scholarly journals Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Nikolaos Mouchtouris ◽  
Nohra Chalouhi ◽  
Ameet Chitale ◽  
Robert M. Starke ◽  
Stavropoula I. Tjoumakaris ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Vascular Malformations ◽  
Imaging Techniques ◽  
Neurological Deficits ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Microsurgical Resection ◽  
Different Characteristics ◽  
The Brain ◽  
Methods Of Treatment

Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

Aeromedical Implications of Cerebral Cavernomas

2021 ◽  
Vol 92 (2) ◽  
pp. 120-123
Author(s):  
Tania Jagathesan ◽  
Michael OBrien
Keyword(s):  
Clinical Presentation ◽  
Clinical Symptoms ◽  
Civil Aviation ◽  
Complication Rates ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Medical Certification ◽  
The Uk ◽  
Age Range ◽  
The Brain

BACKGROUND: Cavernomas, cavernous angiomas, or cerebral cavernous malformations are clusters of endothelium-lined blood vessels usually found in the brain. With the increasing use of radiological imaging, these are being detected incidentally in asymptomatic aircrew. The UK Civil Aviation Authority (CAA) experience of cavernomas is described and the aeromedical concerns, that is, the risk of epilepsy, hemorrhage, and the development of a neurological deficit, are considered.METHODS: A search of the CAA database between 1990 and 2020 was performed for the term cavernoma. The gender, age at diagnosis, class of certification held, clinical presentation, location, and size of the lesion were noted. A PubMed literature review for papers with complications of cavernoma was performed.RESULTS: Six cases of cavernoma have been declared to the CAA: five professional pilots and one private pilot. Five were men and one was a woman. The age range was between 38 and 60 yr, with a mean of 48 yr. Two cases presented with clinical symptoms and four were asymptomatic. Complication rates for seizure and hemorrhage were extracted from the published literature together with the significance of other factors such as cavernoma size, family history, multiplicity, and the development of new lesions.DISCUSSION: A policy for the medical certification of aircrew with cavernomas that have presented with clinical symptoms and those that are detected incidentally is proposed.Jagathesan T, OBrien M. Aeromedical implications of cerebral cavernomas. Aerosp Med Hum Perform. 2021; 92(2):120123.

Effective surgical treatment of cerebral cavernous malformations: a multicenter study of 79 pediatric patients

2011 ◽  
Vol 8 (5) ◽  
pp. 522-525 ◽  
Author(s):  
Michael Hugelshofer ◽  
Nicola Acciarri ◽  
Ulrich Sure ◽  
Dimitrios Georgiadis ◽  
Ralf W. Baumgartner ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Refractory Epilepsy ◽  
Epileptic Seizures ◽  
Neurological Deficits ◽  
Vascular Lesions ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Persistent Symptoms ◽  
The Mean ◽  
The Brain

Object Cerebral cavernous malformations (CCMs) are common vascular lesions in the brain, affecting approximately 0.5% of the population and representing 10%–20% of all cerebral vascular lesions. One-quarter of all CCMs affect pediatric patients, and CCMs are reported as one of the main causes of brain hemorrhage in this age group. Symptoms include epileptic seizures, headache, and focal neurological deficits. Patients with symptomatic CCMs can be treated either conservatively or with resection if lesions cause medically refractory epilepsy or other persistent symptoms. Methods The authors retrospectively analyzed 79 pediatric patients (41 boys and 38 girls) from 3 different centers, who were surgically treated for their symptomatic CCMs between 1974 and 2004. The mean age of the children at first manifestation was 9.7 years, and the mean age at operation was 11.3 years. The main goal was to compare the clinical outcomes with respect to the location of the lesion of children who preoperatively suffered from epileptic seizures. Results Of these patients, 77.3% were seizure free (Engel Class I) after the resection of the CCM. Significant differences in the outcome between children who harbored CCMs at different locations were not found. Conclusions Resection seems to be the favorable treatment of symptomatic CCMs not only in adults but also in children.

scholarly journals Genetic Genealogy Uncovers a Founder Deletion Mutation in the Cerebral Cavernous Malformations 2 Gene

2021 ◽  
Author(s):  
Carol J Gallione ◽  
Matthew R Detter ◽  
Henrietta M Christmas ◽  
Cornelia Lee ◽  
Douglas A Marchuk
Keyword(s):  
Vascular Malformations ◽  
Cerebral Cavernous Malformations ◽  
Autosomal Dominant Trait ◽  
Cavernous Malformations ◽  
North American Continent ◽  
The North ◽  
Genealogical Data ◽  
The Brain ◽  
Recombination Junction ◽  
Pair Level

