Meconium peritonitis resulting from different etiologies in siblings: a case report.

BACKGROUND: Meconium peritonitis is defined as aseptic chemical inflammation caused by intrauterine bowel perforation. The underlying causes of bowel perforation include intestinal atresia, midgut volvulus, intussusception, congenital bands, and meconium ileus. CASE PRESENTATION: Siblings with prenatally diagnosed meconium peritonitis of different etiologies were found. The elder sister was born at 36 + 6 weeks gestation with a birth weight of 3110 g. She was diagnosed with meconium peritonitis caused by ileal atresia. Two years later, the younger brother was born at 34 + 3 weeks gestation with a birth weight of 2850 g. He was diagnosed with meconium peritonitis caused by midgut volvulus. CONCLUSIONS: Among the previously reported cases of meconium peritonitis, familial occurance of meconium peritonitis is extremely rare. We present a case of prenatally diagnosed meconium peritonitis in siblings to promote further understanding of its etiology and clinical course.

Extracerebral choroid plexus papilloma in the pharynx with airway obstruction in a newborn: a case report.

BACKGROUND: Choroid plexus papillomas (CPPs) are rare, usually benign, neoplasms originating in the central nervous system. In this study, we present the first case of a giant airway-obstructing CPP in the pharynx of a newborn. CASE PRESENTATION: A cystic mass located in the pharynx was noted in a fetus at the 29th week of gestation. Elective cesarean section was performed at the 38th week of gestation with successful intubation and ex utero intrapartum treatment. On computed tomography, there was a huge airway-obstructing cystic mass in the choana and pharynx. Elective surgery with total excision was performed, and histological examination confirmed the diagnosis of CPP. CONCLUSION: We report the first case of an extracerebral airway-obstructing CPP in the pharynx of a newborn. Radiologic examinations are not enough for the diagnosis of CPPs, and complete excision of the tumor with histological confirmation is indispensable for accurate diagnosis and treatment.

Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.

INTRODUCTION: Bart's syndrome, a hereditary mechanobullous disorder characterized by aplasia cutis congenita (ACC) with epidermolysis bullosa (EB), has not been genotyped frequently. CASE REPORT: A full-term female neonate had well-demarcated absence of skin on both legs at birth, with blisters and erosive patches developing immediately after birth. Electron microscopy showed blister formation under the lamina densa layer. Genetic studies revealed two heterogenous frameshift mutations in exons 31 and 109 of COL7A1. A diagnosis of Bart's syndrome, recessive dystrophic EB with ACC, was made. There was no pyloric atresia or ureteral stenosis, but congenital hypothyroidism was diagnosed 42 days after birth. CONCLUSION: The novel frameshift mutations in COL7A1 may result in Bart's syndrome and suggest the importance of genetic testing in diagnosis of this disease.

Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.

BACKGROUND: Thanatophoric dysplasia (TD) results from sporadic de novo mutations in the FGFR3 gene. Upon confirming intrauterine diagnosis of this perinatal disease, pregnancy termination is recommended. There is limited information on the natural history of longer-term survivors with type 1 TD. CASE REPORT: A full-term neonate was confirmed via postnatal genetic testing to have type 1 TD. At 28 days, chylous ascites developed. Medium-chain triglyceride use improved the ascites. Cerebral ventriculomegaly worsened throughout life. Death due to respiratory failure occurred at age 5 months. CONCLUSION: The chylous ascites in this child with type 1 TD and survival past the neonatal stage suggests that type 1 TD may be accompanied by abnormalities of the lymphatic channels. Moreover, ventriculomegaly can be progressive.

Neonatal Iliopsoas Abscess: The First Korean Case.

Iliopsoas abscess (IPA) is rare in neonates. We present a case of neonatal IPA that was initially believed to bean inguinal hernia. A 20-day-old male infant was referred to our hospital for herniorrhaphy after a 2-day history of swelling and bluish discoloration of the left inguinal area and leg without limitation of motion. Abdominal and pelvic ultrasonography suggested a femoral hernia, but the anatomy was unclear. Abdominal computed tomography revealed a multi-septated cystic mass extending into the psoas muscle from the lower pole of the left kidney to the femur neck. Broad spectrum antibiotics were initiated, and prompt surgical exploration was planned. After opening the retroperitoneal cavity via an inguinal incision, an IPA was diagnosed and surgically drained. Culture of the abscess fluid detected Staphylococcus aureus, sensitive to methicillin. The patient was discharged without complication on the 17th postoperative day.

