Giant vascular malformations invading the skull:A case report

BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.

Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case

Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination.

Whole mount of adult ear skin as a model to study vascular malformations

Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.

Overview of peripheral arteriovenous malformations:From diagnosis to treatment methods

Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associated with other anomalies.Simple VMs include lymphatic,venous,capillary,and arteriovenous malformations(AVMs).AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins.This abnormal vascular communication causes arterial blood to accumulate in the venous vessels,thus resulting in venous hypertension and characteristic clinical manifestations,such as pulsation,tremors,and elevated temperature.AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs.The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms,thus complicating their management.Herein,we discuss peripheral AVMs in terms of their clinical manifestations,imaging examinations,and staging systems to provide a comprehensive reference for the treatment,evaluation methods,and follow-up procedures for this vascular anomaly.

Emergent single-balloon enteroscopy for overt bleeding of small intestinal vascular malformation

A 28-year-old man presented with anemia symptoms and intermittent tarry stool passage for three days. No stigmata of hemorrhage were identified using esophagogastroduodenoscopy, ileocolonoscopy, and contrast-enhanced computed tomography. He then developed massive tarry stool passage with profound hypovolemic shock and hypoxic respiratory failure. Emergent angiography revealed active bleeder, probably from the jejunal branches of the superior mesenteric artery, but embolization was not performed due to possible subsequent extensive bowel ischemia. His airway was secured via endotracheal intubation with ventilator support, and emergent antegrade singleballoon enteroscopy was performed at 8 h after clinical overt bleeding occurrence; the procedure revealed a 2-cm pulsating subepithelial tumor with a protrudingblood plug at the distal jejunum. Laparoscopic segmental resection of the jejunum with end-to-end anastomosis was performed after emergent endoscopic tattooing localization. Pathological examination revealed a vascular malformation in the submucosa with an organizing thrombus. He was uneventfully discharged 5 d later. This case report highlights the benefit of early deep enteroscopy for the treatment of small intestinal bleeding.

Concentration is more important than dose when using intralesional Pingyangmycin injection for treatment of vascular malformations

Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been reported to manage vascular anomalies over the years, including surgical resection,

Current Controversies and the State of the Art in Endovascular Treatment of Vascular Malformations

Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an asymptomatic birthmark to fulminant。

Small intestinal vascular malformation bleeding:A case report with imaging findings

The small intestine is approximately 5-6 m long and occupies a large area in the abdominal cavity. These factors preclude the use of ordinary endoscopy and X-ray to thoroughly examine the small intestine for bleeding of vascular malformations. Thus,the diagnosis of intestinal bleeding is very difficult. A 47-year-old man presented at the hospital 5 mo ago with dark stool. Several angiomas were detected by oral approach enteroscopy,but no active bleeding was observed. Additionally,no lesions were detected by anal approach enteroscopy;however,gastrointestinal tract bleeding still occurred for an unknown reason. We performed an abdominal vascular enhanced computed tomography examination and detected ileal vascular malformations. Ileum angioma and vascular malformation were detected by a laparoscopic approach,and segmental resection was performed for both lesions,which were confirmed by pathological diagnosis. This report systemically emphasizes the imaging findings of small intestinal vascular malformation bleeding.

Thalidomide for refractory gastrointestinal bleeding from vascular malformations in patients with significant comorbidities

BACKGROUND Refractory gastrointestinal bleeding(GIB)secondary to gastrointestinal vascular malformations(GIVM)such as gastrointestinal angiodysplasia(GIAD)and gastric antral vascular ectasia(GAVE)remains challenging to treat when endoscopic therapy fails.Recently thalidomide has been suggested as a treatment option for refractory GIB.AIM To determine the outcome of patients treated with thalidomide for refractory GIB due to GIVM.METHODS IRB approved,single center,retrospective review of electronic medical records from January 2012 to November 2018.Patients age>18 years old,who had>3 episodes of GIB refractory to medical or endoscopic therapy,and who had been treated with thalidomide for at least 3 mo were included.The primary endpoint was recurrence of GIB 6 mo after initiation of thalidomide.RESULTS Fifteen patients were included in the study,all with significant cardiac,hepatic,or renal comorbidities.The cause of GIB was GIAD in 10 patients and GAVE in 5 patients.Two patients were lost to follow up.Of the 13 patients followed,38.5%(n=5)had no recurrent GIB or transfusion requirement after treatment with thalidomide.Furthermore,84.6%(n=11)of patients had a reduction in transfusion requirements and hospitalizations for GIB.Thalidomide was discontinued in 2 patients due to cost(n=1)and medication interaction(n=1).Reported adverse reactions included fatigue(n=3),neuropathy(n=2),dizziness(n=1),and constipation(n=1).Six patients died during follow up due to unknown cause(n=4)and sepsis(n=2).CONCLUSION Thalidomide appears to be an effective treatment for refractory GIB due to GIAD or GAVE in a Western population with significant comorbidities.

