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Torrential bleeding is a rare and life-threatening complication of arteriovenous malformations (AVMs). We report a case of head and neck AVMs present with uncontrollable torrential bleeding, which was treated with embolization and sclerotherapy. Then we explored the potential multidisciplinary handling of the procedure for this kind of case. A 25-year-old female patient was born with right face and head AVMs. The AVMs had grown gradually and ruptured spontaneously with uncontrollable torrential bleeding before admission. Emergent direct hemostasis, nasotracheal intubation, and staged embolization and sclerotherapy were carried out on this patient. Finally, the bleeding stopped and the wound healed successfully. Embolization and sclerotherapy are effective for head and neck AVMs with uncontrollable torrential bleeding. Multidisciplinary collaboration is needed to achieve a good outcome.

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A persistent stapedial artery (PSA) is a rare embryologic remnant that typically involutes at week 10 of embryogenesis. However, if it is persistent, it may lead to conductive hearing loss and pulsatile tinnitus. It is of utmost importance to identify such an anomaly, as it leads to serious complications intraoperatively if overlooked. Proper clinical and radiological assessment helps an otologist recognize the PSA. We describe the case of a 24-year-old female presenting with a chronically discharging ear in addition to pulsatile tinnitus and conductive hearing loss with an incidental finding of a PSA upon otoscopy.

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Partial duplication of the left ovarian vein is an extremely rare anatomical variation with significant clinical implications. We report the case of a 52-year-old female with no significant medical history, presenting with a 2-month history of vague upper abdominal pain. A diagnostic abdominal CT scan revealed an incidental finding of partial duplication of the left ovarian vein. The vein was enlarged, measuring 8 mm in diameter, and displayed a unique bifurcation at the lower end of the L4 vertebra, reuniting at the upper endplate of the L3 vertebra. Additionally, a short 4 mm segment connected the duplicated mid-segments. This case underscores the importance of thorough imaging and evaluation in identifying rare vascular anomalies, which can have significant implications for diagnosis and management.

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Persistent sciatic artery (PSA) is a rare congenital vascular anomaly resulting from embryologic axial artery malformation in the lower limb. This case report presents three patients aged 45-60, each with bilateral PSA presenting with symptoms indicative of PSA complications, including aneurysmal degeneration, limb ischemia, thromboembolism, or neuralgia from nerve compression. It highlights the diagnostic process, management strategies, and clinical outcomes observed at a tertiary referral hospital. Treatment involved a collaborative, multidisciplinary approach with vascular surgeons, internists, and radiologists tailoring interventions to individual patient findings and disease progression. This report aims to provide insights into the diverse presentations and management of PSA in a resource limited setting, encouraging further reporting and case studies to enhance understanding of therapeutic outcomes.

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Fibro-Adipose Vascular Anomaly (FAVA) is a recently identified type of vascular malformation predominantly affecting adolescent females. Comprising abnormal adipose and vascular components, FAVA is frequently misdiagnosed as other vascular anomalies. It primarily manifests with pain, functional impairment, and musculoskeletal symptoms, particularly in the lower extremities. Accurate diagnosis requires a combination of clinical, radiologic, and histopathologic evaluation, with MRI and ultrasound being the primary imaging tools. Management of FAVA is multidisciplinary and tailored to individual patients. Interventional radiology procedures, such as percutaneous cryoablation, sclerotherapy, and embolization, are effective in long term control of symptoms. Cryoablation is particularly successful in alleviating pain and improving function. Surgical resection is reserved for specific cases with extensive lesions involving joints or when there is severe muscle or joint dysfunction. Additionally, sirolimus, an mTOR inhibitor, has shown promise in symptom relief, although further research is needed to confirm its long-term efficacy. Early diagnosis and treatment are essential for improving the quality of life in FAVA patients. Advances in imaging and treatment strategies have enhanced the ability to manage this complex and rare condition effectively.

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While isolated internal iliac artery aneurysms (IIIAAs) are rare entities, they are associated with a high mortality rate if ruptured. IIAAs are usually asymptomatic and can be discovered accidentally during imaging for any other causes. The treatment options vary according to the signs, symptoms, size of the aneurysm, and the patient's general condition. While surgery used to be the first option of treatment earlier, with the advances in the field of endovascular intervention, endovascular repair of IIIAA has emerged as the first option of treatment if applicable.

