A Case of Oropharyngeal Teratoma Associated with Subluxation of Temporomandibular Joint: A Case Report

Teratomas are the most common congenital tumors and contain cells from the ectoderm, mesoderm, and endoderm. They are mainly located in the central axis of the body. The tumors are most commonly found in the sacrococcygeal region, followed by the gonadal site and mediastinum, and rarely in the head and neck. Teratomas can cause various clinical symptoms depending on the location of the mass and may result in feeding difficulties or respiratory distress. We present a case of oropharyngeal teratoma accompanied by respiratory distress and persistent feeding difficulties, leading to compression of the temporomandibular joint, which in turn caused subluxation.

Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Two Cases of Gastric Volvulus in Neonates

Gastric volvulus in neonates is an extremely uncommon disorder, which is challenging to diagnose because of its non-specific clinical manifestations. Early diagnosis of gastric volvulus is important to avoid life-threatening complications, such as gastric ischemia, necrosis, and perforation. A definitive diagnosis could be made with radiological upper gastrointestinal series. In this report, we present two cases of neonate gastric volvulus, which were confirmed by radiological upper gastrointestinal series, and the patients underwent surgical treatment.

Implementation of the Feed and Swaddle Technique as a Non-Pharmacological Strategy to Conduct Brain Magnetic Resonance Imaging in Very Low Birth Weight Infants

Purpose@#Magnetic resonance imaging (MRI) is a useful tool for evaluating brain injury and maturation in preterm infants and often requires sedation to acquire images of sufficient quality. Infant sedation is often associated with adverse events, despite extreme precautions. In this study, the swaddling technique was investigated as an alternative non-pharmacological strategy to obtain brain MRIs of sufficient quality. @*Methods@#We applied the feed and swaddle technique during routine brain MRI as a quality improvement project and compared its morbidity with that of sedation in a historic age-matched group. Seventy-nine very low birth weight infants in the neonatal intensive care unit of Ajou University Hospital (Suwon, Korea) were enrolled. Thirty-two (40.5%) infants were in the feed and swaddling group, and 47 (59.5%) were in the sedation group. @*Results@#The morbidity associated with the cardiopulmonary system (swaddling group vs. sedation group: 53.13% [n=17] vs. 63.83% [n=30], P=0.723) and central nervous system (40.63% [n=13] vs. 29.79% [n=14], P=0.217) were not significantly different between groups. The MRI failure rate was not significantly different (swaddling group vs. sedation group: 12.5% [n=4] vs. 4.3% [n=2], P=0.174). The MRI scanning time was longer in the swaddling group than in the sedation group (76.5±20.3 minutes vs. 61.5±13.6 minutes, P=0.001). Cardiopulmonary adverse events were significantly less common in the swaddling group than in the sedation group (3.13% [n=1] vs. 34.04% [n=16], P=0.002). @*Conclusion@#The success rate of MRI was comparable between the swaddling technique and sedation. Furthermore, despite the drawback of prolonged scan time, cardiopulmonary adverse events are fewer with swaddling than with sedative agents. Therefore, swaddling can be an alternative to sedation or anesthesia when performing neonatal MRI scans.

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient’s mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Two Cases of Gastric Volvulus in Neonates

Gastric volvulus in neonates is an extremely uncommon disorder, which is challenging to diagnose because of its non-specific clinical manifestations. Early diagnosis of gastric volvulus is important to avoid life-threatening complications, such as gastric ischemia, necrosis, and perforation. A definitive diagnosis could be made with radiological upper gastrointestinal series. In this report, we present two cases of neonate gastric volvulus, which were confirmed by radiological upper gastrointestinal series, and the patients underwent surgical treatment.

