A recent outbreak of a novel Coronavirus responsible for a Severe Acute Respiratory Syndrome (SARS-CoV-2) is spreading globally. The aim of this study was to systematically review main clinical characteristics and outcomes of SARS-CoV-2 infections in pediatric age. An electronic search was conducted in PubMed database. Papers published between 1 January and 1 May 2020 including children aged 0-18 years were selected. Sixty-two studies and three reviews were included, with a total sample size of 7480 children (2428/4660 males, 52.1%; weighted mean age 7.6 years). Patients showed mainly mild (608/1432, 42.5%) and moderate (567/1432, 39.6%) signs of the infection. About 2% of children were admitted to the pediatric intensive care unit. The most commonly described symptoms were fever (51.6%) and cough (47.3%). Laboratory findings were often unremarkable. Children underwent a chest CT scan in 73.9% of all cases, and 32.7% resulted normal. Overall, the estimated mortality was 0.08%. A higher proportion of newborns was severely ill (12%) and dyspnea was the most common reported sign (40%). Conclusion: SARS-CoV-2 affects children less severely than adults. Laboratory and radiology findings are mainly nonspecific. Larger epidemiological and clinical cohort studies are needed to better understand possible implications of COVID-19 infection in children. What is Known: • A novel Coronavirus has been recently identified as responsible for a new Severe Acute Respiratory Syndrome (SARS-CoV-2) spreading globally. • There is limited evidence on SARS-CoV2 infection in children. What is New: • Systematically reviewed available evidence showed that children with SARS-CoV-2 infection may have a less severe pattern of disease in comparison to adults. • Blood tests and radiology findings are mainly nonspecific in children but may help to identify those who are severely ill.

A recent outbreak of a novel Coronavirus responsible for a Severe Acute Respiratory Syndrome (SARS-CoV-2) is spreading globally. The aim of this study was to systematically review the existing evidence on SARS-CoV-2 infections in pediatric age.An electronic search was conducted in PubMed database. Papers published between the 1st of January and the 7th of April, 2020 including children aged 0-18 years were selected. Fifty-two studies and two reviews were included, with a total sample size of 4.612 children (2.366 males, 51.3%, weighted mean age 7 years). Patients showed mainly mild (1285/2679, 48.5%) and moderate (1035/2679, 39.1%) signs of the infection. Less than 2% of children were admitted to the Pediatric Intensive Care Unit. The most commonly described symptoms were fever (49.2%) and cough (44.1%). Laboratory findings were often unremarkable. Children underwent a chest CT-scan in 85.7% of all cases, and 36% resulted normal. Overall, the estimated mortality was 0.07%. A higher proportion of newborns was severely ill (17%) and dyspnea was the commonest reported sign (40%). Conclusion: SARS-CoV-2 affects children less severely than adults. Laboratory and radiology findings are mainly nonspecific. Larger epidemiological and clinical cohort studies are needed to better understand possible implications of COVID-19 infection in children.

ObjectiveWe aim to formulate evidence-based recommendations to assist physicians decision-making in the assessment and management of children younger than 16 years presenting to the emergency department (ED) following a blunt head trauma with no suspicion of non-accidental injury.MethodsThese guidelines were commissioned by the Italian Society of Pediatric Emergency Medicine and include a systematic review and analysis of the literature published since 2005. Physicians with expertise and experience in the fields of pediatrics, pediatric emergency medicine, pediatric intensive care, neurosurgery and neuroradiology, as well as an experienced pediatric nurse and a parent representative were the components of the guidelines working group.Areas of direct interest included 1) initial assessment and stabilization in the ED, 2) diagnosis of clinically important traumatic brain injury in the ED, 3) management and disposition in the ED. The guidelines do not provide specific guidance on the identification and management of possible associated cervical spine injuries. Other exclusions are noted in the full text.ConclusionsRecommendations to guide physicians practice when assessing children presenting to the ED following blunt head trauma are reported in both summary and extensive format in the guideline document.

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes.

A rare embryonal brain tumor has been diagnosed in a 4-year-old boy. The mass, located at the pons and mesencephalon, has been histologically classified as an embryonal tumor containing abundant neuropil and true rosettes. After surgical complete removal of the neoplasia, the child received intensive combined chemotherapy and radiotherapy. He is alive and free of disease at 34 months from surgery. Difficulties in histological definition, possible suggestions for treatment proposals are discussed.