scholarly journals Intermixed arteriovenous malformation and hemangioblastoma: case report and literature review

CNS Oncology ◽  
2020 ◽  
Vol 9 (4) ◽  
pp. CNS66
Author(s):  
Vincent Healy ◽  
Philip J O'Halloran ◽  
Mohammed B Husien ◽  
Ciaran Bolger ◽  
Michael Farrell

We report the third presentation of an intermixed arteriovenous malformation and hemangioblastoma. The rare occurrence of the diagnostic histologic features of both a neoplasm and vascular malformation in a single lesion is more common in gliomas, as angioglioma, and is termed an 'intermixed’ lesion. We review the literature concerning the developmental biology of each lesion, and potential interplay in the formation of an intermixed vascular neoplasm and vascular malformation. The roles of cellular origin, genetic susceptibility, favourable microenvironment, altered local gene expression and key regulatory pathways are reviewed. Our review supports angiography and genetic profiling in intermixed lesions to inform management strategies. Consideration should be given to multimodality therapeutic interventions as required, including microsurgical resection, stereotactic radiosurgery and further research to exploit emerging molecular targets.

Author(s):  
Virender Malik ◽  
Harshith Kramadhari ◽  
Jawahar Rathod ◽  
Yadav W. Munde ◽  
Uday Bhanu Kovilapu

AbstractThe peripheral high-flow vascular malformation (HFVM) comprises arteriovenous malformation (AVM) and fistula (AVF), shows varied clinical presentation (ranging from subtle skin lesion to life-threatening congestive heart failure), and frequently poses diagnostic and therapeutic challenges. Importance of assigning a specific diagnosis to the vascular malformation cannot be overstated, as the treatment strategy is based on the type of vascular anomaly. Although the International Society for the Study of Vascular Anomalies (ISSVA) classification system is the most commonly accepted system for classifying congenital vascular anomalies in clinical practice, the Cho–Do et al classification is of utmost help in guiding optimal mode of treatment in peripheral AVM. Although transarterial approach remains the most commonly employed route for peripheral AVM embolization, the role of transvenous and direct percutaneous approach is ever increasing and the final decision on the approach depends on angioarchitecture of the AVM. In this article, we review various commonly employed classification systems for congenital vascular anomalies, and describe clinical features, imaging and treatment strategies for peripheral arteriovenous malformation (PAVM).


2007 ◽  
Vol 22 (6) ◽  
pp. 253-257 ◽  
Author(s):  
B B Lee ◽  
J Laredo ◽  
S J Lee ◽  
S H Huh ◽  
J H Joe ◽  
...  

Venous malformation (VM) is the most common congenital vascular malformation (CVM), which usually presents as a single lesion in the majority of cases. It also presents as a mixed lesion combined with other CVMs (e.g. lymphatic malformation and arteriovenous malformation [AVM]). Therefore, the diagnosis of VM should include an appropriate work-up, to not only confirm and characterize the VM as either extratruncular or truncular but also to diagnose or exclude the presence of other CVMs. The diagnosis of VM can be made safely using non-invasive to minimally invasive studies, which can also distinguish VM from infantile haemangioma. Invasive studies, such as venography and arteriography, are generally reserved for therapeutic planning and diagnosis of more virulent CVMs (e.g. AVM). The work-up of VM should include a complete assessment of the extent and severity of the primary VM lesion. In addition, its embryologic origin, as well as its haemodynamic characteristics and secondary effects should also be determined.


2017 ◽  
Vol 43 (videosuppl1) ◽  
pp. V6
Author(s):  
William T. Couldwell

This video demonstrates stereotactic-guided resection of a ruptured diffuse left temporal arteriovenous malformation (AVM) in an adolescent male who presented with headache and speech difficulties. The diffuse nidus of the AVM, 25 mm in size, was located in the posterior superior temporal gyrus, with drainage into the sylvian veins (Spetzler-Martin Grade II). The AVM was located stereotactically, and resection was performed through a small corticectomy. The clot cavity was evacuated. Feeding branches to the AVM were identified during careful dissection, and parent M1 and M2 branches were preserved. The patient recovered well, with no residual speech deficit. Postoperative angiogram demonstrated complete AVM removal.The video can be found here: https://youtu.be/Sttc86H8jCw.


Stroke ◽  
2012 ◽  
Vol 43 (suppl_1) ◽  
Author(s):  
Shantel Weinsheimer ◽  
Nasrine Bendjilali ◽  
Ludmila Pawlikowska ◽  
Pui-Yan Kwok ◽  
Michael T Lawton ◽  
...  

Background: The genetic basis of brain arteriovenous malformation (BAVM), a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation, is unknown. However, there are two rare vascular disorders with known familial mutations in which a subset of patients display a BAVM phenotype: hereditary hemorrhagic telangiectasia ( ACVRL1 , ENG , and SMAD4 mutations) and capillary malformation-arteriovenous malformation ( RASA1 mutations). To investigate whether variants in these four vascular malformation genes are associated with sporadic BAVM, we performed a case-control study, evaluating both single nucleotide polymorphisms (SNPs) and copy number variation (CNV). Methods: We used genome-wide data (Affymetrix SNP 6.0) from 319 cases and 496 healthy controls. There were 27 unlinked SNPs (r 2 <0.8) on the array with minor allele frequency >1% and in Hardy-Weinberg equilibrium (p>0.01) mapping within 20kb of the four genes: ACVRL1 (n=16), ENG (n=6), SMAD4 (n=2), and RASA1 (n=3). Single SNP association was tested using multivariate logistic regression in PLINK, adjusting for age, gender, and top 3 principal components of ancestry (to control for population stratification). The Bonferroni method (p<0.0019) was used to correct for multiple comparisons. CNVs in these genes were called using the PennCNV algorithm. Results: Two SNPs located upstream and downstream of ACVRL1 were associated with BAVM at nominal p<0.05: rs10783480 (OR=0.69, 95% CI=0.50 - 0.96, p=0.029,) and rs11169956 (OR=0.69, 95% CI=0.48 - 0.99, p=0.046). However, these SNPs were not associated with BAVM after correction for multiple testing of all SNPs. Polymorphisms in the RASA1 , ENG , and SMAD4 genes were not significantly associated with BAVM (p>0.05). We observed one CNV, a duplication that mapped to the ACVRL1 gene, in one control. We did not observe any CNVs mapping to RASA1 , ENG , or SMAD4 . Conclusions: Common SNPs and CNVs in four vascular malformation genes associated with inherited disorders displaying BAVM were not significantly associated with sporadic BAVM. A previously reported ACVRL1 intronic SNP (rs2071219) was not on the Affymetrix array and none of the existing ACVRL1 SNPs tagged this SNP. Further, rare polymorphisms in these genes were not genotyped and may contribute to BAVM risk.