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.

Permissive hyperglycemia in extremely low birth weight infants.

The aim of this study is to evaluate the outcomes of permissive hyperglycemia up to < 300 mg/dL in extremely-low-birth-weight infants (ELBWIs). We retrospectively reviewed the medical records of 260 live-born ELBWIs at Samsung Medical Center between 2004 and 2008, grouped according to peak blood glucose level and management during the first 14 days of life. The groups were normoglycemia (N), blood glucose ≤ 200 mg/dL; permissive hyperglycemia (P), blood glucose 201-299 mg/dL without insulin treatment; treated hyperglycemia (T), blood glucose ≥ 300 mg/dL with insulin. Only 15% of patients were grouped as N, with 39% as P and 46% as T. Although P had lower birth weight, P had a similar daily calorie and glucose intake as well as urine output compared to N. There was no significant correlation between blood glucose level and urine output on day 7. Compared to N, P showed faster weight gain and similar mortality, morbidities, and long-term neurological outcomes. Permissive hyperglycemia up to < 300 mg/dL without insulin treatment during the first 14 days of life is not associated with osmotic diuresis or increased mortality or morbidities, suggesting that it is not detrimental in ELBWIs.

Scrotal pyocele secondary to gastrointestinal perforation in infants: a case series.

Pyocele in infants is rarely described in the literature, but it is an emergent condition that requires rapid recognition and treatment to prevent testicular loss. If peritonitis due to gastrointestinal perforation occurs, abdominal contamination may spread through a patent processus vaginalis in an infant, which may lead to pyocele. We report the cases of three infants with scrotal pyocele due to the spread of infection or inflammatory material from the intraperitoneal cavity through a patent processus vaginalis. Two infants were surgically treated, while the other was treated with percutaneous aspiration and intravenous antibiotic administration. Although rare, pyocele should be considered in the differential diagnosis of acute scrotum in infants, especially in infants who previously had peritonitis due to gastrointestinal perforation.

Clinical and Laboratory Findings of Nosocomial Sepsis in Extremely Low Birth Weight Infants According to Causative Organisms.

BACKGROUND: nosocomial sepsis remains a significant source of morbidity and mortality in extremely low birth weight (ELBW) infants. Early and accurate diagnosis is very important, but it is difficult due to the similarities in clinical manifestation between the causative microorganisms. We tried to identify the differences between causative microorganisms in clinical and laboratory findings and to help choose antibiotics, when sepsis was suspected in ELBW infants. METHODS: a retrospective study was conducted on preterm infants, born at less than 28 weeks of gestation, with a birth weight of less than 1000 g between January 2009 and December 2019. Clinical and laboratory findings of suspected sepsis, after the first 72 h of life, were assessed. We classified them into four groups according to blood culture results (gram positive, gram negative, fungal, and negative culture groups) and compared them. RESULTS: a total of 158 patients were included after using the exclusion criteria, with 45 (29%) in the gram positive group, 35 (22%) in the gram negative group, 27 (17%) in the fungal group, and 51 (32%) in the negative culture group. There were no significant differences in mean gestational age, birth weight, and neonatal morbidities, except for the age of onset, which was earlier in the fungal group than other groups. White blood cell (WBC) counts were the highest in the gram negative group and the lowest in the fungal group. The mean platelet counts were the lowest in the fungal group. C-reactive protein (CRP) levels were the highest in the gram negative group, while glucose was the highest in the fungal group. CONCLUSIONS: in conclusion, we showed that there are some differences in laboratory findings, according to causative microorganisms in the nosocomial sepsis of ELBW infants. Increased WBC and CRP were associated with gram negative infection, while decreased platelet and glucose level were associated with fungal infection. These data may be helpful for choosing empirical antibiotics when sepsis is suspected.

Association between vitamin D deficiency at one month of age and bronchopulmonary dysplasia.

