Science.gov

Sample records for intracranial vascular malformations

  1. Sudden Death From Ruptured Intracranial Vascular Malformations During Mechanical Asphyxia: A Domestic Violence Case Report.

    PubMed

    Wu, Xue-Mei; Zhang, Xu-Dong; Yun, Li-Bing; Liu, Min; Yi, Xu-Fu

    2017-03-01

    Smothering and manual strangulation are not uncommon in domestic violence against women; however, no report on the combination of mechanical asphyxia and intracranial vascular malformations has been previously published. We report a middle-aged woman who was smothered and manually strangled by her husband and subsequently died from subarachnoid hemorrhage due to ruptured intracranial vascular malformations, rather than direct mechanical asphyxiation. Smothering and manual strangulation are considered provocative conditions for rupture and contributory causes of death. In this case study, we underline the importance of meticulous autopsy in cases of mechanical asphyxia and intracranial hemorrhage. Exclusion of underlying diseases that may have caused or contributed to death is also required, despite serious asphyxiation signs and neck injuries. Postmortem angiography is a valuable complement to autopsy to detect vascular pathology, with good prospects for further development in China.

  2. Clinical results of stereotactic heavy-charged-particle radiosurgery for intracranial angiographically occult vascular malformations

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Phillips, M.H.; Frankel, K.A.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.; Lyman, J.T.

    1989-12-01

    Angiographically occult vascular malformations (AOVMs) of the brain have been recognized for many years to cause neurologic morbidity and mortality. They generally become symptomatic due to intracranial hemorrhage, focal mass effect, seizures or headaches. The true incidence of AOVMs is unknown, but autopsy studies suggest that they are more common than high-flow angiographically demonstrable arteriovenous malformations (AVMs). We have developed stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of inoperable intracranial vascular malformations, using the helium ion beams at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron and Bevatron. This report describes the protocol for patient selection, radiosurgical treatment planning method, clinical and neuroradiologic results and complications encountered, and discusses the strengths and limitations of the method. 10 refs., 1 fig.

  3. Trends in the Management of Intracranial Vascular Malformations in the USA from 2000 to 2007

    PubMed Central

    Choi, Jae H.; Pile-Spellman, John; Brisman, Jonathan

    2012-01-01

    Objective. To assess prevalence, clinical characteristics, trends in treatment pattern, and outcome in patients with intracranial vascular malformations (IVMs). Methods. Nationwide inpatient sample. Patients with the diagnosis of an IVM admitted to US hospitals from 2000 to 2007. Results. In 58,051 IVM-related admissions (detection rate 2.4/100,000 person-years; mean age 49 ± 17 years; 52% women) major diagnoses were intracranial hemorrhage (ICrH) in 15%, seizure 32%, ischemia 5%, and headache 9%. Procedures included surgery (13%), embolization (13%), radiation therapy (2%), aneurysm clipping (1%), and mechanical ventilation (6%). Ventilation and ICrH were associated with death (2%), whereas ventilation, ICrH, surgery, seizure, and ischemia were associated with unfavorable outcome (20%). IVM detection rate and hospital outcome remained stable over time, whereas mean age and comorbid diagnosis of cerebral ischemia increased (ICrH and seizure decreased). Conclusion. IVMs are infrequent and present in 1/6 patients with some form of ICrH. Overall, seizure is the dominant comorbid diagnosis (1/3 patients). IVMs are equally prevalent among race-ethnic groups and are increasingly detected later in life. The inpatient care of IVM patients results in death or discharge into specialized care in 1/5 patients. PMID:22550618

  4. [Multiple intracranial arteriovenous malformation].

    PubMed

    Gelabert-González, Miguel; Santin-Amo, José María; Román-Pena, Paula; Vázquez Herrero, Fernando

    2015-01-01

    Multiple cerebral arteriovenous malformations (AVMs) are thought to be exceedingly rare lesions and have usually been reported as single cases. The incidence of multiple cerebral AVMs in major series ranges from 0.3% to 9% and, in the majority of cases, these malformations are associated with other vascular anomalies of the brain or soft tissues. We report a 62-year-old woman that presented with a left temporal haemorrhage. Angiography showed 3 AVMs located in the left temporal lobe, left cerebellar hemisphere and right temporal lobe. The lesions were treated with radiosurgery.

  5. [Intracranial arteriovenous malformations in Taiwan].

    PubMed

    Lin, L S; Shih, C J

    1993-12-01

    This paper analyzes the available literature on intracranial arteriovenous malformations (AVM) in Taiwan. The incidence and symptoms of the disease are studied with a view to assisting practitioners in its recognition. The incidence of intracranial AVM in patients who have suffered hemorrhagic stroke in Taiwan is 2.5% to 4.8%, with the male to female ratio being 1.5:1. The peak age at which bleeding from intracranial AVM occurred ranged from 10 to 40 years; bleeding showed no seasonal variation. Sudden headaches, vomiting, and disturbance of consciousness were the commonest presenting symptoms of AVM, similar to the rupture of intracranial aneurysms. However, the possibility of focal neurological deficit among patients with intracranial AVM was higher than in patients with intracranial aneurysms. Risk factors, such as hypertension, diabetes mellitus, heart disease, smoking and alcohol intake showed no close relationship to bleeding in intracranial AVM. Pregnancy is not a risk factor in female patients with intracranial AVM with no history of hemorrhage. Small intracranial AVM are more likely to bleed. Since 1961 the majority of Taiwan's intracranial AVM patients have been treated surgically, while before that date general medicine was the treatment of choice. In recent years, several developments such as operation microscope, microsurgical instruments and microsurgical techniques have enhanced the efficacy of surgical intervention in the treatment of AVM. When the mortality and morbidity rates resulting from the two forms of treatment are compared, surgical treatment shows a better prognosis for the treatment of intracranial AVM.

  6. Pelvic Vascular Malformations

    PubMed Central

    Christenson, Brian M.; Gipson, Matthew G.; Smith, Mitchell T.

    2013-01-01

    Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults. Since treatment strategy depends on the type of malformation, correct diagnosis and classification of a vascular lesion are crucial. Slow-flow VMs (venous and lymphatic malformations) are often treated by sclerotherapy, whereas fast-flow lesions (arteriovenous malformations) are generally managed with embolization. In addition, some cases of VMs are best treated surgically. This review will present an overview of VMs in the female pelvis as well as a discussion of endovascular therapeutic techniques. PMID:24436563

  7. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

    PubMed

    Ruggieri, Martino; Milone, Pietro; Pavone, Piero; Falsaperla, Raffaele; Polizzi, Agata; Caltabiano, Rosario; Fichera, Marco; Gabriele, Anna Lia; Distefano, Angela; De Pasquale, Rocco; Salpietro, Vincenzo; Micali, Giuseppe; Pavone, Lorenzo

    2012-11-01

    The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calvé-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients.

  8. CONGENITAL MACROVESSEL ASSOCIATED WITH CYSTOID MACULAR EDEMA AND AN IPSILATERAL INTRACRANIAL VENOUS MALFORMATION

    PubMed Central

    Sanfilippo, Christian J.

    2015-01-01

    Background/Purpose: To report a case of congenital retinal macrovessel associated with cystoid macular edema and an ipsilateral intracranial venous malformation. Methods: Case report. Results: A 58-year-old woman with decreased vision was found to have a congenital retinal venous macrovessel associated with cystoid macular edema because of tributary venous occlusion. The patient underwent neuroimaging and an ipsilateral venous malformation of the frontal lobe was discovered. Conclusion: Congenital retinal macrovessel can occasionally be complicated by vascular occlusion and macular edema. The authors report a case of congenital retinal macrovessel associated with an intracranial venous malformation. Clinicians should be aware of this potential association, and further studies are warranted. PMID:26421894

  9. Genetic causes of vascular malformations.

    PubMed

    Brouillard, Pascal; Vikkula, Miikka

    2007-10-15

    Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes.

  10. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-06

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory.

  11. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  12. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  13. Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.

    1989-12-01

    Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab.

  14. Stereotactic helium-ion radiosurgery for the treatment of intracranial arteriovenous malformations

    SciTech Connect

    Fabrikant, J.I.; Levy, R.P.; Frankel, K.A.; Phillips, M.H.; Lyman, J.T.; Chuang, F.Y.S.; Steinberg, G.K.; Marks, M.P.

    1989-12-01

    One of the more challenging problems of vascular neurosurgery is the management of surgically-inaccessible arteriovenous malformations (AVMs) of the brain. At Lawrence Berkeley Laboratory, we have developed the method of stereotactic heavy-charged-particle (helium-ion) Bragg peak radiosurgery for treatment of inoperable intracranial AVMs in over 300 patients since 1980 (Fabrikant et al. 1989, Fabrikant et al. 1985, Levy et al. 1989). This report describes patient selection, treatment method, clinical and neuroradiologic results and complications encountered. 4 refs.

  15. Management of intracranial aneurysms associated with arteriovenous malformations.

    PubMed

    Flores, Bruno C; Klinger, Daniel R; Rickert, Kim L; Barnett, Samuel L; Welch, Babu G; White, Jonathan A; Batjer, H Hunt; Samson, Duke S

    2014-09-01

    Intracranial or brain arteriovenous malformations (BAVMs) are some of the most interesting and challenging lesions treated by the cerebrovascular neurosurgeon. It is generally believed that the combination of BAVMs and intracranial aneurysms (IAs) is associated with higher hemorrhage rates at presentation and higher rehemorrhage rates and thus with a more aggressive course and natural history. There is wide variation in the literature on the prevalence of BAVM-associated aneurysms (range 2.7%-58%), with 10%-20% being most often cited in the largest case series. The risk of intracranial hemorrhage in patients with unruptured BAVMs and coexisting IAs has been reported to be 7% annually, compared with 2%-4% annually for those with BAVM alone. Several different classification systems have been applied in an attempt to better understand the natural history of this combination of lesions and implications for treatment. Independent of the classification used, it is clear that a few subtypes of aneurysms have a direct hemodynamic correlation with the BAVM itself. This is exemplified by the fact that the presence of a distal flow-related or an intranidal aneurysm appears to be associated with an increased hemorrhage risk, when compared with an aneurysm located on a vessel with no direct supply to the BAVM nidus. Debate still exists regarding the etiology of the association between those two vascular lesions, the subsequent implications for patients' risk of hemorrhagic stroke, and finally the determination of which patients warrant treatment and when. The ultimate goals of the treatment of a BAVM associated with an IA are to prevent hemorrhage, avoid stepwise neurological deterioration, and eliminate the mortality risk associated with recurrent hemorrhagic events. The treatment is only justifiable if the risks associated with an intervention are lower than or equivalent to the long-term risks of disability or mortality caused by the lesion itself. When faced with this

  16. Total knee arthroplasty in vascular malformation

    PubMed Central

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  17. Birt-Hogg-Dubé syndrome and intracranial vascular pathologies.

    PubMed

    Kapoor, Rahul; Evins, Alexander I; Steitieh, Diala; Bernardo, Antonio; Stieg, Philip E

    2015-12-01

    Birt-Hogg-Dubé syndrome, first described in 1977, is a rare autosomal dominant condition that commonly presents with skin lesions, including fibrofolliculomas and trichodiscomas; pulmonary cysts; spontaneous pneumothoraces; and renal cancer. We present the only known cases of intracranial vascular pathologies in patients with Birt-Hogg-Dubé syndrome. We present three cases (three female; age range 18-50) of intracranial vascular lesions in Birt-Hogg-Dubé patients, including two aneurysms and one arteriovenous malformation, and review one previously reported case of carotid aplasia. Due to the rarity of Birt-Hogg-Dubé syndrome and significant variations in its clinical presentation, it is difficult to assess whether or not Birt-Hogg-Dubé patients are predisposed to intracranial vascular pathologies. We hypothesize that increased transcription of hypoxia-inducible factor 1-alpha, resulting from a mutated form of the protein folliculin transcribed by the Birt-Hogg-Dubé gene, may be associated with vascular pathogenesis in Birt-Hogg-Dubé patients and thus provide a possible molecular basis for a link between these two conditions.

  18. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  19. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  20. Hemangiomas and Vascular Malformations: Current Theory and Management

    PubMed Central

    Richter, Gresham T.; Friedman, Adva B.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

  1. Severe Epistaxis from an Intracranial Vascular Bleed from Grenade Injury

    DTIC Science & Technology

    2008-09-01

    Severe Epistaxis from an Intracranial Vascular Bleed from Grenade Injury Radiology Corner Case 27 Severe Epistaxis from an Intracranial ...neck injuries. In particular, this case focuses on an intracranial vascular injury generated by a hand grenade with the diagnosis assisted by...4. TITLE AND SUBTITLE Severe Epistaxis from an Intracranial Vascular Bleed from Grenade Injury 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM

  2. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

    Leblanc, Gabrielle G.; Golanov, Eugene; Awad, Issam A.; Young, William L.

    2009-01-01

    Background and Purpose This review discusses recent research on the genetic, molecular, cellular, and developmental mechanisms underlying the etiology of vascular malformations of the brain (VMBs), including cerebral cavernous malformation (CCM), sporadic brain arteriovenous malformation (AVM), and the AVMs of hereditary hemorrhagic telangiectasia (HHT). Summary of Review The identification of gene mutations and genetic risk factors associated with CCM, HHT, and sporadic AVM has enabled the development of animal models for these diseases and provided new insights into their etiology. All of the genes associated with VMBs to date have known or plausible roles in angiogenesis and vascular remodeling. Recent work suggests that the angiogenic process most severely disrupted by VMB gene mutation is that of vascular stabilization, the process whereby vascular endothelial cells form capillary tubes, strengthen their intercellular junctions, and recruit smooth muscle cells to the vessel wall. In addition, there is now good evidence that in some cases CCM lesion formation involves a genetic two-hit mechanism, in which a germline mutation in one copy of a CCM gene is followed by a somatic mutation in the other copy. There is also increasing evidence that environmental second hits can produce lesions when there is a mutation to a single allele of a VMB gene. Conclusions Recent findings begin to explain how mutations in VMB genes render vessels vulnerable to rupture when challenged with other inauspicious genetic or environmental factors, and have suggested candidate therapeutics. Understanding of the cellular mechanisms of VMB formation and progression in humans has lagged behind that in animal models. New knowledge of lesion biology will spur new translational work. Several well-established clinical and genetic database efforts are already in place, and further progress will be facilitated by collaborative expansion and standardization of these. PMID:19834013

  3. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents – diagnosis, clinic, and therapy

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  4. Intracranial arterial and arteriovenous malformations presenting with infarction. Lausanne Stroke Registry study.

    PubMed

    Herzig, R; Bogousslavsky, J; Maeder, P; Maeder-Ingvar, M; Reichhart, M; Urbano, L A; Leemann, B

    2005-02-01

    Cerebral aneurysms and arteriovenous malformations (AVMs) are well-known sources of intracranial hemorrhage, but can also manifest as other clinical symptoms or remain clinically asymptomatic. The aim was to document and analyze cases of aneurysm or AVM with brain infarction. Survey on 4804 stroke patients treated at the Department of Neurology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland between 1978 and 2000 using the Lausanne Stroke Registry. Twenty patients presented with cerebral aneurysm and 21 with cerebral AVM. Hemorrhage was present in 100% of the AVM and in 75% of the aneurysm patients; in one (5%) of the remaining aneurysm patients, aneurysm and infarction were located in different territories. Infarction associated with Sylvian artery aneurysm was found in three (15%), vertebrobasilar ischemia because of fusiform left vertebral artery aneurysm in one (5%), and dural fistula draining to the distal transversal and left sigmoid sinus associated with a stroke in the territory of the left anterior inferior cerebellar artery in one patient. Ischemic stroke is infrequent, but important, complication in unruptured intracranial aneurysms and AVMs. The early recognition and therapy of these vascular malformations in selected patients can avoid a major neurological deficit or death caused by their rupture.

  5. Vascular permeability in cerebral cavernous malformations.

    PubMed

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy.

  6. Vascular permeability in cerebral cavernous malformations

    PubMed Central

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik BW; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy. PMID:25966944

  7. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  8. Emerging Techniques for Evaluation of the Hemodynamics of Intracranial Vascular Pathology

    PubMed Central

    Huang, Melissa; Chien, Aichi

    2015-01-01

    Advances in imaging modalities have improved the assessment of intracranial hemodynamics using non-invasive techniques. This review examines new imaging modalities and clinical applications of currently available techniques, describes pathophysiology and future directions in hemodynamic analysis of intracranial stenoses, aneurysms and arteriovenous malformations and explores how hemodynamic analysis may have prognostic value in predicting clinical outcomes and assist in risk stratification. The advent of new technologies such as pseudo-continuous arterial spin labeling, accelerated magnetic resonance angiography (MRA) techniques, 4D digital subtraction angiography, and improvements in clinically available techniques such as phase-contrast MRA may change the landscape of vascular imaging and modify current clinical practice guidelines. PMID:25924168

  9. [Application of cyanoacrylate glue and ethylene vinyl alcohol copolymer for the treatment of vascular malformations of the central nervous system].

    PubMed

    Guziński, Maciej; Kurcz, Jacek; Bereza, Sławomir; Garcarek, Jerzy; Sasiadek, Marek

    2010-01-01

    Arterio-venous malformations (AVMs) and dural arterio-venous fistulas (AVFs) are relatively rare developmental vascular system disorders and constitute the majority of vascular malformations of the nervous system. The malformations are characterized by a large variety of vascular architecture. Intracranial or intramedullary hemorrhage constitute the most serious complications of the malformations. The algorithm of management aiming at complete recovery or hemorrhage prevention has not been completely established yet due to considerable individual variability of malformations. The obliteration of malformations pathological vessels using cyanoacrylate glue or ethylene vinyl alcohol copolymer (EVOH)--so called endovascular embolization--has been the most dynamically developing treatment method recently. The procedure, unlike classical surgical resection of pathological vessels, is significantly less invasive and associated with shorter hospitalization period. The features and properties of embolization agents (cyanoacrylate and EVOH) as well as application of the agents for treatment of the vascular pathologies of the central nervous system are discussed in the paper. The procedure of endovascular introduction of embolization agents into the lumen of malformation vessels is also presented in the article. The analyzed literature and own experiences allow to claim that the application of cyanoacrylate and EVOH is a relatively safe therapeutic method that in part of the cases enables complete embolization of pathological vessels. The development of endovascular systems and the advances in embolization agents should trigger further intensive improvement of the technique.

  10. Vascular malformations: an update on imaging and management.

    PubMed

    Sierre, Sergio; Teplisky, Darío; Lipsich, José

    2016-04-01

    Vascular malformations comprise a broad and heterogeneous range of lesions that often represent a diagnostic and therapeutic challenge for the pediatrician. For a long time, the use of an inaccurate nomenclature has led to confusion. Since management depends on the specific vascular malformation, a proper classification and identification is critical. The objective of this article is to provide the necessary information about the current classification and terminology of vascular anomalies, including basic concepts about available imaging diagnostic and therapeutic tools for the management of such complex condition.

  11. Endovascular embolization of life threatening intracranial arterio-venous malformation.

    PubMed

    Khan, S U; Rahman, K M; Siddiqui, M R; Hoque, M A; Mondol, B A; Hussain, S; Mohammad, Q D

    2010-07-01

    Haemorrhagic stroke from cerebral arteriovenous malformations (AVMs) represents 2% of all hemorrhagic strokes. A clear understanding of the diagnostic and treatment algorithms of cerebral AVM management is very important, because AVMs are a cause of hemorrhage in young adults. Surgery, endovascular therapy, and radiosurgery can be used alone or in combination to treat an AVM. We reported a 40 years old man of cerebral arteriovenous malformation (AVM), complicated with intracerebral hemorrhage (ICH). Digital subtraction angiogram was done for diagnosis and endovascular embolization for treatment of the case. This is the first successful cerebral arteriovenous malformations (AVMs) embolization in any government hospital of Bangladesh. The aim of this case report is to inform about this new technologies and emerging treatment strategies in these areas.

