Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

A Case of Midgut Volvulus with Gastric Perforation and Periveintricular Leukomalacia in a Term Infant

Intestinal malrotation with midgut volvulus (MV) is a life-threatening surgical emergency. Most events of MV occur in the neonatal period with bilious vomiting, abdominal distension, feeding intolerance, and bloody stools. Neonatal gastric perforation (GP) is a rare and life-threatening condition associated with high mortality. It occurs either in an idiopathic form or in association with gastrointestinal anomalies such as duodenal atresia and MV. The pathogenesis of both MV and GP is related to ischemic change and inflammatory response. MV and GP can lead to morbidities such as sepsis, intestinal ischemia, and organ failure, but not neurologic problems. We herein report the case of a term infant at 5 days after birth, with MV accompanied by GP, who developed periventricular leukomalacia.

Case of Mental Retardation Associated with Aplasia Cutis Congenita and Skull Defect

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

A Case of Midgut Volvulus with Gastric Perforation and Periveintricular Leukomalacia in a Term Infant

Intestinal malrotation with midgut volvulus (MV) is a life-threatening surgical emergency. Most events of MV occur in the neonatal period with bilious vomiting, abdominal distension, feeding intolerance, and bloody stools. Neonatal gastric perforation (GP) is a rare and life-threatening condition associated with high mortality. It occurs either in an idiopathic form or in association with gastrointestinal anomalies such as duodenal atresia and MV. The pathogenesis of both MV and GP is related to ischemic change and inflammatory response. MV and GP can lead to morbidities such as sepsis, intestinal ischemia, and organ failure, but not neurologic problems. We herein report the case of a term infant at 5 days after birth, with MV accompanied by GP, who developed periventricular leukomalacia.

The Risk Factors of Periventricular Leukomalacia among Very Low Birth Weight Infants

Purpose@#Periventricular leukomalacia (PVL) is an important morbidity in preterm infants. Its reported prevalence in very low birth weight (VLBW) infants is 3% to 15% in VLBW infants. PVL develop seizure disorder, intellectual disability, visual problem, and cerebral palsy. This study was done to describe the risk factors of PVL in VLBW infants. @*Methods@#Medical records of 172 VLBW infants at Inje University Ilsan Paik Hospital neonatal intensive care unit were reviewed retrospectively from January 2010 to December 2014. Patients were divided into the non­PVL group (n=155) and the PVL group (n=17). The PVL group included both cystic and non­cystic forms. Demographic findings and factors associated with PVL were compared between these groups. @*Results@#The incidence of non­cystic and cystic PVL was 9.8%. The mean gestational age was significantly lower in the PVL group. The mean birth weight was not significantly different between the groups. The incidences of premature rupture of membrane and pregnancy induced hypertension were not significantly different between the two groups. The number of histologic chorioamnionitis was significantly higher in the PVL group (P<0.05). Other conditions such as respiratory distress syndrome, patent ductus arteriosus, early­onset sepsis, and hypotension were not significantly different between the two groups. The incidence of intravascular hemorrhage (IVH) (grade ≥3) was more significant in the PVL group (P<0.05). Multiple logistic regression analysis indicated that histologic chorioamnionitis (odds ratio [OR], 6.3; 95% confidence interval [CI], 1.1 to 36.3) and IVH (grade ≥3) (OR, 16.9; 95% CI, 1.9 to 153.1) were significant risk factors of PVL. @*Conclusion@#Histologic chorioamnionitis and IVH (grade ≥3) increase the risk of PVL in VLBW infants. Strategies to prevent these conditions could attenuate the incidence of PVL.

National Registry Data from Korean Neonatal Network: Two-Year Outcomes of Korean Very Low Birth Weight Infants Born in 2013–2014

