Fetal permanent junctional reciprocating tachycardia with dilated cardiomyopathy, normal heart rate and transient fetal hydrops; a case report.

Permanent junctional reciprocating tachycardia (PJRT) is a rare form of congenital arrhythmia occurring predominantly in infants and children. Prenatal presentation is frequently characterized by incessant tachycardia leading to dilated cardiomyopathy (DCM). Some patients can have a normal heart rate which leads to a delayed diagnosis. We report a case of a neonate who was presented prenatally with DCM, fetal hydrops, and no signs of fetal arrhythmia. Diagnosis of PJRT was established after delivery with characteristic electrocardiographic patterns. Successful conversion to sinus rhythm with digoxin and amiodarone was achieved three months later. At 16 months of age, both echocardiography and electrocardiography were normal.

Severe intracranial haemorrhage in neonatal alloimmune thrombocytopenia due to antibodies against human platelet antigen 1b: Case report and literature review.

Fetal/neonatal alloimmune thrombocytopenia (FNAIT) is a rare life-threatening disorder, leading to severe thrombocytopenia and potentially bleeding, with intracranial haemorrhage (ICH) being the most serious complication. We report on a FNAIT case with fourth-degree ICH that arose due to antibodies against human platelet antigen (HPA)-1b. The male infant, born to an otherwise healthy mother, presented with severe signs of ICH soon after delivery. Since only moderate thrombocytopenia was noted and there were no active signs of bleeding, the infant did not receive intravenous immunoglobulins (IVIg) or platelet transfusion. Spontaneous recovery of platelets was noted on the eighth day of life, but permanent neurological impairment remained as a consequence of ICH. We report the results of HPA and human leukocyte antigen (HLA) antibodies in the mother's and the infant's sera, the family's HPA genotype and the mother's HLA genotype, and summarise previously described cases of FNAIT due to anti-HPA-1b antibodies in the literature. FNAIT with severe ICH due to anti-HPA-1b antibodies is rarely diagnosed. An association between HLA genes and sensitization to HPA-1b antibodies was not demonstrated. The severity of FNAIT and the occurrence of ICH is often difficult to predict. In this case, the infant presented with moderate thrombocytopenia and ICH, with subsequent permanent consequences.

The visibility of the periventricular crossroads of pathways in preterm infants as a predictor of neurological outcome and occurrence of neonatal epileptic seizures.

AIM: To evaluate the relationship between the neurological outcome, neonatal epileptic seizures, and signal-intensity visibility of the frontal and parietal periventricular crossroads of pathways on brain magnetic resonance imaging (MRI) in preterm infants at term-equivalent age. METHODS: The study enrolled 48 preterm infants born between 2012 and 2016. The signal-intensity characteristics of the frontal and parietal periventricular crossroads were evaluated and classified into four grades. A non-favorable outcome was defined as a motor and functional disorder with developmental delay and/or cerebral palsy. RESULTS: Neonatal seizures, epilepsy, pathological EEG and brain ultrasound finding, and brain MRI abnormalities were mostly found in neonates with non-favorable outcomes. Visible frontal and parietal periventricular crossroads were associated with a normal neurologic outcome (P=0.0004; P=0.0009, respectively). Not-visible or slightly visible periventricular crossroads were associated with non-favorable outcomes in the case of frontal crossroads (P=0.036) and not-visible periventricular crossroads in the case of both frontal and parietal crossroads (P=0.001, P=0.015, respectively). The visibility of the frontal and parietal periventricular crossroads was associated with a lack of neonatal epileptic seizures (P=0.03; P=0.02, respectively). The frontal crossroads were more frequently slightly visible, while the parietal periventricular crossroads were more frequently visible. CONCLUSION: Poor visibility of the frontal and parietal crossroads of pathways on MRI is associated with neonatal epileptic seizures and poor neurological outcomes in preterm infants at term-equivalent age.

Transient structural MRI patterns correlate with the motor functions in preterm infants.

