BackgroundFamilial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.Case presentationA four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive. He had extremely lipemic serum and anemia. Intracranial computed tomography (CT) revealed lipid collection which was suspected to be epidermoid cyst, and also lipid deposits with extra-axial and intravascular location. This was initially described as a ruptured intracranial epidermoid cyst with dissemination of lipid content, including intravascular dissemination. Together with clinical signs of raised intracranial pressure it was discussed whether the cyst should be surgically removed. Since the blood sample appearence was milky and the child was rather stable, surgery wasn't performed and the treatment with exchange transfusion (ET) was started immediately. Only after ET it was possible to obtain laboratory results including lipid status (triglycerides were 106.8 mmol/l). At that point we suspected that the underlining cause is a genetic disease. Three cycles of plasmapheresis followed ET, after which symptoms resolved almost completely, despite remaining lipid deposits on brain CT scan and brain ultrasound, with some signs of regression. After these repeated imaging studies, it was concluded that the 'cyst' was actually the largest brain lipid collection. The definitive genetic diagnosis confirmed FCS. A short course of insulin, antioxidants and fibrates was initially given, but discontinued after the diagnosis confirmation due to lack of supporting data in the literature. Effective and the only maintenance treatment was the diet consisting of formula low in fat and high in medium-chain triglycerides. On the discharge the infant's neurological status, except mild hypotonia, was normal, he was thriving well, had good appetite and no anemia.ConclusionsThis is a rare case of FCS presenting with neurological symptoms that mimicked the clinical picture of ruptured intracranial epidermoid cyst, which was initially the differential diagnosis of this case. Initial interpretation of imaging studies didn't delay treatment. With the right treatment, the symptoms of the disease could be reversible with satisfactory outcome.

Background/Objectives: Continuous renal replacement therapy (CRRT) is an important treatment method that is becoming a commonly-used procedure in neonatal intensive care units (NICUs), especially in critically-ill neonates. Methods: We conducted a retrospective study aimed to evaluate factors influencing the outcomes of CRRT in neonates and preterm infants. The study analyzed data from 41 newborns treated with CRRT at our NICU over a ten-year period. Demographic, clinical, and laboratory parameters were assessed, including gestational age, birth weight, PRISM III score, and laboratory markers like urea, creatinine, and potassium levels, as well as characteristics of CRRT. Results: Our research found that the duration of CRRT, the presence of anuria, and higher potassium levels after initiation of CRRT were significant predictors of a poor outcome. Despite the lack of significant correlation between demographic characteristics, PRISM III score and the outcome, our findings highlight the importance of timely CRRT initiation and efficient management to improve survival. Conclusions: Our study identified several significant prognostic indicators in neonates undergoing renal replacement therapy. While these findings provide valuable insights, further research is needed to establish clear theoretical guidelines and improve clinical decision-making.

Background: Genetic variants within the 17q21 locus and epigenetic modifications regulating immune function have been associated with childhood asthma, yet reported effect sizes vary across studies due to methodological heterogeneity and differences in study design. Objectives: To systematically synthesize evidence on genetic and epigenetic markers associated with childhood asthma using a two-level random-effects meta-analysis integrating published meta-analyses and independent cohort studies. Methods: PubMed/MEDLINE and Embase were searched for studies published in English between 2011 and 2024. Eligible studies included pediatric populations with asthma or wheeze phenotypes assessing predefined genetic (ORMDL3, GSDMB) or epigenetic (AHRR, FOXP3, CpG loci) markers and reporting odds ratios (ORs) or sufficient data for their derivation. Risk of bias was assessed using established quality criteria for observational studies. Quantitative synthesis was performed using a two-level random-effects model with restricted maximum likelihood estimation. Results: Six studies comprising 51,235 children met the inclusion criteria. The overall pooled estimate demonstrated a significant association between molecular markers and childhood asthma (pooled OR = 1.45; 95% confidence interval (CI) 1.30–1.61). Subgroup analyses showed comparable effects for meta-analytic data (OR = 1.39; 95% CI 1.24–1.56) and cohort studies (OR = 1.47; 95% CI 1.31–1.64). Genetic markers yielded a pooled OR of 1.38 (95% CI 1.21–1.56), while epigenetic markers showed a pooled OR of 1.48 (95% CI 1.27–1.73). Heterogeneity in asthma definitions, methylation platforms, and limited representation of non-European populations may affect generalizability. Conclusions: This systematic review and two-level meta-analysis provides robust evidence that both genetic and epigenetic variations contribute to childhood asthma susceptibility and supports integrative multi-omic approaches for early-life risk stratification.

