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The article discusses the clinical cases of four patients who developed completely isolated enteric duplication cysts (CIDC). Enteric duplication cysts are rare congenital abnormalities attached to a portion of the gastrointestinal tract and are located on the mesenteric site of the digestive tract. They are diagnosed through computed tomography and magnetic resonance imaging. The cases presented here involve children who were diagnosed with CIDC associated with bowel malformation, such as ileal atresia, Mekel's diverticulum and enteric duplication. The treatment administered to each patient is described, along with their clinical outcomes.

Background: Non-cystic fibrosis (non-CF) bronchiectasis (BE) is defined as a clinical syndrome of recurrent, persistent wet cough and abnormal bronchial dilatation on chest High Resolution Computed Tomography (HRCT) scans. The aims of this study were to characterize the pattern of the trajectories of lung function parameters and to consider the relationship between the lung function and radiological severity according to the modified Reiff score., Methods: The study retrospectively considered 86 children (46.5% male, median age of 4 years) with non-CF BE, admitted at the Paediatric Pneumology Unit of Buzzi Children's Hospital from January 2015 to December 2022. The diagnosis of BE was made according to the presence of a suggestive clinical history and symptoms and key features of BE evidenced on chest HRCT scans. The modified Reiff score was adapted to quantify the severity of BE. Spirometry (COSMED MicroQuark spirometer) was performed at median age of 5.78 years (baseline or T 0 ) and after 1 and 2 years from the baseline (T 1 and T 2, respectively). The general trends of lung function parameters were estimated by ANOVA models for repeated measurements. For each lung function parameter, a longitudinal regression model was fitted. The analysis was performed with the software R release 4.2.3. The statistical significance was deemed when the p-value resulted lower than 0.05., Results: The general trends of lung function parameters showed a statistically significant variation of forced vital capacity (FVC%) and forced expiratory volume in 1s (FEV 1 %) from T 0 to T 1 (p = 0.0062, 0.0009) and no significant change for FVC%, FEV 1 % and forced expiratory flow 25-75% of VC (FEF 25/75 %) from T 1 to T 2 (p = 0.145, 0.210, 0.600, respectively). Notably, we found no correlation between the age at diagnosis and the lung function parameters at T 0 (r = 0.149, 0.103 and 0.042 for FVC%, FEV 1 % and FEF 25/75 %, respectively). Instead, a poor negative correlation resulted between the Reiff score and FVC%, FEV 1 % e FEF 25/75 % at baseline (Spearman coefficients: rho=-0.156, -0.204, -0.103, respectively)., Conclusions: A stable pulmonary function is detectable within 2 years follow up from baseline spirometry. The modified Reiff score should be considered as a good tool not only to quantify the radiological lung involvement but also the degree of pulmonary function impairment., Competing Interests: Declarations Ethics approval and consent to participate Not applicable for this study; the typology of the study does not require the local ethics committee approval. Consent for publication Not applicable. Conflict of interest The authors declare no conflict of interest., (© 2024. The Author(s).)

Multisystem inflammatory syndrome is a severe complication of SARS-CoV-2 infection in children (MIS-C). To date, data on long-term sequelae mainly concern cardiac outcomes. All ≤ 18 year olds consecutively admitted to the Buzzi Children's Hospital with a diagnosis of MIS-C between October 1, 2020, and May 31, 2022, were followed up for up to 12 months by a dedicated multidisciplinary team. They underwent laboratory tests, multi-organ clinical and instrumental assessments, and psychosocial evaluation. 56/62 patients, 40 M, mean age 8.7 years (95% CI 7.7, 9.7), completed the follow-up. Cardiological, gastroenterological, pneumological, and neurological evaluations, including IQ and EEG, were normal. Alterations of HOMA-IR index and/or TyG index, observed in almost all patients during hospitalisation, persisted in about a third of the population at 12 months. At 6 and 12 months respectively, impairment of adaptive functions was observed in 38/56 patients (67.9%) and 25/56 (44.6%), emotional and behavioural problems in 10/56 (17.9%) and 9/56 (16.1%), and decline in QoL in 14/56 (25.0%) and 9/56 (16.1%). Psychosocial well-being impairment was significantly more frequent in the subgroup with persistent glycometabolic dysfunction at 12 months (75% vs. 40.9% p < 0.001)., Conlusion: The mechanisms that might explain the long-term persistence of both metabolic alterations and neuro-behavioural outcomes and their possible relationship are far from being clarified. Our study points out to the potential long-term effects of pandemics and to the importance of a multidisciplinary follow-up to detect potential negative sequelae in different areas of health, both physical and psychosocial., What Is Known: • Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection. • Few data exist on the medium- and long-term outcomes of MIS-C, mostly focused on cardiac involvement. Emerging evidence shows neurological and psychological sequelae at mid- and long-term follow-up., What Is New: • This study reveals that MIS-C may lead to long-term glycometabolic dysfunctions joined to impairment in the realm of general well-being and decline in quality of life, in a subgroup of children. • This study highlights the importance of a long-term multidisciplinary follow-up of children hospitalised with MIS-C, in order to detect the potential long-term sequelae in different areas of health, both physical and psychosocial well-being., (© 2024. The Author(s).)

