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.
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.
•PJRT in fetal period can occur even at normal fetal heart rate.•Fetal dilative cardiomyopathy and hydrops should lead to a suspicion for PJRT.•Early recognition of PJRT can be facilitated by typical postnatal ECG patterns.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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