Search Results (269)

Background: Lymphatic malformations of the parotid gland and of the adjacent parotideo-masseteric region are rare and technically demanding, because the malformation infiltrates the glandular parenchyma and grows around the branches of the facial nerve rather than displacing them, and published experience consists almost entirely of isolated case reports. Case Presentation: A 16-year-old boy was treated for an extensive lymphatic malformation of the left parotid and parotideo-masseteric region, present since childhood and progressive over three years, with facial asymmetry, no pain and normal facial nerve function. Magnetic resonance imaging showed a mixed lesion of 47 × 20 × 55 mm involving the superficial and deep lobe with parapharyngeal extension. Facial nerve-preserving partial parotidectomy of European Salivary Gland Society levels I, II and IV was performed under continuous nerve monitoring. Histology confirmed a cavernous lymphangioma (CD31 and D2-40 positive). A postoperative sialocele was managed after a single revision. Conclusions: Level-classified nerve-preserving parotidectomy with monitoring was associated with stable residual disease and preserved facial nerve function during 19 months of follow-up. The radial resection margin was focally involved and a thin residual lesion persisted on imaging. Stability at follow-up does not establish the absence of future progression, and longer follow-up is required. Full article

Marfan syndrome (MFS) is a connective tissue disorder classically associated with cardiovascular, musculoskeletal, and ocular manifestations. Neurological involvement is increasingly recognized and is most commonly related to spontaneous intracranial hypotension secondary to dural ectasia and cerebrospinal fluid (CSF) leakage. By contrast, idiopathic intracranial hypertension (IIH) is exceptionally rare in pediatric patients with MFS. We report the case of an 8-year-old girl with Marfan syndrome presenting with neck pain, diplopia, bilateral papilledema, and bilateral sixth cranial nerve palsy. Brain MRI demonstrated optic nerve tortuosity, distension of the perioptic subarachnoid spaces, and partial empty sella, while venous sinus thrombosis and spinal CSF leakage were excluded. Lumbar puncture confirmed markedly elevated CSF opening pressure (48 cmH₂O), consistent with IIH. CSF and plasma neurofilament light chain levels were elevated, whereas anti-MOG antibodies and autoimmune investigations were negative. The patient showed rapid clinical improvement following therapeutic CSF drainage and acetazolamide treatment. To the best of our knowledge, this represents only the second report of pediatric IIH associated with Marfan syndrome. Our patient developed idiopathic intracranial hypertension, an uncommon neurological manifestation in this condition. Through this case, we aim to highlight the diagnostic challenges, discuss the possible pathophysiological mechanisms underlying this rare association and emphasize the importance of considering intracranial hypertension in the differential diagnosis of children with Marfan syndrome presenting with neuro-ophthalmological symptoms. Full article

Background/Objectives: The integration of three-dimensional (3D) printing and virtual surgical planning (VSP) has introduced a new standard in spinal surgery, enabling highly individualised preoperative preparation and intraoperative execution. Methods: By virtually reconstructing patient anatomy, surgeons can identify critical vascular corridors, analyse endplate morphology, determine optimal interbody cage geometry for the best anatomical fit, and predefine screw trajectories and entry points with exceptional accuracy. This level of planning reduces intraoperative uncertainty and minimises the risk of implant malposition, particularly in anatomically complex scenarios, such as the current case report. Quantitative assessment of alignment correction can also be performed preoperatively, allowing the surgeon to model and predict postoperative spinal balance with greater precision. This technology is particularly advantageous in congenital spinal anomalies, such as hemivertebrae, where orientation can be challenging and anatomical landmarks are often distorted or partially obscured. Results: We report the application of 3D-printed patient-specific implants (PSIs) in conjunction with VSP to perform a single-level, standalone anterior lumbar interbody fusion (ALIF) for the treatment of congenital scoliosis due to a left hemivertebra, associated with progressive left L5/S1 foraminal stenosis. Conclusion: This is the first case of a standalone ALIF for this indication. The patient presented with severe left L5 radicular pain and motor–sensory radiculopathy. The use of a PSI facilitated precise reconstruction of the spinal column, optimised implant fit and enhanced surgical accuracy in this technically complex case. Full article

Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive connective tissue disorder caused by pathogenic variants in SLC2A10, which encodes the facilitative glucose transporter GLUT10. Although its vascular features are well recognized, the molecular consequences of many truncating variants remain poorly understood. We report a patient with ATS carrying a homozygous nonsense variant, c.485G > A (p.Trp162Ter), identified by whole-exome sequencing. Quantitative real-time PCR assessed SLC2A10 expression, and integrated bioinformatic analyses (structural modeling, druggability prediction, transmembrane topology, molecular docking, and molecular dynamics) explored its structural impact. The patient presented with severe systemic arterial tortuosity, congenital cardiovascular anomalies, hernias, connective tissue abnormalities, and neurovascular involvement involving cerebral tortuosity and distal intracranial narrowing. Structural modeling revealed extensive truncation of GLUT10 and loss of multiple α-helical domains, with transmembrane helices reduced from twelve to five. Docking of nine known ligands showed weaker binding to the mutant, and Compound 892 bound most strongly to the wild type (−7.469 kcal/mol). Across 300 ns simulations, the mutant complex proved markedly less stable. qRT-PCR showed no significant transcript differences among patient, carriers, and controls. Our findings broaden the neurovascular spectrum of SLC2A10-related ATS and demonstrate that p.(Trp162Ter) severely disrupts GLUT10 architecture, topology, and ligand binding. Full article

Background/Objectives: Compression therapy serves as first-line conservative management for low-flow vascular malformations and Klippel–Trénaunay syndrome (KTS). However, ready-made garments are frequently ill-fitting for patients with limb overgrowth, asymmetry, deformity, or heterogeneous body habitus. Custom-made compression elastic garments offer an individualized solution, yet systematic data across diverse clinical entities remain scarce. This study evaluated objective and subjective outcomes of custom-made compression garments across vascular anomalies and edematous disorders in a multi-institutional real-world setting. Methods: A retrospective observational case series was conducted between May 2023 and September 2025 at four institutions: a tertiary medical center, a pediatric specialty hospital, a corporate hospital, and a corporate clinic. Patients who received custom-made compression elastic garments for vascular anomalies, edema, varicose veins, post-traumatic or post-burn venous stasis, or postoperative conditions were included. Objective outcome (limb circumference change) and subjective outcome (patient satisfaction) were analyzed. Results: A total of 191 patients who received custom-made garments were described (117 females, 61.3%; 74 males, 38.7%; mean age 36.3 years; median 22 years; range 1–96 years). The age distribution was bimodal, with 91 patients (47.6%) aged 0–19 years and 50 patients (26.2%) aged ≥70 years. The tertiary center and pediatric hospital treated vascular anomaly patients exclusively (n = 102), while the corporate hospital and clinic primarily served adult and elderly edematous disorder patients (n = 88; one additional vascular anomaly case was managed at the corporate hospital). Quantitative paired outcome analysis was feasible in the subgroups with complete paired data: 20 vascular anomaly patients (objective outcome) and 20 edematous disorder patients (subjective outcome). In the vascular anomaly subgroup (n = 20), the affected limb showed a significantly greater circumference reduction at the ankle’s narrowest point (median −2 mm, IQR −4.2 to 0.0) compared with the unaffected contralateral limb (median +0.5 mm, IQR −0.2 to +1.0; Wilcoxon signed-rank test T = 4; p < 0.001; effect size r = 0.83). In the edematous disorder subgroup (n = 20), patient satisfaction scores improved significantly from a median of 3 (IQR 2.0–4.0) to 4 (IQR 3.0–6.0) after garment use (Wilcoxon signed-rank test T = 0; p < 0.001; effect size r = 0.83). Representative cases illustrated pediatric vascular anomaly (Case A, vascular malformation; Case C, KTS) and adult edematous disorder (Case B, chronic lower limb edema) presentations and outcomes. Conclusions: Custom-made compression elastic garments were feasible and well tolerated across a broad real-world spectrum of vascular anomalies and edematous disorders. In the analyzed subgroups, a measurable reduction in affected-limb circumference was observed in pediatric vascular anomaly patients, and patient satisfaction improved in adult and elderly edematous disorder patients. Because each subgroup was evaluated with only one outcome domain and no head-to-head comparison of measures was performed, these findings should be regarded as hypothesis-generating. We propose that outcome measures may need to be tailored to disease background and age, a hypothesis that warrants testing in prospective studies capturing both objective and subjective endpoints across all patient groups. Full article

