease presents with neonatal intestinal perforation, of which, it is known that total colonic aganglionosis is common. Therefore, Hirschsprung's disease should be considered as a cause of neonatal intestinal perforation. The authors have experienced 3 cases of neonatal Hirschsprung's disease associated with colonic perforations. Cecal perforations were noted in 2 cases with aganglionosis from descending colon and sigmoid perforation in a case with aganglionosis in rectum. These cases will be discussed with literature review.

• Pediatric Infection and Vaccine
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• v.19 no.2
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• pp.43-54
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• 2012

Group B streptococcus (GBS) is the leading cause of neonatal sepsis and meningitis in developed countries. This article reviews the neonatal invasive GBS disease, maternal GBS colonization, and prevention strategies in the context of recent epidemiological changes in Korea. Although Korean neonates had been supposed to have low incidence of invasive GBS disease, GBS has been recently reported to be the most common cause of invasive neonatal infection after 1990s. Among Korean pregnant women, GBS carriage rate in the vagina and rectum has been reported to be much lower than that in Western countries. However, it has increased in recent studies. For decision making about preventive strategy for neonatal GBS disease in Korea, further studies are required in terms of the incidence of neonatal GBS infection and serotype distribution. In addition, studies about maternal carriage rate and serotype distribution have to be continued.

• Clinical and Experimental Pediatrics
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• v.60 no.11
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• pp.344-352
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• 2017

Arrhythmias in the neonatal period are not uncommon, and may occur in neonates with a normal heart or in those with structural heart disease. Neonatal arrhythmias are classified as either benign or nonbenign. Benign arrhythmias include sinus arrhythmia, premature atrial contraction, premature ventricular contraction, and junctional rhythm; these arrhythmias have no clinical significance and do not need therapy. Supraventricular tachycardia, ventricular tachycardia, atrioventricular conduction abnormalities, and genetic arrhythmia such as congenital long-QT syndrome are classified as nonbenign arrhythmias. Although most neonatal arrhythmias are asymptomatic and rarely life-threatening, the prognosis depends on the early recognition and proper management of the condition in some serious cases. Precise diagnosis with risk stratification of patients with nonbenign neonatal arrhythmia is needed to reduce morbidity and mortality. In this article, I review the current understanding of the common clinical presentation, etiology, natural history, and management of neonatal arrhythmias in the absence of an underlying congenital heart disease.

• Journal of Chest Surgery
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• v.28 no.12
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• pp.1132-1138
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• 1995

From 1991 to 1994, we experienced 24 cases of neonatal pneumothorax who were admitted to the Neonatal Intensive Care Unit[NICU , Chosun University Hospital. The Following results were obtained.1 The incidence of neonatal pneumothorax was 0.70%, and there were 8 spontaneous pneumothoraces and 16 secondary pneumothoraces. 2 The clinical manifestation of neonatal pneumothorax was as followed. Male infant was dominant[M:F=2:1 , the onset was within 24 hours in the majority[83% , and the right side[62% was more frequent than the left side. The gestation duration and birth weight show no correlation with underlying neonatal pneumothorax. The pulmonary diseases were meconium aspiration syndrome and hyaline membrane disease, and the incidence of those was 58%. Meconium aspiration syndrome occurred earlier than hyaline membrane disease. Symptoms and signs were tachypnea[46% , cyanosis[21% , irritability[13% , chest retraction[8% and apnea[8% .3 The treatments performed were oxygen therapy[17% , thoracentesis[4% and closed thoracostomy with underwater seal drainage[79% . The Mean duration of air leakage was 11.7 hours, and the mean drainage time was 4.35$\pm$1.3day. 4 The overall hospital mortality was 33%, and the rate of complication was 46%. The complications were metabolic acidosis, atelectasis, pleural effusion, pulmonary hemorrhage and pneumonia. We concluded that the prognosis was related to the underlying pulmonary disease.

• Journal of Korean Public Health Nursing
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• v.2 no.2
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• pp.81-98
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• 1988