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Fibro-adipose vascular anomaly (FAVA) presents diagnostic and therapeutic challenges due to its rarity and overlapping features with other vascular malformations. Predominantly affecting the lower extremities, it manifests with pain and contracture, and surgical resection may be necessary in symptomatic cases. We present a case of a 36-year-old patient with FAVA in the right lower extremity, experiencing persistent symptoms since adolescence. The condition was managed with surgical gastrocnemius resection. Following surgery, the patient underwent a comprehensive rehabilitation program, resulting in significant clinical and functional improvement. This case highlights the importance of tailored interventions in FAVA. The challenges encountered in diagnosing and managing FAVA underscore the necessity for continued research and clinical discourse to improve patient care. Our report emphasizes the significance of collaborative and multidisciplinary care in maximizing functional recovery and quality of life post-gastrocnemius resection, highlighting the importance of optimized rehabilitation programs.

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Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.

El hemangioma infantil es un tumor vascular benigno, el más frecuente de la infancia, cuya evolución natural favorece la desaparición de la lesión en la misma edad pediátrica y que cuenta con tratamientos eficaces y seguros que limitan su crecimiento y favorecen su desaparición a edades más tempranas. Continúa siendo motivo de atención de complicaciones, debido a diagnósticos erróneos, desconocimiento del padecimiento, referencia tardía o temor de los efectos de los fármacos utilizados para su tratamiento. Además, se normaliza su presencia sin tomar en cuenta que puede llegar a causar incertidumbre, ansiedad, sentimientos de culpa y, como consecuencia, importante afectación de la calidad de vida, principalmente en los padres o cuidadores del niño. La necesidad de una guía de práctica clínica en nuestro país surge ante la alta presentación de complicaciones del hemangioma infantil referidas de manera tardía aun con la disponibilidad de tratamientos adecuados, la evolución continua de la medicina y la aparición de nueva evidencia. A lo largo de la guía se encontrarán recomendaciones en relación con el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil, tomando en cuenta los paraclínicos que pueden realizarse, las opciones de manejo tópico o sistémico, y las terapias adyuvantes. Por primera vez se incluyen en una guía para el manejo del hemangioma infantil herramientas objetivas para el seguimiento de los pacientes, así como para ayudar al médico de primer contacto en su referencia oportuna.

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BACKGROUND: Port-Wine Birthmarks (PWB) are congenital capillary malformations requiring multiple treatments. Optical coherence tomography (OCT), a noninvasive imaging technique, characterizes vessels in cutaneous vascular lesions, including PWBs. OBJECTIVE: To assess variability in blood vessel characteristics within and between individual PWBs. METHODS: OCT was used to measure blood vessel density (%) and modal vessel diameter (micrometers) at increments of 0.05 mm from the skin surface to a depth of 0.50 mm at several adjacent spots of single PWBs in this cross-sectional study. Average ratios of vessel density and diameter in affected to control skin were obtained for each PWB by averaging data for all spots within a lesion. Statistical analysis was performed with a linear mixed effects model using SPSS software (IBM Corporation). RESULTS: There was great variability in vessel density and diameter within and between PWBs. Depths where average ratios of vessel density were consistently greater in affected to control skin were shallow, between 0.15 mm and 0.2 mm deep from the skin surface. LIMITATIONS: Small sample size and device's inability to measure diameters smaller than 20 micrometers. CONCLUSION: There is variability in vessel density and diameter within and between PWBs. Individualized treatment planning guided by OCT mapping should be studied further.

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Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

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Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in the spine and cavernous sinus. Their removal poses significant risk due to their vascularity and diffuse nature, and their genetic underpinnings remain incompletely understood. Our approach involved genetic analyses on 31 tissue samples of ECHs employing whole-exome sequencing and targeted deep sequencing. We explored downstream signaling pathways, gene expression changes, and resultant phenotypic shifts induced by these mutations, both in vitro and in vivo. In our cohort, 77.4% of samples had somatic missense variants in GNA14, GNAQ, or GJA4. Transcriptomic analysis highlighted significant pathway upregulation, with the GNAQ c.626A>G (p.Gln209Arg) mutation elevating PI3K-AKT-mTOR and angiogenesis-related pathways, while GNA14 c.614A>T (p.Gln205Leu) mutation led to MAPK and angiogenesis-related pathway upregulation. Using a mouse xenograft model, we observed enlarged vessels from these mutations. Additionally, we initiated rapamycin treatment in a 14-year-old individual harboring the GNAQ c.626A>G (p.Gln209Arg) variant, resulting in gradual regression of cutaneous cavernous hemangiomas and improved motor strength, with minimal side effects. Understanding these mutations and their pathways provides a foundation for developing therapies for ECHs resistant to current therapies. Indeed, the administration of rapamycin in an individual within this study highlights the promise of targeted treatments in treating these complex lesions.