Complicated community-acquired pneumonia (cCAP) remains a major cause of morbidity in children. Although pneumococcal conjugate vaccines (PCVs) have reduced invasive disease, severe complications such as empyema and lung abscess persist. A retrospective analysis was conducted on 69 children treated at the University Children’s Hospital Belgrade between 2019 and 2024. Data included demographic characteristics, pneumococcal vaccination status, and radiologically confirmed complications. Patients were classified by residence and vaccination status. Statistical analysis included chi-square (χ²) tests, odds ratios (ORs) with 95% confidence intervals, and multivariable logistic regression. Pleuropneumonia and pleural effusion were the most frequent complications, while empyema and lung abscess were the most severe. Both occurred significantly more often in unvaccinated children (p = 0.0054 and p = 0.0027). Multivariable analysis confirmed vaccination as an independent protective factor against empyema (adjusted OR = 0.19, 95% CI 0.06–0.61). No significant regional differences were observed after accounting for vaccination status. Vaccination showed a strong protective effect against empyema and lung abscess (OR = 0.24 and 0.04, respectively). Unvaccinated children had significantly longer hospital stays, indicating a more severe clinical course. Prolonged hospitalization was associated with intensified antibiotic therapy, reflecting underlying disease severity. Lack of pneumococcal vaccination is strongly associated with severe complications in children with cCAP. Maintaining high PCV coverage remains essential, alongside early recognition and timely management of pleural disease.

Introduction. Coronavirus disease 2019 (COVID-19) pneumonia is a potentially life-threatening condition that can require the use of mechanical ventilation (MV) and is rare in the neonatal population. Giant pneumatocele is an extremely rare complication of MV, which is practically unknown in neonates. Case report. We report a case of a two-week-old premature infant who developed severe acute respiratory distress syndrome (ARDS) due to COVID-19 and pneumatocele as a complication of MV. The newborn was admitted in a life-threatening condition with persistent hypercapnia, which, therefore, required pro-longed MV. Chest computed tomography (CT) was done to assess the degree of fibrosis caused by COVID-19, and as an accidental finding, a pneumatocele was observed. The patient was immediately started on high-frequency oscillatory ventilation as a way of conservative treatment. After prolonged duration and gradual separation from MV, the patient was extubated, and oxygen therapy was gradually discontinued. The patient was discharged in good condition, and the follow-up chest CT showed complete regression of pneumatocele. Conclusion. Optimization of MV parameters and adequate treatment of complications such as ARDS or giant pneumatocele in neonates is an area that still requires further research, primarily due to the specificity of the neonatal age compared to adult patients.

Background/Objectives: Hypertrophic cardiomyopathy (HCM) in childhood is associated with a risk of adverse cardiovascular events despite preserved left ventricular (LV) ejection fraction (EF). The aim of this study was to evaluate echocardiographic parameters of longitudinal LV systolic function and determine their relationship with cardiac magnetic resonance (CMR) findings and major adverse cardiovascular events (MACE) in children and adolescents with HCM. Methods: This single-centre prospective observational study enrolled 31 children and adolescents with HCM and preserved LV EF. Echocardiographic assessment included mitral annular plane systolic excursion (MAPSE), tissue Doppler mitral annulus systolic velocity (s′), mitral annular displacement index (MADI), and LV global longitudinal strain (GLS). Investigated CMR parameters encompassed LV mass, maximal wall thickness, and late gadolinium enhancement (LGE). Associations between echocardiographic and CMR findings were analyzed, and the discriminative value of longitudinal function parameters for MACE was assessed. Results: Impaired longitudinal systolic function was frequently detected in our cohort. Lower MAPSE and s′ z-scores were present in 61.3% of patients, reduced MADI in 96.8%, and reduced LV GLS in all subjects. Patients with MACE showed significantly lower MADI (p < 0.001) and worse LV GLS (p = 0.003). An exploratory LV GLS cut-off value of −12.1% showed discrimination for MACE in this cohort, with 75% sensitivity and 95.7% specificity. Echocardiographic parameters significantly correlated with CMR markers of hypertrophy and fibrosis, particularly LV GLS, which demonstrated the strongest associations with LV mass and the presence and extent of LGE. Conclusions: Echocardiographic parameters of longitudinal LV systolic function could contribute to closer clinical surveillance in children and adolescents with HCM. LV GLS may identify subtle myocardial dysfunction and provide exploratory prognostic information; however, its role in risk stratification requires prospective validation in larger pediatric HCM cohorts.