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Introduction: We report the case of a neonate diagnosed with severe hemophilia A (HA) and conduct a literature review of cases of severe HA presenting at the neonatal age to help define the clinical diagnostic findings and existing differences between the sporadic and familial onset of this condition. Report of a Case: A 6-day-old newborn presented with worsening pallor, inappetence, and hyporeactivity for 48 h. The diagnosis was severe hemophilia A (HA), leading to an unfavorable outcome. A literature review focusing on case reports and series focusing on the clinical expression of HA in neonates was conducted, documenting clinical presentation, family history, and outcomes. Literature review: Forty patients were included. HA was observed in five cases (12.5%) of very preterm births (≤32 weeks) and in four cases (10%) of moderately or late preterm births. Seventeen patients (43%) had a family history, with inheritance being sporadic (21 newborns, 53%) or acquired (2 cases, 4%). Clinical onset typically occurred within the first week of life (approximately 8 out of 10 cases), while only three cases (7.5%) had onset after the first month. Inherited cases presented with hemorrhagic states (nine cases), hypovolemic shock (five cases), or intracranial hypertension (two cases). Sporadic cases showed localized bleeding (11 cases), hypovolemic shock (5 cases), or neurological symptoms like seizures and anisocoria (5 cases). Acquired cases included severe intracranial hemorrhage in one case. Conclusions: Neonatal HA can manifest with severe symptoms and rapid progression, making early diagnosis crucial. Non-specific signs and the absence of coagulophaty disorders in family history can delay diagnosis. Symptoms like prolonged bleeding, cutaneous hematomas, or intracranial bleeding necessitate ruling out major coagulopathy, and neurological signs require immediate imaging to exclude intracranial bleeding. [ABSTRACT FROM AUTHOR]

Background: Thirty years ago, the first attempt by Saliba and colleagues was made to reduce the negative effects (hypercarbia) of exogenous surfactant (ES) by slowing its administration. Sixteen years later, we observed the first less invasive surfactant administration (LISA) attempt by Kribs and colleagues. Many studies, since that time, have tried to minimize the invasiveness of ES and subsequent cerebral blood flow perturbations through studies using near-infrared spectroscopy (NIRS). We sought to address this medical challenge by identifying a less problematic modality of ES administration by delivering multiple aliquots of ES instead of a single one, as typically performed. The aim of this study was to test the hypothesis that a different way of administering ES using more aliquots could be a safe alternative that should be assessed in further studies. Methods: Patients between 26 + 0 and 35 + 6 weeks of gestational age (GA) requiring ES administration were enrolled (April 2023–February 2024). Differently fractioned doses were delivered according to an arbitrary standard dosage (0.3 mL per aliquot in babies < 29 weeks; 0.6 mL in babies ≥ 29 weeks), while NIRS and transcutaneous CO2 (tCO2) monitoring were always performed. ES's effectiveness was assessed based on the reduction in the Oxygen Saturation Index (OSI) after administration. Persistent desaturation, bradycardia, and airway obstruction were defined as adverse effects and used to evaluate safety during ES administration, as well as variability in NIRS-rSO2 values and tCO2. Results: Twenty-four patients were enrolled with a median GA of 29 weeks (IQR 4.5) and BW of 1223 ± 560 g. In addition, 50% of the cohort received fewer than three aliquots, whereas the other 50% received more than three. Monitoring was started before the procedure and continued 30′ after the last ES aliquot administration. The variability in NIRS-SpO2 values was significantly higher in the group (p = 0.007) with a lower number of aliquots administered. Similarly, increased NIRS-rSO2 values (p = 0.003) and increased tCO2 levels (p = 0.005) were observed in infants who underwent an ES split after the administration of a low number of aliquots. Conclusions: Our data obtained from the group with > 3 fractionated doses of ES seem to justify the preparation of a more robust study, as the combination of reduced NIRS variability and reduced tCO2 maximum levels is consistent with more stable cerebral blood flow during the challenging time of ES administration. [ABSTRACT FROM AUTHOR]