Italian Journal of Pediatrics最新文献

{"title":"Dynamic analysis of pathogenic distribution and drug resistance mechanism in neonatal suppurative meningitis: a retrospective study.","authors":"Lu He, Muchun Yu, Zhihong Sun, Congcong Zhao, Huiqing Sun","doi":"10.1186/s13052-025-02032-5","DOIUrl":"10.1186/s13052-025-02032-5","url":null,"abstract":"<p><strong>Background: </strong>Neonatal purulent meningitis is a purulent bacterial infection associated with high morbidity and mortality. Conventional antibiotics are becoming less effective due to increasing drug resistance. Moreover, there are variations in the disease-causing bacterial species according to regions, with the pathogens undergoing continuous evolution. Therefore, this study aimed to compare and analyze dynamic changes of pathogenic distribution and drug resistance mechanisms in neonatal suppurative meningitis, emphasize the importance of continuous microbiological surveillance and epidemiological monitoring to guide antimicrobial stewardship and optimize antibiotic treatment strategies, ultimately reducing neonatal morbidity and mortality.</p><p><strong>Methods: </strong>We retrospectively analyzed newborns diagnosed with suppurative meningitis having positive cerebrospinal fluid cultures between January 2017 and December 2022. Pathogenic distribution and drug resistance mechanisms were analyzed among the years and compared between preterm and full-term neonates.</p><p><strong>Results: </strong>Among the 224 cases of neonatal suppurative meningitis with positive cerebrospinal fluid cultures, the highest number of cases occurred in 2018 and the lowest in 2020. The age of onset in newborns exhibited variation, with the highest recorded in 2017 and the lowest in 2021. Bacterial species constituting significant proportions of the etiological distribution were Staphylococcus epidermidis (17.4%), Klebsiella pneumoniae (17.0%), Escherichia coli (15.2%), and Enterococcus faecium (8.0%). Among them, K. pneumoniae showed significant differences in proportion across the years (P = 0.025). Regarding drug-resistant bacteria, carbapenem-resistant Enterobacteriaceae (CRE) and methicillin-resistant coagulase-negative staphylococci (MRCNS) were significantly different between the years (P = 0.016 and P = 0.031, respectively). The highest proportion of drug resistance was observed in MRCNS (22.8%), followed by CRE (16.5%).</p><p><strong>Conclusions: </strong>The incidence of neonatal suppurative meningitis decreased annually from 2020 to 2022 (following the COVID-19 pandemic). The incidences of Enterococcus faecium was higher before the pandemic, whereas that of MRCNS increased after the epidemic. There were no methicillin-resistant Staphylococcus aureus resistant bacteria after the pandemic. After 2019, the overall incidence of drug-resistant bacteria decreased every year, and the pandemic affected the distribution of pathogens and drug-resistant bacteria.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"206"},"PeriodicalIF":3.2,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12225130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hospitalizations for respiratory syncytial virus (RSV) in Sicily from 2008 to 2021: clinical features and predictors of severity.","authors":"Anna Condemi, Domenico Marrali, Chiara Albano, Giulia Linares, Valeria Garbo, Giovanni Boncori, Laura Venuti, Antonio Cascio, Claudia Colomba","doi":"10.1186/s13052-025-01998-6","DOIUrl":"10.1186/s13052-025-01998-6","url":null,"abstract":"<p><strong>Background: </strong>Respiratory syncytial virus (RSV) is the leading cause of bronchiolitis, resulting in 3.6 million hospitalizations for acute lower respiratory tract infections and 101,400 deaths in children under 5 years of age worldwide each year. In Europe, the estimated incidence of RSV-related hospitalizations in infants is 1.8%. We describe the incidence of RSV infection in patients hospitalized in Sicily (Italy) between 2008 and 2021, examine the clinical-epidemiological characteristics of RSV-positive patients, and assess comorbidities associated with illness severity.</p><p><strong>Methods: </strong>All data were retrospectively collected from standard hospital discharge records (HDRs). Significant factors from the univariate analysis were included in a multivariate logistic regression using the stepwise forward selection method to calculate adjusted odds ratios (aORs) and identify independent risk factors for ICU admission.