BACKGROUND: The aim of this study was to observe long-term outcomes of very low birth weight infants (VLBWIs) born between 2013 and 2014 in Korea, especially focusing on neurodevelopmental outcomes. METHODS: The data were collected from Korean Neonatal Network (KNN) registry from 43 and 54 participating units in 2013 and 2014, respectively. A standardized electronic case report form containing 30 items related to long-term follow up was used after data validation. RESULTS: Of 2,660 VLBWI, the mean gestational age and birth weight were 291/7 ± 26/7 weeks and 1,093 ± 268 g in 2013 and 292/7 ± 26/7 weeks and 1,125 ± 261 g in 2014, respectively. The post-discharge mortality rate was 1.2%–1.5%. Weight < 50th percentile was 46.5% in 2013 and 66.1% in 2014. The overall prevalence of cerebral palsy among the follow up infants was 6.2% in 2013 and 6.6% in 2014. The Bayley Scales of Infant Developmental Outcomes version II showed 14%–25% of infants had developmental delay and 3%–8% of infants in Bayley version III. For the Korean developmental screening test for infants and children, the area “Further evaluation needed” was 5%–12%. Blindness in both eyes was reported to be 0.2%–0.3%. For hearing impairment, 0.8%–1.9% showed bilateral hearing loss. Almost 50% were readmitted to hospital with respiratory illness as a leading cause. CONCLUSION: The overall prevalence of long-term outcomes was not largely different among the VLBWI born between 2013 and 2014. This study is the first large national data study of long-term outcomes.

Rotavirus-Induced Neonatal Seizures with Cerebral White Matter Abnormalities on Magnetic Resonance Imaging: A Case Report

Rotavirus is a major cause of acute gastroenteritis in infancy and early childhood. Febrile seizures can occur in some infants or children exhibiting rotavirus gastroenteritis even without severe electrolyte imbalance, hypoglycemia or abnormal cerebrospinal fluid (CSF) finding. Some reports have described diffuse cerebral white matter lesions on diffusion-weighted magnetic resonance imaging (DW-MRI) in neonates with rotavirus-associated encephalopathy/encephalitis. In this case study, a 6-day-old male neonate was transferred to the neonatal intensive care unit after having a fever lasting 24 hours. On hospital day two, the seventh day after birth, the patient had his first seizure. The pregnancy and delivery were uneventful. The lab findings, including a CSF exam, were normal, but a stool antigen test for rotavirus was positive. The electroencephalography (EEG) examination result was normal. DW-MRI of the brain showed bilateral symmetric diffusion restriction in the genu and splenium of the corpus callosum as well as in the periventricular white matter of the lateral ventricles. Multiple scattered high-signal-intensit foci on T1-weighted image/fluid-attenuated inversion recovery (FLAIR) in the periventricular white matter were also seen bilaterally. He is now 17 months old, and there were no further seizures. He did not show any neurodevelopmental delay. This case reports that the patient with rotavirus-induced neonatal seizures with cerebral white matter abnormalities on magnetic resonance imaging (MRI) showed a normal neurodevelopmental outcome on the follow-up.

The Incidence, Treatment and Risk Factors of Candidiasis in Very Low Birth Weight Infants

PURPOSE: Candidiasis is an important morbidity among very low birth weight infants (VLBWI). There is a little data on the risk factors in VLBWI. This study was done to describe the incidence, treatment, and risk factors of candidiasis in VLBWI. METHODS: From September 2008 to December 2011, medical records of 130 infants with VLBWI in Inje University Ilsan Paik hospital neonatal intensive care unit (NICU) were reviewed retrospectively. Seventeen infants were diagnosed with candidiasis and treated with antifungal agent. Patients were divided into the candidiasis group (CAN, n=17), the bacterial sepsis group (BAC, n=34), and the non-sepsis group (Non-SEP, n=74). Demographic findings and factors associated with candidiasis were compared between these groups. RESULTS: The mean gestational age was significantly low in the CAN group, but birth weight was not significantly different between the groups. The maternal demographic findings were not significantly different between the groups. The incidence of respiratory distress syndrome (RDS) is higher in the CAN group compared to these groups (P<0.05). The durations of intubation and central venous line were significantly longer in the CAN group than in the other groups (P<0.05). In the logistic regression analysis, the duration of central venous line is the significant factor for candidiasis (P=0.003, odd ratio: 1.56, 95% confidence interval: 1.39-1.68). CONCLUSION: The incidence of candidiasis in VLBWI was 13.1 % and the risk factor for candidiasis was longer duration of central venous line in our study.

