Italian Journal of Pediatrics最新文献

{"title":"The effect of benzylpenicillin prohylaxis after birth on length and weight of syphilis-exposed infants in eastern China.","authors":"Kejin Chen, Xiaoyan Zhao, Wei Wu, Lihua Jiang, Xiaojie Yuan, Chaorong Bian","doi":"10.1186/s13052-024-01779-7","DOIUrl":"https://doi.org/10.1186/s13052-024-01779-7","url":null,"abstract":"<p><strong>Background: </strong>We conducted this study to assess the impact of an intervention to interrupt mother-to-child transmission on the height and weight of syphilis-exposed infants after receiving penicillin prophylaxis after birth and to provide a scientific basis for further elimination of mother-to-child transmission.</p><p><strong>Methods: </strong>We recruited 419 infants born to syphilis-infected mothers from 2015 to 2020 in Changzhou, and performed 1:1 matching to infants born to syphilis-free mothers during the same period. All infants were followed up to 18 months of age. We collected height and weight data and compared them.</p><p><strong>Results: </strong>At 18 months of age, the height and weight of the syphilis-exposed infants were almost greater than the WHO reference standards. However, when compared with local unexposed infants, there were almost no differences. The boys born to mothers who received two courses of treatment had longer body lengths at 18 months of age than did those born to mothers who did not receive two courses of treatment, and the girls born to mothers who did not receive treatment had lower body weights at 3 months of age than did both treated groups.</p><p><strong>Conclusion: </strong>The growth trajectory of infants without congenital syphilis born to syphilis-infected mothers is virtually indistinguishable from that of the general local population. Syphilis-exposed newborns can receive preventive treatment as a public health intervention.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"199"},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346817","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":"The feasibility and safety of ultrasound-guided puncture for treatment of septic arthritis in children.","authors":"Jeffrey Michaud, Sarah Dutron, Julien Pico, Clément Jeandel, Pauline Joly-Monrigal, Petre Neagoe, Fanny Alkar, Thomas Sarradin, Léa Domitien, Olivier Prodhomme, Eric Jeziorski, Marion Delpont","doi":"10.1186/s13052-024-01746-2","DOIUrl":"https://doi.org/10.1186/s13052-024-01746-2","url":null,"abstract":"<p><strong>Background: </strong>In septic arthritis, joint lavage can be performed using arthrocentesis (articular needle aspiration) or arthrotomy. The use of fluoroscopy to guide the puncture involves radiation. Ultrasound (US) guidance is still little recommended to guide the treatment of septic arthritis in children. We wanted to know whether treating septic arthritis in children was feasible and safe under ultrasound (US) guidance.</p><p><strong>Methods: </strong>We retrospectively included 67 children (mean age, 3.0 years; range: 1 month-12 years) treated for septic arthritis of the hip, shoulder, or ankle using arthrocentesis or arthrotomy under US or fluoroscopic guidance (non-US group) with at least two years of follow-up.</p><p><strong>Results: </strong>We found no significant difference between the groups. After arthrocentesis, patients in the US group remained in hospital for 0.8 days longer than those in the non-US group, but the difference was not significant. After arthrotomy, the arthrotomy-US group required 0.4 more days of hospitalization than the non-US group, but the difference was not significant. Patients in the US group exhibited higher initial CRP and WBC values than patients treated without US, although the differences were not significant. The WBC values of the arthrocentesis-US groups were higher than those of the non-US groups initially and at 72 h, but non significantly so; they became similar on day 5. Three puncture failures required arthrotomy (two under US guidance). Three patients required early revision surgery: one had undergone arthrocentesis with US, one arthrocentesis without US, and one arthrotomy without US. At the last follow-up, there were no clinical sequelae but two hip arthrotomies (one US and one non-US child) showed asymptomatic calcifications.</p><p><strong>Conclusions: </strong>US guidance is feasible and safe for treating septic arthritis in children, visualizing structures not shown by X-rays and avoiding radiation exposure during surgery.