Background: Monochorionic twin pregnancies provide a unique model to investigate fetal phenotypic discordance, because both fetuses share a single placenta and interconnected vascular circulation. Although most monochorionic twins are monozygotic, clinically relevant differences may arise through genetic, epigenetic, placental, and stochastic developmental mechanisms. Methods: This systematic review was conducted according to PRISMA 2020 and registered in PROSPERO (CRD420261432361). PubMed/MEDLINE, Embase, and Scopus were searched from inception to June 2026. Eligible studies included monochorionic monozygotic twin pairs with discordant congenital, developmental, or syndromic phenotypes, confirmed or clearly inferable monochorionicity, and at least one genomic, cytogenetic, or epigenetic investigation; studies describing confirmed monochorionic dizygotic twinning were excluded. Findings were synthesized qualitatively. Results: The search identified 1357 records. After duplicate removal and screening, 48 studies fulfilled the eligibility criteria, comprising 441 monozygotic twin pairs; 37 were single-pair case reports, whereas one large retrospective cohort study alone contributed 193 pairs (44% of the entire pooled sample). Reported phenotypes included congenital heart disease, chromosomal abnormalities, disorders of sex development, imprinting disorders, neurodevelopmental disease, endocrine disorders, renal anomalies, skeletal disorders, and multisystem malformations. Molecular methods included karyotyping, FISH, chromosomal microarray, array-CGH, CNV analysis, WES, WGS, targeted sequencing, and methylation profiling. Proposed mechanisms included postzygotic chromosomal errors, somatic mutations, tissue-specific mosaicism, discordant or shared CNVs, differential methylation, imprinting defects, variable expressivity, blood chimerism, unequal placental sharing, TTTS, TAPS, sFGR, and uteroplacental insufficiency. Conclusions: Phenotypic discordance in monochorionic twins is rarely explained by a single mechanism. Available evidence supports a multifactorial model in which postzygotic genetic events, epigenetic regulation, placental vascular factors, and stochastic developmental processes interact. Full article

Coronary artery aneurysm (CAA) and ectasia (CAE) are characterized by an abnormal dilation exceeding 1.5 times the reference diameter of the adjacent normal vessel segment. Usually, these vascular anomalies are detected incidentally during coronary computed tomography angiography or invasive coronary angiography. Their clinical significance has become increasingly recognized over time because they may be associated with myocardial ischemia, thrombosis, distal embolization, acute coronary syndromes, and adverse long-term outcomes. In adults, atherosclerosis remains the most frequent cause, while Kawasaki disease is the leading etiology in children. Many patients remain asymptomatic, and the diagnosis is often incidental. Given their variable natural history and poorly delineated prognostic implications, individualized clinical risk stratification is essential. Coronary angiography remains the gold standard for invasive assessment. Management remains controversial in the absence of randomized controlled trials establishing an optimal therapeutic strategy. Full article

Background: Extracranial arteriovenous malformations (eAVMs) are aggressive vascular anomalies consisting of abnormal blood vessels (BVs) and multiple other cell types, including macrophages. Although inflammation and the presence of immune cells are characteristics of eAVMs, the contribution of macrophage polarization to eAVM pathophysiology is unknown. Methods: In this study, pediatric eAVM tissues and adjacent control tissues were analyzed using immunohistochemistry (IHC) and immunofluorescence (IF) to assess M1 and M2 macrophage localization, loss of endothelial CD31 expression, and expression of the immune-regulatory protein PDL-1. In addition, serum samples from eAVM patients were analyzed using a human inflammation antibody array to profile cytokines and other circulating factors associated with M2 macrophage and immunosuppressive microenvironment. Results: eAVM tissues demonstrate accumulation of M2-polarized macrophages around abnormal CD31^−ve BVs, while M1 macrophages were primarily associated with normal appearing CD31^+ve vessels. eAVM tissues demonstrated increased expression of PD-L1 in regions enriched with M2 macrophages, which were absent in paired control tissues. Serum analysis revealed increased levels of circulating factors associated with M2 macrophages and immune suppression, including PDGF-BB, IL-4, and IL-16. Conclusions: These findings suggest that CD31^−ve vessels in eAVMs are associated with enrichment of M2 macrophages and a microenvironment suggestive of localized immune regulation. These observations are hypothesis-generating and warrant validation in larger patient cohorts and future mechanistic studies. Full article