Retinopathy of Prematurity among Very-Low-Birth-Weight Infants in Korea: Incidence, Treatment, and Risk Factors

This study was conducted to describe the incidence, risk factors, and current treatment status of retinopathy of prematurity (ROP) in very-low-birth-weight (VLBW) infants registered in the Korean Neonatal Network database. Medical records of 2,009 VLBW infants born between January 2013 and June 2014 who underwent examination by an ophthalmologist were reviewed. The total incidence of ROP was 34.1%. Of the patients, 11.6% showed ROP stage > or = 3 and 11.5% received treatment of VLBW. Among all infants who received treatment of ROP, 63.6% underwent operation only; 16.9%, anti-vascular endothelial growth factor (anti-VEGF) treatment only; and 19.5%, both operation and anti-VEGF treatment. The mean gestational age (GA) and birth weight (BW) were significantly lower and the prevalence rates of respiratory distress syndrome, patent ductus arteriosus (PDA), invasive ventilator duration, and sepsis were significantly higher in the VLBW infants with ROP than in those without ROP. In the multivariable logistic regression analysis, PDA (odd ratio [OR], 2.1; 95% confidence interval [CI], 1.11-3.79) and invasive ventilator duration (OR, 1.0; 95% CI, 1.00-1.02) were significant risk factors of ROP and ROP stage > or = 3. In conclusion, the high incidence of ROP is associated with low GA and BW, and attempt to reduce the aforementioned risk factors could reduce the incidence of ROP stage > or = 3 in VLBW infants.

Effect of Prophylactic Palivizumab on Admission Due to Respiratory Syncytial Virus Infection in Former Very Low Birth Weight Infants with Bronchopulmonary Dysplasia

The aim of this study was to observe the effects of prophylactic palivizumab on hospitalization secondary to respiratory syncytial virus (RSV) infection (RSVhospitalization) in former very low birth weight infants (VLBWI) with bronchopulmonary dysplasia (BPD). This study also sought to identify the risk factors of RSVhospitalizationin this particular infant population. A prospective observational study was conducted between September 2007 and April 2008 in seven Korean hospitals. Children with a history of very low birth weight, a diagnosis of BPD and who were <2 yr old at the onset of the RSV season were included in this study. Palivizumab injections were administered monthly for a maximum of five months during the RSV season. RSVhospitalization rates were reviewed, and RSVhospitalization rates between subgroups were categorized by gestational age, birth weight, and duration of ventilator care. A total of 90 subjects completed the follow-up interviews. The mean gestational age at birth was 26.1+/-1.7 weeks, and the mean birth weight was 889.4+/-222.2 g. The incidence of RSVhospitalization in the study population was 8.9% (8/90), and the mean hospital stay was 11.0+/-5.5 days, including one death. There were no statistically significant differences in the patients' demographic characteristics or risk factors for RSV hospitalization. When subgroup analyses were conducted, there were still no statistically significant differences. The administration of palivizumab prophylaxis during the entire RSV season is important in VLBWI with BPD, regardless of their gestational age and birth weight, or previous ventilator dependency.

Use of in vivo magnetic resonance spectroscopy for studying metabolic diseases

Owing to the worldwide obesity epidemic and the sedentary lifestyle in industrialized countries, the number of people with metabolic diseases is explosively increasing. Magnetic resonance spectroscopy (MRS), which is fundamentally similar to magnetic resonance imaging, can detect metabolic changes in vivo noninvasively. With its noninvasive nature, 1H, 13C and 31P MRS are being actively utilized in clinical and biomedical metabolic studies to detect lipids and important metabolites without ionizing radiation. 1H MRS can quantify lipid content in liver and muscle and can detect other metabolites, such as 2-hydroxyglutarate, in vivo. Of interest, many studies have indicated that hepatic and intramyocellular lipid content is inversely correlated with insulin sensitivity in humans. Thus, lipid content can be utilized as an in vivo biomarker for detecting early insulin resistance. Employing 13C MRS, hepatic glycogen synthesis and breakdown can be directly detected, whereas 31P MRS provides in vivo adenosine triphosphate (ATP) synthesis rates by saturation transfer methods in addition to ATP content. These in vivo data can be very difficult to assess by other methods and offer a critical piece of metabolic information. To aid the reader in understanding these new methods, fundamentals of MRS are described in this review in addition to promising future applications of MRS and its limitations.