Abstract Cerebral cavernous malformations (CCM) are vascular malformations consisting of collections of enlarged capillaries occurring in the brain or spinal cord. These vascular malformations can occur sporadically or susceptibility to develop these can be inherited as an autosomal dominant trait due to mutation in one of three genes. Over a decade ago, we described a 77.6 Kb germline deletion spanning exons 2-10 in the CCM2 gene found in multiple affected individuals from seemingly unrelated families. Segregation analysis using linked, microsatellite markers indicated that this deletion may have arisen at least twice independently. In the ensuing decades, many more CCM patients have been identified with this deletion. In this present study we examined 27 reportedly unrelated affected individuals with this deletion. To investigate the origin of the deletion at base pair level resolution, we sequenced approximately 10 Kb upstream and downstream from the recombination junction on the deleted allele. All patients showed the identical SNP haplotype across this combined 20 Kb interval. In parallel, genealogical records have traced 11 of these individuals to five separate pedigrees dating as far back as the 1600-1700’s. These haplotype and genealogical data suggest that these families and the remaining “unrelated” samples converge on a common ancestor due to a founder mutation occurring centuries ago on the North American continent. We also note that another gene, NACAD, is included in this deletion. Although patient self-reporting does not indicate an apparent phenotypic consequence for heterozygous deletion of NACAD, further investigation is warranted for these patients.

scholarly journals Genetic testing for cerebral cavernous malformations

2018 ◽  
Vol 2 (s1) ◽  
pp. 83-85
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Carla Marinelli ◽  
Leonardo D’Agruma ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Autosomal Dominant ◽  
Vascular Malformations ◽  
Cerebral Cavernous Malformations ◽  
Dominant Inheritance ◽  
Focal Neurological Deficit ◽  
Cavernous Malformations ◽  
Gene Test ◽  
Brain And Spinal Cord ◽  
The Brain

Abstract Cavernous cerebral malformations (CCM) are vascular malformations of the brain and spinal cord. CCM affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhage and focal neurological deficit. CCM may be familial or sporadic. Familial forms have autosomal dominant inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Management of incidental cavernous malformations: a review

2011 ◽  
Vol 31 (6) ◽  
pp. E5 ◽  
Author(s):  
Richard T. Dalyai ◽  
George Ghobrial ◽  
Issam Awad ◽  
Stavropoula Tjoumakaris ◽  
L. Fernando Gonzalez ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Vascular Malformations ◽  
Imaging Techniques ◽  
Therapeutic Interventions ◽  
Neurological Deficits ◽  
Optimal Management ◽  
Review Of The Literature ◽  
Cavernous Malformations ◽  
Concise Review ◽  
Symptomatic Intracranial Hemorrhage

Cavernous malformations (CMs) are angiographically occult vascular malformations that are frequently found incidentally on MR imaging. Despite this benign presentation, these lesions could cause symptomatic intracranial hemorrhage, seizures, and focal neurological deficits. Cavernomas can be managed conservatively with neuroimaging studies, surgically with lesion removal, or with radiosurgery. Considering recent studies examining the CM's natural history, imaging techniques, and possible therapeutic interventions, the authors provide a concise review of the literature and discuss the optimal management of incidental CMs.

scholarly journals Cerebral Cavernous Malformations, Developmental Venous Anomaly, and Its Coexistence: A Review

2020 ◽  
Vol 83 (4) ◽  
pp. 360-368 ◽  
Author(s):  
Pretty Sara Idiculla ◽  
Dhineshreddy Gurala ◽  
Jobin Philipose ◽  
Kartikeya Rajdev ◽  
Prateek Patibandla
Keyword(s):  
English Language ◽  
Vascular Malformations ◽  
Incidental Finding ◽  
Neurological Deficits ◽  
Vascular Lesions ◽  
Cerebral Cavernous Malformations ◽  
Developmental Venous Anomaly ◽  
Venous Anomaly ◽  
Cavernous Malformations ◽  
Acute Thrombosis