Background: Trisomy 21 (T21) is strongly associated with congenital heart disease, particularly atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD) and selected conotruncal and arch anomalies. First- and second-trimester ultrasound, Doppler and fetal cardiac MRI enable increasingly early and detailed characterization of these lesions, while advances in molecular cardiogenesis have linked specific phenotypes to dosage-sensitive genes on chromosome 21. Methods: This narrative review synthesizes contemporary evidence on structural and functional cardiovascular anomalies in T21 fetuses in the first and second trimester, integrating fetal echocardiography, Doppler assessment and fetal cardiac MRI with embryologic and molecular insights, and summarizing trimester-specific detectability and pathophysiologic links to candidate genes in the Down syndrome-critical region. Approximately one quarter to one third of T21 fetuses have major congenital heart disease on high-quality prenatal echocardiography, with AVSD representing about half of all lesions and VSD, tetralogy of Fallot (TOF), arch anomalies, venous return abnormalities and functional markers (increased nuchal translucency, tricuspid regurgitation, ductus venosus abnormalities) comprising the remainder. Results: First-trimester detection relies on functional markers and early four-chamber and outflow-tract views, whereas second-trimester studies refine anatomic definition and hemodynamics, with MRI reserved for complex cases. Overexpression of genes such as DSCAM, COL6A1/COL6A2, DYRK1A and RCAN1 perturbs endocardial cushion, conotruncal and vascular development. Conclusions: Early, protocol-driven cardiac imaging in T21 supports timely diagnosis, risk stratification and multidisciplinary counselling, and links fetal imaging phenotypes with chromosome 21 gene dosage to advance personalized management and future genotype–phenotype research. Full article

Background and Objectives: Pulmonary sequestration (PS) is a rare congenital lung anomaly with anomalous systemic arterial supply. Surgical resection is the standard treatment, but some children have contraindications. Endovascular embolization (EE) is an established alternative; published pediatric experience is limited, particularly in neonates. We report a two-centre experience with extended follow-up and quantitative hemodynamic data. Methods: Six pediatric patients (five male; median age 6 months, range 11 days to 4 years and 8 months) underwent EE for PS at two centres in Gdańsk, Poland, between 2020 and 2025. Contraindications to surgery were severe pulmonary arterial hypertension, high-output cardiac failure, low body weight with comorbidity, complex extralobar anatomy or refused parental consent. Procedures were performed under general anesthesia via right common femoral arterial access; device strategy was tailored to vessel anatomy. Results: Technical success was 100% with no procedural complications. Median feeding-artery diameter was 3.4 mm (range 2.1 to 5.3 mm). An Amplatzer-family vascular plug was used in five patients (83.3%), pushable platinum coils in two (33.3%) and Onyx-18 in one (16.7%); two had hybrid combinations and one underwent planned staged two-step embolization. Median procedural duration was 51 min. At median follow-up of 50 months (range 11 to 68), all patients showed sequester regression on imaging. Reverse cardiac remodelling occurred within five weeks in the patient with pre-procedural left ventricular dilation (Z-score +2.45 returning to normal); systolic pulmonary artery pressure fell from 35 to 40 to 17 mmHg within six weeks in the neonate treated at 11 days of life for high-output cardiac failure. No patient required surgical resection. Conclusions: Endovascular embolization is safe and effective in pediatric patients with pulmonary sequestration and contraindications to surgery, including neonates with comorbidity. Documented reverse cardiac remodelling and rapid hemodynamic improvement support its use in selected cases. Full article

Maternal psychoactive substance use during pregnancy represents a major threat to placental integrity and fetal development. As the central interface for maternal–fetal exchange, the placenta is highly susceptible to psychoactive substances, including alcohol, tobacco, cannabis, cocaine, opioids, and synthetic drugs, which can cross the placental barrier and induce structural and functional alterations. This review synthesizes current evidence on the biological mechanisms, diagnostic approaches, and forensic relevance of psychoactive substances-induced placental pathology. We summarize how different substances disrupt placental vascularization, oxidative balance, epigenetic regulation, and cellular viability, leading to impaired nutrient and oxygen transfer and increasing the risk of adverse outcomes such as intrauterine growth restriction, preterm birth, congenital anomalies, and long-term neurodevelopmental impairment. We further discuss the role of placental tissue in identifying prenatal drug exposure and reconstructing exposure timelines. Beyond its clinical relevance, placental examination provides objective evidence with potential forensic value in cases of suspected maternal substance use, while also informing non-punitive, evidence-based interventions. Overall, integrating placental pathology into reproductive health research and prenatal care offers a multidisciplinary framework to improve maternal–fetal outcomes and guide public health strategies addressing substance use during pregnancy. Full article