</p><p><strong>Level of evidence: </strong>IV (case series).</p><p><strong>Trial registration: </strong>IRB-MTP_2021_05_202100781.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"198"},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346818","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":"Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.","authors":"Dedong Zhang, Siying Liu, Bixin Xi, Yongbing Zhu, Yu Chen, Jiasi Zhang, Aiguo Liu","doi":"10.1186/s13052-024-01757-z","DOIUrl":"https://doi.org/10.1186/s13052-024-01757-z","url":null,"abstract":"<p><strong>Background: </strong>Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless (AMN) gene that causes IGS syndrome and underscores the importance of long-term oral vitamin B12 replacement therapy in managing the condition.</p><p><strong>Case presentation: </strong>In this retrospective analysis, we present the clinical data of a 3-year and 6-month-old female child diagnosed with IGS at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China, in November 2018. The child was admitted to the hospital due to a history of anemia persisting for over a month. There was no previous significant medical history. The admission examination revealed megaloblastic anemia with proteinuria. Serum vitamin B12 levels were decreased, while folic acid and renal function were normal. The patient was diagnosed with megaloblastic anemia and started long-term oral vitamin B12 replacement therapy. Throughout the follow-up period, blood tests consistently showed normal results, while proteinuria persisted. In November 2019, the child and her parents underwent whole exome sequencing analysis, which revealed a novel compound heterozygous variant in the AMN gene: c.162 + 1G > A and c.922 C > T (p.Q308X) in the child, c.162 + 1G > A in the father, and c.922 C > T (p.Q308X) in the mother. Therefore, this child was further diagnosed with IGS.</p><p><strong>Conclusions: </strong>In this case, whole exome sequencing proves to be highly practical in daily healthcare for diagnosing and refining rare or ultra-rare diseases with ambiguous phenotypes or genetic diversity. It is also valuable for prognostic evaluation and personalized management. Additionally, the oral vitamin B12 treatment demonstrated positive clinical effects for the child, offering a new option for patients unable to undergo intramuscular vitamin B12 replacement therapy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"191"},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346812","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":"Clinical application of flexible fiberoptic bronchoscopy in neonatal respiratory diseases.","authors":"Xuee Zhuang, Zhiyong Liu, Jingyang Zheng, Jinglin Xu, Dongmei Chen","doi":"10.1186/s13052-024-01755-1","DOIUrl":"https://doi.org/10.1186/s13052-024-01755-1","url":null,"abstract":"<p><strong>Background: </strong>Respiratory disease is a predominantly observed problem in neonates. Moreover, the application of flexible bronchoscopy in newborns is gradually increasing. This study aimed to investigate the value of bronchoscopy in neonates respiratory abnormalities and evaluate the safety of bronchoscopy application.</p><p><strong>Methods: </strong>Clinical data and outcomes of 56 neonates who underwent flexible bronchoscopy were retrospectively analyzed. Correlations among indications for bronchoscopy, findings, and clinical diseases were assessed.</p><p><strong>Results: </strong>A total of 56 neonates had a minimum weight of 1200 g at the time of bronchoscopy, while the minimum gestational age at birth was 26 + 1 weeks. A total of 22 cases (39.3%) had two or more clinical indications; the five most common indications were respiratory distress in 24 (42.9%), stridor in 22 (39.3%), pulmonary atelectasis in 10 (17.6%), feeding difficulty in 10 (17.6%), and difficult weaning from mechanical ventilation in 6 (10.7%) cases. A total of 13 types of abnormalities were detected in the respiratory tract. The most common abnormalities were laryngomalacia in 29 (59.2%), tracheobroncomalacia in 8 (16.3%), and vocal cord paralysis in 6 (12.2%) cases. Bronchoalveolar lavage was performed in 39 cases. Eight cases were diagnosed by bronchoscopy and then treated with surgery in the Thoracic Surgery/Otolaryngology Department; all of them were cured and discharged from the hospital after surgery. No serious complications, such as pneumothorax or shock, occurred in any of the children, of whom none died.