Background: Cerebral cavernous malformations (CCMs) are intracranial vascular malformations that can exist as a single lesion or mixed vascular lesions. The most common mixed form is the coexistence of CCM with an associated developmental venous anomaly (DVA). In this paper, we aim to give a comprehensive review of CCM, DVA, and their coexistence as mixed lesions. A PubMed search using the keywords “Cerebral cavernous malformations, Developmental venous anomaly, Mixed Cerebral cavernous malformations with Developmental venous anomaly” was done. All studies in the English language in the past 10 years were analyzed descriptively for this review. Summary: The search yielded 1,249 results for “Cerebral cavernous malformations,” 271 results for “Developmental venous anomaly,” and 5 results for “Mixed Cerebral cavernous malformations with Developmental venous anomaly.” DVA is the most common intracranial vascular malformation, followed by CCM. CCM can have a wide array of clinical presentations like hemorrhage, seizures, or focal neurological deficits or can also be an incidental finding on brain imaging. DVAs are benign lesions by nature; however, venous infarction can occur in a few patients due to acute thrombosis. Mixed CCM with DVA has a higher risk of hemorrhage. CCMs are angiographically occult lesion, and cerebral digital subtraction angiography is the gold standard for the diagnosis of DVA. Mixed lesions, on the other hand, are best diagnosed with magnetic resonance imaging, which has also been effective in detecting specific abnormalities. Asymptomatic lesions are treated through a conservative approach, while clinically symptomatic lesions need surgical management. Conclusion: Individual CCM or DVA lesions have a benign course; however, when they coexist in the same individual, the hemorrhagic risk is increased, which prompts for rapid diagnosis and treatment.

Cerebral Cavernous Malformations: Patient-Reported Outcome Validates Conservative Management

2017 ◽  
Vol 44 (5-6) ◽  
pp. 313-319 ◽  
Author(s):  
Vitor Chehuen Bicalho ◽  
Anke Bergmann ◽  
Flávio Domingues ◽  
João Thiago Frossard ◽  
Jorge Paes Barreto Marcondes de Souza
Keyword(s):  
Vascular Malformations ◽  
Patient Reported Outcome ◽  
Neurological Deficits ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Familial Form ◽  
Sf 36 ◽  
Patient Reported

Background: Cerebral cavernous malformations (CCM) are clusters of dilated sinusoidal channels lined by a single layer of endothelium. In contradistinction to arteriovenous malformations, these lesions do not have smooth muscle or elastin in their lining and they are angiographically occult, and the MRI is the most sensitive test for CCM detection. CCM are one of the most prevalent vascular malformations of the central nervous system, affecting about 0.4-0.6% of the general population. The main complication of this malformation is the risk of bleeding, which may cause neurological deficits that affect the quality of life (QoL) in patients. When symtomatic, they may be surgically treated for relieving the mass effect and seizures refractory to drug uses, hemorrhage and drug-refractory epilepsy. Patient-reported outcome (PRO) may be a strategy that can be used to evaluate QoL of CCM population and was used in a sample of non-operated patients. Methods: An observational, cross-sectional analysis to evaluate the PRO using the SF-36 and EuroQol 5 dimensions (EQ-5D) questionnaires of QoL added to functional metrics using the Karnofsky Performance Status (KPS) in 49 patients not submitted to intervention and with long-term follow-up. Results: During the 364 person-years of follow-up, there was an average of individual follow-up of 7.42 years. The mean age was 46.8 years (18-84) - 57% of them were female, 71% had superficial lesions, and 65% had the familial form. Comparisons of SF-36 dimensions with KPS graded <100 had a worse score only in terms of the pain (p = 0.04), vitality (p = 0.001), and general state of health (p = 0.03) domains. The domain mental health was worse in patients without surgical indication (p = 0.032). The functional capacity domain had the highest overall grading in the group. The EQ-5D dimensions of mobility (p = 0.03) and pain/discomfort (p = 0.001) were the ones with lower score compared to KPS <100. Conclusion: The study is the first to evaluate, with validated tools, the PRO of non-operated CCM patients and has demonstrated in a selected group of patients that it was possible to achieve long-term clinical stability, thereby maintaining QoL and functional neurological outcome.

scholarly journals Cavernous malformations of the brain and modern views on their treatment

2021 ◽  
Vol 2 (2) ◽  
pp. 200-210
Author(s):  
Elena N. Girya ◽  
Valentin V. Sinitsyn ◽  
Alexey S. Tokarev
Keyword(s):  
Radiation Therapy ◽  
Proton Therapy ◽  
Clinical Manifestations ◽  
Alternative Methods ◽  
Cerebral Cavernous Malformations ◽  
Cavernous Malformations ◽  
Modern Methods ◽  
Benign Nature ◽  
The Brain ◽  
Methods Of Treatment