Implementation of the Feed and Swaddle Technique as a Non-Pharmacological Strategy to Conduct Brain Magnetic Resonance Imaging in Very Low Birth Weight Infants

Purpose@#Magnetic resonance imaging (MRI) is a useful tool for evaluating brain injury and maturation in preterm infants and often requires sedation to acquire images of sufficient quality. Infant sedation is often associated with adverse events, despite extreme precautions. In this study, the swaddling technique was investigated as an alternative non-pharmacological strategy to obtain brain MRIs of sufficient quality. @*Methods@#We applied the feed and swaddle technique during routine brain MRI as a quality improvement project and compared its morbidity with that of sedation in a historic age-matched group. Seventy-nine very low birth weight infants in the neonatal intensive care unit of Ajou University Hospital (Suwon, Korea) were enrolled. Thirty-two (40.5%) infants were in the feed and swaddling group, and 47 (59.5%) were in the sedation group. @*Results@#The morbidity associated with the cardiopulmonary system (swaddling group vs. sedation group: 53.13% [n=17] vs. 63.83% [n=30], P=0.723) and central nervous system (40.63% [n=13] vs. 29.79% [n=14], P=0.217) were not significantly different between groups. The MRI failure rate was not significantly different (swaddling group vs. sedation group: 12.5% [n=4] vs. 4.3% [n=2], P=0.174). The MRI scanning time was longer in the swaddling group than in the sedation group (76.5±20.3 minutes vs. 61.5±13.6 minutes, P=0.001). Cardiopulmonary adverse events were significantly less common in the swaddling group than in the sedation group (3.13% [n=1] vs. 34.04% [n=16], P=0.002). @*Conclusion@#The success rate of MRI was comparable between the swaddling technique and sedation. Furthermore, despite the drawback of prolonged scan time, cardiopulmonary adverse events are fewer with swaddling than with sedative agents. Therefore, swaddling can be an alternative to sedation or anesthesia when performing neonatal MRI scans.

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient’s mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

Adverse Events and Risk Factors Associated with Chloral Hydrate Sedation for Brain Magnetic Resonance Imaging in the Neonatal Intensive Care Unit

PURPOSE: This study investigated the incidence of adverse events (AEs) and risk factors associated with sedation using chloral hydrate (CH) for brain magnetic resonance imaging (MRI) in the neonatal intensive care unit (NICU). METHODS: This was a retrospective study of infants who received CH for brain MRI in the NICU. Among the enrolled infants (n=143), 12.6% (n=18) were included in the AE group and 87.4% (n=125) were in the non-adverse event group (NAE). RESULTS: Gestational age (GA) at birth and corrected GA at sedation were 35+0±7+2 and 39+5±3+1 respectively. The rate of AEs was 12.6%, included oxygen desaturation (5.6%), aspiration (4.9%), paradoxical agitation (0.7%), tachycardia or bradycardia (0.7%), and arrest (0.7%). In univariate analysis, the AE group was younger in corrected GA at sedation than the NAE group (37+2 [range, 36+0 to 40+0] vs. 40+1 [range, 38+2 to 41+4], P=0.015). There was no significant difference in CH dosage (50.0 [range, 50.0 to 50.0] vs. 50.0 [range, 50.0 to 50.0], P=0.092), cardiopulmonary (33.3% [n=6] vs. 17.6% [n= 22], P=0.209) and central nervous system (61.1% [n=11] vs. 65.6% [n=82], P=0.054) morbidity. In multivariate analysis, CH dosage was the only significant risk factor for AEs associated with sedation (odds ratio, 1.04; 95% confidence interval, 1.01 to 1.07; P=0.0186). CONCLUSION: AEs associated with sedation using CH are not uncommon and should be considered when using high dose CH for diagnostic testing in the NICU.

Successful Treatment of Neonatal Herpes Simplex Infection Presenting as Fulminant Hepatitis with Acyclovir and Peritoneal Dialysis

Disseminated neonatal herpes simplex virus (HSV) infection is a severe disease with a high mortality rate. Here, we report the patient presented with fulminant hepatic failure secondary to HSV infection followed by renal failure without any mucocutaneous symptoms. The patient recovered after treatment with acyclovir and peritoneal dialysis. This is the first known case of a patient in Korea who survived disseminated HSV infection with fulminant liver failure followed by renal failure without undergoing liver transplantation.

