A Case of Congenital Cutaneous Candidiasis in Very Low Birth Weight Infant with Maternal Chorioamnionitis / 대한피부과학회지

Congenital cutaneous candidiasis (CCC) is a rare disease caused by Candida spp. that occurs within the first six days of life. Its exact pathogenesis remains unclear; however, the suspected pathomechanisms include maternal vulvovaginal candidiasis and ascending infections. A preterm, 1,550-g male infant presented with generalized maculopapules and pustules on his whole body. The patient’s mother had undergone cervical cerclage at a gestational age (GA) of 29 weeks due to an incompetent internal os of the cervix. The pregnancy was terminated at GA 37-week because the mother developed chorioamnionitis. We performed a potassium hydroxide microscopic examination, skin biopsy, and fungal culture test on the baby. Microscopic examination of the skin scrapings revealed pseudohyphae with yeasts, and Candida albicans was identified in the culture test. Maternal placental biopsy revealed fungal organisms, and the baby was diagnosed with CCC due to an ascending infection. The skin lesions completely disappeared after intravenous liposomal amphotericin B treatment.

A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

Blood Culture Proven Early Onset Sepsis and Late Onset Sepsis in Very-Low-Birth-Weight Infants in Korea

Neonatal sepsis remains one of the most important causes of death and co-morbidity in very-low-birth-weight (VLBW) infants. The aim of this study was to determine the current incidences of early-onset sepsis (EOS) and late-onset sepsis (LOS), the distribution of pathogens, and the impact of infection on co-morbidities in VLBW infants. We analyzed the data including sepsis episode from 2,386 VLBW infants enrolled in Korean Neonatal Network from January 2013 to June 2014. We defined EOS as a positive blood culture occurring between birth and 7 days of life and LOS after 7 days of life. Sepsis was found in 21.1% of VLBW infants. The risk of sepsis was inversely related to birth weight and gestational age. EOS was found in only 3.6% of VLBW infants, however the mortality rate was as high as 34.1%. EOS was associated with the increased odds for bronchopulmonary dysplasia and intraventricular hemorrhage. The vast majority of EOS was caused by Gram-positive organisms, particularly coagulase-negative staphylococci (30.6%). LOS developed in 19.4% of VLBW infants with a 16.1% mortality rate. Pathogens in LOS were dominated by coagulase-negative staphylococci (38.3%). Twenty-five percent and fifty percent of first LOS episode occurred after 12 days and 20 days from birth, respectively. Younger and smaller VLBW infants showed the earlier occurrence day for the 25% of first LOS episode. This study provides a recent nationwide epidemiology of sepsis in VLBW infants in Korea. Based on this study, successful strategies to reduce infections would improve survival and reduce morbidity.

The Readmission of Preterm Infants of 30-33 Weeks Gestational Age within 1 Year Following Discharge from Neonatal Intensive Care Unit in Korea

PURPOSE: This study was conducted to evaluate the readmission rate of preterm infants of 30-33 weeks gestational age (GA) within 1 year following discharge from the neonatal intensive care unit (NICU). METHODS: This research was a part of the Retrospective Study to Evaluate Rehospitalization & Health Care Utilization after NICU Discharge in Preterm Infants (< or =33 weeks) II (RHANPI II) project conducted by the Committee on Data Collection and Statistical Analysis of the Korean Society of Neonatology. Enrolled infants (n=1,257) of 46 hospitals from April to September 2012, were retrospectively studied. RESULTS: The average GA and birth weight of the study population was 32(+2)+/-1(+1) weeks and 1,785+/-386 g, respectively. The cumulative readmission rate during the 360 days following discharge from the NICU was 27.3%. The cumulative readmission rate according to GA was 36.4%, 30.1%, 25.9% and 22.7% for infants born at 30, 31, 32 and 33 weeks GA, respectively. The corresponding respiratory readmission rate was 16.3%; this was 59.8% of total readmissions. There was no significant difference in the respiratory readmission rate according to GA group (log-rank test for trend, P-value=0.0558). Of the infants who were readmitted with respiratory problems, 57.0% (n=53/93) tested positive for respiratory syncytial virus (RSV). CONCLUSION: The cumulative readmission rate during the 360 days following discharge from the NICU was 27.3%. Respiratory problems were the most common cause of readmission, and RSV was the most common virus associated with respiratory readmission. Additionally, there was no difference in the rate of respiratory readmission according to GA group.