Cavernous malformations of the brain have become an increasingly common pathology in recent years, thanks to the advancement of modern methods of neuroimaging. Despite the benign nature of the course in most cases, these formations can cause convulsions and serious neurological disorders. Typically, clinical manifestations are caused by hemorrhages in the structure of the cavernous and surrounding parenchyma of the brain. The management strategy chosen for patients with cerebral cavernous malformations is determined by the type of malformation, its size, localization, the presence of repeated hemorrhages, and the clinical picture. This literature review focuses on modern methods of treating cerebral cavernous malformations. The main methods of treatment for cavernous malformations of the brain, particularly surgical treatment, have been analyzed. If surgical intervention is not possible, alternative methods of treatment include radiation therapy, such as stereotaxic radiosurgery, and proton therapy, in cases of deep location of foci in functionally significant areas of the brain, which are characterized by the highest risk of complications. Thе possibilities, efficacy, and safety of stereotactic radiosurgical treatment are discussed, as well as the use of proton therapy in the treatment of cavernous malformations. Furthermore, radiation therapy has been shown to be beneficial for cavernous malformations.

Molecular Biomarkers and Drug Targets in Brain Arteriovenous and Cavernous Malformations: Where Are We?

Stroke ◽  
2021 ◽  
Author(s):  
Vani Venugopal ◽  
S. Sumi
Keyword(s):  
Noncoding Rna ◽  
Drug Targets ◽  
Vascular Malformations ◽  
Phenotypic Variability ◽  
Abnormal Development ◽  
Neurological Deficits ◽  
Cavernous Malformations ◽  
Technological Advances ◽  
Predictive And Prognostic Biomarker ◽  
The Brain

Vascular malformations of the brain (VMB) comprise abnormal development of blood vessels. A small fraction of VMBs causes hemorrhages with neurological morbidity and risk of mortality in patients. Most often, they are symptomatically silent and are detected at advanced stages of disease progression. The most common forms of VMBs are arteriovenous and cavernous malformations in the brain. Radiopathological features of these diseases are complex with high phenotypic variability. Early detection of these malformations followed by preclusion of severe neurological deficits such as hemorrhage and stroke is crucial in the clinical management of patients with VMBs. The technological advances in high-throughput omics platforms have currently infused a zest in translational research in VMBs. Besides finding novel biomarkers and therapeutic targets, these studies have withal contributed significantly to the understanding of the etiopathogenesis of VMBs. Here we discuss the recent advances in predictive and prognostic biomarker research in sporadic and familial arteriovenous malformations as well as cerebral cavernous malformations. Furthermore, we analyze the clinical applicability of protein and noncoding RNA-based molecular-targeted therapies which may have a potentially key role in disease management.

Hyperperfusion Syndrome: Toward a Stricter Definition

Neurosurgery ◽  
2003 ◽  
Vol 53 (5) ◽  
pp. 1053-1060 ◽  
Author(s):  
◽  
Shelagh B. Coutts ◽  
Michael D. Hill ◽  
William Y. Hu ◽  
Garnette R. Sutherland
Keyword(s):  
Carotid Artery ◽  
Intracerebral Hemorrhage ◽  
Carotid Endarterectomy ◽  
Clinical Presentation ◽  
Imaging Techniques ◽  
Neurological Deficits ◽  
Acute Hemorrhage ◽  
Motor Weakness ◽  
Hyperperfusion Syndrome ◽  
Angioplasty And Stenting

Abstract OBJECTIVE Hyperperfusion syndrome is a rare and potentially devastating complication of carotid endarterectomy or carotid artery angioplasty and stenting. With the advent of new imaging techniques, we reviewed our experience with this phenomenon. METHODS This report is a retrospective review of 129 consecutive cases of carotid endarterectomy performed between June 1, 2000, and May 31, 2002, and 44 consecutive cases of carotid artery angioplasty and stenting performed between January 1, 1997, and May 31, 2002. We specifically searched for examples of patients who developed postprocedural nonthrombotic neurological deficits that typified the hyperperfusion syndrome. RESULTS Seven cases of hyperperfusion syndrome occurred, four after endarterectomy (3.1% of carotid endarterectomy cases) and three after stenting (6.8% of stenting cases). The cases of hyperperfusion were classified as presenting with 1) acute focal edema (two cases with stroke-like presentation, attributable to edema immediately after revascularization), 2) acute hemorrhage (two cases of intracerebral hemorrhage immediately after stenting and one case immediately after endarterectomy), or 3) delayed classic presentation (two cases with seizures, focal motor weakness, and/or late intracerebral hemorrhage at least 24 hours after endarterectomy). CONCLUSION Hyperperfusion syndrome may be more common and more variable in clinical presentation than previously appreciated.

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