Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediate phenotypes has been reported. Currently one of the most effective treatments is biological therapy (with interleukin-1 antagonist anakinra or tumour necrosis factor-α inhibitor etanercept). The patient in this case has a phenotype contributing to a severe disease that caused the symptoms to manifest very early, in the prenatal period. Mevalonate kinase deficiency was suspected on the basis of clinical (hydrops fetalis, hepatosplenomegaly, hypotonia) and laboratory signs (anaemia, intense acute phase reaction, increased urinary excretion of mevalonic acid). Mutation analysis of the MVK gene confirmed the biochemical diagnosis. Treatment with the interleukin-1 antagonist anakinra was started (minimal dose of 1 mg/kg/day) and revealed its efficacy after three days. Our case highlights the need for a very detailed clinical and laboratory assessment in new-borns with any suggestion of autoinflammatory disorders. It is important that patients are diagnosed as early as possible to provide better multidisciplinary follow-up and therapy when needed.

Background and objectives: Respiratory distress syndrome (RDS) frequently necessitates respiratory support. While non-invasive methods are typically the preferred approach, mechanical ventilation becomes necessary for patients with insufficient response. Our study aimed to compare two common respiratory support modes, volume-targeted mechanical ventilation and non-invasive ventilation continuous positive airway pressure (CPAP) and high-flow nasal cannula (HFNC), using electrical impedance tomography. Materials and Methods: Infants with very low birth weight and gestational ages of less than 32 weeks were eligible for inclusion in the study. All enrolled infants were beyond the transitional period (>72 h of age). The infants were divided into two groups: infants receiving invasive respiratory support through an endotracheal tube and infants receiving non-invasive respiratory support. We used electrical impedance tomography to assess end-expiratory lung impedance (EELZ), DeltaZ, heterogeneity, and regional ventilation distribution. Patients were evaluated at 0, 30, and 60 min after assuming the supine position to examine potential time-related effects. Results: Our study initially enrolled 97 infants, and the final analysis included a cohort of 72 infants. Ventilated infants exhibited significantly larger EELZ compared to their non-invasive counterparts (p = 0.026). DeltaZ was also greater in the invasive respiratory support group (p < 0.001). Heterogeneity was higher in the non-invasive group and did not change significantly over time. The non-invasive group demonstrated significantly greater ventilation in the dependent lung areas compared to intubated patients (p = 0.005). Regional distribution in the left lung was lower than in the right lung in both groups; however, this difference was significantly more pronounced in intubated patients (p < 0.001). Conclusions: Our study revealed that volume-targeted mechanical ventilation results in higher EELZ and DeltaZ compared to spontaneously breathing infants receiving non-invasive respiratory support. However, lung heterogeneity was lower during mechanical ventilation. Our study also reaffirmed that spontaneous breathing promotes greater involvement of the dependent lung compared to mechanical ventilation.

Background and objective: Hemodynamically significant patent ductus arteriosus (hsPDA) can cause ductal steal and contribute to poor outcomes in preterm infants. Near-infrared spectroscopy (NIRS) allows us to continuously evaluate regional tissue oxygenation (rSpO₂) and perfusion changes in underlying organs. The aim of this study was to evaluate the effect of medical treatment for hsPDA on cerebral and renal rSpO₂ in infants less than 32 weeks of gestational age, and older than 72 h of life. Materials and methods: Infants with a gestational age of <32 weeks with hsPDA were prospectively studied before and during medical treatment. Two-site (cerebral and renal) rSpO₂ monitoring by NIRS was performed 1 h before treatment (T0) and 24 h (T1), 24–48 h (T2), 48–72 h (T3) after the infusion of the first drug dose. Results: A total of 21 infants were studied. The mean day of life at treatment initiation was 8.2 (SD, 2.75). The DA diameter, LA/Ao ratio, and resistive index in the anterior cerebral artery (RI ACA) were significantly lower after treatment (p < 0.05). There were no significant differences in cerebral rSpO₂, cerebral fractional tissue oxygen extraction (FTOE), and SpO₂ comparing different time points. A significantly higher renal SpO₂ value was recorded at T2 as compared with T0 (75.0%, SD 4.9%, vs. 69.4%, SD 7.6%; p < 0.013), while for renal FTOE, a tendency to lower values at T2 was observed (0.18, SD 0.05, vs. 0.24, SD 0.09; p = 0.068). Conclusions: Late (later than 7 days postpartum) hsPDA medical treatment with paracetamol or ibuprofen completely closed the duct only in a small proportion of preterm infants, despite a statistically significant reduction in the DA diameter, LA/Ao ratio, and RI ACA. Continuous renal, not cerebral, NIRS measurements can help to anticipate the efficacy of medical treatment of hsPDA in preterm infants. Large-scale prospective studies are needed to ascertain that renal and cerebral NIRS can be used as a reliable tool for evaluating the effectiveness of medical treatment for hsPDA.