</p><p><strong>Results: </strong>Collectively, within the study time frame, 4,485 hospital admissions were RSV-related, 271 patients (6%) were admitted to the ICU, and eight deceased (0.2%). The majority of hospitalized patients (86%) were infants (up to 1 year old), 16.5% were newborns (<28 days), and 10.1% were in the 1-4-year-old group. Several predictors of ICU admission, including neonatal sepsis, neonatal respiratory distress, and younger age (in months), were identified through multivariate logistic regression analysis.</p><p><strong>Conclusions: </strong>RSV-associated pathologies are important causes of hospitalization in Sicily, and young age (particularly 0-3 months) and comorbidities, including nutritional and metabolic disorders (with a stronger effect in the pediatric subgroup) and congenital heart diseases, are important outcome predictors. However, considering that RSV-related diseases continue to require hospitalizations in healthy children and adults, it is important to continue monitoring RSV-related hospitalizations through updated epidemiological studies, which can guide the implementation of existing preventive strategies and inform the cost‒benefit analysis of new ones.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"205"},"PeriodicalIF":3.2,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12224365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.","authors":"Yixuan Chu, Ciliu Zhang, Zou Pan, Jing Peng","doi":"10.1186/s13052-025-02053-0","DOIUrl":"10.1186/s13052-025-02053-0","url":null,"abstract":"<p><strong>Background: </strong>Despite the widespread use of Multiplex Ligation-dependent Probe Amplification (MLPA) and Next-Generation Sequencing (NGS) in Duchenne/Becker Muscular Dystrophy (DMD/BMD), these methods have limitations when dealing with complex genetic backgrounds. Long-Read Sequencing (LRS), an emerging technology that provides longer read lengths, is advantageous for uncovering complex gene rearrangements and deep intronic mutations.</p><p><strong>Methods: </strong>This study conducted LRS on 5 children with suspected DMD/BMD. One patient had not underwent genetic testing before, while the others had previously underwent MLPA and WES and were unable to find pathogenic variants. Chromosome analysis and X inactivation analysis were performed on female patient.</p><p><strong>Results: </strong>Among the four patients who had not received a diagnosis through MLPA and NGS, LRS successfully identified translocations and inversions in two patients and deep intronic mutations in the other two. The fifth patient, who underwent LRS, initially showed no apparent mutations. However, muscle biopsy confirmed the disease diagnosis, and RNA sequencing revealed a partial deletion of exon 19 in the mRNA, ultimately pinpointing the causative mutation.</p><p><strong>Conclusions: </strong>The results of this study highlight the advantages of LRS in revealing complex genetic variations, particularly those challenging to detect with conventional methods, such as structural variations and deep intronic regions. Furthermore, combining muscle biopsy and RNA sequencing provides more comprehensive diagnostic information for patients not diagnosed through standard genetic tests. In the future, this technology is expected to complement routine genetic testing, aiding clinicians in achieving precise diagnoses across a broader patient population.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"204"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12219927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature.","authors":"Maria Cristina Maggio, Cinzia Castana, Marina Caserta, Antonella Di Fiore, Vittoria Siciliano, Giovanni Corsello","doi":"10.1186/s13052-025-02052-1","DOIUrl":"10.1186/s13052-025-02052-1","url":null,"abstract":"<p><strong>Background: </strong>Methylmalonic acidemia (MMA) secondary to mutase deficiency, mut0, is an inborn error of metabolism causing complete enzyme defect, allowing a high risk of irreversible complications, secondary to metabolic decompensation, induced by infections and the hyperinflammatory state. Multisystem Inflammatory Syndrome in Children (MIS-C) is a hyperinflammatory syndrome that manifests 14-60 days after the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients aged < 21 years. Only a few cases of patients with inherited metabolic diseases (IMD) and MIS-C are described. However, to our knowledge, this is the first case of MMA with MIS-C.