AIM: To explore the relationships between transient structural brain patterns on MRI at preterm and at term-equivalent age (TEA) as a predictor of general movements (GMs) and motor development at 1-year corrected age (CA) in very preterm infants. METHODS: In this prospective study, 30 very preterm infants (median = 28wks; 16 males) had structural magnetic resonance imaging (MRI) at preterm (median = 31wks + 6d) and at TEA (median = 40wks) and neuromotor assessments. The quality of GMs was assessed by Prechtl's general movements assessment and a detailed analysis of the motor repertoire was performed by calculating a motor optimality score (MOS), both at term age and at 3 months post-term. Motor development at 1-year CA was evaluated with the Infant Motor Profile (IMP). Associations between qualitative MRI findings and neuromotor scores were investigated. RESULTS: Abnormal GMs and low motor performance at 1-year CA were associated with the poor visibility of transient structural pattern, that is with sagittal strata. INTERPRETATION: Transient structural MRI pattern, sagittal strata, at preterm age is related to the quality of GMs and later motor development in preterm infants. This transient fetal brain compartment may be considered as a component of neurobiological basis for early neuromotor behavior, as expressed by GMs.

Successful separation of xypho-omphalopagus conjoined twins with extrauterine twin-twin transfusion syndrome: a case report.

Conjoined twining is a rare medical phenomenon, with an overall prevalence of 1.47 per 100 000 births. This report describes a successful separation of xypho-omphalopagus conjoined twins complicated by unbalanced blood shunting through the porto-systemic anastomoses within the shared liver parenchyma. Significant extrauterine twin-twin transfusion syndrome caused by unbalanced shunting is an extremely rare, and probably under-recognized, hemodynamic complication in conjoined twins necessitating urgent separation. Progressive deterioration with a poor outcome can be prevented if the condition is recognized in a timely manner.

The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.

BACKGROUND: Hyperammonemic encephalopathy in newborns with urea cycle disorders and certain organic acidurias can cause severe brain injury, coma and death. Standard therapy includes protein restriction, nitrogen-scavenging drugs, prevention of catabolism and hemodialysis. Neuroprotective hypothermia as part of the treatment has been reported only 3 times. It has been suggested that mild systemic hypothermia can contribute to better neurological outcomes in hyperammonemic encephalopathy. However, the limited experience precludes accurate conclusions on safety and efficacy. METHODS: Whole body therapeutic hypothermia was included in the standard treatment of hyperammonemic encephalopathy in 4 neonates with urea cycle disorder or organic aciduria. RESULTS: Two patients survived the initial crisis. One patient has a developmental quotient of 0.8, while the other shows severe developmental delay. The cooling protocol had to be discontinued in 3 patients due to the otherwise untreatable complications (hypotension and hemorrhage). CONCLUSION: The efficacy and safety of therapeutic hypothermia in the treatment of neonatal hyperammonemic encephalopathy depend on various factors, requiring further evaluation.

Incidence of congenital diaphragmatic hernia in Olmsted County, Minnesota: a population-based study.

OBJECTIVE: The rate of congenital diaphragmatic hernia (CDH) varies, but most reports estimate the incidence to be less than three per 10,000 births. Our objective was to document the incidence of CDH in a geographically well-defined population using available resources for highly accurate incident case ascertainment. METHODS: We ascertained CDH cases in Olmsted County, Minnesota, United States of America, from 1981 through 2014 using resources of the Rochester Epidemiology Project. Overall and sex-specific incidence rates were calculated, and hospital survival was assessed. RESULTS: A total of 26 incident CDH cases were identified; the overall incidence of 3.6 (95% CI, 2.2-5.0) per 10,000 did not differ significantly over the 34-year study period (p = .28). The estimated incidence was 4.3 (95% CI, 2.2-6.5) for male infants and 2.9 (95% CI, 1.1-4.6) for female infants. The percentage of cases diagnosed prenatally was 33% from 1981 through 2000 and 50% from 2001 through 2014. The rate of survival to discharge in the two periods was 50% and 88%. CONCLUSION: The incidence of CDH in Olmsted County exceeds the majority of published rates, which most likely can be attributed to our comprehensive case ascertainment.

Health-related quality of life in children and adolescents with congenital diaphragmatic hernia: a cross-sectional study.