ABSTRACT: Vitamin D deficiency is common and increases the likelihood of neonatal morbidities in preterm infants. This study assessed vitamin D levels at 1 month of age after 4 weeks of vitamin D supplementation and determined the association between vitamin D levels and neonatal morbidities.This retrospective study included preterm infants with birth weight <1500 g or gestational age <32 weeks born in our hospital between January 2018 and December 2019. They were administered 400 IU of oral vitamin D supplementation after birth according to our policy. The infants were then divided into sufficient (≥20 ng/mL) and deficient (<20 ng/mL) groups according to their serum vitamin D levels at 1 month of age.The vitamin D deficient and sufficient groups included 49 and 41 patients, respectively. The mean gestational age and birth weight. GHT in the vitamin D deficient group were 29.1 ±â€Š2.1 weeks and 1216.1 ±â€Š308.1 g, respectively, and 30.0 ±â€Š1.7 weeks and 1387.6 ±â€Š350.8 g, respectively, in the sufficient group. No significant differences were observed between the 2 groups in demographic and clinical outcomes except for bronchopulmonary dysplasia (BPD), which occurred significantly more often in the vitamin D-deficient group (odds ratio 2.21; 95% confidence interval, 1.85-2.78; P = .02).The results of our study suggest that vitamin D deficiency at 1 month of age is associated with BPD in preterm infants.

Neonatal Lupus Erythematosus as a Rare Cause of Fever in Young Infants.

Neonatal lupus erythematosus (NLE) is a rare disease caused by passively transmitted autoantibodies from the mother. NLE is a multi-organ system disease characterized by cutaneous, cardiac, hematological, hepatobiliary, and neurological manifestations. This study aimed to review the various symptoms and clinical manifestations in young infants with NLE and their mothers. We conducted a retrospective review of medical records of patients with NLE who were both examined and treated at Pusan National University Children's Hospital between January 2009 and December 2020 and their mothers. Twenty-seven patients with NLE comprising 13 male patients (48.1%) and 14 female patients (51.9%) were included. The most common symptom was rash (40.7%), followed by fever (25.9%), arrhythmia (14.8%), splenomegaly (11.1%), and intrauterine growth retardation (7.4%). Seven patients with fever had various organ system manifestations, including cutaneous (100%), hematological (71.4%), hepatobiliary (57.1%), and central nervous system (CNS; 28.6%) manifestations. Two of the febrile patients had aseptic meningitis. Cutaneous, cardiac, hematological, hepatobiliary, and CNS involvement were noted in 44.4%, 18.5%, 51.9%, 40.7%, and 22.2% of the patients, respectively. Systemic lupus erythematosus (SLE) was the most common maternal disease (14/27, 51.9%). Ten mothers (37.0%) had not been diagnosed with any autoimmune disease until their babies were diagnosed. Among them, three were subsequently diagnosed with SLE, five were diagnosed with the Sjögren's syndrome, and two of them still had no known diagnosis of any autoimmune disorder. Fever is a common symptom of NLE; thus, when there is no clear focus of fever in infants, NLE needs to be considered, especially in cases with skin rashes.

Using lactate dehydrogenase to predict the severity of respiratory distress in term newborn infants with no perinatal asphyxia.

BACKGROUND: We aimed to establish whether knowledge of lactate dehydrogenase (LDH) levels on day 1, as well as the change in these levels in the first three days, could be of clinical benefit in the diagnosis and/or prediction of severity of respiratory distress syndrome (RDS) and transient tachypnea of the newborn (TTN). METHODS: A retrospective study was conducted on 275 term infants (35 with RDS and 240 with TTN) admitted to the neonatal intensive care unit from January 2014 to June 2019. LDH levels were measured on admission and after three days. RESULTS: Both RDS and TTN groups had elevated LDH levels during admission. LDH levels were significantly higher in the RDS group than in the TTN group on both days. LDH levels in both groups significantly correlated with both the duration of respiratory support required, as well as the number of hospital days. We used these outcomes as a measure of severity of these conditions. CONCLUSIONS: In patients with respiratory distress, it may not be clinically useful to use LDH levels on day 1 to differentiate between RDS and TTN, despite the statistically significant differences, because of the overlapping values. However, LDH levels on day 1 and day 3 may predict the degree and duration of the required respiratory support for both RDS and TTN groups.

Predictive value of an early amplitude-integrated electroencephalogram for short-term neurologic outcomes in preterm infants.

