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.

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.

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.

Diagnosis and treatment of venous malformations in China: consensus document

Venous malformations(VMs) are the most common vascular developmental anomalies. There are many controversies over VMs in Chinese clinical medical practice. Experts on the panel from vascular-anomaly centers in China reviewed the etiology, pathophysiology, epidemiology, classification, clinical presentations, diagnosis, and treatment of VMs. The aim of this consensus document is to provide recommendations for, and assist clinicians and patients in, the diagnosis and treatment of VMs.

Late Diagnosis of Anorectal Malformations in Children

Anorectal malformations (ARM) include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often associated with congenital anomalies of other organ systems. They appear with different clinical presentations ranging from simple imperforate anal membrane to very complex defects. They are usually detected immediately after birth or early at neonatal age, but some patients with the milder defects are diagnosed at a later age. Objectives: The aim of this study is to analyze the incidence of patients with ARM diagnosed after neonatal period, clinical features and consequences of delayed diagnosis. Materials and Methods: Since 2010 we performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations, diagnosed and treated at our clinic between 2005 and 2014. We analyzed patients’ age at the time of diagnosis, sex, type of defect, associated anomalies and postoperative functional outcome. Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The earliest diagnosed patient was a male of three months of age, while the latest diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies, presented with anal stenosis (16), perineal fistula (1) and vestibular fistula (1). Six patients (33.33%) were also diagnosed with associated anomalies. Conclusion: High incidence of delayed diagnosis of ARM highlights the importance of a careful, comprehensive clinical examination of the perineum of newborns. All patients with severe and chronic constipation must be evaluated for eventually missed diagnosis of low type anorectal malformations.

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。

Vascular anomalies: A pictorial review of nomenclature,diagnosis and treatment

Vascular anomalies,including vascular malformations and tumors,are frequently straightforward to detect;however,accurate diagnosis and appropriate treatment are often challenging.Misdiagnosis of these lesions can lead clinicians in the wrong direction when treat-ing these patients,which can have unfavorable results.This review presents an overview of the classification systems that have been developed for the diagnosis of vascular lesions with a focus on the imaging charac-teristics.Pictorial examples of each lesion on physical examination,as well as non-invasive and minimally invasive imaging are presented.An overview of the en-dovascular treatment of these lesions is also given.In some cases,vascular anomalies may be associated with an underlying syndrome and several of the most com-monly encountered syndromes are discussed.Under-standing of the classification systems,familiarity with the treatment options and knowledge of the associated syndromes are essential for all physicians working with this patient population.The approach to the described entities necessitates an organized multi-disciplinary team effort,with diagnostic imaging playing an increas-ingly important role in the proper diagnosis and a com-bined interventional radiologic and surgical treatment method showing promising results.

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.

Etiology, pathogenesis, and diagnosis of neovascular glaucoma

Neovascular glaucoma is defined as iris and/or anterior chamber angle neovascularization associated with increased intraocular pressure. It is a secondary glaucoma that is most frequently caused by severe retinal ischemia. The most common diseases responsible for the development of neovascular glaucoma are diabetic retinopathy, ischemic central retinal vein occlusion,and ocular ischemic syndrome. Uncommon causes include ocular radiation, ocular tumors, uveitis and other miscellaneous conditions. Vascular endothelial growth factor is an important and likely predominant agent involved in the pathogenesis of intraocular neovascularization and neovascular glaucoma. The evolution of clinical and histopathological changes from predisposing conditions to the occurrence of rubeosis iridis and neovascular glaucoma is divided into four stages: prerubeosis, preglaucoma, open angle glaucoma, and angle-closure glaucoma.

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.

Diagnosis advances in vascular cognitive impairment

Vascular cognitive impairment（VCI） encompasses the entire range of cognitive deficits associated with cerebrovascular disease（CVD）, from mild deficits with little or no functional impairment, such as vascular cognitive impairment-no dementia（VCIND）, to full-blown vascular dementia（VaD）. Accurate diagnosis of vascular cognitive impairment is important but may be difficult. In this review we report advances in VCI in the following areas： etiology, subtypes, neuropsychology, biomarkers, neuroimaging, and diagnostic criteria.

Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

Accuracy of ultrasonography in diagnosis of fetal central nervous system malformation

BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system(CNS)malformations.METHODS One hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography,respectively.RESULTS According to the pathological results,there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation.Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography,and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography.The diagnostic sensitivity(92.41%)and accuracy(91.15%)of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography(64.56% and 68.14%,respectively)(P=0.000).The specificity of three-dimensional ultrasonography(88.24%)was higher than that of two-dimensional ultrasonography(76.47%);however,the difference was not significant(P=0.203).CONCLUSION Three-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations.In addition,the image quality is clear,and the diagnostic sensitivity and accuracy are high.

Usefulness of prenatal magnetic resonance imaging in differential diagnosis of fetal congenital cystic adenomatoid malformation and bronchopulmonary sequestration

BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and the clinical diagnosis and treatment plan is usually prepared prior to birth.Therefore,it is quite necessary to make a clear diagnosis before delivery.CCAM and BPS have similar imaging features,and the differentiation mainly relies on the difference in supply vessels.However,it is hard to distinguish them due to invisible supplying vessels on some images.AIM To explore the application value of magnetic resonance imaging(MRI)in the differential diagnosis of fetal CCAM and BPS.METHODS Data analysis for 32 fetuses with CCAM and 14 with BPS diagnosed by prenatal MRI at Huzhou Maternal and Child Health Care Hospital and Anhui Provincial Children’s Hospital from January 2017 to January 2020 was performed to observe the source blood vessels of lesions and their direction.Pathological confirmation was completed through CT examination and/or operations after birth.RESULTS After birth,31 cases after birth were confirmed to be CCAM,and 15 were confirmed to be BPS.The CCAM group consisted of 21 macrocystic cases and 10 microcystic cases.In 18 cases,blood vessels were visible in lesions.Blood supply of the pulmonary artery could be traced in eight cases,and in 10 cases,only vessels running from the midline to the lateral down direction were observed.No lesions were found in four macrocystic cases and one microcystic case with CCAM through CT after birth;two were misdiagnosed by MRI,and three were misdiagnosed by prenatal ultrasonography.The BPS group consisted of 12 intralobar cases and three extralobar cases.Blood vessels were visible in lesions of nine cases,in four of which,the systemic circulation blood supply could be traced,and in five of which,only vessels running from the midline to the lateral up direction were observed.Three were misdiagnosed by MRI,and four were misdiagnosed by prenatal ultrasonography.CONCLUSION CCAM and BPS can be clearly diagnosed based on the origin of blood vessels,and correct diagnosis can be made according to the difference in the direction of the blood vessels,but it is hard distinguish microcystic CCAM and BPS without supplying vessels.In some CCAM cases,mainly the macrocystic ones,the lesions may disappear after birth.

Room for improvement: Patterns of referral misdiagnosis to a vascular anomalies center

Objective: Vascular anomalies are a diagnostic and therapeutic challenge. Errors in diagnosis lead to treatment delay, inappropriate interventions and prolonged suffering. The aim of this study was to analyze patterns of misdiagnosis among patients referred to a vascular anomalies center (VAC). This will better define the problem and may be used to refine and improve referral guidelines for patients with vascular anomalies. Patients and Methods: After IRB approval, we performed a single-center retrospective review of all patients referred to a vascular anomaly between January 1, 2008 and December 15, 2011. Evaluation of both referral and final diagnosis was made. Data regarding accuracy of diagnosis were determined and compared for both vascular tumors and malformations. Results: Mean age was 7.9 ± 7.7 (13 days - 66 years). 42% had a correct diagnosis at the time of referral. Vascular tumors were correctly diagnosed more often than vascular malformations (58% vs 38%). The most common misdiagnosis for infantile hemangioma (IH) was venous malformation (VM). The most common misdiagnosis for VM was IH. Nonspecific and historical terms such as “mass”, “lymphangioma”, and “cavernous hemangioma” frequently appear as the referral diagnosis. Conclusion: Referral misdiagnosis is common. IH and VM are frequently confused and if there is any uncertainty in the diagnosis, these patients should also be referred to a VAC, in addition to the more complicated anomalies. Outdated nomenclature remains prevalent and continued efforts should be made to adhere to International Society for the Study of Vascular Anomalies (ISSVA) classification. Improvements in diagnostic accuracy are likely to greatly improve patients’ care.