The purpose of this study was to fine out the general physical status of the neonates, and to identify the risk factors of the mothers and the neonates which were significantly related to the neonatal diseases during hospitalization. The data were obtained from clinical records of 1098 neonates born in Seoul Red cross Hospital between January 1st of 1984 and December 31th of 1986. The results of this study were summarized as follows: 1. General characteristics of the maternal group. 1) The average of maternal age was 26.6 years, the $91.7\%$ of the mothers de liveried at the age of 20-34 years old. 2) The distribution of the types of delivey were as follows : spontaneous delivery $39.9\%$, cesarean section $32.4\%$, vaccum extraction $25.7\%$, and breech delivery$2.0\%$. 3) The $40.3\%$ of the total de liveried mother had experienced abortion. 4) The $42.3\%$ of the total deliveried mother had one or more obstetric risk factors. 2. General characteristics of the neonatal group. 1) In the distribution of sex, male was $49.4\%$, female $50.6\%$. 2) The average of birth weights was 3,020gm. The distribution of birth weight were as follows; nomal weight $85.5\%$, low birth weight $12.7\%$ and high birth weight $2.5\%$. 3) The average of gestational age was 39.2 weeks. The distribution of gestational age were as follows; full term $77.4\%$, preterm $13.7\%$, and postterm $8.9\%$. 4) The average of Apgar Score was 9.0 at one minute and 9.6 at five minutes. 5) The $5.7\%$ of the neonates had one or more neonatal risk symptoms and signs at birth. 3. Apgar Score by the maternal and neonatal factors. In Apgar Score at one minute, normal group was higher than that of abnormal group. Apgar Score at five minutes was slightly higher than that at one minute. 4. The distribution of the maternal risk factors and the neonatal risk factors. 1) The total numbers of the maternal risk factors were 1376. The distribution of the maternal risk factors were as follows: obstetric factor $33.7\%$, abortion $32.2\%$, breech and cesarean section delivery $27.5\%$ and maternal age under 19 years and over 35 years $6.6\%$. 2) The total numbers of the neonatal risk factors were 517. The distribution of the neonatal risk factors were as follows: gestational age under 37 weeks and over 42 weeks $48.0\%$, birth weight under 2500gm and over 4000gm $12.2\%$, Apgar score under 4 at one munute $6.4\%$ and Apgar score at five munutes $2.7\%$. 3) The total numbers of the obstetric risk factors were 661. The types of the obstetric risk factors were meconium stained amniotic fluid $22.0\%$, premature rupture of membrane $17.5\%$. absence prenatal care $14.1\%$, unmarried pregnancy $10.3\%$, placenta problem $9.0\%$, toxemia $8.0\%$. 4) The total numbers of the neonatal risk symptoms and signs at birth were 83. The types of the neonatal risk symptoms and signs were respiratory distress $65.1\%$, neonatal apnea $14.4\%$, convulsion $13.3%$, meconium aspiration syndrome $4.8\%$, cyanosis $2.4\%$. 5. The relationship between the maternal risk factors and the neonatal risk factors. 1) Maternal age under 19 years or over 35 years was significantly related to Apgar Score under 4 at 5 minutes. 2) Breech delivery or cesarean section was significantly related to neonatal risk factor at birth such as birth weight, gestational age, Apgar Score at one minute and at five minutes. and neonatal risk symptoms and signs. 3) Obstetric risk factors were significantly related to the neonatal risk factors at birth. 4) Abortion was not related to the neonatal risk factors. 6. The relationship between neonatal diseases during hosptalization and the maternal or the neonatal risk factors. 1) The total numbers of neonatal diseases during hospitalization were 281. The distribution of neonatal diseases were as follows: birth trauma $38.1\%$, infectious disease $31.3\%$, hematologic disease $21.4\%$, respiratory disease $6.0\%$, neurologic disease $2.5\%$. cardiovascular disease $0.7\%$. 3) Most maternal risk factors except abortion were significantly related to neonatal diseases. 4) Most neonatal risk factors at birth were significantly related to neonatal diseases.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.113-116
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• 2013

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.

• Neonatal Medicine
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• v.28 no.3
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• pp.139-142
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• 2021

Macrophage activation syndrome (MAS) is a potentially life-threatening complication in many autoimmune diseases. Early recognition and intervention are essential for a favorable outcome. Neonatal lupus, an acquired autoimmune disease in neonates caused by the transplacental passage of maternal autoantibodies, is rare and usually self-limited. Herein, we report a case of MAS in a patient with neonatal lupus, which improved with intravenous immunoglobulin.

• Neonatal Medicine
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• v.25 no.4
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• pp.137-143
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• 2018

Purpose: This study was performed to determine the clinical features of full-term infants with hypoxemia detected by pulse oximetry and to establish the diagnosis of critical congenital heart disease (CCHD). Methods: We retrospectively reviewed the medical records of neonates who had been admitted to the neonatal intensive care unit within 2 weeks of birth at Korea University Ansan Hospital between January 2013 and October 2017 (n=450). We classified these neonates based on the presence of hypoxemia at admission and investigated neonatal characteristics, initial symptoms, echocardiographic findings, and final diagnosis associated with hypoxemic diseases. Results: Of 450 term infants, 265 infants (58.9%) were identified hypoxemia by pulse oximetry at admission. The most common symptoms of them were cyanosis and tachypnea. Among them, 80.1% of infants (214/265) were diagnosed with respiratory tract disease and 8.3% of infants (22/265) had congenital heart disease. Thirteen infants (13/265, 4.9%) had CCHD and were treated with urgent surgery or transcatheter intervention within 28 days of birth. Majority of infants with respiratory tract disorder were transferred from hospital immediately after birth, but 46.1% of infants (6/13) with CCHD remained asymptomatic after birth and were admitted after 48 hours after birth. In addition, other hypoxemic illnesses were identified as neonatal infectious and neurological diseases. Conclusion: This study showed the importance of assessment in neonates with hypoxemia, including those diagnosed with CCHD. The possibility of CCHD should be considered in the differential diagnosis in neonates demonstrating hypoxemia after 48 hours of birth. A larger prospective study is needed to assess the effectiveness and outcomes of pulse oximetry for neonatal screening in Korea.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.559-563
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• 2008

The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of the prevalence of metabolic diseases is very important with these results, the most effective screening methods can be determined and diseases can be identified that should be added to neonatal screening. For these purposes regular follow-up of patients with metabolic diseases and quality assuarance are also needed.