Massive pulmonary hemorrhage in enterovirus 71-infected hand, foot, and mouth disease / 소아과

Hand, foot, and mouth disease (HFMD) is an acute, mostly self-limiting infection. Patients usually recover without any sequelae. However, a few cases are life threatening, especially those caused by enterovirus 71 (EV71). A 12-month-old boy was admitted to a primary hospital with high fever and vesicular lesions of the mouth, hands, and feet. After 3 days, he experienced 3 seizure episodes and was referred to our hospital. On admission, he was conscious and his chest radiograph was normal. However, 6 hours later, he suddenly lost consciousness and had developed a massive pulmonary hemorrhage that continued until his death. He experienced several more intermittent seizures, and diffuse infiltration of both lung fields was observed on chest radiography. Intravenous immunoglobulin, dexamethasone, cefotaxime, leukocyte-depleted red blood cells, fresh frozen plasma, inotropics, vitamin K, and endotracheal epinephrine were administered. The patient died 9 hours after intubation, within 3 days from fever onset. EV71 subgenotype C4a was isolated retrospectively from serum and nasopharyngeal swab by real-time reverse transcription-polymerase chain reaction. Here, we report a fatal case of EV71-associated HFMD with sudden-onset massive pulmonary hemorrhage and suspected encephalitis.

Massive pulmonary hemorrhage in enterovirus 71-infected hand, foot, and mouth disease / 소아과

Hand, foot, and mouth disease (HFMD) is an acute, mostly self-limiting infection. Patients usually recover without any sequelae. However, a few cases are life threatening, especially those caused by enterovirus 71 (EV71). A 12-month-old boy was admitted to a primary hospital with high fever and vesicular lesions of the mouth, hands, and feet. After 3 days, he experienced 3 seizure episodes and was referred to our hospital. On admission, he was conscious and his chest radiograph was normal. However, 6 hours later, he suddenly lost consciousness and had developed a massive pulmonary hemorrhage that continued until his death. He experienced several more intermittent seizures, and diffuse infiltration of both lung fields was observed on chest radiography. Intravenous immunoglobulin, dexamethasone, cefotaxime, leukocyte-depleted red blood cells, fresh frozen plasma, inotropics, vitamin K, and endotracheal epinephrine were administered. The patient died 9 hours after intubation, within 3 days from fever onset. EV71 subgenotype C4a was isolated retrospectively from serum and nasopharyngeal swab by real-time reverse transcription-polymerase chain reaction. Here, we report a fatal case of EV71-associated HFMD with sudden-onset massive pulmonary hemorrhage and suspected encephalitis.

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.

Optimal Ventilatory Strategies in Preterm Infants: Permissive Hypercapnia

Bronchopulmonary dysplasia associated with lung injury is an important morbidity in extremely low birth weight infants. Lung injury during mechanical ventilation is associated with high tidal volume and high end-inspiratory lung volume. Lung injury and bronchopulmonary dysplasia may be prevented with ventilatory strategies using optimal gas exchange such as permissive hypercapnia. This article will review the pathophysiologic background of lung injury and the current therapeutic ventilatory strategies such as permissive hypercapnia to reduce lung injury in preterm infants.

Neonatal Pulmonary Hypertension / 대한주산의학회잡지

Neonatal pulmonary hypertension is associated with meconium aspiration syndrome, sepsis, asphyxia, respiratory distress syndrome, congenital diaphragmatic hernia, congenital heart disease, or bronchopulmonary dysplasia. Newborns with pulmonary hypertension are at risk of death, chronic lung disease, neurodevelopmental disability, and other complications. Because of the diverse pathophysiology of the underlying disease, the diagnostic evaluation and therapeutic approach are important. This article will review the pathophysiologic background and the current therapeutic options for neonatal pulmonary hypertension.

Neonatal Presentation of Prader-Willi Syndrome / 대한주산의학회잡지

PURPOSE: In Korea, neonatal clinical features and feeding pattern are not reported systematically. So we report the neonatal presentation of Prader-Willi syndrome. METHODS: This is a retrospective study of 14 neonate with Prader-Willi syndrome whose diagnosed in neonatal intensive care unit, Samsung Medical Center between January 1st 1997 and December 30th 2011. RESULTS: The birth characteristics of patients, maternal age was 31.5+/-4.5 years and 5 (35.7%) were primiparous. Oligohydramnios were reported in 2 cases (14.2%), polyhydramnios were reported in 4 cases (28.5%). 5 pregnancies (35.7%) had complained that decreased fetal movements. Mean gestational age were 38.1+/-2.2 weeks and 12 patients (85%) were term infants, one patient (7.1%) was post term infant, the other patient was preterm infants (7.1%). The average weight at birth were 2509.0+/-442.5 grams. All 14 patients (100%) had hypotonia and a weak cry at birth. 9 patients (64.5%) had the characteristic facial dysplasia. In all, nine male patients (100%) had cryptorchidism. All patients had weak sucking power, so they started to eat via nasogastric tube at birth. The mean duration of use nasogastric tube were 3.2+/-2.0 months. The median age of diagnosis were 1.5 months. 7 cases (50%) were diagnosed within one month of life. Median time of starting GH treatment was 2.0 years. The mean interval of from diagnosis to treatment of growth hormone were 2.2+/-2.0 years. CONCLUSION: Early diagnosis of Prader-Willi syndrome is a very important to improve long-term prognosis.