Reproductive emergencies in male dromedary camels (Camelus dromedarius) threaten fertility, health, and welfare but remain poorly documented. This review consolidates knowledge on the diagnosis, management, and prognosis of acute reproductive pathologies, including traumatic injuries (testicular trauma, penile hematoma, and preputial laceration), obstructive conditions (urethral obstruction, phimosis, and paraphimosis), vascular emergencies (spermatic cord torsion, priapism), inflammatory diseases (orchitis, epididymitis, pizzle rot), congenital anomalies (persistent frenulum), iatrogenic complications, and pharmacologic-induced dysfunction. Systematic breeding soundness examination and ultrasonography are indispensable for assessing testicular perfusion and guiding intervention. Given the scarcity of camel-specific literature, this narrative clinical review integrates evidence from published camelid studies, relevant reports from other domestic species, and representative clinical observations documented by the authors to provide a practical framework for diagnosis and management. Field constraints, the stoic nature of camels, and harmful ethnoveterinary practices often delay diagnosis and compromise outcomes. Prognosis varies considerably depending on the condition and timeliness of intervention; early aggressive management can preserve reproductive function, while delayed treatment frequently results in permanent infertility or death. Given the economic and cultural importance of camels in arid regions, improving outcomes for reproductive emergencies is essential for sustaining breeding programs and enhancing animal welfare. This narrative clinical review integrates published literature with representative clinical observations and retrospective field cases to summarize the diagnosis, management, and prognosis of reproductive emergencies in male dromedary camels. It also provides a structured clinical framework to support veterinarians in managing these acute conditions and highlights critical gaps requiring further research. Full article

Lymphatic malformations (LMs) are rare congenital low-flow vascular anomalies that frequently involve the head and neck and may be managed with surgery, laser therapy, sclerotherapy, or multimodal approaches depending on lesion type, size, depth, and relationship with adjacent structures. Ultrasound-guided sclerotherapy with doxycycline is an established treatment option for macrocystic lesions, whereas the practical role of high-frequency superficial ultrasound as a technical adjunct has been less specifically discussed. We report the case of a 32-year-old man presenting with a painless left submandibular swelling of approximately two years’ duration. Magnetic resonance imaging showed a well-encapsulated cystic lesion measuring 56 × 35 mm in the left submandibular region, extending into the internal paralaryngeal space and causing mild compression of the laryngeal wall. Previous fine-needle aspiration cytology had not conclusively established the lymphatic nature of the lesion; therefore, an incisional biopsy was performed and confirmed a macrocystic LM. The patient underwent day-surgery intralesional doxycycline sclerotherapy under real-time high-frequency ultrasound guidance using an 18 MHz hockey-stick transducer. After aspiration of the main cystic compartment through a 25-gauge needle, 100 mg of doxycycline diluted to 10 mg/mL in normal saline was slowly injected under continuous visualization. The procedure was well tolerated under topical local anesthesia, without pain, complications, or adverse effects. A partial clinical reduction was observed after the first session; the treatment was repeated after three months, resulting in apparent complete clinical resolution at one-year follow-up; no post-treatment imaging was available to confirm radiological resolution. This case highlights the potential technical value of high-frequency superficial ultrasonography, particularly for needle positioning, improved delineation of superficial locules, and real-time monitoring of sclerosant distribution. Full article

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. Full article

Micro- and nanoplastics (MNPs) are emerging environmental contaminants of increasing relevance to human health. Growing evidence suggests that, following ingestion, inhalation, or, less convincingly, dermal exposure, MNPs may cross biological barriers, enter lymphatic and vascular compartments, and reach the liver. Owing to portal blood flow, sinusoidal architecture and Kupffer cell activity, the liver appears to be one of the principal sites of early particle sequestration. Human biomonitoring, ex vivo and postmortem studies have detected MNPs in blood and multiple organs, including the liver, although the currently available evidence remains limited and methodologically heterogeneous. Their identification relies on multistep analytical procedures that integrate sample pretreatment with FTIR, Raman spectroscopy, LD-IR, Py-GC-MS and supplementary imaging methods. However, each of these techniques presents significant limitations, particularly in the analysis of nanoplastics. Experimental studies indicate that MNPs may induce hepatic injury through oxidative stress, mitochondrial impairment, endoplasmic reticulum stress, inflammation, DNA damage, dysregulated lipid metabolism and disruption of the gut–liver axis, consequently contributing to steatosis, cholestatic anomalies and fibrosis. Consequently, MNPs should be considered potential contributors to liver pathology, although more comprehensive human data are still required. Full article