Congenital cervicofacial vascular anomalies are extremely rare and present many difficulties in diagnosis and treatment requiring a multidisciplinary approach. Firstly, there is little consensus on this subject among head and neck specialists. There are two main types of vascular anomalies: vascular tumors and vascular malformations. Vascular malformations are also divided into malformations with slow blood flow (veins, lymphatics, capillaries or combined) and malformations with a fast blood flow (arteriovenous malformations and fistula). Vascular tumors like hemangiomas are known for their spontaneous involution with aging, while vascular malformations grow in dimensions with age. It is very important to choose the correct differential diagnosis between cervicofacial hemangiomas and vascular malformations for proper therapy management. Anamnesis and clinical exams help in raising suspicions about the real nature of a cervico-vascular anomaly. Furthermore, imaging brings in-depth details of the anomaly, ranging from ultrasound and contrast CT to MRI scanning and minimally invasive angiography. Angiography with selective embolization is rarely a curative procedure for arteriovenous malformations, being more suitable as a preliminary step before attempted surgical removal. Surgery is clearly necessary when there are aesthetic and functional deficits. Slow-flow vascular malformations present a reduced morbidity, and in cases without involution, the surgical ablation is reserved for the cases with aesthetic dysfunctions or psychological trauma. Lymphatic malformations must undergo surgical ablation when they are associated with mass effects and compression of great vessels or aerial viscera. The prognosis after surgical removal is good, with a low rate of recurrence or morbidity. Fast-flow vascular malformations require a combined approach, with embolization and excision in the next 48 h for safety reasons. Removal may be followed by reconstructive surgery depending on the location and dimensions of the malformation, with a possible secondary recovery of the normal microscopic vessels. Some of the masses may hinder the normal airflow and swallowing. Pathology is the gold standard for confirming the clinical and imaging diagnosis.
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http://dx.doi.org/10.3390/jcm13123515 | DOI Listing |
Neurosurg Rev
January 2025
Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
To evaluate the incidence of mortality, hemorrhage, and neurological deficits in treating intracranial arteriovenous malformations (AVMs) in patients over 18 through a comparative analysis of surgical approaches and other therapeutic modalities. A systematic review was conducted using MEDLINE, Embase, CENTRAL, and LILACS databases in November 2023. Inclusion criteria included clinical trials, cohorts studies, case-controls studies, and case series comparing patients over 18 undergoing surgery or microsurgery versus other treatments (radiosurgery, isolated embolization, and conservative treatment).
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Neurosurgery, ASST Grande Ospedale Metropolitano Niguarda, Milano, Italy.
Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. Multiple SDAVFs are unusual and can occur either synchronously or metachronously, as reported in the literature. We report on the unusual case of a woman with three separate SDAVFs, which were surgically treated within the same setting; the postoperative course was characterised by unexplained repeated haematoma formation within the surgical sites.
View Article and Find Full Text PDFBMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFThe central nervous system (CNS) parenchyma has conventionally been believed to lack lymphatic vasculature, likely due to a non-permissive microenvironment that hinders the formation and growth of lymphatic endothelial cells (LECs). Recent findings of ectopic expression of LEC markers including Prospero Homeobox 1 (PROX1), a master regulator of lymphatic differentiation, and the vascular permeability marker Plasmalemma Vesicle Associated Protein (PLVAP), in certain glioblastoma and brain arteriovenous malformations (AVMs), has prompted investigation into their roles in cerebrovascular malformations, tumor environments, and blood-brain barrier (BBB) abnormalities. To explore the relationship between ectopic LEC properties and BBB disruption, we utilized endothelial cell-specific overexpression mutants.
View Article and Find Full Text PDFActa Neurochir (Wien)
January 2025
Department of Neurosurgery, Kanazawa University, 13-1 Takara-machi, Kanazawa, 9208641, Ishikawa, Japan.
A 54-year-old man presented with gait disturbances, urinary incontinence, and headache for 6 months. Head computed tomography indicated several high-density mass lesions in the quadrigeminal cistern, causing occlusive hydrocephalus. Digital subtraction angiography confirmed tentorial dural arteriovenous fistulae (AVF).
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