Background: MTHFR polymorphism has been inconsistently linked to thrombotic events—some studies have shown its contribution to venous thrombosis, arterial thrombosis, and ischemic stroke, whereas others have found no statistically significant correlation between them. Methods: A descriptive case series study was performed in the Neonatal Intensive Care Unit of “Marie Sklodowska Curie” Emergency Clinical Hospital for Children in Bucharest, Romania. Results: All patients had positive results for MTHFR variants; 14 patients were positive for compound heterozygosity, 13 patients for MTHFR C677T (seven of which were homozygous), and 13 patients for MTHFR A1298C (three of which were homozygous). Eighteen patients received anticoagulants (heparin, enoxaparin, or bivalirudin), and thrombolytics (alteplase) were administered in six cases. In one case, a thrombectomy was performed; in another, vascular plasty was undertaken. Only in six cases was complete revascularization possible. Incomplete revascularization occurred for one patient with a negative outcome. Conclusion: The particularity of this case series is that every patient in our unit who developed thrombi had a positive genetic result for MTHFR mutations. MTHFR mutations should be regarded as a thrombotic risk factor for critically ill patients, and screening for MTHFR mutations should be performed in every admitted patient to intensive care units, thus achieving the prevention of thrombi.

(1) Background: Transposition of the great arteries (TGA) is the most common congenital heart disease, accounting for 5–7% of all cardiac anomalies, with a prevalence of 0.2–0.3 per 1000 live births. (2) Aim: Our main objectives were to evaluate the clinical safety of balloon atrial septostomy in neonates and the possible complications. Furthermore, we tried to establish whether the procedure should be performed in all TGA patients with small atrial septal defects, regardless of oxygen saturation, within a center where corrective surgery cannot be performed on an emergency basis due to the lack of a permanent cardiac surgery team for arterial switch surgery. (2) Methods: We conducted an observational, retrospective, single tertiary-care center study between January 2008 and April 2022, which included 92 neonates with TGA transferred to our institution for specialized treatment. (3) Results: The median age at the time of the Rashkind procedure was four days. The rate of immediate complications after balloon atrial septostomy (BAS) was high (34.3%), but most were transient (metabolic acidosis and arterial hypotension—21.8%). Twenty patients with TGA managed in our hospital underwent definitive and corrective surgical intervention (arterial switch operation) at a median age of 13 days. Most patients (82.6%) were term neonates, but 16 were born preterm. (4) Conclusions: Urgent balloon atrial septostomy is often the only solution to restore adequate systemic perfusion. Bedside balloon atrial septostomy is a safe, effective, and initial palliative intervention in neonates with TGA, which can be performed in the neonatal unit.

Congenital high airway obstructive syndrome (CHAOS) is a rare congenital anomaly, frequently caused by laryngeal or tracheal atresia, tracheal stenosis, and obstructing laryngeal cysts. This is a congenital malformation, often fatal, with an unknown prevalence. Laryngeal atresia is the most frequent cause. We report a case of an intrauterine diagnosis of CHAOS and ascites in a 17-week fetus delivered at 38 weeks of gestation without other associated malformations. A fetoscopic procedure was performed at 22 weeks of gestation. An attempt was made to perforate the affected area to ensure pulmonary fluid circulation and the ascites’ resolution. After birth, a tracheostomy was performed. The patient was mechanically ventilated until 11 months of age, when she was discharged with no cerebral or other complications of immediate postnatal anoxia or episodes of respiratory arrest. A laryngotracheoplasty was performed at 2 years old, but decannulation was not possible due to certain complications. At 5 years old, a new surgical intervention was performed, which allowed decannulation 6 months later.

Background: Neonates have an increased risk of vitamin D insufficiency due to the inadequate supplementation of mothers and infants after birth. Insufficiency of vitamin D is frequently detected in critically ill patients and is associated with disease severity and mortality. There is yet to be a consensus on the appropriate regimen of vitamin D3 supplementation in high-risk infants. Aim: The main objectives of this study were to determine the prevalence of vitamin D insufficiency in neonates with severe comorbidities and to evaluate whether high-dose vitamin D3 oral administration leads to normal plasmatic concentrations without side effects. Methods: The current study was a randomized, prospective trial of 150 patients admitted to the Neonatal Intensive Care Unit (NICU) at Maria Sklodowska Curie Emergency Children’s Hospital in Bucharest. Patients were divided into three subgroups based on the chronological order of their admission date. Each subgroup received a different pharmaceutical product of vitamin D3. We administered a dosage of 10,000 IU/kg of vitamin D3 orally in three steps, as follows: at admission, one week after admission, and one month from the first administration, targeting a serum 25-hydroxyvitamin D concentration of at least 40 ng/mL. Results: Most neonates (68%) achieved an optimum vitamin D level after one month, even though only 15% of patients had an optimum concentration at admission. After the first high dose of vitamin D3, there was a 27% increase in the mean vitamin D plasmatic level compared to admission levels. However, after one month, the concentrations decreased in all subgroups due to the gap of three weeks between the last two administrations. Conclusions: An intermittent, weekly high-dose vitamin D3 oral administration leads to a steadier increase and normalization of vitamin D concentration in most critically ill neonates. However, high-dose vitamin D3 administered orally after three weeks decreases vitamin D levels in this high-risk population.

The vein of Galen malformations (VoGMs) is mainly correlated with the retention of an embryonic pattern of vascularity, inducer of vein of Galen dilation, and formation of arteriovenous communications that give rise to the risk of systemic shunting, causing cardiac dysfunction, vascular steal, and venous hypertension. This is a rare cerebral vascular malformation in the newborn, accounting for 1% of all cerebral arteriovenous malformations and occurring in approximately 1 in 25,000–50,000 live births. We review nine cases of newborns diagnosed with vein of Galen malformations (VoGMs) to assess whether this pathology demonstrates a marked improvement over the past 13 years in diagnostic accuracy, treatment approaches, and patient survival rates within our clinic. Medical treatment was focused on providing inotropic support and tightly controlled peripheral and pulmonary vasodilation with the aim of overriding the effects of high output heart failure. Most of the patients underwent liver failure and flow-mediated pulmonary hypertension, while half of the newborns expressed anomalies of the nervous system due to impaired cerebral hemodynamics. Given the unavailability of endovascular treatment in our unit, which predisposes the newborns to a higher vital risk, we recognize the importance of delivering tailored intensive care aimed at maintaining cardiorespiratory and hemodynamic stability until a curative intervention can be performed in a specialized center.

Capillary malformation–arteriovenous malformation syndrome is a rare spectrum of vascular anomalies characterized by capillary malformations and high-flow vascular malformations, caused by loss-of-function mutations in the RASA1 and/or EPHB4 genes. These mutations disrupt vascular differentiation and lead to complex malformations involving the brain, skin, and systemic vasculature. Since the first description in 2003, more than 200 cases have been reported, but intracranial arteriovenous shunts during the neonatal period remain extremely rare, as well as reports of the dual mutation RASA1 + EPHB4 or the immunological impact of the EPHB4 mutation. We report three cases of neonates presenting with early-onset high-flow shunts, each exhibiting a distinct genetic signature: CM-AVM1 (RASA1 mutation), CM-AVM2 (EPHB4 mutation), and dual variant (combined EPHB4 and RASA1 mutations). We analyzed and compared the clinical evolution, Doppler ultrasound trends, EEG, MRI and genetic data to highlight the distinct genotype–phenotype spectrum. Early multimodal hemodynamic evaluation of neonates with CM-AVM allows the identification and optimum management of life-threatening shunts at the earliest possible stage.