</p><p><strong>Conclusions: </strong>Flexible bronchoscopy could play an important role in diagnosing and identifying respiratory disorders in neonates and be safely used with few serious complications.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"190"},"PeriodicalIF":3.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11415989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287372","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":"Association between subcortical nuclei volume changes and cognition in preschool-aged children with tetralogy of Fallot after corrective surgery: a cross-sectional study.","authors":"Liang Hu, Kede Wu, Huijun Li, Meijiao Zhu, Yaqi Zhang, Mingcui Fu, Minghui Tang, Fan Lu, Xinyu Cai, Jia An, Nishant Patel, Ye Lin, Zhen Zhang, Ming Yang, Xuming Mo","doi":"10.1186/s13052-024-01764-0","DOIUrl":"https://doi.org/10.1186/s13052-024-01764-0","url":null,"abstract":"<p><strong>Background: </strong>Neurocognitive disorders frequently occur in patients with cyanotic congenital heart disease (CCHD) because of the hemodynamic abnormalities induced by preoperative cardiac structural changes. We aimed to evaluate subcortical nuclei volume changes and cognition in postoperative tetralogy of Fallot (TOF) children, and analyze their relationship with preoperative cardiac structural changes.</p><p><strong>Methods: </strong>This case-control study involved thirty-six children with repaired TOF and twenty-nine healthy controls (HCs). We utilized three-dimensional (3D) T1-weighted high-resolution structural images alongside the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV) to evaluate the cognitive differences between the TOF and HC group.</p><p><strong>Results: </strong>We observed notable differences in subcortical nuclei volume between the TOF and HC group, specifically in the left amygdala nucleus (LAM, TOF: 1292.60 ± 155.57; HC: 1436.27 ± 140.62, p < 0.001), left thalamus proper nucleus (LTHA, TOF: 6771.54 ± 666.03; HC: 7435.36 ± 532.84, p < 0.001), and right thalamus proper nucleus (RTHA, TOF: 6514.61 ± 715.23; HC: 7162.94 ± 554.60, p < 0.001). Furthermore, a diminished integrity of LAM ( β:-19.828, 95% CI: -36.462, -3.193), which showed an inverse relationship with the size of the preoperative ventricular septal defect (VSD), correlated with lower working memory indices in children with TOF.</p><p><strong>Conclusions: </strong>Our findings indicate that subcortical nuclei structural injuries possibly potentially stemming from cardiac anatomical abnormalities, are associated with impaired working memory in preschool-aged children with TOF. The LAM in particular may serve as a potential biomarker for neurocognitive deficits in TOF, offering predictive value for future neurodevelopmental outcomes, and shedding light on the neurophysiological mechanisms of these cognitive impairments.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"189"},"PeriodicalIF":3.2,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142287371","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":"Effects of hippotherapy on motor function of children with cerebral palsy: a systematic review study","authors":"Panagiotis Plotas, Angelos Papadopoulos, Evangelia-Maria Apostolelli, Eleni Vlachou, Foteini Gazou, Ioanna Zogopoulou, Ioanna Katsaidoni, Ioanna Panagiotopoulou, Sofia Paraskevi Paparouna, Nikolina Silavou, Katerina Fragkiadaki, Eirini Tsiamaki, Sotirios Fouzas, Xenophon Sinopidis, Nikolaos Trimmis","doi":"10.1186/s13052-024-01715-9","DOIUrl":"https://doi.org/10.1186/s13052-024-01715-9","url":null,"abstract":"Cerebral palsy includes a spectrum of neurodevelopmental disorders caused by brain damage, leading to impairment of movement, posture, and balance for a lifetime. There are many therapeutic interventions for cerebral palsy. One of them is hippotherapy, an alternative physical therapy. It is a type of equine-assisted activity and therapy where children with cerebral palsy and motor function skills interact with a horse. We aimed to study the effects of hippotherapy, as an alternative therapy, on the motor function of children with cerebral palsy. We performed a review of the latest literature on hippotherapy and cerebral