  12. The pathobiology of vascular malformations: insights from human and model organism genetics.

    PubMed

    Wetzel-Strong, Sarah E; Detter, Matthew R; Marchuk, Douglas A

    2017-01-01

    Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

  13. Large vascular malformation in a child presenting with vascular steal phenomenon managed with pial synangiosis.

    PubMed

    Ellis, Michael J; Armstrong, Derek; Dirks, Peter B

    2011-01-01

    The management of large and giant arteriovenous malformations (AVMs) in patients presenting with nonhemorrhagic neurological deficits secondary to vascular steal phenomenon is challenging and controversial. In many cases, large AVMs cannot be completely excised or cured, leaving patients with residual or partially treated AVMs, the natural history of which is unknown. Additionally, large, diffuse vascular malformations with multiple, small feeders, slow flow, or so-called cerebral proliferative angiopathy represent a related but distinct clinical and angiographic entity that may require a different therapeutic approach than traditional brain AVMs. The current management of children with other conditions of chronic cerebral hypoperfusion, such as moyamoya disease, involves consideration of surgical revascularization to enhance blood flow to the compromised hemisphere. Here, the authors present the case of a young child with a large thalamic vascular malformation who presented with clinical and radiological features of vascular steal and ischemia. In an effort to augment flow to the hypoperfused brain and protect against future ischemia, the authors treated the child with unilateral pial synangiosis. At 12 months, postoperative angiography demonstrated robust neovascularization, and the child has not sustained any further ischemic events. The authors discuss concept of vascular malformation-related hypoperfusion and the utility of indirect revascularization for inoperable vascular malformations presenting with ischemic symptoms.

  14. Concurrent intracranial and spinal arteriovenous malformations: Report of two pediatric cases and literature review

    PubMed Central

    Shallwani, Hussain; Tahir, Muhammad Z.; Bari, Muhammad E.; Tanveer-ul-Haq

    2012-01-01

    Background: Concurrent intracranial and spinal arteriovenous malformations (AVMs) are very rare with only a few cases being reported in literature. Two of the rare concurrent intracranial and spinal AVM cases are presented. Case Description: Case 1 is a 12-year-old girl with headache and motor disturbances in the lower limbs. Her spinal and brain angiogram was done and she was diagnosed to have a spinal AVM at level T8–T9 and an intracranial AVM in the left mesial temporal lobe. Her spinal AVM was embolized, while no treatment was given for her intracranial AVM. Case 2 is a 10-year-old girl who presented with headache and quadriparesis. Her brain and spinal angiogram revealed an intracranial AVM in the left parietal lobe and a spinal AVM at level C2, respectively. Craniotomy and excision was done for her intracranial AVM and embolization for the spinal AVM. Conclusion: It is proposed that multiple AVMs may be a result of yet unrevealed pathogenesis or strong embryogenetic anomaly, which may be different from that involved in single AVM. With lack of consensus over the best therapeutic strategy, multimodality treatment based on the individual's needs is suggested. PMID:22629488

  15. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

  16. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism

    PubMed Central

    Pang, Chang Hwan; Kim, Chi Heon; Chung, Chun Kee

    2015-01-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

  17. New predictive model for microsurgical outcome of intracranial arteriovenous malformations: study protocol

    PubMed Central

    Tong, Xianzeng; Wu, Jun; Cao, Yong; Zhao, Yuanli; Wang, Shuo

    2017-01-01

    Introduction Although microsurgical resection is currently the first-line treatment modality for arteriovenous malformations (AVMs), microsurgery of these lesions is complicated due to the fact that they are very heterogeneous vascular anomalies. The Spetzler-Martin grading system and the supplementary grading system have demonstrated excellent performances in predicting the risk of AVM surgery. However, there are currently no predictive models based on multimodal MRI techniques. The purpose of this study is to propose a predictive model based on multimodal MRI techniques to assess the microsurgical risk of intracranial AVMs. Methods and analysis The study consists of 2 parts: the first part is to conduct a single-centre retrospective analysis of 201 eligible patients to create a predictive model of AVM surgery based on multimodal functional MRIs (fMRIs); the second part is to validate the efficacy of the predictive model in a prospective multicentre cohort study of 400 eligible patients. Patient characteristics, AVM features and multimodal fMRI data will be collected. The functional status at pretreatment and 6 months after surgery will be analysed using the modified Rankin Scale (mRS) score. The patients in each part of this study will be dichotomised into 2 groups: those with improved or unchanged functional status (a decreased or unchanged mRS 6 months after surgery) and those with worsened functional status (an increased mRS). The first part will determine the risk factors of worsened functional status after surgery and create a predictive model. The second part will validate the predictive model and then a new AVM grading system will be proposed. Ethics and dissemination The study protocol and informed consent form have been reviewed and approved by the Institutional Review Board of Beijing Tiantan Hospital Affiliated to Capital Medical University (KY2016-031-01). The results of this study will be disseminated through printed media. Trial registration

  18. Vascular structure and binomial statistics for response modeling in radiosurgery of cerebral arteriovenous malformations

    NASA Astrophysics Data System (ADS)

    Andisheh, Bahram; Bitaraf, Mohammad A.; Mavroidis, Panayiotis; Brahme, Anders; Lind, Bengt K.

    2010-04-01

    Radiation treatment of arteriovenous malformations (AVMs) has a slow and progressive vaso-occlusive effect. Some studies suggested the possible role of vascular structure in this process. A detailed biomathematical model has been used, where the morphological, biophysical and hemodynamic characteristics of intracranial AVM vessels are faithfully reproduced. The effect of radiation on plexiform and fistulous AVM nidus vessels was simulated using this theoretical model. The similarities between vascular and electrical networks were used to construct this biomathematical AVM model and provide an accurate rendering of transnidal and intranidal hemodynamics. The response of different vessels to radiation and their obliteration probability as a function of different angiostructures were simulated and total obliteration was defined as the probability of obliteration of all possible vascular pathways. The dose response of the whole AVM is observed to depend on the vascular structure of the intra-nidus AVM. Furthermore, a plexiform AVM appears to be more prone to obliteration compared with an AVM of the same size but having more arteriovenous fistulas. Finally, a binomial model was introduced, which considers the number of crucial vessels and is able to predict the dose response behavior of AVMs with a complex vascular structure.

  19. [Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria].

    PubMed

    Abbo, O; Bouali, O; Galinier, P; Moscovici, J

    2012-02-01

    Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. Due to mosaic pattern of distribution, the phenotypes are variable and diverse. Vascular malformations are part of the major criteria used to define and diagnose this syndrome. It can involve the gastrointestinal tract, spleen, or the urinary tract but bladder malformations are rare. We report here a case of bladder vascular malformation in a 12-year-old boy known to have Proteus syndrome and review the literature on bladder malformations or tumors in this syndrome.

  20. Nontraumatic intracranial hemorrhage.

    PubMed

    Fischbein, Nancy J; Wijman, Christine A C

    2010-11-01

    Nontraumatic (or spontaneous) intracranial hemorrhage most commonly involves the brain parenchyma and subarachnoid space. This entity accounts for at least 10% of strokes and is a leading cause of death and disability in adults. Important causes of spontaneous intracranial hemorrhage include hypertension, cerebral amyloid angiopathy, aneurysms, vascular malformations, and hemorrhagic infarcts (both venous and arterial). Imaging findings in common and less common causes of spontaneous intracranial hemorrhage are reviewed.

  1. Evidence of redistribution of cerebral blood flow during treatment for an intracranial arteriovenous malformation

    SciTech Connect

    Batjer, H.H.; Purdy, P.D.; Giller, C.A.; Samson, D.S. )

    1989-10-01

    The presence of an intracranial arteriovenous malformation has a dramatic impact on local circulatory dynamics. Treatment of some arteriovenous malformations can result in disastrous hyperemic states caused by redistribution of previously shunted blood. This report describes serial hemodynamic measurements of both cerebral blood flow and flow velocity in 3 patients during treatment for arteriovenous malformations. Measurements of cerebral blood flow were made by computed tomographic scan employing the stable xenon inhalation technique; flow velocity, including autoregulatory characteristics, was measured by transcranial Doppler ultrasonogram. Substantial hyperemia developed in one patient (Case 1) after resection and in another (Case 3) after embolization. Embolization resulted in restoration of normal regional cerebral blood flow in a patient who demonstrated hypoperfusion before treatment (Case 2). In Patient 1, postoperative hyperemia was associated with persistently elevated flow velocities, and may have been accompanied by hemispheric neurological deficits. Sequential hemodynamic measurements may predict patients at risk of perioperative complications, and may become useful clinical guidelines for the extent and timing of embolization and for the timing of surgery after intracranial hemorrhage or preoperative embolization procedures.

  2. [Extracranial vascular anomalies (hemangiomas and vascular malformations) in children and adolescents--diagnosis, clinic, and therapy].

    PubMed

    Eivazi, B; Werner, J A

    2014-03-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be

  3. Treatment of vascular malformation of the gastrointestinal tract

    NASA Astrophysics Data System (ADS)

    Waldschmidt, Juergen; Stroedter, L.; Doede, T.; Kischkel, A.

    2000-06-01

    Vascular malformations of the gastrointestinal tract are rare phenomenon. They are generally manifested by upper or lower GI - bleeding and do not resolve spontaneously. Emergency intervention is necessary. This paper reports on 10 cases, treated in the Dept. of Pediatric surgery of the FU Berlin, recorded from 1981 to 1999. We use the Nd:YAG laser 1064 nm, Fibertom 5100, Dornier, Germany, with a 600nm barefiber. Reduction in size of the hemangiomas and stop of the GI-bleeding was achieved in all cases.

  4. Advances in non-invasive imaging of intracranial vascular disease.

    PubMed Central

    Jäger, H. R.; Grieve, J. P.

    2000-01-01

    Intra-arterial catheter angiography has, in the past, been the mainstay for the investigation of intracranial vascular disease. It is, however, invasive, usually requires in-patients admission, and is associated with a rate of neurological complications between 1% and 3%. In recent years, magnetic resonance angiography (MRA) and CT angiography (CTA) have emerged as non-invasive alternatives for imaging blood vessels and have made a significant impact on neuroradiological investigations. It is the purpose of this article to explain the basic technical principles of these two methods and to give an overview of their current clinical applications. PMID:10700757

  5. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 1: Brainstem arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Chen, Ching-Jen; Sheehan, Jason P

    2016-02-01

    The management of brainstem arteriovenous malformations (AVM) are one of the greatest challenges encountered by neurosurgeons. Brainstem AVM have a higher risk of hemorrhage compared to AVM in other locations, and rupture of these lesions commonly results in devastating neurological morbidity and mortality. The potential morbidity associated with currently available treatment modalities further compounds the complexity of decision making for affected patients. Stereotactic radiosurgery (SRS) has an important role in the management of brainstem AVM. SRS offers acceptable obliteration rates with lower risks of hemorrhage occurring during the latency period. Complex nidal architecture requires a multi-disciplinary treatment approach. Nidi partly involving subpial/epipial regions of the dorsal midbrain or cerebellopontine angle should be considered for a combination of endovascular embolization, micro-surgical resection and SRS. Considering the fact that incompletely obliterated lesions (even when reduced in size) could still cause lethal hemorrhages, additional treatment, including repeat SRS and surgical resection should be considered when complete obliteration is not achieved by first SRS. Patients with brainstem AVM require continued clinical and radiological observation and follow-up after SRS, well after angiographic obliteration has been confirmed.

  6. Emerging role of contrast-enhanced MRI in diagnosing vascular malformations.

    PubMed

    Turley, Ryan S; Lidsky, Michael E; Markovic, Jovan N; Shortell, Cynthia K

    2014-07-01

    Vascular malformations comprise a diverse and rare group of lesions which generally pose a formidable treatment challenge. Requisite for optimal surgical planning are imaging modalities capable of delineating involved anatomy and malformation flow characteristics. In this regard, we and others have purported the advantages of contrast-enhanced MRI. Here, we review the current body of literature regarding the emerging of role of contrast enhanced MRI for the management of vascular malformations.

  7. Association Between Venous Angioarchitectural Features of Sporadic Brain Arteriovenous Malformations and Intracranial Hemorrhage

    PubMed Central

    Alexander, Matthew D.; Cooke, Daniel L.; Nelson, Jeffrey; Guo, Diana E.; Dowd, Christopher F.; Higashida, Randall T.; Halbach, Van V.; Lawton, Michael T.; Kim, Helen; Hetts, Steven W.

    2015-01-01

    Background and Purpose Intracranial hemorrhage is the most serious outcome for brain arteriovenous malformations (AVM). This study examines associations between venous characteristics of these lesions and intracranial hemorrhage. Materials and Methods Statistical analysis was performed on a prospectively maintained database of brain AVMs evaluated at an academic medical center. DSA, CT, and MRI studies were evaluated to classify lesion side, drainage pattern, venous stenosis, number of draining veins, venous ectasia, and venous reflux. Logistic regression analyses were performed to identify association of these angiographic features with intracranial hemorrhage of any age at initial presentation. Results Exclusively deep drainage (OR 3.42, 95% CI 1.87–6.26, p<0.001) and a single draining vein (OR 1.98, 95% CI 1.26–3.08, p=0.002) were associated with hemorrhage, whereas venous ectasia (OR 0.52, 95% CI 0.34–0.78, p=0.002) was inversely associated with hemorrhage. Conclusion Analysis of venous characteristics of brain AVMs may help determine their prognosis and thereby identify lesions most appropriate for treatment. PMID:25634722

  8. Radionuclide-labeled red blood cell imaging of vascular malformations in children

    SciTech Connect

    Sloan, G.M.; Bolton, L.L.; Miller, J.H.; Reinisch, J.F.; Nichter, L.S.

    1988-09-01

    Vascular malformations, particularly in the absence of cutaneous changes, can be difficult to distinguish from other soft tissue masses in children. We have used technetium-99m-labeled red blood cell scintigraphy to study 47 lesions in 43 children. Thirty-nine lesions showed increased flow and were, therefore, diagnosed as vascular malformations. Subsequent biopsy of 10 of these lesions confirmed that diagnosis. The other 29 lesions with increased flow were followed for 10 months to 5 years and the clinical course was consistent with vascular malformation in every case. Eight lesions showed no increased flow on technetium scan. One of these subsequently proved to be a hemangioma. The others have turned out not to be vascular malformations. Therefore, in our experience, the technetium-99m-labeled red blood cell scan has had 98% sensitivity and 100% specificity in diagnosing vascular malformations in children.

  9. A Vascular Malformation Presenting as a Peripheral Nerve Sheath Tumor

    PubMed Central

    Parmar, Vikas; Haldeman, Clayton; Amaefuna, Steve; Hanna, Amgad S.

    2016-01-01

    We present the case of a venous malformation (VM) masquerading as a schwannoma. VMs are thin-walled vascular dilations of various sizes that typically present as soft, compressible, blue masses that are associated with pain or dysesthesia. VMs are commonly found in the head and neck as well as the distal extremities. Notably, slow-flow VMs are hypointense on T1-weighted imaging, hyperintense on T2-weighted imaging, and enhance markedly with contrast. However, VMs tend to be poorly circumscribed and fraught with venous lakes and phleboliths. Conservative therapy and sclerotherapy are the primary treatment options. In this case report, we present a VM presenting near the neurovascular bundle of the upper extremity axilla. Our case is unique in that the patient presented with symptoms and imaging qualities characteristic for a peripheral nerve schwannoma. PMID:28077959

  10. Cerebral Cavernous Malformations: Somatic Mutations in Vascular Endothelial Cells

    PubMed Central

    Gault, Judith; Awad, Issam A.; Recksiek, Peter; Shenkar, Robert; Breeze, Robert; Handler, Michael; Kleinschmidt-DeMasters, Bette Kay

    2009-01-01

    OBJECTIVE Germline mutations in three genes have been found in familial cases of cerebral cavernous malformations (CCM). We previously discovered somatic and germline truncating mutations in the KRIT1 gene supporting the “two-hit” mechanism of CCM lesion formation in a single lesion. The purpose of this study was to screen for somatic, nonheritable, mutations in three more lesions from different patients and identify the cell type(s) in which somatic mutations occur. METHODS Somatic mutations were sought in DNA from three surgically excised, fresh-frozen CCM lesions by cloning and screening PCR products generated from KRIT1 or PDCD10 coding regions. Laser capture microdissection (LCM) was used to isolated endothelial and nonendothelial cells in order to determine if somatic mutations were found in endothelial cells. RESULTS A CCM lesion harbored somatic and germline KRIT1 mutations on different chromosomes and are therefore biallelic. Both mutations are predicted to truncate the protein. The KRIT1 somatic mutations (novel c.1800delG mutation and previously identified 34 nucleotide deletion) in CCMs from two different patients were only found in the vascular endothelial cells lining caverns. No obvious somatic mutations were identified in the two other lesions; however, the results were inconclusive possibly due to the technical limitations or the fact that these specimens had a small proportion of vascular endothelial cells lining pristine caverns. CONCLUSION The “two-hit” mechanism occurs in vascular endothelial cells lining CCM caverns from two patients with somatic and Hispanic-American KRIT1 germline mutations. Methods for somatic mutation detection should focus on vascular endothelial cells lining pristine caverns. PMID:19574835

  11. Congenital vascular malformation associated with multiple cranial, vertebral and upper limb skeletal abnormalities.

    PubMed

    Marsden, N; Shokrollahi, K; Maw, K; Sierakowski, A; Bhat, F A; Mathur, B

    2010-07-01

    The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel-Trenaunay, Parkes-Weber and Servelle-Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb, and discuss the literature.

  12. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

    SciTech Connect

    McCafferty, Ian

    2015-10-15

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

  13. [Screening for systemic manifestations of vascular malformations in patients with hereditary haemorrhagic telangiectasia (Osler disease)].

    PubMed

    Cerra Pohl, Ana; Werner, Jochen Alfred; Folz, Benedikt Josef

    2008-11-01

    Hereditary haemorrhagic telangiectasia (Rendu-Osler- Weber syndrome) is a disease characterized by systemic vascular malformations. Typical clinical manifestations are recurrent epistaxis and telangiectases of the skin and the mucous membranes. The syndrome is furthermore characterized by its hereditary aspect. The disease seems to be much more complicated than previously thought, mainly because of the accompanying vascular malformations in vital organs, like the liver, the kidney, the lung, the brain, and the eyes. The diagnosis and treatment of systemic vascular malformations requires interdisciplinary management.

  14. Laser therapy and sclerotherapy in the treatment of oral and maxillofacial hemangioma and vascular malformations

    NASA Astrophysics Data System (ADS)

    Crişan, Bogdan; BǎciuÅ£, Mihaela; BǎciuÅ£, Grigore; Crişan, Liana; Bran, Simion; Rotar, Horatiu; Moldovan, Iuliu; Vǎcǎraş, Sergiu; Mitre, Ileana; Barbur, Ioan; Magdaş, Andreea; Dinu, Cristian

    2016-03-01

    Hemangioma and vascular malformations in the field of oral and maxillofacial surgery is a pathology more often found in recent years in patients. The aim of this study was to evaluate the efficacy of the laser photocoagulation performed with a diode laser (Ga-Al-As) 980 nm wavelength in the treatment of vascular lesions which are located on the oral and maxillofacial areas, using color Doppler ultrasonography for evaluation of the results. We also made a comparison between laser therapy and sclerotherapy in order to establish treatment protocols and recommendations associated with this pathology. We conducted a controlled study on a group of 92 patients (38 male and 54 female patients, with an average age of 36 years) having low flow hemangioma and vascular malformations. Patients in this trial received one of the methods of treatment for vascular lesions such as hemangioma and vascular malformations: laser therapy or sclerotherapy. After laser therapy we have achieved a reduction in size of hemangioma and vascular malformations treated with such a procedure, and the aesthetic results were favorable. No reperfusion or recanalization of laser treated vascular lesions was observed after an average follow-up of 6 to 12 months. In case of sclerotherapy a reduction in the size of vascular lesions was also obtained. The 980 nm diode laser has been proved to be an effective tool in the treatment of hemangioma and vascular malformations in oral and maxillofacial area. Laser therapy in the treatment of vascular lesions was more effective than the sclerotherapy procedure.