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BACKGROUND: Significant variation in management strategies for lymphatic malformations (LMs) in children persists. The goal of this systematic review is to summarize outcomes for medical therapy, sclerotherapy, and surgery, and to provide evidence-based recommendations regarding the treatment. METHODS: Three questions regarding LM management were generated according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Publicly available databases were queried to identify articles published from January 1, 1990, to December 31, 2021. A consensus statement of recommendations was generated in response to each question. RESULTS: The initial search identified 9326 abstracts, each reviewed by two authors. A total of 600 abstracts met selection criteria for full manuscript review with 202 subsequently utilized for extraction of data. Medical therapy, such as sirolimus, can be used as an adjunct with percutaneous treatments or surgery, or for extensive LM. Sclerotherapy can achieve partial or complete response in over 90% of patients and is most effective for macrocystic lesions. Depending on the size, extent, and location of the malformation, surgery can be considered. CONCLUSION: Evidence supporting best practices for the safety and effectiveness of management for LMs is currently of moderate quality. Many patients benefit from multi-modal treatment determined by the extent and type of LM. A multidisciplinary approach is recommended to determine the optimal individualized treatment for each patient.

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Cavernous malformations (CM) are rare intracerebral vascular lesions occurring in the brain, or less commonly in the spine, with an annual bleeding risk of up to 1.1%. These lesions can be occult or present to signs and symptoms based on location or, more frequently, are a result of hemorrhagic events. The most challenging aspect of managing these cases is weighing the risks and benefits of surgical treatment and intervening before the onset of a devastating hemorrhagic event. Here, we present the second case of CM haemorrhage following the cerebrospinal fluid (CSF) diversion procedure with a literature review of theories explaining this phenomenon. We present a 37-year-old female who has a known case of brainstem cavernoma and underwent left sub-temporal resection with stable residual since 2011, then was managed conservatively due to patient preference till she had a deterioration in December 2021 manifested as confusion, diplopia, dysarthria, and significant left sided weakness leaving her wheelchair bound. CT showed supratentorial hydrocephalus with extensive periventricular transependymal edema and no clear haemorrhage. A ventriculoperitoneal (VP) shunt was inserted, with no intraoperative complications. A few hours post-VP shunt insertion, she experienced a worsening in her mental status, hemiparesis, and dysarthria. Subsequent imaging found evidence of acute haemorrhage in the location of the previously noted residual. She was managed by supportive care. Causative factors of CM haemorrhage are poorly understood, and current data only suggest that prior haemorrhage and CM location could increase bleeding risk. Only one case of CM bleeding post-shunt insertion was reported; however, studies on other types of intracranial vascular lesions suggest that alterations in transmural pressure (including cerebrospinal fluid diversion procedures) can increase the risk of haemorrhage by changing the hemodynamic flow in these abnormally formed and weak vascular structures.

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Fibro-adipose vascular anomaly (FAVA) is characterized by intramuscular vascular malformation with secondary overgrowth of further mesenchymal elements, particularly fibro-adipose tissue. A rare disease complicated by nonspecific, overlapping clinical and imaging features, FAVA is often misdiagnosed, causing a dilemma in its diagnostic and therapeutical management. We present a case of FAVA of the lower extremity.