BACKGROUND: Patients with congenital diaphragmatic hernia (CDH) have a high residual morbidity rate. We compared self-reported health-related quality of life (HRQoL) between patients with CDH and healthy children. METHODS: Forty-five patients with CDH who were born from January 1, 1990, through February 15, 2015, were matched to healthy, age-matched control participants at a 1:2 ratio. The health records of the study participants were reviewed to determine comorbid conditions, and HRQoL was assessed by both the participants and their parents with the Pediatric Quality of Life Inventory (PedsQL). The HRQoL scores of the patients with CDH and the control participants were compared by using analysis of variance to adjust for age group and sex. Among patients with CDH, analysis of variance was used to compare HRQoL scores across groups defined according to their characteristics at initial hospitalization, postdischarge events, and comorbid conditions. RESULTS: Compared with control participants, patients with CDH had lower mean PedsQL scores, as reported by the parent and child, for the physical and psychosocial domains (P < 0.001). Risk factors associated with lower parent-reported HRQoL included bronchopulmonary dysplasia, longer initial hospitalization, severe cognitive impairment, and orthopedic symptoms; among patients with CDH, low HRQoL was associated with chronic respiratory issues. CONCLUSION: Patients with CDH had lower HRQoL compared with healthy participants. Parent-reported HRQoL tended to be higher than child-reported HRQoL. Results were also inconsistent for the risk factors associated with HRQoL obtained by using child- and parent-reported scores. Therefore, when interpreting HRQoL in CDH survivors, a proxy report should not be considered a substitute for a child's self-report.

Congenital Diaphragmatic Hernia: The Side of Diaphragmatic Defect and Associated Nondiaphragmatic Malformations.

Background Congenital diaphragmatic hernia (CDH) has different clinical presentations depending on whether it is right sided (R-CDH) or left sided (L-CDH). Some have suggested that L-CDH and R-CDH may represent different syndromic phenotypes. This theory would be indirectly supported if different nondiaphragmatic anomalies were associated with laterality. We assessed whether CDH laterality is associated with specific types of nondiaphragmatic anomalies. Methods Cases of CDH were retrospectively identified from five centers, and associated congenital anomalies, prenatal diagnosis, demographics, birth characteristics, and side of the CDH were analyzed. CDH characteristics were summarized according to the absence (isolated) or presence (complex) of nondiaphragmatic malformations. Results Among 228 neonates with CDH, 140 (61%) had isolated CDH and 88 (39%) had complex CDH. Complex CDH was significantly associated with being small for gestational age (odds ratio [95% confidence interval, CI]: 8.3 [1.9-35.7]; p = 0.005) and having L-CDH (odds ratio [95% CI]: 3.6 [1.5-8.9]; p = 0.005). The overall proportion with anomalies differed by side (42% for L-CDH, 23% for R-CDH; p = 0.02), but the rates of anomalies in specific organ systems did not differ. Conclusion The rate of associated nondiaphragmatic anomalies by specific organ system did not differ between L-CDH and R-CDH, which suggests that they represent the same phenotypic entity.

Congenital diaphragmatic hernia: outcomes of neonates treated at Mayo Clinic with and without extracorporeal membrane oxygenation.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a rare anomaly with high mortality and long-term comorbid conditions. AIMS: Our aim was to describe the presenting characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. METHODS: We performed a retrospective cohort study and identified consecutive neonates treated for CDH from 2001 to 2015 at our institution. For all patients identified, we reviewed hospital and postdischarge data for neonatal, disease, and treatment characteristics. We determined hospital survival overall and also according to the presence of prenatal diagnosis, liver herniation into the chest (liver up), and the use of extracorporeal membrane oxygenation (ECMO) in addition to surgery. We evaluated postdischarge chronic conditions in patients with at least one year of follow-up. RESULTS: Thirty-eight neonates were admitted for treatment during the study period. In three who were in extremis, life support was withdrawn. The other 35 underwent surgical repair, of whom eight received ECMO. The overall survival was 79% (30/38). Survival for those who had surgical correction of CDH but did not need ECMO was 89% (24/27); it was 75% (6/8) for those who received ECMO and had surgery. Hospital survival was lower for liver-up vs liver-down CDH (61% [11/18] vs 95% [19/20]; odds ratio, 0.08; 95% CI, 0.01-0.77; P = 0.01). Among survivors, the median duration of hospitalization was 31 (interquartile range, 20-73) days. Major chronic pulmonary and gastrointestinal disorders, failure to thrive, and neurodevelopmental delays were the most noted comorbid conditions after discharge, and all were more prevalent in those who required ECMO. CONCLUSION: The overall survival of neonates with CDH was 79%. Intrathoracic liver herniation was associated with more frequent use of ECMO and greater mortality. A substantial number of survivors, especially those who required ECMO, experienced chronic conditions after discharge.