BACKGROUND AND OBJECTIVES: The aim of this study was to compare serial scores of amplitude-integrated electroencephalography (aEEG) in preterm infants with favorable neurologic outcome compared with those with unfavorable neurologic outcome and to evaluate whether aEEG in the early days of life has predictive value for short-term neurologic outcome in preterm infants. METHODS: This prospective observational study included infants born at ≤32 weeks of gestational age and ≤1,500 g of birth weight. On the basis of brain ultrasonography findings, the infants were divided into two groups (favorable and unfavorable outcome group) at 36 weeks of corrected age or at discharge. aEEG was performed at 12-14 h (day-1), 46-48 h (day-2), 70-72 h (day-3), and 1 week (day-7) of life. The aEEG recordings were analyzed using the criteria described by Burdjalov et al.23 and the serial scores of aEEG were compared between the two groups. RESULTS: Thirty five infants were enrolled and 18 infants and 17 infants were identified into both groups, respectively. Infants in the favorable outcome group showed high scores in almost all parameters and the score of all parameters increased over time. However, the scores of all components decreased in day-2 compared with those of day 1 in the unfavorable outcome group. The total score less than 3 of day-2 has predictive value of 70.6% of sensitivity and 72.2% of specificity for unfavorable outcome. CONCLUSION: We found that aEEG is a useful predictor for short-term neurologic outcome in preterm infants.

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations.

Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity. The aim of this study was to describe the most severe form of ARPKD, with a fatal clinical course, and its association with mutations in polycystic kidney and hepatic disease 1 (fibrocystin) (PKHD1). Clinical, imaging, pathological, and molecular genetic findings were reviewed in patients prenatally affected with ARPKD and their families.Five unrelated Korean families, including 9 patients, were analyzed. Among the 9 patients, 2 fetuses died in utero, 6 patients did not survive longer than a few days, and 1 patient survived for 5 months with ventilator support and renal replacement therapy. A total of 6 truncating mutations (all nonsense) and 4 missense mutations were detected in a compound heterozygous state, including 4 novel mutations. The most severe phenotypes were shared among all affected patients in each family, irrespective of mutation types.Our data suggest a strong genotype-phenotype relationship in ARPKD, with minimal intra-familial heterogeneity. These findings are important for informing future reproductive planning in affected families.

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome.

PURPOSE: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. METHODS: Twenty-three patients with prepubertal NS treated at Pusan National University Children's Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. RESULTS: The mean chronological age at the start of GH treatment was 5.85±2.67 years. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group. CONCLUSION: The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.

The clinical characteristics and neurodevelopmental outcome of preterm infants with persistent periventricular echogenicity.

PURPOSE: Periventricular echogenicity (PVE) presents as diffuse echo dense lesions of the periventricular white matter on cranial ultrasonography. Beyond two weeks of life, it is considered as prolonged or persistent PVE. The aim of our study was to investigate the clinical characteristics of preterm infants with persistent PVE beyond 2 weeks after birth and to determine whether these infants had an adverse neurodevelopmental outcome. METHODS: The medical records of preterm infants who were born at < 34 weeks of gestation and admitted to Pusan National University Hospital between 2009 and 2014 were reviewed. A total of 28 preterm infants with persistent PVE were enrolled. Sixty compatible infants closely matched for gestational age and birth weight to infants with PVE were selected as the control group. Clinical data, including maternal, perinatal and neonatal characteristics, were analyzed. We compared the Bayley Scales of Infant Development-III at 12 months' corrected age. RESULTS: The mean gestational age and birth weight were 31 + 3 (range, 29 + 2-33 + 6) weeks and 1523 (range, 911-2210) g, respectively, in the persistent PVE group. In the control group, the mean gestational age was 31 + 4 (range, 29 + 2-33 + 6) weeks and the mean birth weight was 1537 (range, 840-2100) g. There was no significant difference between the persistent PVE group and the control group, except for a significantly higher incidence of late sepsis in the persistent PVE group (p = 0.001). The results of Bayley test at 12 months of corrected age were available for 24 infants in the persistent PVE group and for 26 infants in the control group. A motor score of 86 (range, 78-95) versus 88 (range, 79-100), a language composite score of 88 (range, 78-97) versus 89 (range, 80-105), and a cognitive score of 90 (range, 81-100) versus 92 (range, 85-105) were observed in the persistent PVE group and the control group, respectively. No difference was detected in any scores between the two groups. CONCLUSION: The clinical characteristics and neurodevelopmental outcomes of preterm infants with persistent PVE were not different from those of infants with normal findings. Our study supports the concept that persistent PVE without cystic change may be a benign finding.

Parenteral Nutrition-Associated Cholestasis in Very Low Birth Weight Infants: A Single Center Experience.

