Background: Infantile hemangiomas (IH) are the most common benign vascular tumor in infants. Despite their spontaneous regression, IH can cause aesthetic, functional, and vital organ complications. Hepatic involvement requires particular attention in infants with multiple cutaneous hemangiomas. While magnetic resonance imaging (MRI) is the established diagnostic standard, contrast-enhanced ultrasound (CEUS) emerges as a promising alternative. Objective: To compare the diagnostic accuracy of CEUS and MRI in hepatic IH detection and characterization, and to evaluate potential diagnostic imaging markers. Materials and Methods: A retrospective multicenter analysis was conducted to identify infants diagnosed with hepatic IH who underwent CEUS, MRI, or both between 2016 and 2024. Lesion size and count were compared in patients who underwent both imaging modalities. Data from 24 patients was included in the analysis. Results: Of 24 patients, 15 underwent only CEUS, 3 underwent only MRI, and 6 received both imaging modalities. CEUS findings were comparable to MRI regarding lesion size and number, with CEUS demonstrating capability to detect lesions as small as 4 mm. Treatment decisions were predominantly based on CEUS findings. Conclusion: CEUS showed diagnostic accuracy comparable to MRI in hepatic hemangioma evaluation, without compromising disease severity assessment. CEUS advantages include real-time imaging and avoidance of sedation or anesthesia in young patients. These findings support CEUS as a viable, less invasive, and resource-efficient alternative to MRI for hepatic IH evaluation, enabling optimization of diagnostic and treatment protocols. SUMMARY STATEMENT: CEUS provides accurate diagnosis and monitoring of hepatic IH, demonstrating comparable or potentially superior detection capabilities to MRI, while offering practical advantages for infants. KEY RESULT: Diagnostic Accuracy: CEUS accurately detects lesion number and size. Vascular Detailing: CEUS may offer superior real-time visualization of vascular patterns. Clinical Benefits: CEUS is non-invasive, cost-effective, and suitable for repeated assessments in non-sedated patients, making it an ideal diagnostic modality for the assessment of suspected hepatic IH.

Introduction: Lead is an environmental toxin that may cause severe damage to vital organs including the brain, kidneys, liver, and bones. Children are particularly susceptible due to higher rates of gastrointestinal absorption and detrimental effects of lead on their developing nervous systems. Methods: This report highlights the case of a 4-year-old boy with severe lead poisoning resulting from prolonged exposure to ayurvedic herbal supplements. Results: The child was initially admitted with anemia, arterial hypertension, abdominal pain, and mild neurological impairment. His blood smear revealed pronounced basophilic stippling of erythrocytes. His venous blood lead level (BLL) was markedly elevated at 123 μg/dl. Detailed review of his history uncovered that he had been ingesting an ayurvedic herbal medicine for asthma. He received chelation therapy with 2,3-dimercapto-1-propanesulfonic acid and calcium disodium EDTA, resulting in rapid resolution of symptoms and gradually decreasing BLLs. Conclusions: The case is a striking example of the significant health risks due to heavy metal contamination in ayurveda products. Better strategies to control the composition of ayurvedic products and educate families about their possible heavy metal contamination are essential to reduce the risk of lead poisoning.

Objectives: To evaluate laboratory parameters and to compare diagnostic findings of contrast-enhanced ultrasound (CEUS) and magnetic resonance imaging (MRI) in a cohort of patients with hepatic infantile hemangiomas (IH). Materials and Methods: A retrospective multicenter analysis was conducted to identify infants diagnosed with hepatic IH who underwent CEUS, MRI, or both between 2016 and 2024. Lesion size and count were compared in patients who underwent both imaging modalities (6 patients). Data from 24 patients were included in the analysis; in 18 of them, only a single diagnostic imaging examination was performed. Results: Laboratory parameters were mostly unremarkable, only Pro-Brain Natriuretic Peptide (proBNP) was elevated in a subset of patients. Of 24 patients, 15 underwent only CEUS, 3 underwent only MRI, and 6 received both imaging modalities. CEUS findings were comparable to MRI regarding lesion size and number. Treatment decisions were predominantly based on CEUS findings. Conclusion: Although laboratory abnormalities were uncommon, targeted assessment of proBNP and thyroid function may be clinically relevant in infants with extensive hepatic involvement. Both imaging modalities detected hepatic IH. CEUS demonstrated diagnostic findings largely consistent with MRI in hepatic hemangioma evaluation, suggesting its potential as a complementary tool without compromising disease severity assessment. CEUS advantages include real-time imaging and avoidance of sedation or anesthesia in young patients. These findings support the potential role of CEUS as a viable, readily available, and resource-efficient alternative to MRI for the evaluation of hepatic IH, enabling optimization of diagnostic and treatment protocols.