Down Syndrome (DS) is the most common chromosomal abnormality compatible with life. The life of patients suffering from DS can be strongly impacted by Recurrent Respiratory tract Infections (RRIs), leading to an increased rate of hospitalisation, a higher need for intensive care and fatality. With a literature review, we summarise here the main etiological factors for RRI in this category of patients, particularly focusing on airway malformations such as tracheomalacia, tracheal bronchus and bronchomalacia, comorbidities associated with the syndrome, like congenital heart diseases, dysphagia, gastroesophageal reflux, musculoskeletal involvement and obesity, and immunologic impairments, involving both innate and adaptive immunity. For these patients, a multidisciplinary approach is imperative as well as some preventive strategies, in particular vaccinations in accordance with their national schedule for immunization.

Background: Heterologous prime-boost schedules have been employed in SARS-CoV-2 vaccination, yet additional data on immunogenicity and effectiveness are still needed., Research Design and Methods: Here, we measured the immunogenicity and effectiveness in the real-world setting of the mRNA booster dose in 181 subjects who had completed primary vaccination with ChAdOx1, BNT162b2, or mRNA1273 vaccines (IMMUNO&#95;COV study; protocol code 18,869). The spike-specific antibody and B cell responses were analyzed up to 6 months after boosting., Results: After an initial slower antibody response, the heterologous ChAdOx1/mRNA prime-boost formulation elicited spike-specific IgG titers comparable to homologous approaches, while spike-specific B cells showed a higher percentage of CD21 - CD27 - atypical cells compared to homologous mRNA vaccination. Mixed combinations of BNT162b2 and mRNA-1273 elicited an immune response comparable with homologous strategies. Non-significant differences in the Relative Risk of infection, calculated over a period of 18 months after boosting, were reported among homologous or heterologous vaccination groups, indicating a comparable relative vaccine effectiveness., Conclusions: Our data endorse the heterologous booster vaccination with mRNA as a valuable alternative to homologous schedules. This approach can serve as a solution in instances of formulation shortages and contribute to enhancing vaccine strategies for potential epidemics or pandemics.

Background: Limited longitudinal data are available on immune response to mRNA SARS-CoV-2 vaccination in people living with HIV (PLWHIV); therefore, new evidence on induction and persistence of spike-specific antibodies and B cells is needed., Methods: In this pilot study we investigated the spike-specific humoral and B cell responses up to six months after vaccination with two doses of mRNA vaccines in 84 PLWHIV under antiretroviral therapy compared to 79 healthy controls (HCs)., Results: Spike-specific IgG persisted six months in PLWHIV with no significant differences compared to HCs, even though a significantly lower IgG response was observed in patients with CD4 + T cells < 350/mmc. The frequency of subjects with antibodies capable of inhibiting ACE2/RBD binding was comparable between PLWHIV and HCs a month after the second vaccine dose, then a higher drop was observed in PLWHIV. A comparable percentage of spike-specific memory B cells was observed at month six in PLWHIV and HCs. However, PLWHIV showed a higher frequency of spike-specific IgD - CD27 - double-negative memory B cells and a significantly lower rate of IgD - CD27 + Ig-switched memory B cells compared to HCs, suggesting a reduced functionality of the antigen-specific memory B population., Conclusions: The mRNA vaccination against SARS-CoV-2 elicits humoral and B cell responses quantitatively similar between PLWHIV and HCs, but there are important differences in terms of antibody functionality and phenotypes of memory B cells, reinforcing the notion that tailored vaccination policies should be considered for these patients., (© 2023. The Author(s).)