palsy. The criteria we used were specific keywords, publication date, age of the subjects/studied population, and article type. The outcome of our research resulted in ten relevant studies. The findings demonstrate improvements in various aspects of motor function – more specifically in gross motor function skills, balance, coordination, gait parameters, and muscle strength. Two of ten studies used the Horse-Riding Simulator with significant improvements in postural control in sitting, motor function, and hip abduction range of motion. Hippotherapy can improve motor function skills of children between 2 and 14 years of age with cerebral palsy, affecting their well-being and overall quality of life. It can have a positive effect either as a standalone treatment or as a part of other traditional therapies. Extended research is needed to assess whether hippotherapy may present significant long-term changes in motor skills in children with cerebral palsy.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"26 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients","authors":"Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, Federico Grilli, Giulietta Scuvera, Paola Giovanna Marchisio, Carlo Virginio Agostoni, Federica Natacci, Donatella Milani","doi":"10.1186/s13052-024-01763-1","DOIUrl":"https://doi.org/10.1186/s13052-024-01763-1","url":null,"abstract":"Some chromatinopathies may present with common clinical findings (intellectual disability, brain and limb malformation, facial dysmorphism). Furthermore, one of their cardinal shared features is growth dysregulation.We aimed to assess and deepen this resemblance in three specific conditions, namely Wiedemann-Steiner (WDSTS), Kleefstra (KLEFS1) and Coffin-Siris syndrome (CSS1), with a particular focus on possible metabolic roots. Eleven patients were enrolled, three with WDSTS, five with KLEFS1 and three with CSS1, referring to Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Milan, Italy. We performed both a physical examination with detailed anthropometric measurements and an evaluation of the patients’ REE (rest energy expenditure) by indirect calorimetry, comparing the results with age- and sex-matched healthy controls. We observed new clinical features and overlap between these conditions suggesting that different disturbances of epigenetic machinery genes can converge on a common effect, leading to overlapping clinical phenotypes.\u2028The REE was not distinguishable between the three conditions and healthy controls. Epigenetic machinery plays an essential role both in growth regulation and in neurodevelopment; we recommend evaluating skeletal [craniovertebral junction abnormalities (CVJ) polydactyly], otolaryngological [obstructive sleep apnea syndrome (OSAs), recurrent otitis media], dental [tooth agenesis, talon cusps], and central nervous system (CNS) [olfactory bulbs and cerebellum anomalies] features. These features could be included in monitoring guidelines. Further studies are needed to deepen the knowledge about energy metabolism.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy","authors":"Francesca Di Sario, Francesca Piloni, Francesco Gasparini, Eleonora Serpetti, Barbara Bruschi, Paola Coccia, Maria Elena Lionetti, Simona Gatti","doi":"10.1186/s13052-024-01759-x","DOIUrl":"https://doi.org/10.1186/s13052-024-01759-x","url":null,"abstract":"Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria. IGS is caused by a disfunction of the cubam receptor, which mediates the reabsorption of cobalamin in the ileum and the reuptake of albumin in renal proximal tubules. We describe the case of a 23-month-old-italian infant presenting with severe pancytopenia and failure to thrive in whom the diagnosis of IGS was made and vitamin B12 replacement therapy was resolutive. Genetic analysis (NGS with CNV analysis including 214 genes involved in bone marrow failure and anemia), showed the presence of two pathogenetic variants in the AMN gene (c-208–2 A > G and c.1006 + 34_1007-31del). These variants have been previously described in the literature, but their combination has never been reported. Imerslund-Gräsbeck syndrome should be considered in the differential diagnosis of children with severe pancytopenia even in those without neurological involvement. This case emphasizes the importance of an early diagnosis and prompt treatment, to prevent irreversible neurological injury.