Ukraine’s healthcare system has shown remarkable resilience in continuing newborn screening (NBS), beyond the challenges of war. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID)–purine nucleoside phosphorylase (PNP) deficiency. Ukraine successfully carried out NBS on a neonatal dried blood spot (DBS) by real-time PCR, which showed remarkably reduced T-cell receptor and kappa-deleting recombination excision circles (TREC/KREC). Retesting was delayed due to communication difficulties with the family. Whole exome sequencing on a new DBS confirmed the diagnosis. The newborn was a candidate for allogeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment. HSCT is a complex procedure still ongoing in Ukraine despite the conflict. However, due to the psychosocial strain, the family sought medical support in Germany, where HSCT was performed successfully at 6 months. As part of a collaborative initiative with Italy, PNP biomarkers were quantified on the same DBSs using tandem mass spectrometry, according to the protocols established for SCID NBS in Tuscany, serving as a proof of concept of its diagnostic performance. This case highlights the importance of sustaining preventive and life-saving healthcare services, and reflects the key role of international partnerships in upholding the right to healthcare in times of crisis.

Ukraine’s healthcare system shows remarkable resilience in continuing newborn screening (NBS) program, beyond war challenges. Amid the conflict, a Ukrainian newborn screened positive for an extremely rare severe combined immunodeficiency (SCID) —purine nucleoside phosphorylase (PNP) deficiency. Ukraine successfully carried out NBS on neonatal dried blood spot (DBS) by real-time PCR, which showed remarkably reduced T-cell receptor and kappa-deleting recombination excision circles (TREC/KREC). Retesting was delayed due to difficult communication with the family. Whole exome sequencing on a new DBS confirmed the diagnosis. The newborn was candidate for al-logeneic hematopoietic stem cell transplantation (HSCT), the only curative treatment. HSCT is a complex procedure still ongoing in Ukraine despite the conflict. However, due to the psychosocial strain, the family sought medical support in Germany, where HSCT was performed successfully at 6 months. As part of a collaborative initiative with Italy, PNP biomarkers were quantified on the same DBSs using tandem mass spectrometry, according to the protocols established for SCID NBS in Tuscany, serving as a proof of concept of its diagnostic performance. This case highlights the importance of sustaining preventive and life-saving healthcare services, and reflects the key role of international partnerships in upholding the right to healthcare in times of crisis.

Background: Localized or segmental overgrowth is a rare condition that may co-occur with vascular malformations. These diseases generally are caused by somatic mutations in the PI3K/AKT/mTOR pathway. Most lesions are progressive and may cause symptoms including pain, functional impairment, and disfigurement. Treatment options are limited, especially for the overgrowth component. Objective: To evaluate the efficacy and safety of the mTOR inhibitor sirolimus in patients with overgrowth with or without a vascular malformation over a 6-months treatment period. Methods: We conducted a single-arm, open-label, phase II study including 18 patients (12 pediatric, six adult) with overgrowth, all of whom initiated oral sirolimus. 16/18 (88.9%) participants received oral sirolimus for 6 months, with dosing adjusted to achieve target blood trough levels of 3–8 ng/mL. Primary outcome was radiological response at six months assessed by the Response Evaluation Criteria in Solid Tumors (RECIST) 1.1. Secondary outcome parameters were evaluated at three, six and nine months and included size and visual appearance of the overgrowth, quality of life (QoL), pain intensity, performance status, and safety. Results: No patient achieved complete or partial radiological response. 17 of 18 patients (94.4%) maintained stable disease at month six; one was not evaluable. QoL measured with WHOQOL-BREF improved modestly in patients aged >= 18 years (n=5, mean difference to baseline +9.3 (95%-CI: -0.9 to 19.5) in physical and +9.2 (95%-CI: 0.7 to 17.7) in psychological domains at month 6). In pediatric participants, no relevant improvement in KINDL total scores was observed over the study period. No significant changes occurred in pain scores. Performance status measured by the Lansky/Karnofsky scales showed minor improvement (mean +3.5 points (95%-CI: 1.0 to 6.1)). All patients experienced at least one adverse event, but no serious adverse events or CTCAE v5.0 grade ≥3 toxicities occurred. Sirolimus was well tolerated. Six patients decided to resume sirolimus after study completion. Conclusions: Sirolimus induced minor lesion shrinkage in a subset of patients, although this did not meet the predefined radiological RECIST endpoint. However, sirolimus can lead to functional improvement in some adults, which may indicate that the primary radiological outcome did not capture patient-perceived benefit.