AN EVALUATION OF THE EFFECT OF THE ACCESSORY PREOPERATIVE ARTERIAL EMBOLIZATION FOR MAXILLOFACIAL VASCULAR MALFORMATION

Eleven patients with maxillofacial vascular malformations were reported and their treatment was discussed. Our results demonstrated that the accessory preoperative transcatheter arterial embolization with gelfoam for vascular malformations could effectively decrease blood loss and blood transfusion, keep the operative feild clear, shorten operative time, Facilitate radical resection of the lesion and improve the successful rate of operation. The ligation of afferent vessels and external carotid artery was in futility and even deleterious effects.

Vascular Malformation with Multiple Organized Thromboses in Buccal Region

Vascular malformations occur most frequently in the maxillofacial and oral regions. Although many cases of vascular malformations with phlebolithiasis have been reported, only few reports have documented cases of thrombosis formation. We report a rare case of a vascular malformation with multiple thromboses in the left buccal region. A 28-year-old woman had a painless swelling in the left cheek when she consulted our hospital. T1-weighted magnetic resonance imaging revealed a low-signal lesion, having the same intensity as the muscle, in the left buccal region, and T2-weighted imaging revealed a high-signal lesion. Additionally, three tuberous tumours were noted in this lesion showing both a light high signal on T1-weighted imaging and a low signal on T2-weighted imaging. Based on these imaging findings, as well as clinical and pathological findings, the patient was diagnosed with multiple vascular malformations in the left midfacial region. The three tuberous tumours showed necrotic tissue in the central area, which was formed by calcified and concentric fibrous tissue, and vascularization. Because tumorous lesion and typical vascular structure by the Elastica Van Gieson staining were not observed, these tumours were seemed that fibrin thrombus in this lesion formed the organized tissue.

Management of Vascular Malformations in Dangerous Area of Oral Cavity: The Iranian Experience and Review of Treatment Modalities

Aim: To evaluate the effect of a highly potent corticosteroid (dexamethasone) in the treatment of vascular malformation when the location is difficult to reach and complications such as uncontrolled bleeding is predictable in surgery. Background: Vascular malformation is not a common lesion in oral cavity especially in alveolar ridge with extension to the pillar uvula. These lesions arise from capillary or venous malformations with various surgical or non-surgical treatment modalities. Case Description: We performed weekly intralesional injection of dexamethasone in a patient with a vascular malformation in alveolar ridge extending to the lingual side of alveolar ridge and posterior extension to the uvula. Complete resolution of lesion was observed after 6th injection. Conclusion: Intralesional injection of dexamethasone is a potentially curative method to treat oral vascular malformation. Clinical Significance: Injection of dexamethasone is a simple and cost-effective therapy that can be used as a safe treatment for vascular malformations prior to or as a substitute for surgery.

Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient:A case report

BACKGROUND Neurofibromatosis type 1(NF-1)is a common autosomal dominant genetic disorder.It is characterized by café-au-lait spots and cutaneous neurofibromas.Although NF-1 typically involves the skin,nerves,bones,and eyes,vascular manifestation in the form of devastating hemorrhage can occur rarely.CASE SUMMARY We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation.She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission.The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area.Computed tomography angiography showed right lower limb arteriovenous malformation.Therefore,the patient underwent emergency right lower limb digital subtraction angiography(DSA)and vascular embolization after blood transfusions.However,after DSA,vascular embolization,and repeated blood transfusions,the anemia and right lower limb swelling and tenderness did not improve.As a result,the patient underwent right lower extremity above-knee amputation.After amputation,the patient's hemoglobin level improved significantly without blood transfusion,and she was discharged from the hospital after the incision healed.Postoperative pathological examination suggested neurogenic tumors.No other complications had occurred 1-year follow-up.CONCLUSION Vascular malformation and rupture are fatal complications of NF-1.Embolization may not provide complete relief,the patient might need to undergo neurofibroma resection or amputation.

Endovascular Treatment and Selective Image Guided Partial Resection of Epidural Spinal Vascular Malformation in Klippel-Trenaunay Syndrome: Case Report

Background: Klippel-Trenaunay-Weber syndrome is a rare congenital condition that may involve the central nervous system with extensive vascular malformations, and soft-tissue hypertrophy of the affected limb. Methods: A 51-year-old patient underwent previous procedures including decompressive laminectomy and endovascular embolization using Onyx and a self-expandable stent. However, recanalization of the malformation was observed, his symptoms progressed, and the decision was made to undergo selective surgical resection with intraoperative image guidance using Stealth system paired with the O-arm. Results: Adequate decompression of the affected spinal cord and cervical roots were obtained, and the patient’s symptoms improved. Conclusion: Since the typical anatomic landmarks were obliterated by the extensive vascular malformation and previous surgery, intraoperative image guidance proved to be very beneficial. This case reports on the usage of spinal navigation to efficiently dissect out the affected nerve roots and avoid vascular injury by referencing the Onyx and stent.

