Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature. ß

Coronavirus disease, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is mainly transmitted through droplets, but other ways of transmission have been hypothesized. We report a case of vertical transmission of SARS-CoV-2 in a preterm born to an infected mother, confirmed by the presence of the virus in the neonatal blood, nasopharyngeal and oropharyngeal swabs collected in the first half an hour of life. The neonate presented with acute respiratory distress, similar to the findings in severely affected adults. This case highlights the importance of pregnancy, labor and neonatal period surveillance of affected mothers and their newborns.

Infections due to carbapenemase-producing Enterobacterales (CPE) are increasing worldwide and are especially concerning in a neonatal intensive care unit (NICU). Risk factors for CPE gut colonization in neonates need to be clarified. In this work, we describe the epidemiological and clinical features of CPE-colonized newborns and the infection control measures in a Portuguese NICU. We performed a prospective, observational, longitudinal, cohort study for surveillance of CPE colonization. Maternal and neonatal features of colonized newborns and surveillance strategy were described. A statistical analysis was performed with SPSS23.0, and significance was indicated by p-value ≤ 0.05. Between March and November 2019, CPE was isolated in 5.8% of 173 admitted neonates. Carbapenemase-producing Klebsiella pneumoniae were the most frequently isolated. There was no associated infection. Birth weight, gestational age, length of stay, and days of central line were the identified risk factors for CPE colonization (bivariate analysis with Student’s t-test or Mann–Whitney U test, according to normality). No independent risk factors for CPE colonization were identified in the logistic regression analysis. CPE colonization risk factors are still to be determined accurately in the neonatal population. Active surveillance and continuous infection control measures restrained the current cluster of colonized newborns and helped to prevent infection and future outbreaks.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection all over the world. Its prevalence ranges from 0.2 to 2.2%. Transmission from children to their pregnant mothers is a well-known risk factor, particularly if they attend a childcare centre. This study aims to compare the prevalence of CMV congenital infection (CMV_CI) in Portugal (Lisbon) between two studies, performed respectively in 2019 and 2020. In the 2019 study, performed in two hospitals, we found a 0.67% CMV_CI prevalence, using a pool strategy previously tested with saliva samples. In the 2020 study, using the same pool approach in four hospitals (the previous and two additional), and based on 1277 samples, the prevalence was 0.078%. Conclusion:The close temporal coincidence with COVID-19 lockdown suggests that these measures may have had a significant impact on this reduction, although other explanations cannot be ruled-out. What is Known:• Cytomegalovirus is the leading cause of congenital infection.• Behavioural measures decrease cytomegalovirus seroconversion in pregnant women.

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