Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.

Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.

High Rate of Cytomegalovirus Detection in Cholestatic Preterm Infants.

Objectives: To evaluate the prevalence of cytomegalovirus (CMV) infection in preterm infants with cholestasis. Study design: Preterm infants (<37 weeks gestational age) with cholestasis were tested for CMV DNA using Taqman PCR in blood cells from sedimented whole blood, plasma, and urine. Infants were regarded as positive for CMV if any sample was tested positive. Their mothers were tested for CMV serostatus simultaneously. A control group of non-cholestatic preterm infants, and their mothers, were tested at a similar age. Results: A total of 69 preterm infants with a median gestational age of 26 weeks and 5 days were included, 45 cholestatic and 24 non-cholestatic. Of the cholestatic infants, 31/45 (69%) were CMV positive vs. 3/24 (13%) of the non-cholestatic infants (p < 0.001). Cholestatic infants were equally preterm as the non-cholestatic ones, but were more severely ill. After adjusting for the risk factors necrotizing enterocolitis, prolonged parenteral nutrition, and gestational age, being CMV positive remained significantly associated with cholestasis in a multivariable logistic regression model. Characteristics of CMV-positive and -negative cholestatic infants showed differences only for necrotizing enterocolitis, occurring in 55% (17/31) of CMV positive vs. 21% (3/14) of CMV negative (p = 0.054), and mortality. Eight cholestatic CMV-positive infants died (26%) vs. none of the CMV-negative infants (p = 0.044). Conclusions: CMV DNA was detected in two out of three cholestatic preterm infants, by far more often than in the non-cholestatic control group. Cholestasis with simultaneous detection of CMV DNA may be associated with increased mortality.

A Case of Severe Infant-to-Placenta Hemorrhage in Association with Prolonged Delayed Cord Clamping.

BACKGROUND Delayed cord clamping is a well-established and evidence-based clinical practice which has improved the outcomes of many infants. Because of the positive effects of delayed cord clamping, non-evidence-based practices, including delaying cord clamping for up to 1 h until complete non-severance of the placenta, are becoming more widespread. CASE REPORT A full-term infant, born vigorous and well at a hospital, was hypotonic and poorly perfused at 50 min of age. Lab tests at 2 h of age showed metabolic acidosis with a pH of 6.95 and base excess of -18. The hemoglobin level decreased from 226 g/L in the umbilical cord at birth to 108 g/L in the infant at 12 h of age. Infection, cardiac malformation, and internal hemorrhage were ruled out. Review of the perinatal history revealed the cord was deliberately not clamped until the infant was about 50 min old and the placenta was placed below the level of the child during this time. The infant was considered to have lost a large volume of blood into the placenta, causing a hypovolemic shock. CONCLUSIONS Different medical societies recommend delayed cord clamping from at least 30 sec up to 3 min, and there is no evidence of additional benefits after the placenta has been delivered and cord pulsations have ceased. This case report shows that extremely late cord clamping can be acutely dangerous to the infant. It is important to discourage from this practice, and if parents reject cord clamping, the positioning of the placenta may be important.

Altered Intracellular ATP Production by Activated CD4+ T-Cells in Very Preterm Infants.

Background. The neonatal immune system is not fully developed at birth; newborns have adequate lymphocytes counts but these cells lack function. Objective. To assess the activity of T-cells and the influence of the main perinatal factors in very preterm infants (birth weight < 1500 g). Design. Blood samples from 59 preterm infants (21/59 were dizygotic twins) were collected at birth and at 30 days of life to measure CD4+ T-cell activity using the ImmuKnow™ assay. Fifteen healthy adults were included as a control group. Results. CD4+ T-cell activity was lower in VLBW infants compared with adults (p < 0.001). Twins showed lower immune activity compared to singletons (p = 0.005). Infants born vaginally showed higher CD4+ T-cell activity compared to those born by C-section (p = 0.031); infants born after prolonged Premature Rupture of Membranes (pPROM) showed higher CD4+ T-cell activity at birth (p = 0.002) compared to infants born without pPROM. Low CD4+ T-cell activity at birth is associated with necrotizing enterocolitis (NEC) in the first week of life (p = 0.049). Conclusions. Preterm infants show a lack in CD4+ T-cell activity at birth. Perinatal factors such as intrauterine inflammation, mode of delivery, and zygosity can influence the adaptive immune activation capacity at birth and can contribute to exposing these infants to serious complications such as NEC.

Bi-level CPAP does not change central blood flow in preterm infants with respiratory distress syndrome.

BACKGROUND: Current literature provides limited data on the hemodynamic changes that may occur during bi-level continuous positive airway pressure (CPAP) support in preterm infants. However, the application of a positive end-expiratory pressure may be transmitted to the heart and the great vessels resulting in changes of central blood flow. OBJECTIVE: To assess changes in central blood flow in infants with respiratory distress syndrome (RDS) during bi-level CPAP support. DESIGN: A prospective study was performed in a cohort of 18 Very-Low-Birth-Weight Infants who were put on nasal CPAP support (4-5 cmH2O) because they developed RDS within the first 24-72 hours of life. Each subject was switched to bi-level CPAP support (Phigh 8 cmH2O, Plow 4-5 cmH2O, Thigh 0.5-0.6 seconds, 20 breaths/min) for an hour. An echocardiographic study and a capillary gas analysis were performed before and after the change of respiratory support. RESULTS: No differences between n-CPAP and bi-level CPAP in left ventricular output (LVO, 222.17 ± 81.4 vs 211.4 ± 75.3 ml/kg/min), right ventricular output (RVO, 287.8 ± 96 vs 283.4 ± 87.4 ml/kg/min) and superior vena cava flow (SVC, 135.38 ± 47.8 vs 137.48 ± 46.6 ml/kg/min) were observed. The hemodynamic characteristics of the ductus arteriosus were similar. A significant decrease in pCO2 levels after bi-level CPAP ventilation was observed; pCO2 variations did not correlate with modifications of central blood flow (LVO: ρ=0.11, p=0,657; RVO: ρ=-0.307, p=0.216; SVC: ρ=-0.13, p=0.197). CONCLUSIONS: Central blood flow doesn't change during bi-level CPAP support, which could become a hemodinamically safe tool for the treatment of RDS in preterm infants.