  15. Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex

    PubMed Central

    Fisher, Oriana S.; Deng, Hanqiang; Liu, Dou; Zhang, Ya; Wei, Rong; Deng, Yong; Zhang, Fan; Louvi, Angeliki; Turk, Benjamin E.; Boggon, Titus J.; Su, Bing

    2015-01-01

    Cerebral cavernous malformations 2 (CCM2) loss is associated with the familial form of CCM disease. The protein kinase MEKK3 (MAP3K3) is essential for embryonic angiogenesis in mice and interacts physically with CCM2, but how this interaction is mediated and its relevance to cerebral vasculature are unknown. Here we report that Mekk3 plays an intrinsic role in embryonic vascular development. Inducible endothelial Mekk3 knockout in neonatal mice is lethal due to multiple intracranial haemorrhages and brain blood vessels leakage. We discover direct interaction between CCM2 harmonin homology domain (HHD) and the N terminus of MEKK3, and determine a 2.35 Å cocrystal structure. We find Mekk3 deficiency impairs neurovascular integrity, which is partially dependent on Rho–ROCK signalling, and that disruption of MEKK3:CCM2 interaction leads to similar neurovascular leakage. We conclude that CCM2:MEKK3-mediated regulation of Rho signalling is required for maintenance of neurovascular integrity, unravelling a mechanism by which CCM2 loss leads to disease. PMID:26235885

  16. Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex

    SciTech Connect

    Fisher, Oriana S.; Deng, Hanqiang; Liu, Dou; Zhang, Ya; Wei, Rong; Deng, Yong; Zhang, Fan; Louvi, Angeliki; Turk, Benjamin E.; Boggon, Titus J.; Su, Bing

    2015-08-03

    Cerebral cavernous malformations 2 (CCM2) loss is associated with the familial form of CCM disease. The protein kinase MEKK3 (MAP3K3) is essential for embryonic angiogenesis in mice and interacts physically with CCM2, but how this interaction is mediated and its relevance to cerebral vasculature are unknown. Here we report that Mekk3 plays an intrinsic role in embryonic vascular development. Inducible endothelial Mekk3 knockout in neonatal mice is lethal due to multiple intracranial haemorrhages and brain blood vessels leakage. We discover direct interaction between CCM2 harmonin homology domain (HHD) and the N terminus of MEKK3, and determine a 2.35 Å cocrystal structure. We find Mekk3 deficiency impairs neurovascular integrity, which is partially dependent on Rho–ROCK signalling, and that disruption of MEKK3:CCM2 interaction leads to similar neurovascular leakage. We conclude that CCM2:MEKK3-mediated regulation of Rho signalling is required for maintenance of neurovascular integrity, unravelling a mechanism by which CCM2 loss leads to disease.

  17. Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions.

  18. Microsurgery for intracranial arteriovenous malformation: Long-term outcomes in 445 patients

    PubMed Central

    Zeng, Yunhui; Liu, Zhiyong; Liu, Hao; Xu, Jianguo

    2017-01-01

    Background The management of intracranial arteriovenous malformations(AVMs) poses challenges to the cerebrovascular specialists. Objective To review the long-term outcomes of intracranial AVMs treated with microsurgical resections. Methods We performed a retrospective review of 445 patients with intracranial AVMs treated in our hospital from January 1st, 2008 to December 31st, 2014. The extracted data included demographic characteristics, clinical presentations, Spetzler-Martin (SM) grades, Supplemented Spetzler-Martin (SM-Supp) Grades, treatment modalities, long-term outcomes, and obliteration rates. Outcome was assessed with a post-operative modified Rankin Scale (mRS) score at the last follow-up visit. Results Of the 445 patients treated with microsurgery, 298 (67.0%) patients initially presented with hemorrhage. Based on the SM grading system, the patients were graded as follows: 83(18.6%) Grade I, 156(35.1%) Grade II, 132(29.7%) Grade III, 61(13.7%) Grade IV and 13(2.9%) Grade V. Overall, 344(77.3%) patients had a favorable outcome (mRS score of 0–2). The favorable outcome for Grade I and II were 92.8% and 85.9%, respectively, sharply reducing to 52.5% in patients with Grade IV and 15.4% in patients with Grade V AVMs. 388(87.2%) patients achieved complete obliteration of the AVMs. 63(14.2%) patients experienced recurrent hemorrhage, and the frequency of rehemorrhage was highest in Grade V patients (77.0%), dropping to 3.6% and 3.8% in patients with Grade I and II lesions, respectively. Permanent neurological deficits occurred in 66(14.8%) patients and death in 35(7.9%) patients. There was no difference of AUROC values between SM grading system and SM-supp grading system (0.726 and 0.734, respectively, p = .715). Conclusion The Spetzler-Martin grading system is a simple and effective method to estimate the risk of surgery and to evaluate the prognosis. Microsurgical resection for AVMs depends on the SM grades, and the morbidity-mortality rate increases with

  19. Bleeding recurrence in patients with gastrointestinal vascular malformation after thalidomide.

    PubMed

    Chen, Haiying; Fu, Sengwang; Feng, Nan; Chen, Huimin; Gao, Yunjie; Zhao, Yunjia; Xue, Hanbing; Zhang, Yao; Li, Xiaobo; Dai, Jun; Fang, Jingyuan; Ge, Zhizheng

    2016-08-01

    Thalidomide may be used for the treatment of gastrointestinal vascular malformation (GIVM), but the long-term response and adverse effects are unknown. Aim to study the recurrence rate of GIVM bleeding after thalidomide treatment, the response to treatment, and the adverse effects.This was a retrospective study of 80 patients with GIVM treated with thalidomide between November 2003 and November 2013. Patients received a course of 100 mg/day of thalidomide for 4 months and were followed up for at least 1 year. The response rate during follow-up, the recurrence rate after the 1st course of treatment, and the rate of retreatment were assessed. Comorbidities, the need for blood transfusion, yearly bleeding episodes, hemoglobin levels, hospitalization after thalidomide treatment, and the rate of adverse effects were also examined.The overall response rate during follow-up was 79.5% (62/78). The recurrence rate was 21.0% after the 1st course of thalidomide. The response rate of retreatment was 100%. After thalidomide treatment, yearly blood transfusion amounts, yearly bleeding episodes, and yearly hospitalization numbers were significantly decreased, while hemoglobin levels were significantly increased (P < 0.001). Adverse effects were observed in 60.0% (48/80) of the patients. Serious adverse effects were reported in 31.3% (25/80). The overall response rate was 76.7% (23/30) in 30 patients with comorbidities, while the rate was 78.0% (39/50) in patients without comorbidities (P = 0.55). The rate of serious adverse effects was similar between the comorbidities (33.3%) and no-comorbidities groups (30.0%) (P = 0.76).Thalidomide showed a good response rate and low adverse effect rate in patients with recurrent gastrointestinal bleeding due to GIVM.

  20. Delayed expansion of an intracranial cyst induced by ventriculoperitoneal shunt in a patient with Chiari malformation type 2.

    PubMed

    Maki, Yoshinori; Ohta, Tsuyoshi; Onishi, Hirokazu; Fukui, Naoki; Morimoto, Masanori

    2017-02-11

    A male neonate was referred to our hospital for the treatment of myelomeningocele and hydrocephalus related to Chiari malformation type 2. After the placement of ventriculoperitoneal (VP) shunt for hydrocephalus, an intracranial cyst, which was asymptomatic at first, expanded and caused clinical symptoms due to increased intracranial pressure. The expansion of the cyst was confirmed dominantly in the right lateral ventricle where the VP shunt was inserted. Intraoperative findings through a neuroendoscope suggested that the expanded cyst was an isolated lesion. The pressure reduction in the lateral ventricle through the shunt tube, not the malfunction of the VP shunt, might have attributed to increased intracranial pressure with the expanded cyst. The authors present this rare case, speculating the cause of the expansion of the cyst.

  1. Role of stereotactic radiosurgery with a linear accelerator in treatment of intracranial arteriovenous malformations and tumors in children.

    PubMed

    Loeffler, J S; Rossitch, E; Siddon, R; Moore, M R; Rockoff, M A; Alexander, E

    1990-05-01

    Between 1986 and 1988, 16 children were treated for 10 arteriovenous malformations and 6 recurrent intracranial tumors with stereotactic radiation therapy using a modified Clinac 6/100 linear accelerator. The median age of our patients was 10.5 years. For the group with arteriovenous malformation, follow-up ranged from 6 months to 37 months (median was 20 months). No patient bled during the follow-up period. Five of eight patients with follow-up longer than 12 months have achieved complete obliteration of their arteriovenous malformation by angiogram. The four remaining patients who have not achieved a complete obliteration are awaiting their 2-year posttreatment angiogram. The other patient has been treated within the year and have not yet been studied. Five of the six recurrent tumor patients are alive with a median follow-up of 8 months. The remaining patient was controlled locally, but he died of recurrent disease outside the area treated with radiosurgery. The radiographic responses of these patients have included three complete responses, two substantial reductions in tumor volume (greater than 50%) and one stabilization. Despite previous radiotherapy, there have been no significant complications in these patients. We conclude that stereotactic radiation therapy using a standard linear accelerator is an effective and safe technique in the treatment of selected intracranial arteriovenous malformations and tumors in children. In addition, stereotactic radiosurgery may have unique applications in the treatment of localized primary and recurrent pediatric brain tumors.

  2. EPH Receptor B4 (EPHB4) Gene Polymorphisms and Risk of Intracranial Hemorrhage in Patients with Brain Arteriovenous Malformations

    PubMed Central

    Weinsheimer, Shantel; Kim, Helen; Pawlikowska, Ludmila; Chen, Yongmei; Lawton, Michael T.; Sidney, Stephen; Kwok, Pui-Yan; McCulloch, Charles E.; Young, William L.

    2009-01-01

    Background Brain arteriovenous malformations (BAVM) are a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation and an important cause of intracranial hemorrhage (ICH). EphB4 is involved in arterial-venous determination during embryogenesis; altered signaling could lead to vascular instability resulting in ICH. We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes in EPHB4 with risk of ICH at clinical presentation in BAVM patients. Methods and Results Eight haplotype-tagging SNPs spanning ∼29 kb were tested for association with ICH presentation in 146 Caucasian BAVM patients (phase I: 56 ICH, 90 non-ICH) using allelic, haplotypic, and principal components analysis. Associated SNPs were then genotyped in 102 additional cases (phase II: 37 ICH, 65 non-ICH) and data combined for multivariable logistic regression. Minor alleles of 2 SNPs were associated with reduced risk of ICH presentation (rs314313 C, P=0.005; rs314308 T, P=0.0004). Overall, haplotypes were also significantly associated with ICH presentation (χ2=17.24, 6 df, P=0.008); 2 haplotypes containing the rs314308 T allele (GCCTGGGT, P=0.003; GTCTGGGC, P=0.036) were associated with reduced risk. In principal components analysis, 2 components explained 91% of the variance, and complemented haplotype results by implicating 4 SNPs at the 5′ end, including rs314308 and rs314313. These 2 SNPs were replicated in the phase II cohort, and combined data resulted in greater significance (rs314313, P=0.0007; rs314308, P=0.00008). SNP association with ICH presentation persisted after adjusting for age, sex, BAVM size, and deep venous drainage. Conclusions EPHB4 polymorphisms are associated with risk of ICH presentation in BAVM patients, warranting further study. PMID:20031623

  3. Multispectral imaging of pigmented and vascular cutaneous malformations: the influence of laser treatment

    NASA Astrophysics Data System (ADS)

    Kuzmina, Ilona; Diebele, Ilze; Asare, Lasma; Kempele, Anna; Abelite, Anita; Jakovels, Dainis; Spigulis, Janis

    2010-11-01

    The paper investigates influence and efficacy of laser therapy on pigmented and vascular cutaneous malformations by multispectral imaging technique. Parameter mapping of skin pigmented and vascular lesions and monitoring of the laser therapy efficacy are performed by multispectral imaging in wavelength range 450-700nm by scanning step - 10nm. Parameter maps of the oxyhemoglobin deoxyhemoglobin and melanin derived from the images are presented. Possibility of laser therapy efficacy monitoring by comparison of the parameter maps before and after laser treatment has been demonstrated. As both cutaneous pigmented and vascular malformations are commonly found lesions, the parameter mapping would be a valuable method to use routinely.

  4. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  5. A Multicenter Retrospective Study of Frameless Robotic Radiosurgery for Intracranial Arteriovenous Malformation

    PubMed Central

    Oermann, Eric K.; Murthy, Nikhil; Chen, Viola; Baimeedi, Advaith; Sasaki-Adams, Deanna; McGrail, Kevin; Collins, Sean P.; Ewend, Matthew G.; Collins, Brian T.

    2014-01-01

    Introduction: CT-guided, frameless radiosurgery is an alternative treatment to traditional catheter-angiography targeted, frame-based methods for intracranial arteriovenous malformations (AVMs). Despite the widespread use of frameless radiosurgery for treating intracranial tumors, its use for treating AVM is not-well described. Methods: Patients who completed a course of single fraction radiosurgery at The University of North Carolina or Georgetown University between 4/1/2005–4/1/2011 with single fraction radiosurgery and received at least one follow-up imaging study were included. All patients received pre-treatment planning with CTA ± MRA and were treated on the CyberKnife (Accuray) radiosurgery system. Patients were evaluated for changes in clinical symptoms and radiographic changes evaluated with MRI/MRA and catheter-angiography. Results: Twenty-six patients, 15 male and 11 female, were included in the present study at a median age of 41 years old. The Spetzler-Martin grades of the AVMs included seven Grade I, 12 Grade II, six Grade III, and one Grade IV with 14 (54%) of the patients having a pre-treatment hemorrhage. Median AVM nidal volume was 1.62 cm3 (0.57–8.26 cm3) and was treated with a median dose of 1900 cGy to the 80% isodose line. At median follow-up of 25 months, 15 patients had a complete closure of their AVM, 6 patients had a partial closure, and 5 patients were stable. Time since treatment was a significant predictor of response, with patients experience complete closure having on average 11 months more follow-up than patients with partial or no closure (p = 0.03). One patient experienced a post-treatment hemorrhage at 22 months. Conclusion: Frameless radiosurgery can be targeted with non-invasive MRI/MRA and CTA imaging. Despite the difficulty of treating AVM without catheter angiography, early results with frameless, CT-guided radiosurgery suggest that it can achieve similar results to frame-based methods at these time

  6. Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

    SciTech Connect

    Chiramel, George Koshy Keshava, Shyamkumar Nidugala Moses, Vinu Mammen, Suraj; David, Sarada; Sen, Sudipta

    2015-04-15

    PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

  7. The Efficiency of Sclerotherapy in the Treatment of Vascular Malformations: A Retrospective Study of 63 Patients

    PubMed Central

    Rautio, Riitta; Giordano, Salvatore; Koskivuo, Ilkka; Savolainen, Otto

    2016-01-01

    Background and Aims. Vascular malformations are a vast group of congenital malformations that are present at birth. These malformations can cause pain, pressure, and cosmetic annoyance as well as downturn growth and development in a child in the case of high flow. Sclerotherapy has become an important tool in the treatment of vascular malformations. However, little is known about the success rate of sclerotherapy. Material and Methods. In this study, the efficiency of sclerotherapy in the treatment of vascular anomalies was investigated retrospectively in 63 patients treated in Turku University Hospital between 2003 and 2013. Results. Out of the 63 patients investigated, 83% (53) had venous malformations (VMs) and 9% (5) were defined as having arteriovenous malformations (AVMs). Patients with a VM were operated on, in 14% (8) out of all VM cases. Hence 86% (45) of patients with a VM received adequate help to their symptoms solely from sclerotherapy. The duration of treatment for the 14% of the VM patients that needed a surgical procedure was prolonged by 7–9 months, that is, by 41%. Conclusions. Sclerotherapy is an effective method in the treatment of VMs with a satisfactory clinical response in patients symptoms in 84% of cases. PMID:28074157

  8. Foot drop after ethanol embolization of calf vascular malformation: a lesson on nerve injury.

    PubMed

    Tay, Vincent Khwee-Soon; Mohan, P Chandra; Liew, Wendy Kein Meng; Mahadev, Arjandas; Tay, Kiang Hiong

    2013-08-01

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.

  9. Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

    SciTech Connect

    Tay, Vincent Khwee-Soon; Mohan, P. Chandra; Liew, Wendy Kein Meng; Mahadev, Arjandas; Tay, Kiang Hiong

    2013-08-01

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.

  10. Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution.

    PubMed

    Yadla, Sanjay; Jabbour, Pascal M; Shenkar, Robert; Shi, Changbin; Campbell, Peter G; Awad, Issam A

    2010-09-01

    Tremendous insight into the molecular and genetic pathogenesis of cerebral cavernous malformations (CCMs) has been gained over the past 2 decades. This includes the identification of 3 distinct genes involved in familial CCMs. Still, a number of unanswered questions regarding the process from gene mutation to vascular malformation remain. It is becoming more evident that the disruption of interendothelial junctions and ensuing vascular hyperpermeability play a principal role. The purpose of this review is to summarize the current understanding of CCM genes, associated proteins, and functional pathways. Promising molecular and genetic therapies targeted at identified molecular aberrations are discussed as well.

  11. A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child

    PubMed Central

    Lee, Yeoun Joo; Hwang, Jae-Yeon; Cho, Yong Hoon; Kim, Yong-Woo; Kim, Tae Un; Shin, Dong Hoon

    2016-01-01

    Gastrointestinal (GI) bleeding in pediatric patients has several causes. Vascular malformation of the small bowel is a rare disease leading to pediatric GI bleeding. To our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. We present a case of long-segmental and circumferential vascular malformation that led to GI bleeding in a pre-school aged child, focusing on the radiologic findings. Although vascular malformation including of the GI tract is rare in children, it should be considered when GI bleeding occurs in pediatric patients. PMID:27110342

  12. Chronic daily headache in the adults: differential diagnosis between symptomatic Chiari I malformation and spontaneous intracranial hypotension.

    PubMed

    Mea, Eliana; Chiapparini, Luisa; Leone, Massimo; Franzini, Angelo; Messina, Giuseppe; Bussone, Gennaro

    2011-12-01

    This article briefly reviews the spectrum of headaches associated with Chiari type I malformation (CMI) and specifically analyzes the current data on the possibility of this malformation as an etiology for some cases of chronic daily headache (CDH). CMI is definitely associated with cough headache and not with primary episodic headaches, with the rare exception of basilar migraine-like cases. With regard to CDH, there is no clear evidence supporting an association with CMI. A magnetic resonance imaging (MRI) study would be justified only in patients showing either a Valsalva-aggravating component or cervicogenic features. Hydrocephalus and low-intracranial pressure syndrome should be ruled out in patients showing tonsillar herniation in an MRI study and consulting due to daily headache.

  13. beta-amyloid protein of Alzheimer's disease is found in cerebral and spinal cord vascular malformations.

    PubMed Central

    Hart, M. N.; Merz, P.; Bennett-Gray, J.; Menezes, A. H.; Goeken, J. A.; Schelper, R. L.; Wisniewski, H. M.