Effect of Clinical Strategy for Preventing Heat Loss Between 23 And 24 Weeks of Gestation

PURPOSE: With conventional methods it has been difficult to maintain a normal body temperature in the case of premature infants born between 23 and 24 weeks of gestation (23/24W). The aim of the present study involves the evaluation of the efficacy of novel clinical strategies to prevent the initial symptoms of hypothermia in 23/24W. METHODS: We retrospectively analyzed the medical records of all 23/24W who were born and admitted to Samsung Medical Center from January 2007 to July 2010 (Period 1) and from August 2010 to May 2011 (Period 2). Data collected from medical charts included body temperature, admission delay time intervals, blood gas analysis, and estimated insensible water loss(IWL). The measurements from three days after birth were compared to those obtained during period 1 (P1), in which conventional support was applied to infants and period 2 (P2), in which new clinical strategies including 1. Elevation of the environmental temperature of the delivery room 2. NICU baby-wrapping, 3. Decreased delays in time intervals from delivery to admission, and 4. Initiation of procedures following the stabilization of body temperature. RESULTS: The body temperature upon admission was significantly higher in P2 than P1 (P1 34.7+/-0.9 vs. P2 35.3+/-0.6degrees C, P=0.011). After the initial procedure, following NICU admission, the body temperature was also significantly higher in P2 than in P1 (P1. 34.9+/-0.8 vs. P2 35.5+/-0.4, P<0.001). The IWL of the first and second day was significantly decreased in infants in the P2 group. Subjects in the P2 group demonstrated significantly improved initial blood gas results of base deficits and bicarbonate concentration, as compared to the P1 group. CONCLUSION: New strategies for the prevention of hypothermia were beneficial for decreasing the recorded incidence of hypothermia and improving the IWL, and base deficits of the initial blood gas analysis in 23/24W.

Environmental tobacco smoke and children's health / 소아과

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on pediatric health, including preterm birth, intrauterine growth retardation, perinatal mortality, respiratory illness, neurobehavioral problems, and decreased performance in school. A valid estimation of the risks associated with tobacco exposure depends on accurate measurement. Nicotine and its major metabolite, cotinine, are commonly used as smoking biomarkers, and their levels can be determined in various biological specimens such as blood, saliva, and urine. Recently, hair analysis was found to be a convenient, noninvasive technique for detecting the presence of nicotine exposure. Because nicotine/cotinine accumulates in hair during hair growth, it is a unique measure of long-term, cumulative exposure to tobacco smoke. Although smoking ban policies result in considerable reductions in ETS exposure, children are still exposed significantly to tobacco smoke not only in their homes but also in schools, restaurants, child-care settings, cars, buses, and other public places. Therefore, more effective strategies and public policies to protect preschool children from ETS should be consolidated.

Environmental tobacco smoke and children's health / 소아과

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on pediatric health, including preterm birth, intrauterine growth retardation, perinatal mortality, respiratory illness, neurobehavioral problems, and decreased performance in school. A valid estimation of the risks associated with tobacco exposure depends on accurate measurement. Nicotine and its major metabolite, cotinine, are commonly used as smoking biomarkers, and their levels can be determined in various biological specimens such as blood, saliva, and urine. Recently, hair analysis was found to be a convenient, noninvasive technique for detecting the presence of nicotine exposure. Because nicotine/cotinine accumulates in hair during hair growth, it is a unique measure of long-term, cumulative exposure to tobacco smoke. Although smoking ban policies result in considerable reductions in ETS exposure, children are still exposed significantly to tobacco smoke not only in their homes but also in schools, restaurants, child-care settings, cars, buses, and other public places. Therefore, more effective strategies and public policies to protect preschool children from ETS should be consolidated.