Therapeutic Hypothermia for Newborns with Hypoxic Ischemic Encephalopathy

Brain injury secondary to hypoxia-ischemia (HI) is one of the major causes of neonatal death and severe, long-term neurologic deficits in children. Aside from hypothermia, no established therapies exist. Although the specific mechanisms of hypothermic neuroprotection remain unclear, in part hypothermia suppresses a broad range of injurious factors involved in the both early or primary and late or secondary phases of cell damage and death during the HI injury. In particular, latent (early recovery) phase-a brief period of normal cerebral energetics between resuscitation/reperfusion and the secondary phase of impaired energy metabolism and injury - represents the effective window of opportunity for initiation of therapeutic hypothermia, and ameliorate the later secondary energetic decline, neuronal death and the subsequent neurodevelopmental disability. Randomized controlled studies and systemic reviews have demonstrated that moderate hypothermia (33-35degrees C of core body temperature) using systemic or whole body cooling and selective head cooling, started within 6 hours after birth and protracted for 72 hours, significantly improves survival and reduces neurologic impairment in term and near-term infants with moderate and severe HI encephalopathy. Throughout the world, therapeutic hypothermia is increasingly recommended and we should have the protocols, equipment and training to treat the newborns with moderate and severe HI encephalopathy with therapeutic hypothermia.

Incontinentia Pigmenti in a Newborn with NEMO Mutation

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.

Optimal oxygen saturation in premature infants / 소아과

There is a delicate balance between too little and too much supplemental oxygen exposure in premature infants. Since underuse and overuse of supplemental oxygen can harm premature infants, oxygen saturation levels must be monitored and kept at less than 95% to prevent reactive oxygen species-related diseases, such as retinopathy of prematurity and bronchopulmonary dysplasia. At the same time, desaturation below 80 to 85% must be avoided to prevent adverse consequences, such as cerebral palsy. It is still unclear what range of oxygen saturation is appropriate for premature infants; however, until the results of further studies are available, a reasonable target for pulse oxygen saturation (SpO2) is 90 to 93% with an intermittent review of the correlation between SpO2 and the partial pressure of arterial oxygen tension (PaO2). Because optimal oxygenation depends on individuals at the bedside making ongoing adjustments, each unit must define an optimal target range and set alarm limits according to their own equipment or conditions. All staff must be aware of these values and adjust the concentration of supplemental oxygen frequently.

Neuroprotection in the Newborn Infant / 대한주산의학회잡지

Brain injury secondary to hypoxia-ischemia is the predominant form of all brain injury encountered in the perinatal period and one of the most commonly recognized causes of severe, long-term neurologic deficits in children. Much progress has been made toward understanding the mechanisms contributing to ongoing brain injury after intrapartum hypoxia ischemia. Multiple pathways of oxidative stress, inflammation, and excitotoxicity lead to both early and late phases of cell damage and death. Therapies targeting these different pathways have shown potential in protecting the brain from ongoing injury. A search for therapies that can prevent injury progression or enhance repair of the immature brain continues and recent evidence suggests that therapies may be combined to enhance the protective and reparative processes, and consideration for the best time to perform these interventions are necessary. In this article, I will focus briefly on the pathogenetic biochemical events leading to neuronal death and then, in particular, the neuroprotective interventions based on these biochemical events.

Intrathyroidal branchial cleft-like cyst in neonate / 소아과

A rare case is described of an intrathyroidal branchial cleft-like cyst in neonate. The patient was a newborn girl with a mass in the left lateral neck. The ultrasonography and computed tomography revealed a cystic lesion in the left thyroid. The lesion was enucleated surgically from the thyroid. Histologically, the cyst was lined by squamous or columnar epithelium and contained inflammatory cell infiltraion, thyroid and parathyroid tissue. The patient has been doing well without any evidence of thyroid dysfunction for 15 months.