    1988-01-01

    Congo/Red deposition with birefringence to polarized light was demonstrated focally in cerebrovascular malformations removed surgically from 4 older patients (ages 85, 74, 74, and 63), and in a spinal cord vascular malformation in a 76-year-old patient. Lesser degrees of Congophilic change were observed in cerebrovascular malformations screened from 4 of 10 patients between the ages of 30 and 59. No Congophilic change was seen in 10 cerebrovascular malformations removed from patients under 30 years of age. Congophilic areas in all cases decorated with W-2 and 85/45 polyclonal antibodies raised to peptide sequences of cerebrovascular beta-amyloid and beta-amyloid of senile plaques from patients with Alzheimer's disease. Thus, the amyloid in these vascular malformations is immunologically related to beta-amyloid protein. This finding provides another indication that vascular beta-amyloid deposition is not specific for Alzheimer's disease and suggests that an existing abnormality of vessels may be a predisposing factor. Images Figure 1 Figure 2A Figure 2B Figure 3 Figure 4 PMID:3293463

  14. Thermographic Assessment of a Vascular Malformation of the Hand: A New Imaging Modality

    PubMed Central

    Hardwicke, Joseph T.; Titley, O. Garth

    2016-01-01

    Vascular malformations of the hand are rare. Angiography is the current Gold Standard imaging modality. Thermal imaging is an emerging noninvasive, noncontact technology that does not require intravenous contrast agents. We present the case of a patient with an arteriovenous malformation affecting the hand in which thermal imaging has been used as an adjunct to capture baseline images to allow monitoring of progression. We suggest that thermal imaging provides an adjunct that can be used in addition to clinical examination and/or angiography for the diagnosis and routine follow-up of conservatively managed arteriovenous malformations, to monitor progression or vascular steal, and also for recording recurrence after surgical excision for which there is known to be a significant incidence. With the benefit of being a noninvasive imaging modality that does not require intravenous contrast, or ionizing radiation exposure, office-based thermal imaging may become commonplace. PMID:27195175

  15. [Therapeutic indications for percutaneous laser in patients with vascular malformations and tumors].

    PubMed

    Labau, D; Cadic, P; Ouroussoff, G; Ligeron, C; Laroche, J-P; Guillot, B; Dereure, O; Quéré, I; Galanaud, J-P

    2014-12-01

    Lasers are increasingly used to treat vascular abnormalities. Indeed, this technique is non-invasive and allows a specific treatment. The aim of this review is to present some biophysical principles of the lasers, to describe the different sorts of lasers available for treatment in vascular medicine indications. Three principal lasers exist in vascular medicine: the pulsed-dye laser, for the treatment of superficial pink lesions, the NdYAG-KTP laser for purple and bigger lesions, and the NdYAG long pulse laser for even deeper and bigger vascular lesions. In vascular malformations, port wine stains can also be treated by pulsed-dye laser, KTP or NdYAG when they are old and thick. Telangiectasias are good indications for the three sorts of lasers, depending on their depth, color and size. Microcystic lymphatic malformations can be improved by laser treatment. Arterio-venous malformations constitute a contraindication of laser treatment. In vascular tumors, involuted infantile hemangiomas constitute an excellent indication of pulsed-dye laser treatment. Controlled studies are necessary to evaluate and to compare the efficacy of each laser, in order to determine their optimal indications and optimal parameters for each machine.

  16. RGB imaging system for monitoring of skin vascular malformation's laser therapy

    NASA Astrophysics Data System (ADS)

    Jakovels, Dainis; Kuzmina, Ilona; Berzina, Anna; Spigulis, Janis

    2012-06-01

    A prototype RGB imaging system for mapping of skin chromophores consists of a commercial RGB CMOS sensor, RGB LEDs ring-light illuminator and orthogonally orientated polarizers for reducing specular reflectance. The system was used for monitoring of vascular malformations (hemagiomas and telangiectasias) therapy.

  17. MR imaging of soft-tissue vascular malformations: diagnosis, classification, and therapy follow-up.

    PubMed

    Flors, Lucía; Leiva-Salinas, Carlos; Maged, Ismaeel M; Norton, Patrick T; Matsumoto, Alan H; Angle, John F; Hugo Bonatti, Md; Park, Auh Whan; Ahmad, Ehab Ali; Bozlar, Ugur; Housseini, Ahmed M; Huerta, Thomas E; Hagspiel, Klaus D

    2011-01-01

    Vascular malformations and tumors comprise a wide, heterogeneous spectrum of lesions that often represent a diagnostic and therapeutic challenge. Frequent use of an inaccurate nomenclature has led to considerable confusion. Since the treatment strategy depends on the type of vascular anomaly, correct diagnosis and classification are crucial. Magnetic resonance (MR) imaging is the most valuable modality for classification of vascular anomalies because it accurately demonstrates their extension and their anatomic relationship to adjacent structures. A comprehensive assessment of vascular anomalies requires functional analysis of the involved vessels. Dynamic time-resolved contrast material-enhanced MR angiography provides information about the hemodynamics of vascular anomalies and allows differentiation of high-flow and low-flow vascular malformations. Furthermore, MR imaging is useful in assessment of treatment success and establishment of a long-term management strategy. Radiologists should be familiar with the clinical and MR imaging features that aid in diagnosis of vascular anomalies and their proper classification. Furthermore, they should be familiar with MR imaging protocols optimized for evaluation of vascular anomalies and with their posttreatment appearances. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.315105213/-/DC1.

  18. Imaging Spectrum of Hemangioma and Vascular Malformations of the Head and Neck in Children and Adolescents

    PubMed Central

    Bhat, Venkatraman; Salins, Paul C; Bhat, Varun

    2014-01-01

    Vascular lesions of the head and neck region in children constitute an interesting group of lesions that benefit immensely from imaging techniques. Imaging is essential for identification, characterization, and delineation of the extent of lesion and subsequent follow-up. Infantile hemangiomas, which are vascular tumors with a specific evolution pattern, constitute a large majority of these lesions. On the other hand, there are vascular malformations, which are anomalies of the vascular system, consisting of a range of vascular tissues associated with various flow patterns. When diagnosis is clinically evident, imaging should utilize non-radiation techniques and address the issues necessary for management. Timing and interpretation of imaging methods employed in assessing childhood vascular lesion should also take into consideration the natural history so that imaging is performed to address a specific question. This review highlights the typical appearance of a hemangioma and a group of vascular malformations of the head and neck. For descriptive purpose, an attempt has been made to group lesions into specific subsites, with each one having specific clinical significance. Cases included illustrate the spectrum of the disease ranging from classical form in young children to slightly differing manifestations of the disease in adolescents and adults. The illustrations also provide a novel way of presenting image data using volume-rendering techniques of 3D data. Multi-modality team interaction and management strategies of these complex lesions are also emphasized. PMID:25161800

  19. Percutaneous and combined percutaneous and intralesional Nd:YAG-laser therapy for vascular malformations.

    PubMed

    Wimmershoff, M B; Landthaler, M; Hohenleutner, U

    1999-01-01

    The numerous types of vascular abnormality are classified in groups according to their pathological and anatomical features. We present case histories of 2 patients who had vascular malformations of the face since birth or early childhood. Application methods, side-effects and complications of percutaneous and intra-lesional Nd:YAG-laser therapy are reviewed for these patients. A 54-year-old woman was treated percutaneously with the Nd: YAG-laser at 1064 nm, with 20 30 W, cw 1-5 s pulses and 2 - 3 mm spot size. A 59-year-old woman was treated with the combined percutaneous and intralesional laser therapy with 30 W, cw 1-5 s pulses and 2-3 mm spot size. In both cases, percutaneous or combined percutaneous and intra-lesional Nd: YAG-laser application resulted in a significant shrinking of the lesion. The Nd:YAG-laser radiation at 1064 nm presents an effective treatment of vascular malformations due to its deep penetration into the tissue. No standardized guidelines for Nd: YAG-laser therapy exist and the treatment parameters should be chosen individually according to the type of vascular malformation.

  20. Multiple cavernous malformations with supravermian arachnoid cyst.

    PubMed

    Unalp, Aycan; Uran, Nedret

    2007-11-01

    Cerebral cavernous malformation are congenital vascular abnormalities that have been reported in 0.4% of the population; they represent 5-13% of all cerebrovascular malformations. Onset of cerebral cavernous malformations may be associated with seizures, intracranial hemorrhages, focal neurological deficit or migraine-type headaches. Some patients may require surgical intervention due to hemorrhage. Multiple cavernomas in childhood have been reported in the literature, but they are rare. This manuscript presents a 12-year-old girl with multiple cavernomas accompanied by supravermian arachnoid cyst detected by neuroimaging techniques. This is the first report that demonstrates a case of pediatric multiple cavernous malformation coexisting with arachnoid cyst of the supravermian cistern.

  1. [Intestinal venous vascular malformation: Unusual etiology of gastrointestinal bleeding in pediatrics. Case report].

    PubMed

    Ninomiya, Inés S; Steimberg, Clarisa; Udaquiola, Julia; González, Lucio; Liberto, Daniel; Cieri, Patricio; Peralta, Oscar; Orsi, Marina

    2016-06-01

    Intestinal vascular malformations, especially those in the right colon, are a frequent cause of lower gastrointestinal bleeding in adults, but they are a very rare condition in children. Symptoms include acute hemorrhage, intestinal obstruction, or chronic anemia of uncertain etiology, which is the most frequent form of presentation but the most difficult to diagnose and thus properly treat. We report the case of an 11 year old boy admitted to the Emergency Room with abdominal pain, vomits, hemodynamic decompensation, who required expansion and blood transfusion. With history ofrecurrent bloody stools since infancy with repeated normal endoscopies and Tc99 scintigraphy with chronic anemia and no improvement despite adequate treatment. In the last admission, the videocolonoscopy detected a venous vascular malformation in the ileocecal region. The angiography and the entero multislice computer tomography scanner were valuable tools to confirm the diagnosis and to select the appropriate surgical procedure for this rare condition.

  2. Cerebral vasospasm. Part I. In cerebral vascular malformations.

    PubMed

    Mohr, J P; Kase, C S

    1983-01-01

    This review enumerates the many proposed mechanisms of vasospasm, including cellular elements, agents derived from the blood and injured cerebral tissues, alteration of calcium: magnesium ratios, free radical reactions, hypothalamic injury, clogging of the subarachnoid space, obstructions of the vasa vasorum and necrosis of the media with subintimal proliferation and intraluminal acidosis. At present, no single agent has been demonstrated as the only source of vasospasm, and whether the disorder is spasm or a chronic arteriopathy remains the subject of argument. The factors influencing the frequency, timing, severity and distribution of angiographically documented vasospasm are discussed, including data from our own population-based study over a 3 year period showing an incidence of vasospasm of 73%. Special emphasis is given to the observation that differences in patient populations play a major role in the incidence and severity of reported vasospasm: those from non-selective populations show a higher incidence of vasospasm and a greater severity of the syndromes attributed to spasm. Hypotheses are offered to account for the low frequency of vasospasm in hemorrhages from arteriovenous malformations and mycotic aneurysms. Clinical syndromes of vasospasm are reviewed, with special emphasis on our own material. The mode of onset and subsequent course of syndromes include those of sudden onset consistent with embolism, and those of gradual onset suggesting a low flow state. Their relationship to the severity of the subarachnoid hemorrhage and the vasospasm is presented. The paucity of syndromes of isolated deep infarcts of the lacunar type is noted. An account is given of the many failed therapies and the future hopes for early surgery. Innovations in medical therapy, including the use of some platelet inhibitors available only in some countries, and rationales for the use of aspirin and even heparin is discussed.

  3. Percutaneous Treatment of Peripheral Vascular Malformations in Children: Long-Term Clinical Outcome

    SciTech Connect

    Linden, Edwin van der; Otoide-Vree, Marleen; Pattynama, Peter M. T.

    2012-04-15

    Purpose: This study was designed to assess the rate of complications and clinical failure at 3 and 12 months after percutaneous treatment of vascular malformations in children. Furthermore, we describe patient satisfaction of treatment results during 5 years of follow-up. Methods: In a retrospective cohort study, we evaluated 26 patients younger than aged 19 years who were treated for symptomatic vascular malformations. Data on treatment outcomes and patient satisfactions were obtained with a precoded structured questionnaire. Patient files and imaging data were retrieved to obtain information regarding the vascular malformations and treatment. Clinical success was defined as disappearance or partial improvement of the complaints. Patient satisfaction was declared whenever patients answered in the questionnaire that they were satisfied with the treatment results. Results: Of 26 eligible patients, we included 23 (88%). The mean follow-up was 36 (range, 15-127) months. Posttreatment, 87% (20/23; 95% confidence interval (CI), 66-97%) of patients reported clinical success at 3 months. At 1, 2, 3, 4, and 5 years of follow-up this percentage was 74%, 59%, 59%, 59%, and 59%, respectively. Eleven (48%, 95% CI 27-69%) patients had experienced complications and 22% (95% CI 7-44%) had major complications, of which 5 had required additional treatment. In all, 83% (19/23) of the patients reported satisfaction with the treatment. Conclusions: Percutaneous treatment of vascular malformations improved clinical symptoms in 87% of the patients at 3 months and were sustainable for half of all patients during a 5-year follow-up period. However, major complications were seen in 22%.

  4. [State of the art of classification, diagnostics and therapy for cervicofacial hemangiomas and vascular malformations].

    PubMed

    Werner, J A; Eivazi, B; Folz, B J; Dünne, A-A

    2006-12-01

    The successful treatment of vascular anomalies depends on profound knowledge of the biologic behavior of vascular lesions and their correct classification. On the base of the clinical course Mulliken and Glowacki developed a biologic classification that was accepted as official classification by the ISSVA (International Society for the Study of Vascular Anomalies). Based on an extended literature research, this manuscript will give an overview of different internationally accepted treatment concepts. Even if a wait-and-see strategy can be recommended in many cases of uneventful hemangiomas in infants the proliferative growth of such lesions requires an adequate treatment indication. Vascular malformations that persist lifelong require treatment in the majority of the cases, especially when clinical symptoms occur. Based on individual parameters such as the diameter, location or growth behavior, different therapeutic options as cryotherapy, corticosteroids, laser therapy, sclerotherapy, surgical intervention and/or embolisation can be performed successfully. None of those treatment concepts, however, represents the only treatment method of choice.

  5. Spontaneous thrombosis of vein of Galen malformation

    PubMed Central

    Kariyappa, Kalpana Devi; Krishnaswami, Murali; Gnanaprakasam, Francis; Ramachandran, Madan; Krishnaswamy, Visvanathan

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare intracranial vascular malformation. Before the advent and advancement of various endovascular techniques, there was dismal prognosis. Rarely, this condition may spontaneously thrombose without the need for surgical or endovascular treatment with good prognosis. We report a case of an 8-month-old infant who had serial imaging, suggestive of VOGM and presented to us for further management, wherein the imaging revealed spontaneous thrombosis. PMID:27857804

  6. Coupling hemodynamics with vascular wall mechanics and mechanobiology to understand intracranial aneurysms

    PubMed Central

    Humphrey, J.D.

    2009-01-01

    Arteries exhibit a remarkable ability to adapt in response to sustained alterations in hemodynamic loading, to heal in response to injuries, and to compensate in response to diverse disease conditions. Nevertheless, such compensatory adaptations are limited and many vascular disorders, if untreated, lead to significant morbidity or mortality. Parallel advances in vascular biology, medical imaging, biomechanics, and computational methods promise to provide increased insight into many arterial diseases, including intracranial aneurysms. In particular, although it may be possible to identify useful clinical correlations between either the blood flow patterns within or the shape of aneurysms and their rupture-potential, our ultimate goal should be to couple studies of hemodynamics with those of wall mechanics and the underlying mechanobiology so that we can understand better the mechanisms by which aneurysms arise, enlarge, and rupture and thereby identify better methods of treatment. This paper presents one such approach to fluid-solid-growth (FSG) modeling of intracranial aneurysms. PMID:20526461

  7. Toxicity of Gamma Knife Radiosurgery in the Treatment of Intracranial Tumors in Patients With Collagen Vascular Diseases or Multiple Sclerosis

    SciTech Connect

    Lowell, Dot; Tatter, Stephen B.; Bourland, J. Daniel; Guzman, Allan F. de; Ekstrand, Kenneth E.; Ellis, Thomas L.; Lovato, James F.; McMullen, Kevin P.; Munley, Michael T.; Shaw, Edward G.; Urbanic, James J.; Chan, Michael D.

    2011-11-15

    Purpose: To assess toxicity in patients with either a collagen vascular disease (CVD) or multiple sclerosis (MS) treated with intracranial radiosurgery. Methods and Materials: Between January 2004 and April 2009, 6 patients with MS and 14 patients with a CVD were treated with Gamma Knife radiosurgery (GKRS) for intracranial tumors. Treated lesions included 15 total brain metastases in 7 patients, 11 benign brain tumors, 1 low grade glioma, and 1 cavernous malformation. Toxicities were graded by the Radiation Therapy Oncology Group Acute/Late Radiation Morbidity Scoring Criteria. 'Rare toxicities' were characterized as those reported in the scientific literature at an incidence of <5%. Results: Median follow-up time was 16 months. Median dose to the tumor margin was 13.0 Gy (range, 12-21 Gy). Median size of tumor was 5.0 cm{sup 3} (range, 0.14-7.8 cm{sup 3}). Of the 14 patients with CVD, none experienced a Grade 3 or 4 toxicity or a toxicity characterized as rare. Of the 6 patients with MS, 3 experienced rare toxicities, and two of these were Grade 3 toxicities. Rare complications included a patient experiencing both communicating hydrocephalus and facial nerve palsy, as well as 2 additional patients with motor cranial nerve palsy. High-grade toxicities included the patient with an acoustic neuroma requiring ventriculoperitoneal shunt placement for obstructive hydrocephalus, and 1 patient with a facial nerve schwannoma who experienced permanent facial nerve palsy. Interval between radiosurgery and high-grade toxicities ranged from 1 week to 4 months. Conclusions: Our series suggests that patients with MS who receive GKRS may be at increased risk of rare and high-grade treatment-related toxicity. Given the time course of toxicity, treatment-related edema or demyelination represent potential mechanisms.

  8. Stabiliztin of VEGFR2 Signaling by Cerebral Cavernous Malformation 3 is Critical for Vascular Development

    SciTech Connect

    Y He; H Zhang; L Yu; M Gunel; T Boggon; H Chen; W Min

    2011-12-31

    Cerebral cavernous malformations (CCMs) are human vascular malformations caused by mutations in three genes of unknown function: CCM1, CCM2, and CCM3. CCM3, also known as PDCD10 (programmed cell death 10), was initially identified as a messenger RNA whose abundance was induced by apoptotic stimuli in vitro. However, the in vivo function of CCM3 has not been determined. Here, we describe mice with a deletion of the CCM3 gene either ubiquitously or specifically in the vascular endothelium, smooth muscle cells, or neurons. Mice with global or endothelial cell-specific deletion of CCM3 exhibited defects in embryonic angiogenesis and died at an early embryonic stage. CCM3 deletion reduced vascular endothelial growth factor receptor 2 (VEGFR2) signaling in embryos and endothelial cells. In response to VEGF stimulation, CCM3 was recruited to and stabilized VEGFR2, and the carboxyl-terminal domain of CCM3 was required for the stabilization of VEGFR2. Indeed, the CCM3 mutants found in human patients lacking the carboxyl-terminal domain were labile and were unable to stabilize and activate VEGFR2. These results demonstrate that CCM3 promotes VEGFR2 signaling during vascular development.

  9. Congenital Vascular Malformations of the Liver: An Association With Trisomy 21.

    PubMed

    Burdall, Oliver C; Grammatikopoulos, Tassos; Sellars, Maria; Hadzic, Nedim; Davenport, Mark

    2016-12-01

    A link between congenital vascular malformation (CVM) of the liver and trisomy 21 has been suggested. We reviewed all children with trisomy 21 referred for investigation to a specialist pediatric hepatobiliary unit (1985-2015). Forty-five children with trisomy 21 were identified; 7 (15%) had a defined CVMs (4 girls). All such infants were also diagnosed with a range of cardiac defects. CVMs were divided according to the nature of the vascular connection. Group (i) (n = 3): Abnormal venovenous anomaly. This included portocaval shunt and patent ductus venosus (n = 2). Group (ii) (n = 4): Involvement of all 3 vascular systems. Two infants had arterioportal hypertension caused by hepatic arteries feeding into a left portal vein aneurysm within the umbilical fissure. Two infants had more complex hepatic artery to hepatic vein shunts developing early cardiorespiratory failure with progressive jaundice. Our series shows a clear association between cardiac anomalies and CVM in children with trisomy 21.