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.

CT and MRI Findings of Intracranial Cavernous Hemangioma Malformation

Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical information of 23 patients with CHM were retrospectively analyzed.Results:CT examinations were conducted in 7 cases,while MRI was utilized in 23 cases.Additionally,SWI was employed in 5 cases and enhanced imaging techniques were applied in 14 cases.Among the observed lesions,20 cases presented with a singular lesion,whereas 3 cases exhibited multiple lesions.The lesions were located in 8 frontal lobes,6 cerebellums,2 brainstems,6 temporal lobes,1 basal ganglia,3 parieto-occipital lobes,and 2 thalamus regions.The nodules appeared as quasi-circular lesions with clear or well-defined boundaries.They presented as isodense lesions on CT scans,with one lesion showing peritumoral edema.On MRI,T1-weighted imaging(T1WI)demonstrated isointense signals,while T2-weighted imaging(T2WI)showed isointense and hyperintense signals.Additionally,10 lesions exhibited a low signal ring on T2WI.Diffusion-weighted imaging(DWI)revealed nodular or isointense low signals,while susceptibility-weighted imaging(SWI)displayed enlarged areas of low signal.Fourteen lesions underwent contrast-enhanced scanning,with 2 lesions showing no obvious enhancement,1 lesion demonstrating mild to moderate enhancement,and 11 lesions exhibiting significant enhancement.Notably,6 of these enhanced lesions were surrounded by small blood vessels.Conclusion:Cavernous hemangioma malformation is more commonly found in individual cases.CT alone lacks specificity,making it prone to misdiagnosis.A more comprehensive evaluation of cavernous hemangioma malformation can be achieved through a combination of MRI,DWI,SWI,and enhanced examination,providing valuable references for clinical assessment.

Robust Genetic Diagnosis of Split Hand–Foot Malformation by Exome Sequencing

Purpose The present study aimed to evaluate the genetic diagnostic yield and accuracy of exome sequencing in Chinese patients with split hand–foot malformation(SHFM),a severe heterogeneous congenital anomaly characterized by hypodevelopment of the central ray of the hands and feet.Methods A cohort of seven families and five sporadic patients with SHFM was investigated.Genomic DNA was prepared from the peripheral blood of affected as well as unaffected individuals.Whole exome sequencing(WES)was performed to identify the pathogenic mutations.Array-based comparative genomic hybridization(aCGH),CytoScan,quantitative polymerase chain reaction(qPCR),and Sanger sequencing were performed to validate the findings of WES.WES data of an additional cohort of 24 patients with non-SHFM congenital hand anomalies were analyzed as the control.Results Pathogenic variants of TP63,c.G956A p.R319H,and c.T602A:p.L201H,were identified in two families by WES.In the remaining patients,copy number analysis of the WES data by XHMM software identified pathogenic 10q 24 duplication in five individuals from three families,which was further validated via CytoScan and qPCR;however,WES could not detect duplication in 10q24 in an additional cohort of 24 individuals with non-SHFM congenital hand anomaly.Importantly,qPCR analysis of the 10q24 region copy number revealed a definite consistency with WES data in all individuals.Genotype–phenotype analysis did not present any unique feature that could differentiate between the families with TP63 mutation and 10q24 duplication.Conclusions Our study demonstrated that WES is an accurate and sensitive method to detect the pathogenic 10q24 duplication.Collectively,with TP63 mutation,a single WES testing could yield a diagnosis rate of about 40%(5/12)for the SHFM patients,at least in our cohort.As the genotype–phenotype correlation remains unclear,WES could be used as a cost-effective method for the genetic diagnosis of SHFM.

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.