Background: A severe multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 has been described after infection. A limited number of reports have analyzed the long-term complications related to pro-inflammatory status in MIS-C. We evaluated multiorgan impairment at the 6-month follow-up in MIS-C., Methods: We enrolled 33 pediatric patients consecutively hospitalized for MIS-C and monitored for almost 6 months. The inter-relationship of patient's features and disease severity at admission with long term complications was studied by multivariate analysis., Results: Endo-metabolic derangement, cardiac injury, respiratory, renal and gastrointestinal manifestations and neurological involvement are part of the initial presentation. The most abnormalities appear to resolve within the first few weeks, without significant long term dysfunction at the 6-months follow-up, except for endocrine (non-thyroidal illness syndrome in 12.1%, insulin resistance in 21.2%) and neurological system (27.3% cognitive or psychological, behavioral, adaptive difficulties). Endocrine and heart involvement at admission represent a significant factor on the long term sequelae; however no association between severity score and long-term outcome was noted., Conclusions: The severity of initial clinical presentation may be associated to organ domain, however it is not related to long term sequelae. The prevalent organ restoration supports a predominant indirect immune-mediated injury triggered by a systemic inflammatory response; however a direct damage due to the viral entry could be not excluded. Eventhought our preliminary results seem to suggest that MIS-C is not a long-term risk condition for children health, a longer follow-up is mandatory to confirm this hypothesis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Zuccotti, Calcaterra, Mannarino, D'Auria, Bova, Fiori, Verduci, Milanese, Marano, Garbin, Zirpoli, Fabiano, Carlucci, Olivotto, Gianolio, De Santis, Pelizzo, Zoia, Dilillo and Biganzoli.)

Mesenchymal stromal cells (MSCs) have been proposed as a new therapeutic strategy to treat congenital and acquired respiratory system diseases. We describe a case report of an 18-month-old male patient with progressive chronic respiratory failure, associated with mutations of the surfactant protein C gene (SFTPC) due to c.289G > T variant p.Gly97Ser (rs927644577) and c.176A > G variant (p.His59Arg), submitted to repeated intravenous infusions of allogeneic bone marrow (BM) MSCs. The clinical condition of the patient was monitored. Immunologic studies before and during MSC treatment were performed. No adverse events related to the MSC infusions were recorded. Throughout the MSC treatment period, the patient showed a growth recovery. Starting the second infusion, the patient experienced an improvement in his respiratory condition, with progressive adaptation to mechanical ventilation. After the third infusion, five hours/die of spontaneous breathing was shown, and after infusion IV, spontaneous ventilation for 24/24 h was recorded. A gradual decrease of lymphocytes and cell subpopulations was observed. No variations in the in vitro T cell response to PHA were determined by MSC treatment as well as for the in vitro B cell response. A decrease in IFN-γ, TNF-α, and IL-10 levels was also detected. Even though we cannot exclude an improvement of pulmonary function due to the physiological maturation, the well-known action of MSCs in the repair of lung tissue, together with the sequence of events observed in our patient, may support the therapeutic role of MSCs in this clinical condition. However, further investigations are necessary to confirm the result and long-term follow-up will be mandatory to confirm the benefits on the pulmonary condition.

Congenital lung malformations (CLMs) involve anomalies of the lungs and respiratory tree such as congenital pulmonary airway malformation (CPAM), pulmonary sequestration (PS), bronchogenic cysts, congenital lobar emphysema, and bronchial atresia (BA). Although symptomatic lesions require surgical resection, the appropriateness of surgery for patients with asymptomatic malformations is a matter of ongoing debate. Limited data are available concerning the long-term follow-up of affected subjects. In this study, we sought to evaluate the long-term clinical and functional respiratory outcomes in children with CLMs who underwent surgical resection. We carried out a retrospective analysis of 77 children with CLMs who underwent pulmonary resection with at least one year of follow-up. The most common diagnoses were CPAM (50.65%), hybrid lesions (25.97%), lobar emphysema (11.69%), and PS (5.19%). The most common surgical approaches were lobectomy (61.3%), segmentectomy (10.7%), and pneumonectomy (5.3%). Acute post-surgery complications occurred in 31.2% of children. In addition, 73.7% experienced long-term complications, and we found no correlation between the presence of these complications and the sex of the patients, their age at time of surgery, the type of surgery undergone, the presence of symptoms prior to intervention, or acute complications after surgery. Pulmonary function tests revealed FEV1 Z-scores of <−2 SDs in 16 patients, and we found a significant correlation between pneumonectomy and the development of lung function deficit (p = 0.031). In conclusion, clinical and functional respiratory complications may occur in children with CLMs who undergo surgical resection. Long-term monitoring is needed to improve the management of asymptomatic patients.