  10. [Diagnosis and differential diagnosis of cerebro-vascular malformations by CT (author's transl)].

    PubMed

    Schumacher, M; Stoeter, P; Voigt, K

    1980-03-01

    In 38 patients, the diagnosis of a cerebrovascular malformation (17 arteriovenous agniomas including one low-flow- and two venous angiomas; 10 aneurysms; 4 arteriovenous fistulae of the cavernous sinus, the tentorium and one of the Great Vein of Galen; 6 megadolical basilar arteries) was initially made by computertomographic (CT) examination, including contrast enhancement. The characteristic and pathognomonic CT findings are described and compared with those of cerebral angiography also done in these cases. The problems of differential diagnosis and the reasons for a false CT diagnosis in 5 other patients with a cerebro-vascular malformation are investigated; and the diagnostic value of cerebral angiography and CT is discussed and their complementary functions are being pointed out.

  11. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    PubMed Central

    de León Ojeda, Norma Elena; Soriano-Torres, Michel; Cabrera, Mercedes J.; Benítez Ramos, Dunia Bárbara

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3) de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4. PMID:23320208

  12. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

    PubMed

    Teo, Mario; Johnson, Jeremiah N; Bell-Stephens, Teresa E; Marks, Michael P; Do, Huy M; Dodd, Robert L; Bober, Michael B; Steinberg, Gary K

    2016-12-01

    OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD

  13. Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

    PubMed

    Antonov, Nina K; Spence-Shishido, Allyson; Marathe, Kalyani S; Tlougan, Brook; Kazim, Michael; Sultan, Sally; Hess, Christopher P; Morel, Kimberly D; Frieden, Ilona J; Garzon, Maria C

    2015-01-01

    We present two cases of infants with a similar constellation of clinical findings: retro-orbital infantile hemangioma (IH), internal carotid artery (ICA) arteriopathy, and intracranial IH. In both cases, intracranial vascular anomalies and hemangiomas were found incidentally during evaluation of unilateral proptosis. Neither infant had evidence of cutaneous segmental IH of the face or neck, which might have provided a clue to the diagnosis of PHACE syndrome or of intracranial hemangiomas. In one case, intracranial involvement was particularly extensive and function threatening, with mass effect on the brain parenchyma. These cases serve to highlight the fact that clinical findings of proptosis, globe deviation, and strabismus should prompt immediate imaging to confirm the presence of orbital IHs and to exclude other diagnoses. Moreover, based on our cases and the embryologic origin of the orbit as a unique developmental unit, patients with confirmed retro-orbital IHs should undergo evaluation for anomalies associated with PHACE syndrome. Patients with orbital IHs and an additional major criterion for PHACE syndrome should be considered to have definite, and not just possible, PHACE syndrome.

  14. Overexpression of Notch1 ectodomain in myeloid cells induces vascular malformations through a paracrine pathway.

    PubMed

    Li, Xiujie; Calvo, Ezequiel; Cool, Marc; Chrobak, Pavel; Kay, Denis G; Jolicoeur, Paul

    2007-01-01

    We previously reported that truncation of Notch1 (N1) by provirus insertion leads to overexpression of both the intracellular (N1(IC)) and the extracellular (N1(EC)) domains. We produced transgenic (Tg) mice expressing N1(EC) in T cells and in cells of the myeloid lineage under the regulation of the CD4 gene. These CD4C/N1(EC) Tg mice developed vascular disease, predominantly in the liver: superficial distorted vessels, cavernae, lower branching of parenchymal vessels, capillarized sinusoids, and aberrant smooth muscle/endothelial cell topography. The disease developed in lethally irradiated normal mice transplanted with Tg bone marrow or fetal liver cells as well as in Rag-/- Tg mice. In nude mice transplanted with fetal liver cells from (ROSA26 x CD4C/N1(EC)) F1 Tg mice, abnormal vessels were of recipient origin. Transplantation of Tg peritoneal macrophages into normal recipients also induced abnormal vessels. These Tg macrophages showed impaired functions, and their conditioned medium inhibited the proliferation of liver sinusoid endothelial cells in vitro. The Egr-1 gene and some of its targets (Jag1, FIII, FXIII-A, MCP-1, and MCP-5), previously implicated in hemangioma or vascular malformations, were overexpressed in Tg macrophages. These results show that myeloid cells can be reprogrammed by N1(EC) to induce vascular malformations through a paracrine pathway.

  15. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

    PubMed Central

    Stockton, Rebecca A.; Shenkar, Robert; Awad, Issam A.

    2010-01-01

    Endothelial cell–cell junctions regulate vascular permeability, vasculogenesis, and angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans result from mutations of CCM2 (malcavernin, OSM, MGC4607), PDCD10 (CCM3), or KRIT1 (CCM1), a Rap1 effector which stabilizes endothelial cell–cell junctions. Homozygous loss of KRIT1 or CCM2 produces lethal vascular phenotypes in mice and zebrafish. We report that the physical interaction of KRIT1 and CCM2 proteins is required for endothelial cell–cell junctional localization, and lack of either protein destabilizes barrier function by sustaining activity of RhoA and its effector Rho kinase (ROCK). Protein haploinsufficient Krit1+/− or Ccm2+/− mouse endothelial cells manifested increased monolayer permeability in vitro, and both Krit1+/− and Ccm2+/− mice exhibited increased vascular leak in vivo, reversible by fasudil, a ROCK inhibitor. Furthermore, we show that ROCK hyperactivity occurs in sporadic and familial human CCM endothelium as judged by increased phosphorylation of myosin light chain. These data establish that KRIT1–CCM2 interaction regulates vascular barrier function by suppressing Rho/ROCK signaling and that this pathway is dysregulated in human CCM endothelium, and they suggest that fasudil could ameliorate both CCM disease and vascular leak. PMID:20308363

  16. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.

    PubMed

    Stockton, Rebecca A; Shenkar, Robert; Awad, Issam A; Ginsberg, Mark H

    2010-04-12

    Endothelial cell-cell junctions regulate vascular permeability, vasculogenesis, and angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans result from mutations of CCM2 (malcavernin, OSM, MGC4607), PDCD10 (CCM3), or KRIT1 (CCM1), a Rap1 effector which stabilizes endothelial cell-cell junctions. Homozygous loss of KRIT1 or CCM2 produces lethal vascular phenotypes in mice and zebrafish. We report that the physical interaction of KRIT1 and CCM2 proteins is required for endothelial cell-cell junctional localization, and lack of either protein destabilizes barrier function by sustaining activity of RhoA and its effector Rho kinase (ROCK). Protein haploinsufficient Krit1(+/-) or Ccm2(+/-) mouse endothelial cells manifested increased monolayer permeability in vitro, and both Krit1(+/-) and Ccm2(+/-) mice exhibited increased vascular leak in vivo, reversible by fasudil, a ROCK inhibitor. Furthermore, we show that ROCK hyperactivity occurs in sporadic and familial human CCM endothelium as judged by increased phosphorylation of myosin light chain. These data establish that KRIT1-CCM2 interaction regulates vascular barrier function by suppressing Rho/ROCK signaling and that this pathway is dysregulated in human CCM endothelium, and they suggest that fasudil could ameliorate both CCM disease and vascular leak.

  17. Stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of intracranial arteriovenous malformations in childhood and adolescence

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Lyman, J.T.

    1989-06-01

    Forty patients aged 6 to 18 years have now been treated for inoperable intracranial arteriovenous malformations (AVMs) using stereotactic heavy-charged-particle Bragg peak radiosurgery at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron at the University of California, Berkeley. This paper describes the procedures for selection of patients, the treatment protocol, and the neurological and neuroradiological responses to stereotactic radiosurgery in this age group. The volumes of the treated AVMs ranged from 265 mm/sup 3/ to 60,000 mm/sup 3/. The results are favorable: thus far, 20 of 25 patients have experienced greater than or equal to 50% obliteration of their AVMs within 1 year after treatment, and 14 of 18 patients have experienced total obliteration of the AVM by 2 years after treatment. Two patients hemorrhaged from radiosurgically treated AVMs within 12 months after treatment, but none thereafter. Complications include vasogenic edema and arterial occlusion; three patients have had neurological worsening as definite or possible sequelae of treatment. The strengths and limitations of the method are discussed.

  18. [Radiosurgical treatment of minor intracranial arteriovenous malformations by using a linear accelerator].

    PubMed

    Betti, O O; Munari, C

    1992-01-01

    This study deals with 43 patients with cerebral arteriovenous malformations (AVMs) of a maximum of 20 mm in diameter. All of them were radiosurgically treated with a linear accelerator in stereotatic conditions (UMIC). The delivered doses vary from 20 gys to 50 gys. Thirty-seven were controlled angiographically and 35 of them showed the disappearence of the AVM. Different parameters can modify the results: delivered dose, the size and shape of the lesion, target-volume, peripheral lesion isodosis (75%), location, underestimation of the size or dose. These results show that small lesions are best to treat than larger ones, particularly because their volume enables us to encompass them more easily. The uniformity of this series is related to the homogenous size of the treated AVMs, thus avoiding the discussion of global, unclear, results.

  19. Massive lower gastrointestinal bleeding due to 'Dieulafoy's vascular malformation' of the jejunum: case report.

    PubMed Central

    Goins, W. A.; Chatman, D. M.; Kaviani, M. J.

    1995-01-01

    Dieulafoy reported three cases of massive gastric hemorrhage due to a dilated submucosal artery in 1898, and since then, more than 100 cases of this gastric vascular malformation have been reported in the literature. These same pathologic lesions are even a rarer occurrence in the small bowel. This article reports a 38-year-old hypotensive male who presented to the hospital after an acute onset of massive lower gastrointestinal hemorrhage; superior mesenteric angiography demonstrated an actively bleeding lesion in a proximal jejunal branch. Intraoperative small bowel endoscopy via an enterotomy demonstrated a 4 mm bleeding submucosal lesion 30 cm distal to the ligament of Treitz. A literature review revealed six other cases of Dieulafoy's vascular malformation that occurred in the small bowel, with the lesions located in the proximal jejunum between 15 cm and 45 cm distal to the ligament of Treitz. The cause of these lesions is unknown. This case demonstrates the importance of preoperative angiography and intraoperative endoscopy when massive lower gastrointestinal hemorrhage is suspected to be from a small bowel source. Images Figure 1 Figure 2 Figure 3 PMID:7473854

  20. Rare presentation of intracranial vascular blowout after tumor resection and radiation therapy

    PubMed Central

    Alaraj, Ali; Behbahani, Mandana; Valyi-Nagy, Tibor; Aardsma, Nathan; Aletich, Victor A

    2014-01-01

    A middle-aged patient presented with a rapidly growing right dural-based extra-axial posterior clinoid mass extending to the right cavernous sinus that was surgically resected. Histological examination showed solid growth of primitive neuroectodermal tumor arising from the third nerve. Following surgical resection, the patient was further managed by radiation and chemotherapy. Two years later the patient developed new intracranial hemorrhage in the area adjacent to the previous surgical cavity. A cerebral angiogram showed contrast extravasation at the junction of the posterior communicating artery (Pcom) and the right posterior cerebral artery (PCA), with an expanding pseudoaneurysm. This was managed with N-butyl cyanoacrylate embolization. Autopsy showed microscopic recurrence of tumor into the PCA/PCom region with invasion of the wall of the Pcom. This case report illustrates the concept of vascular blowout in intracranial cerebral vasculature. It appears that, in the presence of risk factors that contribute to weakening of vessel walls (surgery, radiation, tumor recurrence), a blowout can occur intracranially. PMID:24748141

  1. The contribution of prenatal diagnosis to the understanding of malformative intracranial cysts: state of the art.

    PubMed

    Pierre-Kahn, A; Hanlo, P; Sonigo, P; Parisot, D; McConnell, R S

    2000-11-01

    This review evaluates the contribution of prenatal diagnosis to the understanding of intracranial cysts. We describe the outcome of 54 fetuses in which prenatal investigations indicated the presence of such lesions. The cysts were diagnosed between 20 and 30 weeks of gestation. Most (63%) were supratentorial and interhemispheric. There was only a single sylvian cyst. In the infratentorial compartment, median retrocerebellar cysts were predominant. Incisural cysts accounted for 14.8% of the series. Nine pregnancies were interrupted because of the presence of associated brain disorders. Forty-five children are alive. Thirty-four had neuropsychological tests. Cysts rarely progressed, most frequently stabilized and often regressed postnatally. Hydrocephalus was rare. In two cases delivery was precipitated at 36 weeks to allow urgent treatment of rapidly evolving cysts. Thirteen children (28.2%) were treated postnatally, in general for developing cysts. The median follow-up for the whole series exceeds 4 years. Behavior, neurological development, and intelligence are normal in 88% of the cases, and 91% have a normal neurological status. Prognosis at the time of the prenatal consultation was correct in 89% of the cases. We emphasize the value of prenatal magnetic resonance imaging and karyotype studies to limit risks of incorrect prognosis.

  2. Coexistence of splenic hemangioma and vascular malformation of the lower extremity in a child: a case report.

    PubMed

    Gawrych, Elzbieta; Walecka, Anna; Kwas, Artur; Materny, Jacek; Sawicki, Marcin

    2012-01-01

    We report a rare finding of the coexistence of splenic hemangioma and progressive vascular malformation of the left lower extremity in a child. The lesion on the left calf was described as a vascular malformation in computed tomography and magnetic resonance. At the age of one year, the abdominal Doppler ultrasound was normal. The examination was repeated at the age of six years due to recurrent pain in the left hypochondrium and revealed giant multiple splenic hemangiomas. The girl underwent splenectomy at the age of 14 years. Histological findings demonstrated multiple cavernous hemangiomas. We present our case report regarding the diagnosis of spleen hemangioma and indications for surgical management in children.

  3. Use of intracranial and ocular thermography before and after arteriovenous malformation excision.

    PubMed

    Hwang, Peter Y K; Lewis, Philip M; Maller, Jerome J

    2014-11-01

    Excision of arteriovenous malformations (AVMs) is known to carry a risk of postoperative hemorrhage, postulated to be the result of normal perfusion pressure breakthrough. It is also possible that AVMs may cause a steal effect, reducing perfusion in nearby vessels. There is currently no simple method of visualizing the presence or absence of steal effect intraoperatively. We hypothesized that the infrared thermographic (heat sensitive) imaging of perilesional brain may be useful for detecting reduced perfusion due to steal. Moreover, we hypothesized that if steal effect was present, it could impact on ocular perfusion and thereby temperature. Our objective was, therefore, to investigate whether perilesional cortical and ocular temperature (OT) may be a marker of steal effect. We intraoperatively acquired conventional and thermal images of the surgical field and eyes bilaterally, pre- and post-excisions of a large left hemisphere AVM. We found OT asymmetry preoperatively, which was absent after the AVM was excised. Intraoperative thermal images showed an increase of perilesional temperature, although this could be confounded by generalized changes in cortical perfusion due to anesthetics or surgery.

  4. Use of intracranial and ocular thermography before and after arteriovenous malformation excision

    NASA Astrophysics Data System (ADS)

    Hwang, Peter Y. K.; Lewis, Philip M.; Maller, Jerome J.

    2014-11-01

    Excision of arteriovenous malformations (AVMs) is known to carry a risk of postoperative hemorrhage, postulated to be the result of normal perfusion pressure breakthrough. It is also possible that AVMs may cause a steal effect, reducing perfusion in nearby vessels. There is currently no simple method of visualizing the presence or absence of steal effect intraoperatively. We hypothesized that the infrared thermographic (heat sensitive) imaging of perilesional brain may be useful for detecting reduced perfusion due to steal. Moreover, we hypothesized that if steal effect was present, it could impact on ocular perfusion and thereby temperature. Our objective was, therefore, to investigate whether perilesional cortical and ocular temperature (OT) may be a marker of steal effect. We intraoperatively acquired conventional and thermal images of the surgical field and eyes bilaterally, pre- and post-excisions of a large left hemisphere AVM. We found OT asymmetry preoperatively, which was absent after the AVM was excised. Intraoperative thermal images showed an increase of perilesional temperature, although this could be confounded by generalized changes in cortical perfusion due to anesthetics or surgery.

  5. Sex-dichotomous effects of NOS1AP promoter DNA methylation on intracranial aneurysm and brain arteriovenous malformation.

    PubMed

    Wang, Zhepei; Zhao, Jikuang; Sun, Jie; Nie, Sheng; Li, Keqing; Gao, Feng; Zhang, Tiefeng; Duan, Shiwei; Di, Yazhen; Huang, Yi; Gao, Xiang

    2016-05-16

    The goal of this study was to investigate the contribution of NOS1AP-promoter DNA methylation to the risk of intracranial aneurysm (IA) and brain arteriovenous malformation (BAVM) in a Han Chinese population. A total of 48 patients with IAs, 22 patients with BAVMs, and 26 control individuals were enrolled in the study. DNA methylation was tested using bisulfite pyrosequencing technology. We detected significantly higher DNA methylation levels in BAVM patients than in IA patients based on the multiple testing correction (CpG4-5 methylation: 5.86±1.04% vs. 4.37±2.64%, P=0.006). In women, CpG4-5 methylation levels were much lower in IA patients (3.64±1.97%) than in BAVM patients (6.11±1.20%, P<0.0001). However, in men, CpG1-3 methylation levels were much higher in the controls (6.92±0.78%) than in BAVM patients (5.99±0.70%, P=0.008). Additionally, there was a gender-based difference in CpG1 methylation within the controls (men vs. women: 5.75±0.50% vs. 4.99±0.53%, P=0.003) and BAVM patients (men vs. women: 4.70±0.74% vs. 5.50±0.87%, P=0.026). A subgroup analysis revealed significantly higher CpG3 methylation in patients who smoked than in those who did not (P=0.041). Our results suggested that gender modulated the interaction between NOS1AP promoter DNA methylation in IA and BAVM patients. Our results also confirmed that regular tobacco smoking was associated with increased NOS1AP methylation in humans. Additional studies with larger sample sizes are required to replicate and extend these findings.

  6. Cardiopulmonary bypass in surgery for complex-combined vascular malformation of the lower limb: case report.

    PubMed

    Ismail, M S; Sharaf, I; Thambidorai, C R; Zainal, A; Somasundaram, S; Adeeb, S; Sajjad, M Y; Bilkis, B; Felicia, L S K

    2005-05-01

    A 16-year-old boy was referred with features of Parkes Weber syndrome (PWS) involving the right lower limb. He had presented at birth with cutaneous vascular malformations (VM) in the right thigh and at the age of 7 years developed congestive cardiac failure, which was controlled with drugs. He received alpha interferon and steroids during this period without any benefit. He defaulted follow-up and at 12 years of age presented with further enlargement of the VM in the right thigh and leg with skin and soft tissue thickening. At this stage, embolization and subsequent excision of the VM were tried, but the surgery was abandoned because of massive hemorrhage. Over the next 4 years, the boy became totally bedridden because of massive increase in the size of the limb, repeated hemorrhages, and secondary infection of the VM. Right hip disarticulation was considered the best option to improve his quality of life. To prevent uncontrollable hemorrhage during surgery, the disarticulation was done under cardiopulmonary bypass with low circulatory flow. Postoperatively, the patient required intensive care nursing for a week. He is presently ambulatory with crutches. Cardiopulmonary bypass with low flow has been used for treating posttraumatic arteriovenous malformations. However, its use in surgery for PWS has not been reported earlier.

