Noonan syndrome is a relatively common and heterogeneous genetic disorder, including congenital heart defect in more than half of the cases. If the defect is not large, life expectancy is normal. Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation in the KRAS gene. This heterozygous unclassified missense variant in exon 3: c.179G>T (p.Gly60Val) might be associated with a lethal form of Noonan syndrome. The malignant clinical course of the disease and the lethal outcome in an infant only a few months old might be connected to RAS-mitogen-activated protein kinase pathway hyperactivation, consequently promoting cell growth and proliferation, leading to rapidly progressive hypertrophic cardiomyopathy. Further biochemical and functional studies are needed to confirm this hypothesis.

Neonatal exanthema and hematochezia were the predominant clinical signs in neonates with CMA. Allergies to other food allergens appeared more frequently in children with CMA in the neonatal period. Neonatal CMA did not occur more frequently in families with food allergies.

Background: Streptococcus agalactiae (group B streptococcus, GBS) is the leading cause of invasive neonatal infections in the developed world. We present epidemiological and clinical characteristics of invasive GBS disease among Slovenian neonates between 2003 and 2013.Methods: A retrospective cohort study was performed. Children aged 0–90 days with invasive GBS disease, born in Slovenia and hospitalized in the University Medical Centre Ljubljana were included. Cases were identified concurrently from (i) hospital and (ii) microbiological databases. Medical records from mothers and children were reviewed and relevant data extracted. The incidence rate was calculated based on the national vital statistics data and expressed per 1000 live births.Results: Altogether, 144 children were included in the analysis, 72.9 % (n = 105) based on hospital database and 27.1 % (n = 39) based on microbiological database. Among them, 47.9 % (n = 69) were girls and 52.1 % (n = 75) boys. Among the cases with available data, 54.5 % (n = 73) were born at term and 45.5 % (n = 61) were preterm. Early-onset disease (0–6 days) was present in 74.3 % (n = 107) of patients; 95.3 % (n = 102) of them became ill during the first 3 days of life. Late-onset disease (7–90 days) was present in 25.7 % (n = 37) of patients. Outcome data was available for 134 children. Neonatal mortality rate was 4.5 % (n = 6). Periventricular leukomalacia (PVL) or intraventricular haemorrhages Grade III/IV (IVH 3/4) were detected in 17.9 % (n = 24). Severe outcomes (death or PVL or IVH 3/4) were detected in 22.4 % (n = 30) children. Cumulative incidence rate was 0.72/1000 live births; 0.53/1000 for early-onset and 0.18/1000 for late-onset disease. Risk factors for early-onset disease were present in 47.9 % (n = 68) mothers in labour. Intrapartum antibiotic prophylaxis was delivered to 16.9 % (n = 24) of mothers.Conclusions: High incidence of invasive neonatal GBS disease was detected in Slovenia. Although low mortality was observed, brain pathology concordant with long-term adverse outcome was confirmed in a high proportion of patients. The application of intrapartum antibiotic prophylaxis in cases of known risk factors was suboptimal, especially among preterm deliveries. Approximately half of the patients were born to mothers without any risk factors. A comprehensive national strategy for the prevention of invasive GBS disease is warranted in Slovenia.

AimTo identify the epidemiological and clinical features of acute viral lower respiratory tract infections (LRTI) caused by respiratory syncytial virus and other respiratory viruses, and to determine the risk factors for the severe disease among neonates. MethodsWe retrospectively reviewed the records of neonates aged up to 44 postconceptional weeks who were hospitalized at a tertiary referral hospital due to confirmed viral LRTI between January 2015 and December 2020. ResultsOf 228 neonates with viral LRTI, one-third were born prematurely. A seasonal distribution of LRTIs from December to March was noticed, peaking in February. Forty-two percent of neonates were treated in the neonatal intensive care unit. One third of these presented with complications and needed mechanical ventilation. The most detected viruses were respiratory syncytial virus and rhinovirus. Prematurity was identified as a risk factor for worse clinical course and more complications, while rhinovirus infection was associated with an increased risk of apnea. ConclusionsThe burden of respiratory syncytial virus LRTI in the neonatal period is high, although other respiratory viruses can also cause a severe respiratory disease. In preterm infants, rhinovirus infection presents an important risk factor for a severe course of LRTI with complications. Infection with two respiratory viruses leads to a more severe clinical course.

Slovenian UC care follows the general international recommendations. Based on these and our experience, we formulated recommendations for adjustments to UC care, depending on the clinical condition of the umbilicus, in order to prevent important complications.