Neurodevelopmental Outcome at Two Years for Preterm Infants With Intraventricular Hemorrhage: A Case-Control Study.

BACKGROUND: High-grade intraventricular hemorrhage (IVH), including grade III and grade IV IVH, is known to impact neurodevelopmental outcome of preterm infants, but prognosis remains difficult to establish due to confounding factors and significant variations in the reported outcomes. The aim of this study was to compare the neurodevelopmental outcome of preterm infants with or without severe IVH. METHODS: A retrospective case-control study was conducted including preterm infants with gestational age <32 weeks hospitalized between 2009 and 2017 in a level III neonatal intensive care unit. This study included 73 cases with high-grade IVH and 73 controls who were matched to cases, based on the same gestational age, birth weight, sex, and year of birth. The neurodevelopmental outcome was compared at two years of age corrected for prematurity between cases and controls. Neurodevelopmental impairment was defined as cerebral palsy, hearing deficiency, visual impairment, or developmental delay. Multivariate analysis was used to identify whether high-grade IVH was an independent risk factor for neurodevelopmental impairment. RESULTS: In univariate analysis, high-grade IVH was associated with death or poor neurodevelopmental outcome at two years of age corrected for prematurity (odds ratio [OR], 16.3; 95% confidence interval [CI], 5.93 to 57.8; P < 0.001), and this association remained significant after adjusting for confounding factors including neonatal infection and bronchopulmonary dysplasia in multivariate analysis (OR, 8.71; 95% CI, 2.48 to 38.09; P = 0.002). CONCLUSIONS: This study highlights the impact of high-grade IVH as an independent risk factor of poor neurodevelopmental outcomes in very preterm infants and suggests that early interventions could improve the prognosis of these infants.

Transcatheter closure of patent ductus arteriosus in preterm infants: results from a single-center cohort.

Objective: To assess the success rate of patent ductus arteriosus (PDA) transcatheter closure in preterm infants and to describe the nature of procedural adverse events and short-term clinical status. Study design: All the preterm infants with PDA transcatheter closure were evaluated retrospectively between July 2019 and March 2023 in a single level III neonatal intensive care unit in France. The procedure was performed in the catheterization laboratory using venous canulation. We retrospectively collected data about the patients' characteristics, procedural outcomes and complications. Results: Twenty-five infants born between 23.4 and 32.0 weeks of gestational age (mean ± SD 26.3 ± 1.9 weeks) underwent transcatheter PDA closure. Their mean age and weight at the time of the procedure were 52 days (range 22-146 days) and 1,620 g (range 890-3,700 g), respectively. Successful closure was achieved in all but one patient. Procedure related complications were reported in 10 infants (40%), including 6 left pulmonary artery stenosis one of which required a balloon dilatation, two cardiac tamponades and two inferior vena cava thrombosis. Only two post-ligature syndromes occurred after the procedure. Two infants died one of which was related to the procedure. Conclusion: Transcatheter closure of a PDA is a valid alternative to surgical ligation due to its high success rate and low incidence of post-ligature syndrome. Nevertheless, we also report rare, although serious complications.

Early Adjuvant Medication With the mTOR Inhibitor Sirolimus in a Preterm Neonate With Compressive Cystic Lymphatic Malformation.

Cystic lymphatic malformations result from an abnormal embryological development of the lymphatic structures. Here we report on a case of a preterm female baby, born at 34 weeks of gestation, with a voluminous cervicofacial cystic lymphatic malformation responsible for an airway obstruction. An mTOR inhibitor, sirolimus, was started from the first day of life, and was combined with iterative sclerotherapy procedures. This case illustrates a safe and successful early administration of sirolimus in a preterm neonate.

Presacral Medulloepithelioma: Case Report and Literature Review.

Medulloepithelioma is a rare early childhood tumor typically presenting in the intraocular region and neuroaxis. We report a rare case of a 2-year-old girl that presented with a peripheral medulloepithelioma in the presacral region. Examination of the tumor revealed that it lacked amplification of the 19q13.42 locus yet was positive for LIN28A. The patient was treated with intensive and high-dose chemotherapy as per 99703 protocol followed by complete surgical resection of the tumor and rapamycin maintenance and remains disease-free 5 years postinitial diagnosis. Ten previous cases were reported, including 5 patients who were alive disease free at the time of the publication. Optimal management of this rare condition is still controversial, particularly with regard to the respective role of chemotherapy and radiation.

Therapeutic and Prognostic Implications of BRAF V600E in Pediatric Low-Grade Gliomas.

Purpose BRAF V600E is a potentially highly targetable mutation detected in a subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group of tumors remains unknown. Patients and Methods A combined clinical and genetic institutional study of patients with PLGGs with long-term follow-up was performed (N = 510). Clinical and treatment data of patients with BRAF V600E mutated PLGG (n = 99) were compared with a large international independent cohort of patients with BRAF V600E mutated-PLGG (n = 180). Results BRAF V600E mutation was detected in 69 of 405 patients (17%) with PLGG across a broad spectrum of histologies and sites, including midline locations, which are not often routinely biopsied in clinical practice. Patients with BRAF V600E PLGG exhibited poor outcomes after chemotherapy and radiation therapies that resulted in a 10-year progression-free survival of 27% (95% CI, 12.1% to 41.9%) and 60.2% (95% CI, 53.3% to 67.1%) for BRAF V600E and wild-type PLGG, respectively ( P < .001). Additional multivariable clinical and molecular stratification revealed that the extent of resection and CDKN2A deletion contributed independently to poor outcome in BRAF V600E PLGG. A similar independent role for CDKN2A and resection on outcome were observed in the independent cohort. Quantitative imaging analysis revealed progressive disease and a lack of response to conventional chemotherapy in most patients with BRAF V600E PLGG. Conclusion BRAF V600E PLGG constitutes a distinct entity with poor prognosis when treated with current adjuvant therapy.