  7. Vascular malformations of central nervous system: A series from tertiary care hospital in South India

    PubMed Central

    Karri, Sudhir Babu; Uppin, Megha S.; Rajesh, A.; Ashish, K.; Bhattacharjee, Suchanda; Rani, Y. Jyotsna; Sahu, B. P.; Saradhi, M Vijaya; Purohit, A. K.; Challa, Sundaram

    2016-01-01

    Aims and Objectives: To describe clinicopathological features of surgically resected vascular malformations (VMs) of central nervous system (CNS). Materials and Methods: Histologically diagnosed cases of VMs of CNS during April 2010–April 2014 were included. Demographic data, clinical and radiological features were obtained. Hematoxylin and eosin slides were reviewed along with Verhoeff-Van Gieson (VVG), Masson's trichrome, periodic acid-Schiff, and Perls' stains. Morphologically, cavernomas and arteriovenous malformations (AVMs) were distinguished on the basis of vessel wall features on VVG and intervening glial parenchyma. Results: Fifty cases were diagnosed as VMs of CNS with an age range of 14–62 years. These included 36 cavernomas, 12 AVMs, 2 mixed capillary-cavernous angiomas. Most of the cavernoma patients (15/36) presented with seizures, whereas AVM patients (8/12) had a headache as the dominant symptom. Twenty-nine patients were reliably diagnosed on radiological features. Microscopic evidence of hemorrhage was seen in 24/36 cavernomas and 6/12 AVMs, as opposed to radiologic evidence of 10 and 4, respectively. Reactive gliosis was seen in 16 cavernomas. Conclusions: Histological features are important for classifying the VMs of CNS as there are no specific clinical and radiological features. Type of VM has a bearing on management, prognosis, and risk of hemorrhage. PMID:27114659

  8. Optimizing treatment parameters for the vascular malformations using 1064-nm Nd:YAG laser

    NASA Astrophysics Data System (ADS)

    Gong, Wei; Lin, He; Xie, Shusen

    2010-02-01

    Near infrared Nd:YAG pulsed laser treatment had been proved to be an efficient method to treat large-sized vascular malformations like leg telangiectasia for deep penetrating depth into skin and uniform light distribution in vessel. However, optimal clinical outcome was achieved by various laser irradiation parameters and the key factor governing the treatment efficacy was still unclear. A mathematical model in combination with Monte Carlo algorithm and finite difference method was developed to estimate the light distribution, temperature profile and thermal damage in epidermis, dermis and vessel during and after 1064 nm pulsed Nd:YAG laser irradiation. Simulation results showed that epidermal protection could be achieved during 1064 nm Nd:YAG pulsed laser irradiation in conjunction with cryogen spray cooling. However, optimal vessel closure and blood coagulation depend on a compromise between laser spot size and pulse duration.

  9. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures.

  10. Angiomatous lesion and delayed cyst formation after gamma knife surgery for intracranial meningioma: case report and review of literatures.

    PubMed

    Liu, Zhiyong; He, Min; Chen, Hongxu; Liu, Yi; Li, Qiang; Li, Lin; Li, Jin; Chen, Haifeng; Xu, Jianguo

    2015-01-01

    Gamma Knife has become a major therapeutic method for intracranial meningiomas, vascular malformations and schwannomas with exact effect. In recent years an increasing number of delayed complications after Gamma Knife surgery have been reported, such as secondary tumors, cystic changes or cyst formation. But angiomatous lesion and delayed cyst formation after Gamma Knife for intracranial lesion has rarely been reported. Here we report the first case of angiomatous lesion and delayed cyst formation following Gamma Knife for intracranial meningioma and discuss its pathogenesis.

  11. Vascular permeability and iron deposition biomarkers in longitudinal follow-up of cerebral cavernous malformations.

    PubMed

    Girard, Romuald; Fam, Maged D; Zeineddine, Hussein A; Tan, Huan; Mikati, Abdul Ghani; Shi, Changbin; Jesselson, Michael; Shenkar, Robert; Wu, Meijing; Cao, Ying; Hobson, Nicholas; Larsson, Henrik B W; Christoforidis, Gregory A; Awad, Issam A

    2016-08-05

    OBJECTIVE Vascular permeability and iron leakage are central features of cerebral cavernous malformation (CCM) pathogenesis. The authors aimed to correlate prospective clinical behavior of CCM lesions with longitudinal changes in biomarkers of dynamic contrast-enhanced quantitative permeability (DCEQP) and quantitative susceptibility mapping (QSM) assessed by MRI. METHODS Forty-six patients with CCMs underwent 2 or more permeability and/or susceptibility studies in conjunction with baseline and follow-up imaging and clinical surveillance during a mean 12.05 months of follow-up (range 2.4-31.27 months). Based on clinical and imaging features, cases/lesions were classified as stable, unstable, or recovering. Associated and predictive changes in quantitative permeability and susceptibility were investigated. RESULTS Lesional mean permeability and QSM values were not significantly different in stable versus unstable lesions at baseline. Mean lesional permeability in unstable CCMs with lesional bleeding or growth increased significantly (+85.9% change; p = 0.005), while mean permeability in stable and recovering lesions did not significantly change. Mean lesional QSM values significantly increased in unstable lesions (+44.1% change; p = 0.01), decreased slightly with statistical significance in stable lesions (-3.2% change; p = 0.003), and did not significantly change in recovering lesions. Familial cases developing new lesions during the follow-up period showed a higher background brain permeability at baseline (p = 0.001), as well as higher regional permeability (p = 0.003) in the area that would later develop a new lesion as compared with the homologous contralateral brain region. CONCLUSIONS In vivo assessment of vascular permeability and iron deposition on MRI can serve as objective and quantifiable biomarkers of disease activity in CCMs. This may be applied in natural history studies and may help calibrate clinical trials. The 2 techniques are likely applicable in

  12. [Arteriovenous malformation-glioma association: study of four cases].

    PubMed

    Borges, Lia Raquel R; Malheiros, Suzana M F; Pelaez, Maria Paula; Stávale, João Norberto; Santos, Adrialdo J; Carrete, Henrique; Nogueira, Roberto Gomes; Ferraz, Fernando A P; Gabbai, Alberto A

    2003-06-01

    We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

  13. PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia

    PubMed Central

    Ola, Roxana; Dubrac, Alexandre; Han, Jinah; Zhang, Feng; Fang, Jennifer S.; Larrivée, Bruno; Lee, Monica; Urarte, Ana A.; Kraehling, Jan R.; Genet, Gael; Hirschi, Karen K.; Sessa, William C.; Canals, Francesc V.; Graupera, Mariona; Yan, Minhong; Young, Lawrence H.; Oh, Paul S.; Eichmann, Anne

    2016-01-01

    Activin receptor-like kinase 1 (ALK1) is an endothelial serine–threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice. VEGF and PI3K/AKT signalling are increased on Alk1 deletion and BMP9/10 ligand blockade. Genetic deletion of the signal-transducing Vegfr2 receptor prevents excessive angiogenesis but does not fully revert AVM formation. In contrast, pharmacological PI3K inhibition efficiently prevents AVM formation and reverts established AVMs. Thus, Alk1 deletion leads to increased endothelial PI3K pathway activation that may be a novel target for the treatment of vascular lesions in HHT2. PMID:27897192

  14. PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia.

    PubMed

    Ola, Roxana; Dubrac, Alexandre; Han, Jinah; Zhang, Feng; Fang, Jennifer S; Larrivée, Bruno; Lee, Monica; Urarte, Ana A; Kraehling, Jan R; Genet, Gael; Hirschi, Karen K; Sessa, William C; Canals, Francesc V; Graupera, Mariona; Yan, Minhong; Young, Lawrence H; Oh, Paul S; Eichmann, Anne

    2016-11-29

    Activin receptor-like kinase 1 (ALK1) is an endothelial serine-threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice. VEGF and PI3K/AKT signalling are increased on Alk1 deletion and BMP9/10 ligand blockade. Genetic deletion of the signal-transducing Vegfr2 receptor prevents excessive angiogenesis but does not fully revert AVM formation. In contrast, pharmacological PI3K inhibition efficiently prevents AVM formation and reverts established AVMs. Thus, Alk1 deletion leads to increased endothelial PI3K pathway activation that may be a novel target for the treatment of vascular lesions in HHT2.

  15. Vascular Cures

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  16. Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.

    PubMed

    Sa, Young Jo; Kim, Young Du; Moon, Seok-Whan; Kim, Chi-Kyung; Ki, Chang Seok

    2013-12-01

    An 8-year-old male presented with a cystic lung lesion in the left lower lobe, which was initially detected during surgery for a spontaneous rupture of the sigmoid colon at the age of 6 years. Tissue fragility and a tendency to bleed easily were noted during the surgery, which strongly suggested vascular Ehlers-Danlos syndrome. Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular Ehlers-Danlos syndrome was recommended, and showed a de novo mutation in the COL3A1 gene. This report presents the case of patient with occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of lung, in addition to a duplicated infrarenal vena cava.

  17. The vascular steal phenomenon is an incomplete contributor to negative cerebrovascular reactivity in patients with symptomatic intracranial stenosis.

    PubMed

    Arteaga, Daniel F; Strother, Megan K; Faraco, Carlos C; Jordan, Lori C; Ladner, Travis R; Dethrage, Lindsey M; Singer, Robert J; Mocco, J; Clemmons, Paul F; Ayad, Michael J; Donahue, Manus J

    2014-09-01

    'Vascular steal' has been proposed as a compensatory mechanism in hemodynamically compromised ischemic parenchyma. Here, independent measures of cerebral blood flow (CBF) and blood oxygenation level-dependent (BOLD) magnetic resonance imaging (MRI) responses to a vascular stimulus in patients with ischemic cerebrovascular disease are recorded. Symptomatic intracranial stenosis patients (n=40) underwent a multimodal 3.0T MRI protocol including structural (T1-weighted and T2-weighted fluid-attenuated inversion recovery) and hemodynamic (BOLD and CBF-weighted arterial spin labeling) functional MRI during room air and hypercarbic gas administration. CBF changes in regions demonstrating negative BOLD reactivity were recorded, as well as clinical correlates including symptomatic hemisphere by infarct and lateralizing symptoms. Fifteen out of forty participants exhibited negative BOLD reactivity. Of these, a positive relationship was found between BOLD and CBF reactivity in unaffected (stenosis degree<50%) cortex. In negative BOLD cerebrovascular reactivity regions, three patients exhibited significant (P<0.01) reductions in CBF consistent with vascular steal; six exhibited increases in CBF; and the remaining exhibited no statistical change in CBF. Secondary findings were that negative BOLD reactivity correlated with symptomatic hemisphere by lateralizing clinical symptoms and prior infarcts(s). These data support the conclusion that negative hypercarbia-induced BOLD responses, frequently assigned to vascular steal, are heterogeneous in origin with possible contributions from autoregulation and/or metabolism.

  18. Effect of electrochemical treatment on high-flow vascular malformations in the maxillofacial region.

    PubMed

    Xue, Lei; Qin, Xing-Jun; Wang, Xu-Kai; Wang, Hua; Jia, Rui; Zhai, Qin-Kai

    2011-12-01

    We explored the effect of electrochemical therapy for the treatment of high-flow venous malformations in the maxillofacial region in 32 patients. We used a method of anaesthesia that was suitable to the site and size of the lesion, and then inserted platinum needles into the lesion in a sterile environment. We protected the normal skin by inserting the cannulas into plastic sheaths, and connected the needles to an electrochemical machine. The common voltage, electric current, and amount of electricity were 6-8 V, 80-100 mA, and 10-20 C/cm(2), respectively. During a follow up period of two months to three years, 18 (56%) patients had a complete response, and 14 a partial response (44%). Electrochemical treatment is a simple, relatively atraumatic method of dealing with high-flow venous malformations that leaves no scars.

  19. Volumetric Modulated Arc-Based Hypofractionated Stereotactic Radiotherapy for the Treatment of Selected Intracranial Arteriovenous Malformations: Dosimetric Report and Early Clinical Experience

    SciTech Connect

    Subramanian, Sai; Srinivas, Chilukuri; Ramalingam, K.; Babaiah, M.; Swamy, S. Thirumalai; Arun, G.; Kathirvel, M.; Ashok, S.; Clivio, Alessandro; Fogliata, Antonella; Nicolini, Giorgia; Rao, K. Srinivasa; Reddy, T. Pratap; Amit, Jotwani; Vanetti, Eugenio; Cozzi, Luca

    2012-03-01

    Purpose: To evaluate, with a dosimetric and clinical feasibility study, RapidArc (a volumetric modulated arc technique) for hypofractionated stereotactic radiotherapy treatment of large arteriovenous malformations (AVMs). Methods and Materials: Nine patients were subject to multimodality imaging (magnetic resonance, computed tomography, and digital subtraction angiography) to determine nidus and target volumes, as well as involved organs at risk (optical structures, inner ear, brain stem). Plans for multiple intensity-modulated arcs with a single isocenter were optimized for a fractionation of 25 Gy in 5 fractions. All plans were optimized for 6-MV photon beams. Dose-volume histograms were analyzed to assess plan quality. Delivery parameters were reported to appraise technical features of RapidArc, and pretreatment quality assurance measurements were carried out to report on quality of delivery. Results: Average size of AVM nidus was 26.2 cm{sup 3}, and RapidArc plans provided complete target coverage with minimal overdosage (V{sub 100%} = 100% and V{sub 110%} < 1%) and excellent homogeneity (<6%). Organs at risk were highly spared. The D{sub 1%} to chiasm, eyes, lenses, optic nerves, and brainstem (mean {+-} SD) was 6.4 {+-} 8.3, 1.9 {+-} 3.8, 2.3 {+-} 2.2, 0.7 {+-} 0.9, 4.4 {+-} 7.2, 12.2 {+-} 9.6 Gy, respectively. Conformity index (CI{sub 95%}) was 2.2 {+-} 0.1. The number of monitor units per gray was 277 {+-} 45, total beam-on time was 2.5 {+-} 0.3 min. Planning vs. delivery {gamma} pass rate was 98.3% {+-} 0.9%. None of the patients developed acute toxicity. With a median follow-up of 9 months, 3 patients presented with deterioration of symptoms and were found to have postradiation changes but responded symptomatically to steroids. These patients continue to do well on follow-up. One patient developed headache and seizures, which was attributed to intracranial bleed, confirmed on imaging. Conclusion: Hypofractionated stereotactic radiotherapy can be

  20. The “focus on aneurysm” principle: Classification and surgical principles of management of concurrent arterial aneurysm with arteriovenous malformation causing intracranial hemorrhage

    PubMed Central

    Jha, Vikas; Behari, Sanjay; Jaiswal, Awadhesh K.; Bhaisora, Kamlesh Singh; Shende, Yogesh P.; Phadke, Rajendra V.

    2016-01-01

    Context: Concurrent arterial aneurysms (AAs) occurring in 2.7-16.7% patients harboring an arteriovenous malformation (AVM) aggravate the risk of intracranial hemorrhage. Aim: We evaluate the variations of aneurysms simultaneously coexisting with AVMs. A classification-based management strategy and an abbreviated nomenclature that describes their radiological features is also proposed. Setting: Tertiary care academic institute. Statistics: Test of significance applied to determine the factors causing rebleeding in the groups of patients with concurrent AVM and aneurysm and those with only AVMs. Subjects and Methods: Sixteen patients (5 with subarachnoid hemorrhage and 11 with intracerebral/intraventricular hemorrhage; 10 with low flow [LF] and 6 with high flow [HF] AVMs) underwent radiological assessment of Spetzler Martin (SM) grading and flow status of AA + AVM. Their modified Rankin's score (mRS) at admission was compared with their follow-up (F/U) score. Results: Pre-operative mRS was 0 in 5, 2 in 6, 3 in 1, 4 in 3 and 5 in 1; and, SM grade I in 5, II in 3, III in 3, IV in 4 and V in 1 patients, respectively. AA associated AVMs were classified as: (I) Flow-related proximal (n = 2); (II) flow-related distal (n = 3); (III) intranidal (n = 5); (IV) extra-intranidal (n = 2); (V) remote major ipsilateral (n = 1); (VI) remote major contralateral (n = 1); (VII) deep perforator related (n = 1); (VIII) superficial (n = 1); and (IX) distal (n = 0). Their treatment strategy included: Flow related AA, SM I-III LF AVM: aneurysm clipping with AVM excision; nidal-extranidal AA, SM I-III LF AVM: Excision or embolization of both AA + AVM; nidal-extranidal and perforator-related AA, SM IV-V HF AVM: Only endovascular embolization or radiosurgery. Surgical decision-making for remote AA took into account their ipsilateral/contralateral filling status and vessel dominance; and, for AA associated with SM III HF AVM, it varied in each patient based on diffuseness of AVM nidus, flow

  1. Imaging of Spontaneous Ventriculomegaly and Vascular Malformations in Wistar rats: implications for Preclinical Research

    PubMed Central

    Tu, Tsang-Wei; Turtzo, L. Christine; Williams, Rashida A.; Lescher, Jacob D.; Dean, Dana D.; Frank, Joseph A.

    2014-01-01

    Wistar rats are widely used in biomedical research and commonly serve as a model organism in neuroscience studies. In most cases when noninvasive imaging is not utilized, studies assume a consistent baseline condition in rats that lack visible differences. While performing a series of traumatic brain injury studies, we discovered mild spontaneous ventriculomegaly in 70/162 (43.2%) of Wistar rats that had been obtained from 2 different vendors. Advanced magnetic resonance (MR) imaging techniques, including MR angiography and diffusion tensor imaging, were utilized to evaluate the rats. Multiple neuropathologic abnormalities, including presumed arteriovenous malformations, aneurysms, cysts, white matter lesion and astrogliosis were found in association with ventriculomegaly. Postmortem micro-CT and immunohistochemical staining confirmed the presence of aneurysms and arteriovenous malformations. Diffusion tensor imaging significant decreases in fractional anisotropy and increases in mean diffusivity, axial diffusivity, and radial diffusivity in multiple white matter tracts (p < 0.05). These results could impact the interpretation, e.g. of a pseudo-increase of axon integrity and a pseudo-decrease of myelin integrity, based on characteristics intrinsic to rats with ventriculomegaly. We suggest the use of baseline imaging to prevent the inadvertent introduction of a high degree of variability in preclinical studies of neurological disease or injury in the Wistar rats. PMID:25383642

  2. Large laryngeal vascular malformation in a 5-year-old child

    PubMed Central

    Danstrup, Christian Sander; Madsen, Mette Hjørringgaard; Bille, Jesper

    2015-01-01

    A 5-year-old boy was admitted with stridor, which was initially interpreted as subglottic laryngitis. He had a history of prolonged hoarseness and his voice was deep for his age. The stridor persisted despite treatment with epinephrine inhalations and intravenous glucocorticoids. A direct laryngoscopy and blood work up did not support the suspected diagnosis. A MRI was then carried out, followed by angiography. The latter revealed an arteriovenous malformation (AVM) involving the lingual and superior thyroid arteries bilaterally. Owing to the rareness and extent of such an AVM, the patient was referred to Paris for further treatment. This case presents the difficulties in diagnostics and emphasises the importance of diagnostics and multidisciplinary approaches with regard to treatment of AVMs. PMID:25795744

  3. Proteus Syndrome with Arteriovenous Malformation

    PubMed Central

    Asilian, Ali; Kamali, Atefeh Sadat; Riahi, Nabet Tajmir; Adibi, Neda; Mokhtari, Fatemeh

    2017-01-01

    Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  4. Monro-Kellie 2.0: The dynamic vascular and venous pathophysiological components of intracranial pressure

    PubMed Central

    2016-01-01

    For 200 years, the ‘closed box’ analogy of intracranial pressure (ICP) has underpinned neurosurgery and neuro-critical care. Cushing conceptualised the Monro-Kellie doctrine stating that a change in blood, brain or CSF volume resulted in reciprocal changes in one or both of the other two. When not possible, attempts to increase a volume further increase ICP. On this doctrine’s “truth or relative untruth” depends many of the critical procedures in the surgery of the central nervous system. However, each volume component may not deserve the equal weighting this static concept implies. The slow production of CSF (0.35 ml/min) is dwarfed by the dynamic blood in and outflow (∼700 ml/min). Neuro-critical care practice focusing on arterial and ICP regulation has been questioned. Failure of venous efferent flow to precisely match arterial afferent flow will yield immediate and dramatic changes in intracranial blood volume and pressure. Interpreting ICP without interrogating its core drivers may be misleading. Multiple clinical conditions and the cerebral effects of altitude and microgravity relate to imbalances in this dynamic rather than ICP per se. This article reviews the Monro-Kellie doctrine, categorises venous outflow limitation conditions, relates physiological mechanisms to clinical conditions and suggests specific management options. PMID:27174995

  5. Crystal Structure of CCM3, a Cerebral Cavernous Malformation Protein Critical for Vascular Integrity

    SciTech Connect

    Li, X.; Zhang, R; Zhang, H; He, Y; Ji, W; Min, W; Boggon, T

    2010-01-01

    CCM3 mutations are associated with cerebral cavernous malformation (CCM), a disease affecting 0.1-0.5% of the human population. CCM3 (PDCD10, TFAR15) is thought to form a CCM complex with CCM1 and CCM2; however, the molecular basis for these interactions is not known. We have determined the 2.5 {angstrom} crystal structure of CCM3. This structure shows an all {alpha}-helical protein containing two domains, an N-terminal dimerization domain with a fold not previously observed, and a C-terminal focal adhesion targeting (FAT)-homology domain. We show that CCM3 binds CCM2 via this FAT-homology domain and that mutation of a highly conserved FAK-like hydrophobic pocket (HP1) abrogates CCM3-CCM2 interaction. This CCM3 FAT-homology domain also interacts with paxillin LD motifs using the same surface, and partial CCM3 co-localization with paxillin in cells is lost on HP1 mutation. Disease-related CCM3 truncations affect the FAT-homology domain suggesting a role for the FAT-homology domain in the etiology of CCM.