Pilot observational study on haemodynamic changes after surfactant administration in preterm newborns with respiratory distress syndrome.

BACKGROUND: Surfactant treatment reduces respiratory morbidity and mortality in preterm infants. Data on its haemodynamic consequences are conflicting. The aim was to characterise the haemodynamic effects of surfactant treatment on cardiac function in preterm newborns with respiratory distress syndrome (RDS). METHODS: Preterm infants (gestational age <34 weeks, birth weight <2000 g) with RDS, who received surfactant within 72 hours of life, were recruited.Echocardiography was performed before surfactant, and 2 and 24 hours after. Left and right ventricular peak systolic, early diastolic and late diastolic myocardial velocities were measured using Tissue Doppler Imaging (TDI), while characteristics of the ductus arteriosus, pulmonary artery pressure, right ventricular (RVO) and left ventricular output were measured by standard echocardiography. Tricuspidal Annular Plane Systolic Excursion (TAPSE) was measured on the free wall of the tricuspid annulus. RESULTS: Fourteen patients were studied. Surfactant was associated with a decrease in pulmonary pressure and an increase in RVO. The improvement of right ventricular function was also confirmed by a significant increase in right peak systolic velocity and in TAPSE. Left ventricular velocities did not change significantly after surfactant. CONCLUSIONS: Surfactant administration in preterm infants with RDS did not impair myocardial contractility and was followed by increased RVO, in agreement with other parameters of right ventricular function. TDI and TAPSE appeared to be reliable and feasible in this population. The addition of TDI and TAPSE to standard neonatal echocardiography may provide additional information about cardiac function.

Respiratory syncytial virus infection in infants and correlation with meteorological factors and air pollutants.

BACKGROUND: Respiratory Syncytial Virus (RSV) is the most important cause of severe respiratory infections in infants with seasonal epidemics. Environmental factors (temperature, humidity, air pollution) could influence RSV epidemics through their effects on virus activity and diffusion. METHODS: We conducted a retrospective study on a paediatric population who referred to our Paediatric Emergency Unit in order to analyze the correlation between weekly incidence of RSV positive cases during winter season in Bologna and meteorological factors and air pollutants concentration. RESULTS: We observed a significant correlation between the incidence of RSV infections and the mean minimum temperature registered during the same week and the previous weeks.The weekly number of RSV positive cases was also correlated to the mean PM10 concentration of the week before. CONCLUSIONS: RSV epidemic trend in Bologna (Italy) is related to the mean minimum temperature, and the mean PM10 concentration.

Urinary neutrophil gelatinase-associated lipocalin at birth predicts early renal function in very low birth weight infants.

Preterm infants are exposed to conditions that can impair renal function. We evaluated the ability of serum and urinary neutrophil gelatinase-associated lipocalin (sNGAL and uNGAL) to predict renal function in the first weeks of life. From September 2008 to July 2009, infants weighing ≤1500 g at birth with no major congenital anomalies or sepsis were eligible. We measured sNGAL and uNGAL levels at birth. To evaluate renal function, we determined changes in serum creatinine (sCreat) and estimated GFR (eGFR) from birth to d 21. Forty neonates (mean GA, 27 ± 2 wk) completed the study. Renal function improved in 32 of 40 (80%) infants (normal renal function, NRF group) (sCreat, from 0.97 ± 0.2 to 0.53 ± 0.13 mg/dL; eGFR, from 15.3 ± 4.1 to 28.6 ± 7.9 mL/min), whereas renal function worsened in 8 of 40 (20%) infants (impaired renal function, IRF group) (sCreat, from 0.71 ± 0.27 to 0.98 ± 0.43 mg/dL; eGFR from 23 ± 14.7 to 16.4 ± 9.1 mL/min). The uNGAL/urinary creatinine (uCreat) ratio at birth was higher in the IRF group (31.05 ng/mg) than the NRF group (6.0 ng/mg), and uNGAL was significantly higher in IRF group, detecting IRF with a cutoff of 100 ng/mL. uNGAL levels at birth may have a predictive role in very LBW (VLBW) infants.

Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.

Generalized arterial calcification of infancy (GACI) is a rare condition characterized by arterial calcification within the internal elastic lamina associated with intimal proliferation, leading to stenosis of great and medium-sized vessels. This disease, caused by mutations in multiple exons of ENPP1, frequently results in death in infancy. Nowadays, the most promising therapeutic compounds for this rare disease are bisphosphonates. We describe a case of GACI associated with the novel mutation c.653A>T (p.D218V) in ENPP1 on both alleles. The male infant was delivered prematurely and developed heart failure, severe hypertension, and diffuse calcifications of all arterial districts. He was treated with etidronate (18 mg/kg/day); however, the clinical condition did not improve, and a resolution of calcifications was not observed. The infant died within the 6th month of life of ischemic heart failure. We conclude that even if the diagnosis of GACI is established early and bisphosphonate treatment is started early, the prognosis can be very poor.