PURPOSE: Parenteral nutrition (PN)-associated cholestasis (PNAC) is one of the most common complications in very low birth weight infants (VLBWIs). The aim of this study is to evaluate the risk factors of PNAC in VBLWIs. METHODS: We retrospectively reviewed the medical records of 322 VLBWIs admitted to the neonatal intensive care unit of our hospital from July 1, 2009 to December 31, 2013. We excluded 72 dead infants; 6 infants were transferred to another hospital, and 57 infants were transferred to our hospital at 2 weeks after birth. The infants were divided into the cholestasis and the non-cholestasis groups. PNAC was defined as a direct bilirubin level of ≥2.0 mg/dL in infants administered with PN for ≥2 weeks. RESULTS: A total of 187 VLBWI were enrolled in this study; of these, 46 infants developed PNAC. Multivariate logistic regression analysis showed that the risk factors of PNAC in VLBWI were longer duration of antimicrobial use (odds ratio [OR] 4.49, 95% confidence interval [95% CI] 4.42-4.58), longer duration of PN (OR 2.68, 95% CI 2.41-3.00), long-term lack of enteral nutrition (OR 2.89, 95% CI 2.43-3.37), occurrence of necrotizing enterocolitis (OR 2.40, 95% CI 2.16-2.83), and gastrointestinal operation (OR 2.19, 95% CI 2.03-2.58). CONCLUSION: The results of this study suggest that shorter PN, aggressive enteral nutrition, and appropriate antimicrobial use are important strategies in preventing PNAC.

Establishing reference values for amplitude-integrated electroencephalography in preterms below 35 weeks of gestational age: A prospective observational cohort study.

Characteristic patterns in amplitude-integrated electroencephalography (aEEG) develop with gestational age (GA), and so can be used to evaluate brain maturation in premature infants. Reference aEEG values in normal preterm infants have not been identified and data are scarce. We aimed to validate a currently available aEEG scoring system. We also investigated the development of aEEG activity during the first week after birth, determining reference values in preterm infants with no abnormal cranial ultrasound findings. We prospectively studied aEEG and cranial ultrasounds in infants with a GA of < 35 weeks. We conducted aEEG at 12-14 hours, 46-48 hours, 70-72 hours, and 1 week after birth. The aEEG recordings were evaluated using Burdjalov criteria, scored by two independent neonatologists. Thirty-four infants were enrolled and completed the 1-week evaluation. GA ranged from 24 to 35 weeks and birth weights varied between 570 and 2,100 g. We analyzed 134 aEEG tracings, with a mean difference between raters of -0.05. Total scores, summed from scores for each assessed variable, increased gradually with advancing gestational and postnatal age. However, highest scores were not attained until 35 weeks' gestational age. There was high inter-rater agreement for aEEG scoring, and we could ascertain some approximate reference values for aEEG development in preterm infants at varying GA. To establish standardized aEEG reference criteria, further studies in larger cohorts of premature infants should be performed over longer periods.

Meconium-related ileus in very low birth weight and extremely low birth weight infants: immediate and one-year postoperative outcomes.

PURPOSE: One of the major causes of bowel obstruction in extremely premature infants is a meconium obstruction. However, there are many challenges not only in the recognition and diagnosis, but also in the management of meconium obstruction. This study aimed to find perioperative clinical features and determine the postoperative course of meconium-related ileus in very low birth weight (VLBW) and extremely low birth weight (ELBW) infants. METHODS: We retrospectively reviewed the clinical data of premature infants (n = 11, VLBW infnats; n = 16, ELBW infants) with a meconium-related ileus who underwent operation for intractable ileus between January 2009 and May 2013. RESULTS: The average duration of conservative management was longer and postnatal age was older in ELBW infants than VLBW infants: 19.9 days vs. 11.5 days and 34.9 days vs. 19.2 days. The immediate postoperative course (day that beginning feeding and full feeding) was not significantly different based on birth weight, but the ELBW infants had slightly higher mortality. At 12 months of corrected age after operation, both average body weight and average height was below 10th percentile for growth in most infants (61.1%). CONCLUSION: There was a slightly high mortality in the ELBW infants, but two groups did not experience significant differences in the immediate postoperative course of meconium-related ileus. Nevertheless, considering their growth patterns, it is necessary to do a close follow-up and more aggressive nutritional management to achieve optimal growth and development in both patient groups.