Hernia Sac Presence Portends Better Survivability of Isolated Congenital Diaphragmatic Hernia with "Liver-Up".

Objective The objective of this study was to investigate the prognostic value of a hernia sac in isolated congenital diaphragmatic hernia (CDH) with intrathoracic liver herniation ("liver-up"). Study Design A retrospective study from the single tertiary center. Isolated "liver-up" CDH neonates referred to our institution between 2000 and 2015 were reviewed for the presence or absence of a hernia sac. Association between the presence of a hernia sac and survival was assessed. Results Over the study period, there were 29 isolated CDH patients with "liver-up" who were treated, 7 (24%) had a sac, and 22 (76%) did not. Demographics were similar between groups. However, disease acuity, assessed from lower Apgar scores (p = 0.044), lower probability of survival (p = 0.037), and lower admission oxygenation (p = 0.027), was higher in neonates without a sac. Hospital survival was significantly higher for those with sac compared with those without (7/7, 100 vs. 7/22, 32%, p = 0.002). Conclusion The presence of a hernia sac may be associated with better survival for isolated "liver-up" CDH. As the presence of sac can be prenatally detected, it may be a useful marker to aid perinatal decision making.

Postoperative Gastric Perforation in a Newborn with Duodenal Atresia.

Gastric perforation (GP) in neonates is a rare entity with high mortality. Although the etiology is not completely understood, it mostly occurs in premature neonates on assisted ventilation. Combination of duodenal atresia and gastric perforation is very rare. We present a case duodenal atresia who developed gastric perforation after operetion for duodenal atresia. Analysis of the patient medical record and histology report did not reveal the etiology of the perforation.

Neurocognitive outcomes in congenital diaphragmatic hernia survivors: a cross-sectional prospective study.

BACKGROUND/PURPOSE: Congenital diaphragmatic hernia (CDH) survivors may have persistent neurocognitive delays. We assessed neurodevelopmental outcomes in CDH survivors from infancy to late teenage years. METHODS: A cross-sectional study was conducted on 37 CDH survivors to examine neurocognitive functioning. Overall cognitive score was tested with the early learning composite (ELC) of Mullen Scales of Early Learning (n=19), and Full Scale IQ (FSIQ) of Wechsler Intelligence Scale for Children-Fourth Edition (n=18). RESULTS: ELC was 85.7±16.4, lower than the expected norm of 100, P=0.004, and 6 survivors had moderate, and 3 severe delay, which is not greater than expected in the general population (P=0.148). FSIQ was 99.6±19.1, consistent with the expected norm of 100, P=0.922, and 3 survivors had moderate and 2 severe delay, which is greater than expected (P=0.048). Although ELC was lower than FSIQ (P=0.024), within each testing group overall cognitive ability was not associated with participant age (ELC, P=0.732; FSIQ, P=0.909). Longer hospital stay was the only factor found to be consistently associated with a worse cognitive score across all participants in our cohort. CONCLUSIONS: A high percentage of survivors with CDH have moderate to severe cognitive impairment suggesting that these subjects warrant early testing with implementation of therapeutic and educational interventions.

Survival prediction of high-risk outborn neonates with congenital diaphragmatic hernia from capillary blood gases.