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BACKGROUND: Angiopoietin-2 (Ang-2) is increased in the blood of patients with kaposiform lymphangiomatosis (KLA) and kaposiform hemangioendothelioma (KHE). While the genetic causes of KHE are not clear, a somatic activating NRASQ61R mutation has been found in the lesions of KLA patients. PROCEDURE: Our study tested the hypothesis that the NRASQ61R mutation drives elevated Ang-2 expression in endothelial cells. Ang-2 was measured in human endothelial progenitor cells (EPC) expressing NRASQ61R and a genetic mouse model with endothelial targeted NRASQ61R. To determine the signaling pathways driving Ang-2, NRASQ61R EPC were treated with signaling pathway inhibitors. RESULTS: Ang-2 levels were increased in EPC expressing NRASQ61R compared to NRASWT by Western blot analysis of cell lysates and ELISA of the cell culture media. Ang-2 levels were elevated in the blood of NRASQ61R mutant mice. NRASQ61R mutant mice also had reduced platelet counts and splenomegaly with hypervascular lesions, like some KLA patients. mTOR inhibitor rapamycin attenuated Ang-2 expression by NRASQ61R EPC. However, MEK1/2 inhibitor trametinib was more effective blocking increases in Ang-2. CONCLUSIONS: Our studies show that the NRASQ61R mutation in endothelial cells induces Ang-2 expression in vitro and in vivo. In cultured human endothelial cells, NRASQ61R drives elevated Ang-2 through MAP kinase and mTOR-dependent signaling pathways.

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A persistent sciatic artery (PSA) is a rare congenital vascular anomaly, with an estimated prevalence ranging from 0.01% to 0.05%. This condition can cause ischemic events in the lower limbs and sciatic artery aneurysms but can also be asymptomatic. A PSA can complicate the treatment of other coexistent vascular diseases due to the thin caliber of the external iliac and femoral arteries. We report a case of a patient with bilateral PSAs and an infrarenal aortic aneurysm. The aneurysm was successfully treated by the endovascular approach. An ultra-low profile endograft associated with access incisions slightly above the usual position was used to overcome this challenging access.

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Craniomaxillofacial vascular anomalies encompass a diverse and complex set of pathologies that may have a profound impact on pediatric patients. They are subdivided into vascular tumors and vascular malformations depending on biological properties, clinical course, and distribution patterns. Given the complexity and potential for leading to significant functional morbidity and esthetic concerns, a multidisciplinary approach is generally necessary to optimize patient outcomes. This article reviews the etiology, clinical course, diagnosis, and current management practices related to vascular anomalies in the head and neck.

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A proatlantal intersegmental artery anomaly may present with symptoms such as dizziness and syncope. Because it has the risk of damage in surgical and interventional radiological procedures, to know the presence of this unusual vascular anomaly is very important.

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Patent foramen ovale (PFO) is the most common interatrial septal abnormality. The indications for PFO device closure are still being evaluated, with the most common reason being to prevent cerebrovascular accidents (CVA) caused by paradoxical embolism of deep vein thrombosis (DVT) in the lower extremities. This procedure is usually performed through percutaneous intervention using femoral vein access. Here, we present a case of PFO closure using a transhepatic approach, as femoral vein access was not feasible due to an interrupted inferior vena cava (IVC). The patient had a prominent left-sided IVC, larger than the right-sided IVC, and the left-sided IVC served as the main draining conduit via the hemiazygous system, which then connected to the azygous vein and emptied into the right atrium (RA). Cardiac MRI confirmed these findings, including the continuation of the suprahepatic IVC to the right atrium. With the assistance of interventional radiologist, transhepatic access was achieved, and the PFO was successfully closed. Hemostasis was achieved using coil embolization, and there were no post-procedural complications.

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Persistent sciatic artery (PSA) is an exceptionally rare congenital vascular anomaly with profound clinical implications. This condition occurs when the primitive sciatic artery, responsible for fetal lower limb blood supply, fails to regress during embryonic development. PSA persists into adulthood, representing an intriguing vascular variation that can present as gluteal aneurism and thrombosis. We present the case of a 72-year-old female patient admitted with abdominal pain and blackening of her right foot. Clinical examination revealed dry gangrene affecting the toes, limb edema, and absent peripheral pulses in the right lower limb. Septic shock and electrolyte imbalances prompted immediate resuscitation and antibiotic therapy. Diagnostic investigations, including Doppler ultrasonography, CT angiography, and 2D echocardiography, identified a right-sided PSA. With limb ischemia being irreversible, a below-knee amputation was performed. This case highlights the clinical presentation, diagnostic workup, and management of a rare PSA, emphasizing the importance of prompt recognition and intervention in complex vascular anomalies.