• Neonatal Medicine
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• v.28 no.1
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• pp.41-47
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• 2021

Neonatal diabetes mellitus can be categorized as transient, permanent, or syndromic, and approximately half of the cases are transient. We present a case involving a term newborn who showed overt progression of transient neonatal diabetes mellitus, with complete remission within 6 months. On the second day of life, the patient presented with tachypnea, hyperglycemia, and decreased serum levels of C-peptide and insulin. Continuous subcutaneous infusion of insulin and continuous glucose monitoring were well tolerated. The patient showed a normal growth pattern, with no hyperglycemic or hypoglycemic episodes at 6 months of age. As it is rare and often asymptomatic, hyperglycemia may be attributed to various factors, including intrauterine environment, perinatal stress, and diverse genetic background. Therefore, consistent blood glucose monitoring and prompt early insulin therapy are crucial for any term newborns with persistent hyperglycemia, to prevent further diabetic complications. Moreover, continuous subcutaneous insulin infusion and the utilization of continuous glucose monitoring devices are the most effective and practical management strategies.

• Clinical and Experimental Pediatrics
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• v.55 no.11
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• pp.438-444
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• 2012

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 (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of ${\beta}$-D-hexosaminidase and ${\alpha}$-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>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.

• Neonatal Medicine
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• v.18 no.2
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• pp.370-373
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• 2011

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.

• Clinical and Experimental Pediatrics
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• v.61 no.10
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• pp.322-326
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• 2018

Purpose: The EDIN scale (${\acute{E}}chelle$ Douleur Inconfort Nouveau-$N{\acute{e}}$, neonatal pain and discomfort scale) and heart rate variability has been used for the evaluation of prolonged pain. The aim of our study was to assess the value of the newborn infant parasympathetic evaluation (NIPE) index and EDIN scale for the evaluation of prolonged pain in preterm infants with chest tube placement due to pneumothorax. Methods: This prospective observational study assessed prolonged pain in preterm infants with a gestational age between 33 and 35 weeks undergoing installation of chest tubes. Prolonged pain was assessed using the EDIN scale and NIPE index. Results: There was a significant correlation between the EDIN scale and NIPE index (r=-0.590, P=0.003). Prolonged pain is significantly more severe in the first 6 hours following chest tube installation (NIPE index: 60 [50-86] vs. 68 [45-89], P<0.002; EDIN score: 8 [7-11] vs. 6 [4-8], P<0.001). Conclusion: Prolonged pain can be accurately assessed with the EDIN scale and NIPE index. However, evaluation with the EDIN scale is time-consuming. The NIPE index can provide instantaneous assessment of prolonged and continuous pain.

• Journal of Korean Academy of Nursing
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• v.35 no.5
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• pp.798-809
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• 2005

Purpose: This study was performed to investigate the quantities of three neo-maternal exposures; visiting frequency, auditory contact and physical contact, and to examine the relationship between the quantities of each exposure and maternal attachment, maternal self-esteem and postpartum depression in 40 mothers of NICU babies during the first week in the NICU. Method: Each neo-maternal exposure was counted at every mother's visit to the newborn and maternal attachment, maternal self-esteem and postpartum depression were measured using the maternal attachment inventory, the maternal self-report inventory and Edinburgh Postpartum Depression Scale (EPDS) on the first and seventh day in the NICU. Result: The Mean of each neo-maternal exposure was 8.77(2.81) for the visiting frequency, 5.82(3.66) for the auditory contact and 5.60(2.89) for the physical contact during 7 days in the NICU. No significant changes were found in the scores of maternal attachment, maternal self-esteem and postpartum depression between the first and the seventh day in the NICU. The quantities of neo-maternal exposures were positively related to the scores of maternal attachment and maternal self-esteem but not related to postpartum depression. Conclusion: The results of the study suggest the lack of early neo-maternal exposure in cases of NICU hospitalization negate its beneficial effects on maternal psychological well-being in increasing maternal attachment and self-esteem. More efforts are neededfor the neo-maternal interaction and the reevaluation of NICU visitation hours in order to promote maternal-infant interaction.

• Archives of Plastic Surgery
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• v.34 no.4
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

• Neonatal Medicine
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• v.15 no.1
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• pp.105-110
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• 2008

Neonatal liver abscesses are rare, carry a high mortality rate, and are difficult to diagnose. The diagnosis of liver abscesses in the neonate cannot be established from the clinical presentation alone. Risk factors for liver abscesses in neonates are maternal infection, sepsis, umbilical venous catheterization, omphalitis, and necrotizing enterocolitis. In this report, we describe a preterm infant (32 weeks, 1,580 g) who presented with abdominal distension, respiratory difficulties, and a persistent inflammatory response in spite of broad spectrum antibiotic treatment; a large (6${\times}$5 cm) solitary pyogenic liver abscess was identified at 9 days of age. It appeared that the liver abscess had originated in the uterus and umbilical venous catheterization facilitated its spread. Percutaneous drainage under abdominal ultrasound guidance was performed and prolonged antibiotics were treated for 5 weeks, effecting a cure.

• Neonatal Medicine
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• v.18 no.2
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• pp.391-394
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• 2011

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.

• Neonatal Medicine
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• v.25 no.2
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• pp.66-71
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• 2018

Purpose: Respiratory morbidity is the most common problem among neonates admitted to neonatal intensive care units. Therefore, the aim of this study was to make a differential diagnosis between transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), and pneumonia through comparison of clinical features and test results. Methods: This retrospective study was conducted in 86 infants with TTN, RDS, or pneumonia. These were infants who had respiratory distress, were born after ${\geq}34$ weeks of gestation, and transferred to the neonatal intensive care unit of Kosin University Gospel Hospital between June 1, 2011 and June 30, 2016. Results: The numbers (percentage) of infants with TTN, RDS, and pneumonia were 51 (59.3%), 20 (23.3%), and 15 (17.4%), respectively. Late-preterm and early-term newborns accounted for 65.1% of the infants. Tachypnea was observed in 74.4% of the neonates. The median age at admission was 4 hours (0 to 116) after birth. The infants with RDS had significantly lower birth weights, pH levels, base excess and oxygen saturation levels at admission, longer duration of total ventilator therapy, and hospital stay than those in the other two groups. The infants with pneumonia showed significantly high initial high-sensitivity C-reactive protein levels and significant chest radiographic findings. Conclusion: Early differential diagnosis for TTN, RDS, and pneumonia is challenging because they show similar respiratory symptoms at an early stage. Clinical features and test results can be used to determine the etiology of respiratory distress and early antibiotic treatment.

• Clinical and Experimental Pediatrics
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• v.49 no.6
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• pp.686-690
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• 2006

Cardiac tamponade with pleural and pericardial effusion is a rare but life-threatening complication of umbilical venous catheterization in the newborn. It requires a timely diagnosis and urgent treatment, such as pericardiocentesis, to save lives of affected patients. Recently, we experienced a 7 day-old, very low birth weight infant, who developed a cardiac tamponade with pleural and pericardial effusions complicated by umbilical venous catheterization. The patient was successfully treated with pleural and pericardial drainages. Here, we report this case with a review of literature, since there has been no such previous case reported in Korea.