Analysis of the Influencing Factors of 17-Hydroxyprogesterone Level and the Correlation between 17-Hydroxyprogesterone Level and the Clinical Parameters Related to Adrenal Cortical Function in Very-Low-Birth-Weight Infants

PURPOSE: 17-Hydroxyprogesterone (17-OHP) screening results are difficult to interpret owing to the many influencing factors, and confirming the test results takes time. In this study, we examined the factors that affected the 17-OHP level in premature infants. We also evaluated the correlation between 17-OHP level and the clinical parameters related to adrenal cortical function. METHODS: From January 2012 to April 2017, 358 very-low-birth-weight infants (VLBWI) born with birth weights of < 1,500 g were included in the study. Their 17-OHP levels were measured in the neonatal screening test after birth and analyzed by considering various factors that may have influenced the values. RESULTS: The 17-OHP levels negatively correlated with gestational age and birth weight. The values of the parameters that affected the 17-OHP levels were significantly higher in the infants with respiratory distress syndrome (RDS). In relation to the clinical parameters, blood pressure measured within 24 hours, 72 hours, and 1 week after birth negatively correlated with the 17-OHP level. Serum sodium and 17-OHP levels 24 hours after birth were found to be positively correlated. Urine outputs in 1 and 3 days after birth showed significant positive correlations with the 17-OHP level. CONCLUSION: The 17-OHP levels of the VLBWIs were higher when gestational age and birth weight were lower, and were influenced by RDS in the VLBWI. In addition, hypotension and urine output values may be useful in the neonatal intensive care unit as a predictor of early adrenal insufficiency.

Neurodevelopmental Prognostic Factors in 73 Neonates with the Birth Head Injury / 대한신경손상학회지

OBJECTIVE: The objective of this study was to reinterpret the neurodevelopmental prognostic factors that are associated with birth head injury by performing a long-term follow-up. METHODS: Seventy-three neonates with head injuries were retrospectively analyzed after a duration of 10.0±7.3 years to determine the correlations between perinatal factors, including gender, head circumference, gestational age, body weight, and mode of delivery, and head injury factors from radiologic imaging with social, fine motor, language, and motor developmental quotients. RESULTS: There was a statistically significant difference between perinatal factors and head injury factors with respect to head circumference, body weight, gestational age, mode of delivery, Apgar scores at 1 min, cephalohematoma, subdural hemorrhage, subarachnoid hemorrhage, and hypoxic injury, but no direct correlation by regression analysis was observed between perinatal factors and developmental quotients. Of the head injury factors, falx hemorrhage showed a significant indirect relationship with the language and motor developmental quotients. Mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, epidural hemorrhage (EDH), tentorial hemorrhage, brain swelling, and hypoxic injury showed an indirect relationship with social development. CONCLUSION: In terms of perinatal factors and head injury factors, mode of delivery, subgaleal hematoma, cephalohematoma, greenstick skull fracture, EDH, tentorial hemorrhage, falx hemorrhage, brain swelling, and hypoxic injury displayed an indirect relationship with long-term development, and therefore these factors require particular attention for perinatal care.

Quality improvement in pediatric care / 소아과

We often overlook the importance of several safety issues such as identification of patients, timeout procedure, hand hygiene, handoff communication, and many others. This ignorance, along with many other issues, leads to medical error being ranked as a third leading cause of death in the U.S. Consequently, quality improvement (QI) has become one of the major subjects in healthcare despite a relatively short history. Improving quality is about making healthcare safe, effective, patient-centered, timely, efficient, and equitable. Understanding the need and methodology of QI as well as participation is now essential for physicians. Although basic QI methodology has not changed, one of the most fascinating changes in recent QI is conducting large-scale QI projects through multicenter networks. Prospective multicenter QI projects utilizing the Korean Neonatal Network are a substantial initiation of pediatric QI in Korea. The Korean Pediatric Society should set ambitious goals for QI activities for every primary care pediatrician and pediatric subspecialist.