BACKGROUND: The extent of lung hypoplasia in neonates with congenital diaphragmatic hernia (CDH) can be assessed from gas exchange. We examined the role of preductal capillary blood gases in prognosticating outcome in patients with CDH. METHODS: We retrospectively reviewed demographic data, disease characteristics, and preductal capillary blood gases on admission and within 24 h following admission for 44 high-risk outborn neonates. All neonates were intubated after delivery due to acute respiratory distress, and were emergently transferred via ground ambulance to our unit between 1/2000 and 12/2014. The main outcome measure was survival to hospital discharge and explanatory variables of interest were preductal capillary blood gases obtained on admission and during the first 24 h following admission. RESULTS: Higher ratio of preductal partial pressure of oxygen to fraction of inspired oxygen (PcO2/FIO2) on admission predicted survival (AUC = 0.69, P = 0.04). However, some neonates substantially improve PcO2/FIO2 following initiation of treatment. Among neonates who survived at least 24 h, the highest preductal PcO2/FIO2 achieved in the initial 24 h was the strongest predictor of survival (AUC = 0.87, P = 0.002). Nonsurvivors had a mean admission preductal PcCO2 higher than survivors (91 ± 31 vs. 70 ± 25 mmHg, P = 0.02), and their PcCO2 remained high during the first 24 h of treatment. CONCLUSION: The inability to achieve adequate gas exchange within 24 h of initiation of intensive care treatment is an ominous sign in high-risk outborn neonates with CDH. We suggest that improvement of oxygenation during the first 24 h, along with other relevant clinical signs, should be used when making decisions regarding treatment options in these critically ill neonates.

Cardiopulmonary exercise performance is reduced in congenital diaphragmatic hernia survivors.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is associated with lung hypoplasia. CDH survivors may have pulmonary morbidity that can decrease cardiopulmonary exercise. We aimed to examine whether cardiopulmonary exercise testing (CPET) results differ in CDH survivors versus healthy age-matched controls and whether CPET results among CDH survivors differ according to self-reported daily activity. METHODS: In one medical center in Croatia, CDH survivors-patients with surgically corrected CDH who were alive at age 5 years-were invited to participate in spirometry and CPET. Values were compared with those of controls matched 2:1 by age and sex for each CDH survivor aged 7 years or older. RESULTS: Among 27 CDH survivors aged 5-20 years, 13 (48%) had continued symptoms or spirometric evidence of pulmonary disease. Compared with controls (n = 44), survivors (n = 22) had lower peak oxygen consumption (V˙O2 mean [SD], 35.7 [6.9] vs. 45.3 [8.2] ml/kg per min; P < 0.001). At peak exercise, V˙O2/heart rate (P < 0.001), tidal volume (P = 0.005), and minute ventilation (P < 0.001) were lower in survivors, but the maximal respiratory rate was not different (P = 0.72). Among survivors, mean (SD) V˙O2peak (ml/kg per min) differed by self-reported activity level: athletic, 40.3 (5.0); normal, 35.8 (6.5); and sedentary, 32.1 (6.8) (by ANOVA, P = 0.10 across three groups and P = 0.04 athletic vs. sedentary). CONCLUSION: More than half of CDH survivors continue to have chronic pulmonary disease. CDH survivors had lower aerobic exercise capacity than controls. Self-reporting information on daily activities may identify CDH patients with low V˙O2max who may benefit from physical training. Pediatr Pulmonol. 2016;51:1320-1329. © 2016 Wiley Periodicals, Inc.

Epidemiology and Outcomes of Congenital Diaphragmatic Hernia in Croatia: A Population-Based Study.

BACKGROUND: Outcomes of neonates with congenital diaphragmatic hernia (CDH) are variable; reports are frequently limited to the experience of single tertiary care centres-a possible source of bias. Population-based studies decrease survivor bias and provide additional insight into this high-mortality condition. The objective of this study was to examine the incidence and outcomes of CDH in Croatia. METHODS: All cases of CDH in Croatia from 2001 through 2013 were ascertained from public health records. Overall and sex- and region-specific incidence rates were calculated, and characteristics associated with 1-year survival were assessed. RESULTS: We identified 145 cases of CDH during the study period, for an incidence of 2.67 per 10 000 total births. The incidence did not differ by calendar year (P = 0.38) or geographic region (P = 0.67). There was a slightly higher incidence among males (rate ratio, 1.37, 95% CI 0.99, 1.91). The 1-year survival rate was 33.1% for the entire cohort and 47.9% for liveborns who received any treatment at an intensive care unit. From multivariable analysis, survival was decreased in neonates with left CDH, liver up (odds ratio 0.1, 95% CI, 0.03, 0.4) and increased when treated in a centre with higher case volume (odds ratio 12.8, 95% CI, 2.2, 72.1). CONCLUSIONS: The incidence of CDH in Croatia is within the range of previous reports. Survival was substantially higher in neonates treated in a centre with higher case volume, which suggests that centralisation of medical care for CDH may be warranted in Croatia.