  6. Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity.

    PubMed

    Li, Xiaofeng; Zhang, Rong; Zhang, Haifeng; He, Yun; Ji, Weidong; Min, Wang; Boggon, Titus J

    2010-07-30

    CCM3 mutations are associated with cerebral cavernous malformation (CCM), a disease affecting 0.1-0.5% of the human population. CCM3 (PDCD10, TFAR15) is thought to form a CCM complex with CCM1 and CCM2; however, the molecular basis for these interactions is not known. We have determined the 2.5 A crystal structure of CCM3. This structure shows an all alpha-helical protein containing two domains, an N-terminal dimerization domain with a fold not previously observed, and a C-terminal focal adhesion targeting (FAT)-homology domain. We show that CCM3 binds CCM2 via this FAT-homology domain and that mutation of a highly conserved FAK-like hydrophobic pocket (HP1) abrogates CCM3-CCM2 interaction. This CCM3 FAT-homology domain also interacts with paxillin LD motifs using the same surface, and partial CCM3 co-localization with paxillin in cells is lost on HP1 mutation. Disease-related CCM3 truncations affect the FAT-homology domain suggesting a role for the FAT-homology domain in the etiology of CCM.

  7. Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.

    PubMed

    Vercellino, N; Nozza, P; Oddone, M; Bava, G L

    2006-07-01

    Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.

  8. BOLD fMRI integration into radiosurgery treatment planning of cerebral vascular malformations

    SciTech Connect

    Stancanello, Joseph; Cavedon, Carlo; Francescon, Paolo; Causin, Francesco; Avanzo, Michele; Colombo, Federico; Cerveri, Pietro; Ferrigno, Giancarlo; Uggeri, Fulvio

    2007-04-15

    Functional magnetic resonance imaging (fMRI) is used to distinguish areas of the brain responsible for different tasks and functions. It is possible, for example, by using fMRI images, to identify particular regions in the brain which can be considered as 'functional organs at risk' (fOARs), i.e., regions which would cause significant patient morbidity if compromised. The aim of this study is to propose and validate a method to exploit functional information for the identification of fOARs in CyberKnife (Accuray, Inc., Sunnyvale, CA) radiosurgery treatment planning; in particular, given the high spatial accuracy offered by the CyberKnife system, local nonrigid registration is used to reach accurate image matching. Five patients affected by arteriovenous malformations (AVMs) and scheduled to undergo radiosurgery were scanned prior to treatment using computed tomography (CT), three-dimensional (3D) rotational angiography (3DRA), T2 weighted and blood oxygenation level dependent echo planar imaging MRI. Tasks were chosen on the basis of lesion location by considering those areas which could be potentially close to treatment targets. Functional data were superimposed on 3DRA and CT used for treatment planning. The procedure for the localization of fMRI areas was validated by direct cortical stimulation on 38 AVM and tumor patients undergoing conventional surgery. Treatment plans studied with and without considering fOARs were significantly different, in particular with respect to both maximum dose and dose volume histograms; consideration of the fOARs allowed quality indices of treatment plans to remain almost constant or to improve in four out of five cases compared to plans with no consideration of fOARs. In conclusion, the presented method provides an accurate tool for the integration of functional information into AVM radiosurgery, which might help to minimize undesirable side effects and to make radiosurgery less invasive.

  9. What Is Vascular Disease?

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  10. Vascular Disease Foundation

    MedlinePlus

    ... Contact Us Vascular Disease What is Vascular Disease? Education and Awareness Vascular Diseases Abdominal Aortic Aneurysm Aortic Dissection Arteriovenous Malformation Atherosclerosis Buerger's Disease Carotid Artery Disease ...

  11. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

    PubMed

    Segal, Devorah; Heary, Robert F; Sabharwal, Sanjeev; Barry, Maureen T; Ming, Xue

    2016-07-01

    The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.

  12. 320-Row Detector Dynamic 4D-CTA for the Assessment of Brain and Spinal Cord Vascular Shunting Malformations. A Technical Note.

    PubMed

    D'Orazio, Federico; Splendiani, Alessandra; Gallucci, Massimo

    2014-12-01

    Shunting vascular malformations of the brain and spinal cord are traditionally studied using digital subtraction angiography (DSA), the current gold standard imaging method routinely used because of its favourable combination in terms of spatial and temporal resolution. Because DSA is relatively expensive, time-consuming and carries a risk of silent embolic events and a small risk of transient or permanent neurologic deterioration, a non-invasive alternative angiographic method is of interest. New 320 row-detector CT scanners allow volumetric imaging of the whole brain with temporal resolution up to ≌ 3 Hz. Those characteristics make computed tomography angiography (CTA) an affordable imaging method to study the haemodynamics of the whole brain and can also be applied to the study of limited portions of the spinal cord. The aim of this paper is to make a brief summary of our experience in studying shunting vascular malformation of the brain and spinal cord using dynamic 4D-CTA, explaining the technical details of the studies performed at our institution, and the state-of-the-art major advantages and drawbacks of this new technique. We found that dynamic 4D-CTA is able to depict the main architectural characteristics of previously untreated vascular shunting malformations both in brain and spinal cord (i.e. their main arterial feeders and draining veins) allowing their correct diagnosis and exhaustive classification, limiting the use of DSA for therapeutic purposes.

  13. Longitudinal MRI Evaluation of Intracranial Development and Vascular Characteristics of Breast Cancer Brain Metastases in a Mouse Model

    PubMed Central

    Zhou, Heling; Chen, Min; Zhao, Dawen

    2013-01-01

    Longitudinal MRI was applied to monitor intracranial initiation and development of brain metastases and assess tumor vascular volume and permeability in a mouse model of breast cancer brain metastases. Using a 9.4T system, high resolution anatomic MRI and dynamic susceptibility contrast (DSC) perfusion MRI were acquired at different time points after an intracardiac injection of brain-tropic breast cancer MDA-MB231BR-EGFP cells. Three weeks post injection, multifocal brain metastases were first observed with hyperintensity on T2-weighted images, but isointensity on T1-weighted post contrast images, indicating that blood-tumor-barrier (BTB) at early stage of brain metastases was impermeable. Follow-up MRI revealed intracranial tumor growth and increased number of metastases that distributed throughout the whole brain. At the last scan on week 5, T1-weighted post contrast images detected BTB disruption in 160 (34%) of a total of 464 brain metastases. Enhancement in some of the metastases was only seen in partial regions of the tumor, suggesting intratumoral heterogeneity of BTB disruption. DSC MRI measurements of relative cerebral blood volume (rCBV) showed that rCBV of brain metastases was significantly lower (mean  = 0.89±0.03) than that of contralateral normal brain (mean  = 1.00±0.03; p<0.005). Intriguingly, longitudinal measurements revealed that rCBV of individual metastases at early stage was similar to, but became significantly lower than that of contralateral normal brain with tumor growth (p<0.05). The rCBV data were concordant with histological analysis of microvascular density (MVD). Moreover, comprehensive analysis suggested no significant correlation among tumor size, rCBV and BTB permeability. In conclusion, longitudinal MRI provides non-invasive in vivo assessments of spatial and temporal development of brain metastases and their vascular volume and permeability. The characteristic rCBV of brain metastases may have a diagnostic value. PMID

  14. Real-time ultrasonography as a monitoring technique for interstitial Nd:YAG laser treatment of voluminous hemangiomas and vascular malformations

    NASA Astrophysics Data System (ADS)

    Werner, Jochen A.; Gottschlich, Stefan; Lippert, Burkard M.; Folz, Benedikt J.

    1998-01-01

    Voluminous vascular anomalies of the head and neck region are still treated with conventional surgery although Neodymium:Yttrium-Aluminum-Garnet (Nd:YAG) laser therapy is an effective treatment method. One hundred thirty give patients with voluminous hemangiomas and vascular malformations were treated with interstitial Nd:YAG laser therapy, partly complemented by a non-contact mode Nd:YAG laser light application. The vascular tumors had a diameter of more than 3 cm in two or all three dimensions. Treatment was carried out under ultrasound and manual control. Nearly 60% of the patients showed a complete clinical regression of the vascular tumor, a third of the patients had a partial regression and were satisfied with the treatment outcome. Four patients were treated unsuccessfully with the laser and three of them subsequently underwent conventional surgery. Only 10 patients showed cosmetic and functional deficits. These results on the interstitial Nd:YAG laser therapy of voluminous hemangiomas and vascular malformations in a large patient group demonstrated the high effectiveness of this novel and innovative therapy modality.

  15. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  16. Does the type and size of Amplatzer vascular plug affect the occlusion time of pulmonary arteriovenous malformations?

    PubMed Central

    Abdel-Aal, Ahmed Kamel; Massoud, Moustafa Omar; Elantably, Dina Mahmoud

    2017-01-01

    PURPOSE Occlusion time (OT) is an important factor in the treatment of pulmonary arteriovenous malformations (PAVMs) since it can lead to serious complications. The purpose of our study is to calculate the OT of Amplatzer vascular plug (AVP, St Jude Medical), and correlate it to the type of the device used (AVP or AVP 2) and the percent of device oversizing. Technical success rates and complications were also recorded. METHODS We retrospectively studied a total of 19 patients with 47 PAVMs who received percutaneous transcatheter embolization therapy using either AVP or AVP 2. We recorded the location, type, feeding artery diameter, AVP device used, and OT of each PAVM. We correlated the percent of device oversizing and the type of AVP with the OT. We also studied the rate of persistence of PAVM for both devices. RESULTS Forty-six (98%) of the PAVMs were simple. Device diameters ranged from 4.0–16.0 mm with device oversizing ranging between 14% and 120%. There was a statistically significant difference in the OT of AVP and AVP 2 (3 min 54 s vs. 5 min 30 s, P = 0.030). There was a weak positive correlation between OT and device oversizing for AVP (r=0.246, P = 0.324) and AVP 2 (r=0.261, P = 0.240). No major complications were identified. Immediate technical success rate was 100%. CONCLUSION The use of AVP 2, and increase in device oversizing were not associated with reduction in the OT of PAVMs. There was no reported difference in safety between the two devices, and no major complications were noted. PMID:27856403

  17. Systemic Expression of Vascular Endothelial Growth Factor in Patients with Cerebral Cavernous Malformation Treated by Stereotactic Radiosurgery

    PubMed Central

    Park, Sang-Jin

    2016-01-01

    Objective Increased expression of angiogenic factors, such as vascular endothelial growth factor (VEGF), is associated with the pathogenesis of cerebral cavernous malformations (CCMs). The purpose of this study was to investigate plasma levels of VEGF in normal subjects and in patients with CCM and to evaluate change in these levels following stereotactic radiosurgery (SRS). Methods Peripheral venous blood was collected from 6 patients with CCM before SRS using Gamma Knife and at the 1 week, 1 month, 3month, and 6 month follow-up visits. Plasma VEGF levels were measured using commercially available enzyme-linked immunosorbent assay kits. Peripheral blood samples were obtained from 10 healthy volunteers as controls. Results Mean plasma VEGF level of 41.9 pg/mL (range, 11.7–114.9 pg/mL) in patients with CCM at baseline was higher than that of the healthy controls (29.3 pg/mL, range, 9.2–64.3 pg/mL), without significant differences between CCM patients and controls (p=0.828). Plasma VEGF level following SRS dropped to 24.6 pg/mL after 1 week, and decreased to 18.5 pg/mL after 1 month, then increased to 24.3 pg/mL after 3 months, and 32.6 pg/mL after 6 months. Two patients suffering from rebleeding after SRS showed a higher level of VEGF at 6 months after SRS than their pretreatment level. Conclusion Plasma VEGF levels in patients with CCM were elevated over controls at baseline, and decreased from baseline to 1 month after SRS and increased further for up to 6 months. Theses results indicated that anti-angiogenic effect of SRS might play a role in the treatment of CCMs. PMID:27651861

  18. Imaging of Intracranial Hemorrhage

    PubMed Central

    Heit, Jeremy J.; Iv, Michael; Wintermark, Max

    2017-01-01

    Intracranial hemorrhage is common and is caused by diverse pathology, including trauma, hypertension, cerebral amyloid angiopathy, hemorrhagic conversion of ischemic infarction, cerebral aneurysms, cerebral arteriovenous malformations, dural arteriovenous fistula, vasculitis, and venous sinus thrombosis, among other causes. Neuroimaging is essential for the treating physician to identify the cause of hemorrhage and to understand the location and severity of hemorrhage, the risk of impending cerebral injury, and to guide often emergent patient treatment. We review CT and MRI evaluation of intracranial hemorrhage with the goal of providing a broad overview of the diverse causes and varied appearances of intracranial hemorrhage. PMID:28030895

  19. Rho kinase as a target for cerebral vascular disorders

    PubMed Central

    Bond, Lisa M; Sellers, James R; McKerracher, Lisa

    2015-01-01

    The development of novel pharmaceutical treatments for disorders of the cerebral vasculature is a serious unmet medical need. These vascular disorders are typified by a disruption in the delicate Rho signaling equilibrium within the blood vessel wall. In particular, Rho kinase overactivation in the smooth muscle and endothelial layers of the vessel wall results in cytoskeletal modifications that lead to reduced vascular integrity and abnormal vascular growth. Rho kinase is thus a promising target for the treatment of cerebral vascular disorders. Indeed, preclinical studies indicate that Rho kinase inhibition may reduce the formation/growth/rupture of both intracranial aneurysms and cerebral cavernous malformations. PMID:26062400

  20. Intracranial microvascular free flaps.

    PubMed

    Levine, Steven; Garfein, Evan S; Weiner, Howard; Yaremchuk, Michael J; Saadeh, Pierre B; Gurtner, Geoffrey; Levine, Jamie P; Warren, Stephen M

    2009-02-01

    Large acquired intracranial defects can result from trauma or surgery. When reoperation is required because of infection or tumor recurrence, management of the intracranial dead space can be challenging. By providing well-vascularized bulky tissue, intracranial microvascular free flaps offer potential solutions to these life-threatening complications. A multi-institutional retrospective chart and radiographic review was performed of all patients who underwent microvascular free-flap surgery for salvage treatment of postoperative intracranial infections between 1998 and 2006. A total of six patients were identified with large intracranial defects and postoperative intracranial infections. Four patients had parenchymal resections for tumor or seizure and two patients had posttraumatic encephalomalacia. All patients underwent operative debridement and intracranial free-flap reconstruction using the latissimus dorsi muscle (N=2), rectus abdominis muscle (N=2), or omentum (N=2). All patients had titanium (N=4) or Medpor (N=2) cranioplasties. We concluded that surgery or trauma can result in significant intracranial dead space. Treatment of postoperative intracranial infection can be challenging. Vascularized free tissue transfer not only fills the void, but also provides a delivery system for immune cells, antibodies, and systemically administered antibiotics. The early use of this technique when intracranial dead space and infection coexist is beneficial.

  1. Glomuvenous malformations.

    PubMed

    Henning, J Scott; Kovich, Olympia I; Schaffer, Julie V

    2007-01-27

    A 9-year-old girl presented with a congenital, blue-purple, partially compressible plaque with a cobblestone surface on the left lateral foot and ankle. Similar, solitary, blue nodules later appeared elsewhere on the extremities. The lesions were tender to palpation and were associated with spontaneous paroxysms of pain and paresthesias. Histopathologic evaluation of a skin biopsy specimen showed rows of glomus cells that surrounded thin-walled vascular channels, which confirmed the diagnosis of glomuvenous malformations. This autosomal dominant condition, which is due to mutations in the GLMN gene, presents with clinical findings that are distinct from those of familial, multiple, cutaneous and mucosal venous malformations. Treatment options include excision, sclerotherapy, and laser therapy (ablative or pulsed dye).

  2. Congenital Vascular Malformation

    MedlinePlus

    ... percent of all births. Yet, because of their rarity, their proper diagnosis and treatment is difficult, as ... or be the site of a type of blood clot (not the type that travel to the heart or lungs). They ...

  3. Selection of Endovascular Approach of Vein of Galen Aneurysmal Malformation

    PubMed Central

    Ito, O.; Goto, K.; Ogata, N.; Utsunomiya, H.; Sato, S.; Fukumura, A.

    2001-01-01

    Summary Vein of Galen aneurysmal malformation (VGAM) is one of the most difficult intracranial vascular lesions because this disease consists of extremely high flow shunts and affects infants and small children. Thanks to the development of various diagnostic modalities, early diagnosis became possible allowing us to prepare appropriately according to the patients' general and neurological conditions. Recent improvements of endovascular techniques and materials enabled both transarterial and transvenous approaches even to the newborn infants, widening therapeutic windows. In this article, we discuss the selection of endovascular approaches based upon angioarchitecture of VGAM presenting four representative cases from our file. PMID:20663400

  4. [Congenital anomalies of cerebral artery and intracranial aneurysm].

    PubMed

    Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

    1976-02-01

    It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

  5. Intracranial Vascular Treatments

    MedlinePlus

    ... conditions, allergies and medications you’re taking, including herbal supplements and aspirin. You may be advised to stop ... doctor all medications that you are taking, including herbal supplements, and if you have any allergies, especially to ...

  6. Intracranial Vascular Treatments

    MedlinePlus

    ... from claustrophobia. top of page What does the equipment look like? Endovascular therapy: These procedures, similar to ... tools and involving highly trained personnel. X-ray equipment, catheters and a variety of synthetic materials, medications, ...

  7. Cardiac arteriovenous malformation causing sudden death.

    PubMed

    Aguilera, Beatriz; Suárez-Mier, M Paz; Argente, Trinidad

    2004-01-01

    Cardiac vascular malformations are rare. We report a subendocardial arteriovenous malformation (AVM), associated with extensive myocardial fibrosis, causing sudden death in a 25-year-old woman. To our knowledge, this is the first autopsy case reported.