Author(s):  
Shampa Ghosh ◽  
Srividya Manchala ◽  
Manchala Raghunath ◽  
Gaurav Sharma ◽  
Abhishek Kumar Singh ◽  
...  

: Obesity has become a worldwide health problem. It triggers additional co-morbidities like cardiovascular diseases, cancer, depression, sleep disorders, gastrointestinal problems and many more. Excess accumulation of fat in obesity could be caused by many factors like sedentary lifestyle, consumption of high fat diet, genetic predisposition, etc. Imbalanced energy metabolism i.e., greater energy consumption than utilisation, invariably underlies obesity. Considering the high prevalence and continuous, uncontrolled increase of this major public health issue, there is an urgent need to find appropriate therapeutic agents with minimal or no side effects. The high prevalence of obesity in recent years has led to a surge in the number of drugs available in the market that claim to control obesity. Although there is a long list of medicines and management strategies that are available, selecting the right therapeutic intervention and feasible management of obesity is a challenge. Several phytochemicals like hydroxycitric acid, flavonoids, tannins, anthocyanins, phytohaemagglutins, thymoquinone and epigallocatechin gallate have been shown to possess promising anti-obesity properties. However, studies providing information on how various phytochemicals exert their anti-obesity effects are inadequate. This calls for more experimentation in this less explored area of research. Additionally, the complication of obesity arises when it is a result of multiple factors and associated with a number of co-morbidities. In order to handle such complexities combinatorial therapeutic interventions become effective. In this review, we have described the medicinal chemistry of different highly effective phytochemicals which can be used in the effective treatment and management of obesity.


2019 ◽  
Vol 19 (2) ◽  
pp. E185-E186
Author(s):  
Qazi Zeeshan ◽  
Juan P Carrasco Hernandez ◽  
Laligam N Sekhar

Abstract This 42-yr-old man presented with a history of sudden right-sided facial and right arm weakness and dysarthria. Head computed tomography showed a left frontal-parietal blood clot. An intra-arterial digital subtraction angiography demonstrated a left subcortical postcentral, Spetzler-Martin Grade 3 arteriovenous malformation (AVM) with a diffuse nidus, measuring 2.1 × 1.5 cm, supplied by branches of the left MCA, and draining into a cortical vein and a deep vein, which was going toward the ventricle. Preoperative embolization was not possible.  The patient underwent left frontal-parietal craniotomy with intraoperative motor and sensory mapping. No arterialized veins were visible on the cortical surface. Neuronavigation localized the AVM in the subcortical postcentral gyrus. Through an incision in the postcentral sulcus, microdissection led to a yellowish gliotic plane. The large cortical vein was in the gliotic area and traced to the AVM. Circumferential microdissection was performed around the AVM. It had a very diffuse nidus; the arterial feeders were cauterized and divided, and the superior superficial and inferior deep draining veins were finally occluded, and AVM was removed.  Postoperative angiogram showed total removal of the AVM. At discharge, his right arm weakness had improved (power 5/5), and facial weakness and dysarthria were improving (modified Rankin Scale (mRS) 2). At 1-yr follow-up, facial weakness and dysarthria had improved considerably, and patient returned to work (mRS 1).  This video shows microsurgical resection of an AVM by neuronavigation and tracing of the subcortical draining vein. The technique of cauterizing the perforating arteries after temporary clipping with flow arrest is shown in the video. Informed consent was obtained from the patient prior to the surgery that included videotaping of the procedure and its distribution for educational purposes. All relevant patient identifiers have also been removed from the video and accompanying radiology slides.


2010 ◽  
Vol 14 (2) ◽  
pp. 32
Author(s):  
Aadil Ahmed

Hepatic vascular lesions are not an uncommon finding in children, and represent the most common benign liver tumours to present in infancy. We present a case of a complex vascular malformation with an intrahepatic component suggestive of a venous/arteriovenous malformation as well as a large extrahepatic lesion. The extrahepatic mass was present in both sub- and supra-diaphragmatic locations ,with features of a congenital haemangioma. In view of the clinical presentation and different imaging appearances, this case was felt to be interesting in its radiological workup, management and eventual unusual pathology.


1973 ◽  
Vol 39 (1) ◽  
pp. 104-108 ◽  
Author(s):  
Ben B. Scott ◽  
Joachim F. Seeger ◽  
Richard C. Schneider

✓ A posterior fossa exploration was performed on a child thought initially to have an inoperable brain stem lesion. A pontine hematoma was discovered and evacuated. The pathological specimen was designated as a “cryptic” arteriovenous malformation. All preoperative neurological deficits disappeared except for a minimal left seventh nerve palsy.


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