Differences in Clinical Characteristics of Transient Myeloproliferative Disease and Leukemia in Down Syndrome: A Single University Hospital Study / 임상소아혈액종양

BACKGROUND: Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing leukemia. However, in some patients, leukemia does not become apparent despite significant number of blast cells in the peripheral blood. This condition is called Transient myeloproliferative disorder (TMD), and is a disease entity unique to DS newborns and defined as the morphologic detection of blasts in DS less than three months of age. The present study investigated whether there was a difference between leukemia and TMD, and determined prognostic and risk factors. METHODS: We collected blood samples from 317 patients of 433 DS confirmed patients. We found 18 patients who had blast cells in their peripheral blood. RESULTS: Twelve patients were positive for blasts during the neonate period, and only one patient progressed to leukemia. The other 11 patients were later diagnosed with TMD. Six more patients were later diagnosed with leukemia, therefore, 7 patients were diagnosed with leukemia in total. All patients diagnosed with leukemia had anemia at the time of diagnosis, which was not found in TMD patients. All leukemia patients developed their disease after three months of life. Acute Myeloid Leukemia (AML) patients had additional chromosome mutation to trisomy 21 when they were diagnosed. CONCLUSION: In patients with Down Syndrome, anemia at diagnosis and age of onset could be helpful in distinguishing TMD from acute leukemia. Cancerous mutations in the chromosomes of peripheral and marrow blast cells of Down syndrome patients may foreshadow acute leukemia.

Differences in Clinical Characteristics of Transient Myeloproliferative Disease and Leukemia in Down Syndrome: A Single University Hospital Study / 임상소아혈액종양

BACKGROUND: Children with Down syndrome (DS) have a 10- to 20-fold increased risk of developing leukemia. However, in some patients, leukemia does not become apparent despite significant number of blast cells in the peripheral blood. This condition is called Transient myeloproliferative disorder (TMD), and is a disease entity unique to DS newborns and defined as the morphologic detection of blasts in DS less than three months of age. The present study investigated whether there was a difference between leukemia and TMD, and determined prognostic and risk factors.METHODS: We collected blood samples from 317 patients of 433 DS confirmed patients. We found 18 patients who had blast cells in their peripheral blood.RESULTS: Twelve patients were positive for blasts during the neonate period, and only one patient progressed to leukemia. The other 11 patients were later diagnosed with TMD. Six more patients were later diagnosed with leukemia, therefore, 7 patients were diagnosed with leukemia in total. All patients diagnosed with leukemia had anemia at the time of diagnosis, which was not found in TMD patients. All leukemia patients developed their disease after three months of life. Acute Myeloid Leukemia (AML) patients had additional chromosome mutation to trisomy 21 when they were diagnosed.CONCLUSION: In patients with Down Syndrome, anemia at diagnosis and age of onset could be helpful in distinguishing TMD from acute leukemia. Cancerous mutations in the chromosomes of peripheral and marrow blast cells of Down syndrome patients may foreshadow acute leukemia.

Part 7. Neonatal resuscitation: 2015 Korean Guidelines for Cardiopulmonary Resuscitation

No abstract available.

Successfully treated infective endocarditis caused by methicillin-resistant Staphylococcus Aureus in extremely low birth weight infant / 소아과

Survival rates of preterm infants have improved in the past few decades, and central venous catheters play an important role in the intensive medical treatment of these neonates. Unfortunately, these indwelling catheters increase the risk of intracardiac thrombosis, and they provide a nidus for microorganisms during the course of septicemia. Herein, we report a case of persistent bacteremia due to methicillin-resistant Staphylococcus aureus in an extremely low birth weight (ELBW) infant, along with vegetation observed on an echocardiogram, the findings which are compatible with a diagnosis of endocarditis. The endocarditis was successfully treated with antibiotic therapy, and the patient recovered without major complications. We suggest a surveillance echocardiogram for ELBW infants within a few days of birth, with regular follow-up studies when clinical signs of sepsis are observed.

Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the colon. Its main features are profuse watery diarrhea, high fecal chloride concentration, and failure to thrive. Profuse watery diarrhea characterized by a high concentration of chloride in stools results in hypochloremia, hyponatremia, and dehydration with metabolic alkalosis. Early detection and therapeutic intervention can prevent life-threatening symptoms of CCD and growth failure. Recently, several therapies, such as proton pump inhibitors and butyrate, have been suggested for amelioration of diarrhea. Here, we report a case of CCD in a preterm male infant who was successfully treated with an oral proton pump inhibitor.