Objectives: To compare postnatal magnetic resonance imaging (MRI) with the reference standard computed tomography (CT) in the identification of the key features for diagnosing different types of congenital lung malformation (CLM)., Methods: Respiratory-triggered T2-weighted single-shot turbo spin echo (ss-TSE), respiratory-triggered T1-weighted turbo field echo (TFE), balanced fast field echo (BFFE), and T2-weighted MultiVane sequences were performed at 1.5 T on 20 patients prospectively enrolled. Two independent radiologists examined the postnatal CT and MRI evaluating the presence of cysts, hyperinflation, solid component, abnormal arteries and/or venous drainage, and bronchocele. Diagnostic performance of MRI was calculated and the agreement between the findings was assessed using the McNemar-Bowker test. Interobserver agreement was measured with the kappa coefficient., Results: CT reported five congenital pulmonary airway malformations (CPAMs), eight segmental bronchial atresias, five bronchopulmonary sequestrations (BPS), one congenital lobar overinflation, one bronchogenic cyst, and three hybrid lesions. MRI reported the correct diagnosis in 19/20 (95%) patients and the malformation was correctly classified in 22/23 cases (96%). MRI correctly identified all the key findings described on the CT except for the abnormal vascularization (85.7% sensitivity, 100% specificity, 100% PPV, 94.1% NPV, 95% accuracy for arterial vessels; 57.1% sensitivity, 100% specificity, 100% PPV, 84.2% NPV, 87% accuracy for venous drainage)., Conclusions: MRI can represent an effective alternative to CT in the postnatal assessment of CLM. In order to further narrow the gap with CT, the use of contrast material and improvements in sequence design are needed to obtain detailed information on vascularization, which is essential for surgical planning., Key Points: • Congenital lung malformations (CLMs) can be effectively studied by MRI avoiding radiation exposure. • Crucial features of CLM have similar appearance when comparing CT with MRI. • MRI performs very well in CLM except for aberrant vessel detection and characterization.

Background: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering., Results: We report on two siblings of 13 and 9 years born to non-consanguineous healthy parents, who display growth delay, severe pulmonary fibrosis with fatigue, dyspnea on exertion and wheezing, atrophic skin with erythematosus lesions, rare eyelashes/eyebrows and pachyonychia. By exome sequencing, we identified two unreported ITGA3 missense mutations, c.373G>A (p.(G125R)) in exon 3 and c.821G>A (p.(R274Q)) in exon 6, affecting highly conserved residues in the integrin α3 extracellular N-terminal β-propeller domain. Homology modelling of α3β1 heterodimer fragment, encompassing the mutation sites, showed that G125 plays a pivotal structural role in the β-propeller, while R274 might prevent the interaction between integrin and urokinase complex., Conclusion: We report a variant of ILNEB syndrome in two siblings differing from the previously reported patients in the lack of nephrotic impairment and survival beyond childhood. Our siblings are the first reported compound heterozygous for ITGA3 mutations; this state as well as the hypomorphic nature of their p.(R274Q) mutation likely account for their survival.

Objectives: The objective of our study is to retrospectively analyze a single-centre series of antenatally detected pulmonary malformations (PM) and to evaluate their postnatal outcome., Materials and Methods: We retrospectively reviewed all prenatally diagnosed PM patients referred to our Centre in the period between January 1999 and December 2014. All cases were diagnosed by one of our Maternal-Fetal Specialists by US examination. Congenital pulmonary airway malformation (CPAM) volume ratio (CVR), development of fetal complications, need for fetal therapy, need for neonatal resuscitation and timing of surgery were analyzed., Results: A total of 70 fetuses were diagnosed with a PM in the period of study. An initial CVR higher than 1.6 was found in 16/70 patients (22.8%); 14/16 developed fetal complications (p less than .0001). Fifty-six fetuses (80%) did not develop any complications during pregnancy. To all complicated cases a prenatal treatment was offered, carried out in 12 (1 termination, 1 refusal). Survival rate was 100%. Sixty-three fetuses (90%) were asymptomatic at birth and did not require any neonatal resuscitation. Six patients submitted to fetal therapy and one untreated presented with neonatal respiratory distress, required mechanical ventilation at birth and early surgery in the neonatal period (7/70, 10%)., Conclusion: CVR > 1.6 and the presence of fetal complications can be considered as predictors of respiratory distress at birth and of the need for early surgery. Nevertheless, the vast majority of PM are asymptomatic at birth and only a small group of fetuses require prenatal and postnatal treatment and support.