Microsurgery for brainstem vascular malformation:report of 19 cases

Objective To investigate the microsurgical treatment of brainstem vascular malformation and evaluate the surgical outcome. Methods Brain stem vascular malformations in 19 cases were resected by microsurgical techniques. Six cases of cavernous malformations (CM) in the dorsal of pons and medulla underwent

Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.

Late Discovery of a Vein of Galen Aneurysmal Malformation Complicated with Hydrocephalus: A Case Report

The aneurysmal malformation of the vein of Galen is a rare condition, corresponding to less than 1% of intracranial vascular malformations. It is a disease affecting mainly newborns and small children. We are reporting the case of an 11-year-old teenager who presented consciousness disorders associated to generalized convulsive seizures. The cerebral CT scan supplemented by an angioscanner, revealed an important expansive process in the pineal region, confirming the diagnosis of an aneurysmal malformation of the Galen’s ampulla with upstream obstructive hydrocephalus. The child benefited from a ventriculo-peritoneal shunt with favorable immediate operative sequels. His death occurred at home two months after surgery over the course of a convulsive seizure with post critical coma.

预见性干预在介入手术治疗儿童脉管畸形中的应用价值

目的 探讨预见性护理干预对脉管畸形患儿经介入治疗在预防或降低常见并发症、不良反应中的应用价值,患者及家属焦虑情绪改善和满意度评价。方法 选取河北省儿童医院2019~2022年介入治疗936例脉管畸形患儿,随机等分为对照组和观察组,每组468例。对照组采用一般护理方法,遵照医嘱执行治疗和护理至出院。观察组在一般护理基础上,采用预见性护理干预。比较2组患儿发热、腹泻、哭闹烦躁、疼痛、呕吐等不良反应发生情况;比较经血管栓塞剂,硬化剂注射治疗后发生感染、皮肤糜烂、局部组织缺损,穿刺部位出血等并发症发生情况;比较2组患儿及家属焦虑情绪状态;比较满意度问卷调查结果。结果 观察组患儿不良反应、并发症发生率低于对照组,差异有统计学意义(P<0.05);观察组患者及家属焦虑情绪明显好转,且满意度问卷调查结果,观察组满意度优于对照组,差异均有统计学意义(P<0.05)。结论 预见性护理干预在介入治疗儿童脉管畸形中能够降低不良反应/并发症发生率,患儿及家属摆脱焦虑情绪状态,满意度得到明显提升,有助提高介入治疗儿童脉管畸形的疗效。

头颈部血管瘤及脉管畸形手术治疗专家共识

血管瘤及脉管畸形是头颈部常见的良性脉管源性疾病,随着对非手术治疗方案的深入研究与广泛应用,大量患者在微创或无创情况下得以改善或治愈疾病,但在特定情况下,手术依然是血管瘤及脉管畸形综合序列治疗中不可替代的治疗手段。然而,针对头颈部血管瘤及脉管畸形,如何选择和应用手术诊疗技术,学术界尚未形成规范和共识。为进一步提高国内同行对头颈部血管瘤及脉管畸形的治疗水平,规范和统一手术治疗策略,本文汇集全国多所医学院校及附属医院相关专家的讨论意见,借鉴和参考国内外相关最新成果与诊治经验,从头颈部血管瘤及脉管畸形的临床诊断及术前准备、手术适应证及策略、术后护理及观察、术后常见并发症及处理、随访及社会心理支持等方面,制定此专家共识,以帮助和指导相关专业的医师开展规范化手术治疗。

影像学检查在遗传性出血性毛细血管扩张症中的诊断价值探讨

目的探讨影像学检查在遗传性出血性毛细血管扩张症(HHT)中的诊断价值。方法回顾性分析2019年10月至2024年3月在首都医科大学附属北京安贞医院经临床明确诊断的累及肝脏的7例HHT患者的临床资料。收集患者的临床表现、影像学检查结果[包括超声、CT血管造影(CTA)及右心导管],并总结HHT在不同影像学方法中的诊断特征。结果7例HHT患者中鼻出血6例、贫血5例、皮肤和黏膜的毛细血管扩张3例、咯血和消化道出血各2例,下肢水肿5例、盆腔积液和腹胀各2例。7例患者均有肺动脉高压表现,3例患者合并心房颤动,3例出现肝功能异常,2例患者合并右心衰竭,1例患者合并结缔组织病。所有患者均接受腹部彩色多普勒超声检查,均呈肝脏受累表现,7例患者均探及肝内外动脉明显迂曲扩张,血流速度明显增快;其中4例患者肝内见异常迂曲血管环;4例多发分支血管团;5例患者有肝脏动静脉畸形。经肺血管CTA检查提示合并肺动静脉瘘5例,3例患者呈多发肺动静脉瘘表现;所有患者均接受右心导管检查并呈现不同程度的肺动脉高压。6例患者接受肺动脉高压靶向治疗,2例患者接受基因检测呈阳性。结论HHT女性患者多见,HHT累及肝脏的超声表现具有特异性,CTA和右心导管检查可以及时评估患者肺血管受累情况及肺动脉压力,为靶向治疗的开展提供有效证据。