</p><p><strong>Case presentation: </strong>We describe a 2-year-old child with MMA secondary to mutase deficiency, carrying the homozygous mutation c.2179 C > T of MMUT gene, associated to mut0 phenotype. One month after SARS-CoV-2 infection, he presented fever, rash, significant increase of C-reactive protein (CRP), ferritin, triglycerides, interleukin (IL)-6, N-terminal fragment of the pro brain natriuretic peptide (NT-pro-BNP), compatible with the diagnosis of MIS-C. He was treated with intravenous immunoglobulins and methylprednisolone, with rapid clinical improvement. Ten days later, he showed the worsening of clinical and hematological parameters, associated with anemia, thrombocytopenia, metabolic acidosis, hyperlactatemia, increased urinary methylmalonic acid, leading to multiorgan failure (MOF). He was treated with high caloric intake nutrition by intravenous carbohydrates infusion; sodium bicarbonate, thiamine, carnitine, coenzyme Q, vitamin C, antibiotics, methylprednisolone and anakinra. Three days after the start of anakinra, a significant improvement in clinical and biochemical parameters occurred. Twenty days later, a sepsis from Methicillin-resistant Staphylococcus Aureus and Candida Albicans required the interruption of anakinra, with the decline of the clinical conditions and the exitus.</p><p><strong>Conclusions: </strong>In patients with a severe form of MMA and MIS-C anakinra is a safe treatment. MOF and metabolic decompensation, secondary to the hyperinflammatory state typical of MIS-C, can be successfully treated with targeted therapy against proinflammatory cytokines. The description of these clinical cases is a precious lesson in managing IMD therapeutic emergencies. Paediatricians must provide a strict monitoring of metabolic compensation, to avoid irreversible complications.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"202"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BM study: a monocentric prospective observational cohort study on neonatal humoral immunity against COVID-19 secondary to transplacental antibody transfer and breastfeeding.","authors":"Rosa Perretta, Juan José Borraz Torca, Giuseppina De Luca, Marta Donà, Martina Gasparella, Elisa Rizzato, Nicola Bertazza Partigiani","doi":"10.1186/s13052-025-02042-3","DOIUrl":"10.1186/s13052-025-02042-3","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic highlighted the vulnerability of pregnant women and newborns, emphasizing the importance of vaccination during pregnancy to protect mothers and their infants. Maternal vaccination generates robust anti-SARS-CoV-2 IgG antibodies, transferred to the fetus through the placenta, providing neonatal protection. Breastfeeding also transfers maternal antibodies (IgA and IgG), potentially enhancing mucosal immunity. This study aimed to evaluate neonatal antibody kinetics following maternal COVID-19 vaccination, comparing vaccinated naïve mothers to those previously infected.</p><p><strong>Methods: </strong>A monocentric prospective observational cohort study was conducted between July 2021 and July 2022, enrolling 44 mother-infant pairs at the Pediatrics Unit of Arzignano Cazzavillan Hospital. Eligible participants included mothers vaccinated during pregnancy (third trimester), either naïve or previously infected with SARS-CoV-2. Blood and breast milk samples were collected at birth and periodically up to six months postpartum. Neonatal cord blood and subsequent samples were analyzed for anti-SARS-CoV-2 spike (S1) IgG and IgA antibodies. Statistical analyses involved parametric and non-parametric tests, with significance set at p < 0.05.</p><p><strong>Results: </strong>Out of 44 enrolled pairs, 12 breastfeeding pairs (9 naïve and 3 previously infected mothers) and 3 formula-fed pairs completed the full protocol. At birth, neonates demonstrated significantly higher IgG levels than mothers, especially from naïve mothers, confirming efficient transplacental antibody transfer (p < 0.05). Breast milk from previously infected mothers contained significantly higher IgA levels than naïve mothers at all postpartum time points (p < 0.05), whereas IgG levels remained stable and similar between groups. Formula-fed infants exhibited a faster decline in serum IgG compared to breastfed infants.