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"19 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progression prediction of coronary artery lesions by echocardiography-based ultrasomics analysis in Kawasaki disease","authors":"Dan Xu, Chen-Hui Feng, Ai-Mei Cao, Shuai Yang, Zhen-Chao Tang, Xiao-Hui Li","doi":"10.1186/s13052-024-01739-1","DOIUrl":"https://doi.org/10.1186/s13052-024-01739-1","url":null,"abstract":"Echocardiography-based ultrasomics analysis aids Kawasaki disease (KD) diagnosis but its role in predicting coronary artery lesions (CALs) progression remains unknown. We aimed to develop and validate a predictive model combining echocardiogram-based ultrasomics with clinical parameters for CALs progression in KD. Total 371 KD patients with CALs at baseline were enrolled from a retrospective cohort (cohort 1, n = 316) and a prospective cohort (cohort 2, n = 55). CALs progression was defined by increased Z scores in any coronary artery branch at the 1-month follow-up. Patients in cohort 1 were split randomly into training and validation set 1 at the ratio of 6:4, while cohort 2 comprised validation set 2. Clinical parameters and ultrasomics features at baseline were analyzed and selected for models construction. Model performance was evaluated by area under the receiver operating characteristic curve (AUROC), area under the precision-recall curve (AUPRC) and decision curve analysis (DCA) in the training and two validation sets. At the 1-month follow-ups, 65 patients presented with CALs progression. Three clinical parameters and six ultrasomics features were selected to construct the model. The clinical-ultrasomics model exhibited a good predictive capability in the training, validation set 1 and set 2, achieving AUROCs of 0.83 (95% CI, 0.75–0.90), 0.84 (95% CI, 0.74–0.94), and 0.73 (95% CI, 0.40–0.86), respectively. Moreover, the AUPRC values and DCA of three model demonstrated that the clinical-ultrasomics model consistently outperformed both the clinical model and the ultrasomics model across all three sets, including the training set and the two validation sets. Our study demonstrated the effective predictive capacity of a prediction model combining echocardiogram-based ultrasomics features and clinical parameters in predicting CALs progression in KD. Early identification of patients at risk of progression of coronary artery lesions remains vital for improving the prognosis of patients with Kawasaki disease. Whether ultrasomics help predict the progression of coronary artery lesions in Kawasaki disease remains unclear. The present study included 371 patients with Kawasaki disease and analyzed 1484 echocardiographic images. An integrated model combining echocardiogram-based ultrasomics features and clinical parameters was established and validated, demonstrating satisfactory performance in predicting the progression of coronary artery lesions in Kawasaki disease.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"16 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature","authors":"Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede","doi":"10.1186/s13052-024-01756-0","DOIUrl":"https://doi.org/10.1186/s13052-024-01756-0","url":null,"abstract":"Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination. This usually reveals rapidly progressive cardiovascular disease due to severe atrioventricular valve dysfunction. Herein, we report the case of an early-onset cardiac failure in a neonate with Marfan syndrome, with a brief review of the literature of cases with cardiac involvement in neonatal age. Clinical exome sequencing identified the novel heterozygous de novo missense variant c.3152T > G in FBN1 gene (NM_000138.4), causing the aminoacidic change p.Phe1051Cys. Phenotype-genotype correlation led to a multidisciplinary diagnostic and management workflow. The prompt recognition of a typical phenotype such as that of Marfan syndrome should lead to a detailed evaluation and close follow-up of cardiac morphology and function. Indeed, multi-disciplinary evaluation based on genotype-phenotype correlations of nMFS cases is essential to finding out the best medical and surgical approach, predicting the relevant impact on patient prognosis, and adequately counseling their families.","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"29 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}