Perinatal Health Statistics as the Basis for Perinatal Quality Assessment in Croatia.

CONTEXT: Perinatal mortality indicators are considered the most important measures of perinatal outcome. The indicators reliability depends on births and deaths reporting and recording. Many publications focus on perinatal deaths underreporting and misclassification, disabling proper international comparisons. OBJECTIVE: Description of perinatal health care quality assessment key indicators in Croatia. METHODS: Retrospective review of reports from all maternities from 2001 to 2014. RESULTS: According to reporting criteria for birth weight ≥500 g, perinatal mortality (PNM) was reduced by 31%, fetal mortality (FM) by 32%, and early neonatal mortality (ENM) by 29%. According to reporting criteria for ≥1000 g, PNM was reduced by 43%, FM by 36%, and ENM by 54%. PNM in ≥22 weeks' (wks) gestational age (GA) was reduced by 28%, FM by 30%, and ENM by 26%. The proportion of FM at 32-36 wks GA and at term was the highest between all GA subgroups, as opposed to ENM with the highest proportion in 22-27 wks GA. Through the period, the maternal mortality ratio varied from 2.4 to 14.3/100,000 live births. The process indicators have been increased in number by more than half since 2001, the caesarean deliveries from 11.9% in 2001 to 19.6% in 2014. CONCLUSIONS: The comprehensive perinatal health monitoring represents the basis for the perinatal quality assessment.

Survival of outborns with congenital diaphragmatic hernia: the role of protective ventilation, early presentation and transport distance: a retrospective cohort study.

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a congenital malformation associated with life-threatening pulmonary dysfunction and high neonatal mortality. Outcomes are improved with protective ventilation, less severe pulmonary pathology, and the proximity of the treating center to the site of delivery. The major CDH treatment center in Croatia lacks a maternity ward, thus all CDH patients are transferred from local Zagreb hospitals or remote areas (outborns). In 2000 this center adopted protective ventilation for CDH management. In the present study we assess the roles of protective ventilation, transport distance, and severity of pulmonary pathology on survival of neonates with CDH. METHODS: The study was divided into Epoch I, (1990-1999, traditional ventilation to achieve normocapnia), and Epoch II, (2000-2014, protective ventilation with permissive hypercapnia). Patients were categorized by transfer distance (local hospital or remote locations) and by acuity of respiratory distress after delivery (early presentation-occurring at birth, or late presentation, ≥ 6 h after delivery). Survival between epochs, types of transfers, and acuity of presentation were assessed. An additional analysis was assessed for the potential association between survival and end-capillary blood CO2 (PcCO2), an indirect measure of pulmonary pathology. RESULTS: There were 83 neonates, 26 in Epoch I, and 57 in Epoch II. In Epoch I 11 patients (42%) survived, and in Epoch II 38 (67%) (P = 0.039). Survival with early presentation (N = 63) was 48 % and with late presentation 95% (P <0.001). Among early presentation, survival was higher in Epoch II vs. Epoch I (57% vs. 26%, P = 0.031). From multiple logistic regression analysis restricted to neonates with early presentation and adjusting for severity of disease, survival was improved in Epoch II (OR 4.8, 95%CI 1.3-18.0, P = 0.019). Survival was unrelated to distance of transfer but improved with lower partial pressure of PcCO2 on admission (OR 1.16, 95%CI 1.01-1.33 per 5 mmHg decrease, P = 0.031). CONCLUSIONS: The introduction of protective ventilation was associated with improved survival in neonates with early presentation. Survival did not differ between local and remote transfers, but primarily depended on severity of pulmonary pathology as inferred from admission capillary PcCO2.