</p><p><strong>Conclusions: </strong>Maternal vaccination during pregnancy induced robust transplacental IgG transfer, providing neonatal protection from birth. Breastfeeding significantly maintained neonatal IgG levels and contributed additional IgA-mediated mucosal protection, particularly following maternal infection. Formula-fed infants experienced a more rapid antibody decline. Maternal COVID-19 vaccination effectively transfers protective antibodies transplacental and through breastfeeding, suggesting its importance in prenatal care strategies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"203"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calcified necrotizing funisitis and its association with adverse neonatal outcomes: a case-control study.","authors":"Lei Peng, Min Shi, Qian Liu, Xiufang Fan, Juan Li, Xia Li","doi":"10.1186/s13052-025-02033-4","DOIUrl":"10.1186/s13052-025-02033-4","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"201"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diffuse infantile hepatic haemangioma and consumptive hypothyroidism: a clinical case with anaemia that raises suspicion.","authors":"Giovanni Corsello, Elisa Costantini, Marco Sciveres, Adele Figuccia, Maria Cristina Maggio","doi":"10.1186/s13052-025-02027-2","DOIUrl":"10.1186/s13052-025-02027-2","url":null,"abstract":"<p><strong>Background: </strong>Infantile hepatic haemangiomas are benign liver tumours, with growth and regression phases of the tumour, corresponding to those of infantile cutaneous haemangiomas. The classification and the pathogenesis need further insights. Though most infantile hepatic haemangiomas are asymptomatic, some patients show severe complications, such as high-output congestive cardiac failure, anemia, thrombocytopenia, consumptive coagulopathy, liver failure and consumptive hypothyroidism. A fatal clinical evolution is described in some patients. The heterogeneity of the lesion's diffusion and of the disease-related comorbidities make the treatment challenging. The treatment with oral propranolol is effective and allows symptoms regression.</p><p><strong>Case presentation: </strong>We report the case of a two-month-old female with the first diagnosis of late-onset congenital hypothyroidism, associated to unexplained anemia and significant increase of transaminases and gamma-GT. She promptly started treatment with levothyroxine (10 mcg/kg/day). To identify the etiology of hypothyroidism, anemia and increased liver enzymes, she underwent an abdominal ultrasound, that evidenced infantile diffuse hepatic hemangiomatosis, confirmed by abdominal MRI. Brain MRI showed a few millimetric areoles, compatible with microangiomas. The patient needed a significant increase of levothyroxine dosage, reaching a difficult normalization of TSH, fT4 and fT3. Ten days after the start of treatment with propranolol, a significant reduction in liver hemangiomatosis occurred, confirmed by the reduction of alpha-fetoprotein, AST, ALT, gamma -GT and TSH levels. The patient required a progressive reduction of levothyroxine dose, with the improvement of hematologic parameters. The child's auxological growth and neuromotor development occurred in an age-appropriate manner.</p><p><strong>Conclusions: </strong>In the case described hereby, complications such as anemia, hypothyroidism, hepatomegaly, and impaired liver function, required to start therapy with propranolol, with the improvement of clinical and laboratory parameters. High-dose levothyroxine replacement therapy is mandatory to preserve the neurological development that occurs when hypothyroidism is inadequately treated throughout the proliferative phase of haemangiomas. In fact, the prognosis is strongly determined by the early identification of haemangiomatosis as the cause of hypothyroidism and of the other complications. Systemic impairment in early phases may be very subtle, requiring a prompt diagnosis and a multidisciplinary approach to undertake appropriate therapy and prevent short- and long-term sequelae.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"200"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type.","authors":"Yuehua Dong, Shaohua Pei, Zirao Yang, Yanyan Xue, He Wang","doi":"10.1186/s13052-025-02050-3","DOIUrl":"10.1186/s13052-025-02050-3","url":null,"abstract":"<p><strong>Background: </strong>Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short stature.</p><p><strong>Case presentation: </strong>Here we present the clinical and genetic features of an 8-year-8-month-old boy exhibiting idiopathic short stature and abnormal changes of the appendicular skeleton and axial skeleton, consistent with the established phenotypic spectrum of AMDM. Using diagnostic exome sequencing, we identified two variants in NPR2: a known pathogenic nonsense variant, C.2965 C > T (p.Arg989*), and a missense variant of unknown significance, C.2291T > C (p.Leu764Pro), which has never been reported before. Sanger sequencing confirmed that the variants were inherited from his phenotypically normal parents. The proband is compound heterozygous, while both parents are heterozygous carriers, indicating an autosomal recessive pattern of inheritance.