Purpose: To evaluate renal involvement in tuberous sclerosis complex (TSC)., Materials and Methods: A series of 24 TSC patients (19 with genetically demonstrated disease), underwent abdominal 1.0-T MR imaging with axial/coronal T1- and T2-weighted scans, with/without fat saturation. We looked for angiomyolipomas (AMLs) and cysts in 47 kidneys of 24 patients. We evaluated the percentage of parenchymal involvement by manual contouring on the coronal scans in 39 kidneys of 20 patients., Results: We detected AMLs in 15/24 (63%) patients and in 27/47 (57%) kidneys, cysts in 14/24 (58%) and in 26/47 (55%); respectively. AMLs were found in 2/4 TSC1 and in 11/15 TSC2 patients, cysts were found in 2/4 TSC1 and in 9/15 TSC2 patients. The global renal involvement ranged from 0 to 32% (median, 18%) in TSC1 and from 0 to 100% (median, 39%) in TSC2 patients. A fair correlation (r=.464) was found between patient's age and renal involvement, a good correlation (r=0.655) between renal involvement and creatinine clearance., Conclusion: Renal parenchyma of TSC patients can be evaluated with MR imaging. A detectable renal involvement was found in 83% of patients, higher in TSC2 than in TSC1. Renal function seems to correlate with renal involvement quantified with MR imaging.

Enteric duplication cysts are uncommon congenital abnormalities with epithelial lining. They are cystic or tubular structures intimately attached to a portion of the gastrointestinal tract; they are usually located on the mesenteric site of the digestive tract sharing common blood supply. Isolated cystic duplications are an extremely rare variant with their own blood supply: in literature only five cases have been reported. We present our four cases series of this uncommon anomaly.

Background and Purpose: Epileptic syndromes or neurodevelopmental delay may be associated with congenital anomalies of the shape or the orientation of the hippocampus. Scarce data are available about quantitative hippocampal developmental changes during fetal life, in particular about the progressive rotational changes of the hippocampal infolding angle (HIA), which can be considered a hallmark of hippocampal development. We hypothesized that prenatal MR imaging could demonstrate the progressive rotation of the hippocampus, providing quantitative data by means of the HIA determination., Methods: We retrospectively selected 62 fetal MR imaging cases with normal brain at prenatal and postnatal imaging. The gestational age ranged from 20 to 37 weeks. The coronal section encompassing the pons was used to perform the measurement of HIA. HIA was defined as the angle between the line connecting the lateral margin of the cornu ammonis with the medial superior margin of the subiculum and the line passing through the midline structures., Results: A significant positive correlation was found between the HIA value and the gestational age. The HIA was generally below 70 degrees before the gestational week 25 and above 70 degrees after week 30., Conclusion: Prenatal MR imaging allowed the progressive rotation of hippocampus to be detected during fetal life, providing normative data about HIA changes. These data could support further investigations to assess how fetal HIA anomalies might affect postnatal neurologic outcome.

We report on the brain diffusion MR imaging findings in a neonate with severe hypernatremic dehydration, which resulted in cerebral edema (osmotic edema) and in apparent diffusion coefficient decrease, despite a careful and slow rehydration. This report provides in vivo insight into nervous cell response to osmotic challenge.

Rhombencephalosynapsis (RES) is a rare congenital abnormality characterized by vermian agenesis and fusion of the cerebellar hemispheres. In the 3 cases reported here, prenatal magnetic resonance imaging clearly depicted cerebellar features characteristic of RES, allowing a definite diagnosis.

The presence of cystic dilation of the lacrimal drainage system (dacryocystocele) in the fetus must be differentiated from less benign paraocular masses. Three cases of dacryocystocele studied during fetal life by ultrasound and magnetic resonance (MR) imaging are reported. The accuracy of prenatal MR imaging facilitated a definite diagnosis depicting the characteristic triad of dacryocystocele: paraocular cystic mass in the medial canthus region, nasolacrimal duct enlargement, and intranasal cyst.

The case of a 24-week-old fetus that showed features suggestive of focal cortical developmental anomaly at prenatal MR imaging is presented. The anomaly was confirmed to be polymicrogyria by 34-week prenatal and the 3-day postnatal MR imaging studies. The report demonstrates that the development of polymicrogyria can be assessed throughout different stages by prenatal MR imaging. In the case reported, the additional presence of periventricular heterotopia strongly suggests that a neuronal migration alteration coexisted with a postmigrational disorder.

The death of 1 twin of monochorionic pairs is associated with a significant risk of brain hypoxic-ischemic damage in the survivor. Ultrasound may diagnose cerebral anomalies only a few weeks after the event. We report 3 cases of single survivors of monochorionic-twin pregnancies in which prenatal magnetic resonance imaging detected brain changes earlier and with better definition of the brain abnormalities than ultrasound.