</p><p><strong>Conclusion: </strong>This study enriches the pathogenic gene mutation spectrum of NPR2 in patients with AMDM and further emphasizes the application of molecular genetic detection in the diagnosis of rare skeletal abnormalities.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"199"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12186393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Consumptive hypothyroidism complicating infantile hepatic hemangioma successfully treated with propranolol: a case report and literature review.","authors":"Irene Bettini, Giulia Poletti, Alessandro Rocca, Valeria Di Natale, Monia Gennari, Marcello Lanari, Andrea Pession, Alessandra Cassio","doi":"10.1186/s13052-025-02020-9","DOIUrl":"10.1186/s13052-025-02020-9","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"198"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12186321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital cytomegalovirus infection and brain injury in a newborn following maternal non-primary infection: case report of an unexpected diagnosis.","authors":"Gregorio Serra, Ettore Piro, Deborah Bacile, Laura Antonella Canduscio, Claudia Colomba, Mario Giuffrè, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello","doi":"10.1186/s13052-025-02017-4","DOIUrl":"10.1186/s13052-025-02017-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Congenital cytomegalovirus (cCMV) infection leads to a significant burden on the health system. Relevant insights have been reached in the understanding of primary infection (PI) during pregnancy. However, knowledge gaps still exist related to maternal non-primary infections (NPI). Severe neurologic damage and hearing loss are the possible outcomes in the 17-20% of affected children. Furthermore, neither risk prevention strategies nor management are currently available for these NPI patients.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;We report on a male term newborn showing in the first days of life hyperexcitability, tremors and increased muscular tone, in addition to thrombocytopenia, initially related to an early-onset sepsis. Obstetric history revealed that the mother underwent steroid treatment during the whole first trimester of pregnancy. She had positive CMV IgG and negative CMV IgM antibodies throughout gestation. At 15 days of age, due to the persistence of neurological and hematological signs and abnormalities found on brain ultrasound (bilateral ventriculomegaly, and an anechoic lesion within the right caudothalamic grove at first related with grade I intraventricular hemorrhage) a brain magnetic resonance imaging (MRI) was performed, showing significant lesions highly suggestive of cCMV. Although such diagnostic hypothesis was unsuspected (in light of the association of clinical manifestations with perinatal sepsis and the misleading maternal serology), however CMV DNA detection on blood and urine was carried out, giving positive results in both samples for connatal infection diagnosis. Newborn CMV IgG and IgM antibodies resulted positive, while the IgG avidity test showed high values according to a likely early intrauterine infection. The antiviral therapy was therefore begun and continued for 6 months. He currently is 6 months old and included in a multidisciplinary follow-up. His growth is within the normal limits, but a neuromotor delay is present. Audiological and ophthalmological evaluations, laboratory as well as multiorgan ultrasound (US) examinations have not revealed further anomalies to date.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Our case underlines that CMV reactivations or reinfections may be responsible, as well as PI, for significant and harmful effects on the fetus and newborn. It also shows the limited diagnostic and preventive/therapeutical weapons available against NPI during gestation. The present experience confirmed, indeed, the literature regarding the absence of valid laboratory test to identify women with preexisting immunity at risk of giving birth to an infected neonate. Women with previous immunity should be treated with precautionary protocols, including US monitoring and fetal MRI aimed at detecting cCMV. Brain MRI findings may be a pre-warning for newborns of mothers with previous immunity showing neurological symptoms and ultrasound abnormalities. In these cases, its execu","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"197"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}