  8. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice

    PubMed Central

    Bravi, Luca; Rudini, Noemi; Cuttano, Roberto; Giampietro, Costanza; Maddaluno, Luigi; Ferrarini, Luca; Adams, Ralf H.; Corada, Monica; Boulday, Gwenola; Tournier-Lasserve, Elizabeth; Dejana, Elisabetta; Lampugnani, Maria Grazia

    2015-01-01

    Cerebral cavernous malformation (CCM) is a disease of the central nervous system causing hemorrhage-prone multiple lumen vascular malformations and very severe neurological consequences. At present, the only recommended treatment of CCM is surgical. Because surgery is often not applicable, pharmacological treatment would be highly desirable. We describe here a murine model of the disease that develops after endothelial-cell–selective ablation of the CCM3 gene. We report an early, cell-autonomous, Wnt-receptor–independent stimulation of β-catenin transcription activity in CCM3-deficient endothelial cells both in vitro and in vivo and a triggering of a β-catenin–driven transcription program that leads to endothelial-to-mesenchymal transition. TGF-β/BMP signaling is then required for the progression of the disease. We also found that the anti-inflammatory drugs sulindac sulfide and sulindac sulfone, which attenuate β-catenin transcription activity, reduce vascular malformations in endothelial CCM3-deficient mice. This study opens previously unidentified perspectives for an effective pharmacological therapy of intracranial vascular cavernomas. PMID:26109568

  9. Undersized angioplasty and stenting of symptomatic intracranial tight stenosis with Enterprise: Evaluation of clinical and vascular outcome

    PubMed Central

    Lee, Kun-Yu; Chen, David Yen-Ting; Hsu, Hui-Ling; Chen, Chi-Jen

    2015-01-01

    Background Severe intracranial arterial stenosis results in more than 10% incidence of stroke and transient ischemic attack. Using undersized angioplasty with off-label closed-cell Enterprise stent may be a feasible alternative option for treating patients with intracranial atherosclerotic disease who fail dual-antiplatelet medical therapy. The results of the authors’ study are presented in this paper. Materials and methods Between January 2013 and July 2014, 24 symptomatic patients with a total of 30 intracranial arterial stenotic lesions refractory to medical therapy, who underwent undersized angioplasty and Enterprise stenting, were retrospectively reviewed in the authors’ institution. The results evaluated include technical success rate, clinical outcome measured as modified Rankin Scale at presentation and follow-up, peri-procedural morbidity within 30 days and 1 year, and follow-up vessel patency. Results Stent deployment was successfully achieved in all stenotic lesions (30/30). Mean pre-stent and post-stent diameter residual stenosis was 81% and 18%, respectively. The peri-procedural complication rate during 30 days after stenting was 10% per lesion (3/30), including intracranial hemorrhage, in-stent thrombosis and ischemic stroke. No further thromboembolic event or complication occurred in any patient more than 30 days after stenting. Modified Rankin scale ≤ 2 was observed in 64% and 83% of patients at initial presentation and follow-up (mean 15.8 months), respectively. Imaging follow-up was available in 17 of 24 patients (70.8%) and 20 of 30 treated lesions (66.6%) with a mean follow-up period of 15.4 months. Only one asymptomatic in-stent restenosis occurred in 20 available lesions (5.0%). Conclusion This preliminary study suggests that using undersized angioplasty and Enterprise stenting may effectively treat high-degree symptomatic intracranial arterial stenosis with favorable clinical and angiographic outcome. PMID:26542728

  10. MR imaging of cerebrospinal fluid dynamics in health and disease. On the vascular pathogenesis of communicating hydrocephalus and benign intracranial hypertension.

    PubMed

    Greitz, D; Hannerz, J; Rähn, T; Bolander, H; Ericsson, A

    1994-05-01

    The CSF flows in the aqueduct and at the foramen magnum were examined in 5 patients with communicating hydrocephalus (HC) and in 10 with benign intracranial hypertension (BIH) as well as in 5 healthy volunteers. As compared to normal individuals, the aqueductal flow in HC was about 10 times larger and the cervical flow was half as large. In BIH the CSF flows were not different from those of normal volunteers. The decreased arterial expansion as reflected in the reduced cervical flow in HC may be due to pathologic changes in the arteries and paravascular spaces. The large aqueductal flow in HC reflects a large brain expansion, causing increased transcerebral mantle pressure gradient and ventricular dilatation. In BIH there is a normal brain expansion (aqueductal flow) and consequently no ventricular dilatation. It is argued that BIH be caused by an obstruction on the venous side, as opposed to the vascular alterations in HC, which are on the arterial side.

  11. A locus for cerebral cavernous malformations maps to chromosome 7q in two families

    SciTech Connect

    Marchuk, D.A.; Gallione, C.J.; Morrison, L.A.; Davis, L.E.; Clericuzio, C.L.

    1995-07-20

    Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 ({theta} of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21. 16 refs., 3 figs., 1 tab.

  12. [Intraoperative fluid therapy in infants with congestive heart failure due to intracranial pial arteriovenous fistula].

    PubMed

    Arroyo-Fernández, F J; Calderón-Seoane, E; Rodríguez-Peña, F; Torres-Morera, L M

    2016-05-01

    Pial arteriovenous fistula is a rare intracranial congenital malformation (0.1-1: 100,000). It has a high blood flow between one or more pial arteries and drains into the venous circulation. It is usually diagnosed during the childhood by triggering an intracranial hypertension and/or congestive heart failure due to left-right systemic shunt. It is a rare malformation with a complex pathophysiology. The perioperative anaesthetic management is not well established. We present a 6-month-old infant diagnosed with pial arteriovenous fistula with hypertension and congestive heart failure due to left-right shunt. He required a craniotomy and clipping of vascular malformation. Anaesthetic considerations in patients with this condition are a great challenge. It must be performed by multidisciplinary teams with experience in paediatrics. The maintenance of blood volume during the intraoperative course is very important. Excessive fluid therapy can precipitate a congestive heart failure or intracranial hypertension, and a lower fluid therapy may cause a tissue hypoxia due to the bleeding.

  13. Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies

    ClinicalTrials.gov

    2015-02-03

    Kaposiform Hemangioendotheliomas; Tufted Angioma; Capillary Venous Lymphatic Malformation; Venous Lymphatic Malformation; Microcystic Lymphatic Malformation; Mucocutaneous Lymphangiomatosis and Thrombocytopenia; Capillary Lymphatic Arterial Venous Malformations; PTEN Overgrowth Syndrome With Vascular Anomaly; Lymphangiectasia Syndromes

  14. Endovascular Balloon-Assisted Embolization of Intracranial and Cervical Arteriovenous Malformations Using Dual Lumen Co-axial Balloon Microcatheters and Onyx: Initial Experience.

    PubMed

    Jagadeesan, Bharathi D; Grigoryan, Mikayel; Hassan, Ameer E; Grande, Andrew W; Tummala, Ramachandra P

    2013-02-25

    BACKGROUND:: Ethylene vinyl alcohol co-polymer (Onyx) is widely used for the embolization of arteriovenous malformations of the brain, head, and neck. Balloon-assisted Onyx embolization may provide additional unique advantages in the treatment of AVMs when compared to traditional catheter-based techniques. OBJECTIVE:: To report our initial experience in performing balloon-assisted AVM embolization for brain and neck AVMs using the new Scepter-C and Scepter-XC co-axial dual lumen balloon microcatheters. METHODS:: Balloon-assisted trans-arterial embolization was carried out in a series of seven patients with AVMs (4 with brain AVMs, one with a dural AVF, and two with neck AVMs) using Onyx delivered through the lumen of Scepter-C or Scepter XC co-axial balloon microcatheters. Following the initial balloon-catheter navigation into a feeding artery and the subsequent inflation of the balloon, the embolization was performed using Onyx 18, Onyx 34, or both. RESULTS:: A total of twelve embolization sessions were performed via 17 arterial feeders in these 7 patients. In one patient, there was an arterial perforation from inflation of the balloon; in all others, the embolization goals were successfully achieved with no adverse events. CONCLUSION:: The balloon microcatheters showed excellent navigability, and there were no problems with retrieval or with the repeated inflation and deflation of the balloons. A proximal Onyx plug, which is crucial in many AVM embolizations, was not necessary with this technique. Additionally, fluoroscopy and procedural times seemed lower with this technique compared to conventional embolization methods.

  15. Rapid growth of an infectious intracranial aneurysm with catastrophic intracranial hemorrhage.

    PubMed

    Koffie, Robert M; Stapleton, Christopher J; Torok, Collin M; Yoo, Albert J; Leslie-Mazwi, Thabele M; Codd, Patrick J

    2015-03-01

    Infectious intracranial aneurysms are rare vascular lesions that classically occur in patients with infective endocarditis. We present a 49-year-old man with altered mental status and headache with rapid growth and rupture of an infectious intracranial aneurysm with catastrophic intracranial hemorrhage, and review issues related to open neurosurgical and endovascular interventions.

  16. The relationship of cortical folding and brain arteriovenous malformations

    PubMed Central

    Shah, Manish N.; Smith, Sarah E.; Dierker, Donna L.; Herbert, Joseph P.; Coalson, Timothy S.; Bruck, Brent S.; Zipfel, Gregory J.; Van Essen, David C.; Dacey, Ralph G.

    2016-01-01

    Background The pathogenesis of human intracranial arteriovenous malformations (AVMs) is not well understood; this study aims to quantitatively assess cortical folding in patients with these lesions. Methods Seven adult participants, 4 male and 3 female, with unruptured, surgically unresectable intracranial AVMs were prospectively enrolled in the study, with a mean age of 42.1 years and Spetzler-Martin grade range of II–IV. High-resolution brain MRI T1 and T2 sequences were obtained. After standard preprocessing, segmentation and registration techniques, three measures of cortical folding, the depth difference index (DDI), coordinate distance index (CDI) and gyrification index (GI)), were calculated for the affected and unaffected hemispheres of each subject as well as a healthy control subject set. Results Of the three metrics, CDI, DDI and GI, used for cortical folding assessment, none demonstrated significant differences between the participants and previously studied healthy adults. There was a significant negative correlation between the DDI ratio between affected and unaffected hemispheres and AVM volume (correlation coefficient r = −0.74, p = 0.04). Conclusion This study is the first to quantitatively assess human brain cortical folding in the presence of intracranial AVMs and no significant differences between AVM-affected versus unaffected hemispheres were found in a small dataset. We suggest longitudinal, larger human MRI-based cortical folding studies to assess whether AVMs are congenital lesions of vascular development or de novo, dynamic lesions. PMID:28009020

  17. Supernova hemorrhage: obliterative hemorrhage of brain arteriovenous malformations following γ knife radiosurgery.

    PubMed

    Alexander, Matthew D; Hetts, Steven W; Young, William L; Halbach, Van V; Dowd, Christopher F; Higashida, Randall T; English, Joey D

    2012-09-01

    Hemorrhage represents the most feared complication of cerebral arteriovenous malformations (AVMs) in both untreated patients and those treated with gamma knife radiosurgery. Radiosurgery does not immediately lead to obliteration of the malformation, which often does not occur until years following treatment. Post-obliteration hemorrhage is rare, occurring months to years after radiosurgery, and has been associated with residual or recurrent AVM despite prior apparent nidus elimination. Three cases are reported of delayed intracranial hemorrhage in patients with cerebral AVMs treated with radiosurgery in which no residual AVM was found on catheter angiography at the time of delayed post-treatment hemorrhage. That the pathophysiology of these hemorrhages involves progressive venous outflow occlusion is speculated and the possible mechanistic link to subsequent vascular rupture is discussed.

  18. Idiopathic intracranial hypertension in children: Diagnostic and management approach

    PubMed Central

    Hamad, Muddathir H; Alwadei, Ali H; Bashiri, Fahad A; Hassan, Hamdy H; Idris, Hiyam; Hassan, Saeed; Muayqil, Taim; Altweijri, Ikhlass; Salih, Mustafa A

    2016-01-01

    Idiopathic intracranial hypertension (IIH) is a rare neurological disorder in children. It is characterized by raised intracranial pressure (ICP) in the absence of brain parenchymal lesion, vascular malformations, hydrocephalus, or central nervous system (CNS) infection. The diagnosis is usually confirmed by high opening pressure of cerebrospinal fluid (CSF) with exclusion of secondary causes of intracranial hypertension. If not treated properly, it may lead to severe visual dysfunction. Here we review the etiology, clinical presentation, diagnostic criteria and management of IIH in children through illustration of the clinical and radiological presentation of a 13-year-old overweight girl who presented with severe headache, diplopia and bilateral papilledema. Otherwise, she had unremarkable neurological and systemic examinations. Lumbar puncture showed a high CSF opening pressure (360–540 mmH2O). Her investigations showed normal complete blood count (CBC), normal renal, liver, and thyroid function tests. Cerebrospinal fluid (CSF) and blood chemistry were unremarkable. Magnetic resonant image (MRI) of the brain demonstrated empty sella turcica, tortuous optic nerves, and flattening of the posterior sclera. Magnetic resonant venography (MRV) showed focal narrowing of the distal transverse sinuses and absence of venous sinus thrombosis. She required treatment with acetazolamide and prednisolone. With medical treatment, weight reduction, and exercise, our patient had a remarkable improvement in her symptoms with resolution of papilledema in two months. This review highlights the importance of early recognition and management of IIH to prevent permanent visual loss. PMID:28096561

  19. Brain Malformations

    MedlinePlus

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  20. A Japanese pedigree of familial cerebral cavernous malformations--a case report.

    PubMed

    Imada, Yasutaka; Yuki, Kiyoshi; Migita, Keisuke; Sadatomo, Takashi; Kuwabara, Masashi; Yamada, Toru; Kurisu, Kaoru

    2014-12-01

    Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene.

  1. The ACVRL1 c.314-35A>G Polymorphism is Associated with Organ Vascular Malformations in Hereditary Hemorrhagic Telangiectasia Patients with ENG Mutations, but not in Patients with ACVRL1 Mutations

    PubMed Central

    Pawlikowska, Ludmila; Nelson, Jeffrey; Guo, Diana E.; McCulloch, Charles E.; Lawton, Michael T.; Young, William L.; Kim, Helen; Faughnan, Marie E.

    2015-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of vascular malformations (VMs) and caused by mutations in TGFβ/BMP9 pathway genes, most commonly ENG or ACVRL1. Patients with HHT have diverse phenotypes related to skin and mucosal telangiectases and organ VMs, including arteriovenous malformations (AVM). The clinical heterogeneity of HHT suggests a potential role for genetic modifier effects. We hypothesized that the common polymorphisms ACVRL1 c.314-35A>G and ENG c.207G>A, previously associated with sporadic brain AVM, are also associated with organ VM in HHT. We genotyped ACVRL1 c.314-35A>G and ENG c.207G>A in 716 patients with HHT recruited by the Brain Vascular Malformation Consortium and evaluated association of genotype with presence of any organ VM, and specifically with brain VM, liver VM and pulmonary AVM, by multivariate logistic regression analyses stratified by HHT mutation. Among all patients with HHT, neither polymorphism was significantly associated with presence of any organ VM; ACVRL1 c.314-35A>G showed a trend toward association with pulmonary AVM (OR=1.48, p=0.062). ACVRL1 c.314-35A>G was significantly associated with any VM among patients with HHT with ENG (OR=2.66, p=0.022), but not ACVRL1 (OR=0.79, p=0.52) mutations. ACVRL1 c.314-35A>G was also significantly associated with pulmonary AVM and liver VM among ENG mutation carriers. There were no significant associations between ENG c.207G>A and any VM phenotype. These results suggest that common polymorphisms in HHT genes other than the mutated gene modulate phenotype severity of HHT disease, specifically presence of organ VM. PMID:25847705

  2. Arteriovenous malformation of the uterus.

    PubMed

    Dodia, Nazera; George, Suku

    2015-09-17

    We present the case of a 54-year-old woman with intermittent right-sided abdominal pain. Ultrasound scans showed an unusual vascular appearance of the uterus with a thinned endometrium. Contrast CT led to a strong suspicion of an arteriovenous malformation of the uterus. The patient was successfully treated with a hysterectomy with salpingo-oophorectomy.

  3. Intracranial hypertension: classification and patterns of evolution

    PubMed Central

    Iencean, SM

    2008-01-01

    Intracranial hypertension (ICH) was systematized in four categories according to its aetiology and pathogenic mechanisms: parenchymatous ICH with an intrinsic cerebral cause; vascular ICH, which has its aetiology in disorders of cerebral blood circulation; ICH caused by disorders of cerebro–spinal fluid dynamics and idiopathic ICH. The increase of intracranial pressure is the first to happen and then intracranial hypertension develops from this initial effect becoming symptomatic; it then acquires its individuality, surpassing the initial disease. The intracranial hypertension syndrome corresponds to the stage at which the increased intracranial pressure can be compensated and the acute form of intracranial hypertension is equivalent to a decompensated ICH syndrome. The decompensation of intracranial hypertension is a condition of instability and appears when the normal intrinsic ratio of intracranial pressure – time fluctuation is changed. The essential conditions for decompensation of intracranial hypertension are: the speed of intracranial pressure increase over normal values, the highest value of abnormal intracranial pressure and the duration of high ICP values. Medical objectives are preventing ICP from exceeding 20 mm Hg and maintaining a normal cerebral blood flow. The emergency therapy is the same for the acute form but each of the four forms of ICH has a specific therapy, according to the pathogenic mechanism and if possible to aetiology. PMID:20108456

  4. Inner Ear Conductive Hearing Loss and Unilateral Pulsatile Tinnitus Associated with a Dural Arteriovenous Fistula: Case Based Review and Analysis of Relationship between Intracranial Vascular Abnormalities and Inner Ear Fluids

    PubMed Central

    Cassandro, Ettore; Cassandro, Claudia; Sequino, Giuliano; Scarpa, Alfonso; Petrolo, Claudio; Chiarella, Giuseppe

    2015-01-01

    While pulsatile tinnitus (PT) and dural arteriovenous fistula (DAVF) are not rarely associated, the finding of a conductive hearing loss (CHL) in this clinical picture is unusual. Starting from a case of CHL and PT, diagnosed to be due to a DAVF, we analyzed relationship between intracranial vascular abnormalities and inner ear fluids. DAVF was treated with endovascular embolization. Following this, there was a dramatic recovery of PT and of CHL, confirming their cause-effect link with DAVF. We critically evaluated the papers reporting this association. This is the first case of CHL associated with PT and DAVF. We describe the most significant experiences and theories reported in literature, with a personal analysis about the possible relationship between vascular intracranial system and labyrinthine fluids. In conclusion, we believe that this association may be a challenge for otolaryngologists. So we suggest to consider the possibility of a DAVF or other AVMs when PT is associated with CHL, without alterations of tympanic membrane and middle ear tests. PMID:26693371

  5. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  6. Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.

    PubMed

    Wang, Anthony C; Gemmete, Joseph J; Keegan, Catherine E; Witt, Cordelie E; Muraszko, Karin M; Than, Khoi D; Maher, Cormac O

    2011-11-01

    Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.

  7. Congenital plaque-type glomuvenous malformation associated with chylous ascites.

    PubMed

    Tejedor, Maria; Martín-Santiago, Ana; Gómez, Cristina; Fiol, Miquel; Benítez-Segura, Ignacio

    2010-01-01

    Congenital plaque-type glomuvenous malformation (GVM) is caused by loss of function mutations in glomulin gene. We report a newborn with this rare vascular disorder associated with chylous ascites. The common mesenchymal origin of GVM and lymphatic vessels as well as the glomulin expression in vascular smooth muscle cells in utero could help explain this unusual prenatal complication of glomuvenous malformations.

  8. Glomuvenous malformation: magnetic resonance imaging findings.

    PubMed

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA.

  9. Rare malformation of glans penis: arteriovenous malformation.

    PubMed

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  10. [Prolonged hypothermia in refractory intracranial hypertension. Report of one case].

    PubMed

    Rovegno, Maximiliano; Valenzuela, José Luis; Mellado, Patricio; Andresen, Max

    2012-02-01

    The use of hypothermia after cardiac arrest caused by ventricular fibrillation is a standard clinical practice, however its use for neuroprotection has been extended to other conditions. We report a 23-year-old male with intracranial hypertension secondary to a parenchymal hematoma associated to acute hydrocephalus. An arterial malformation was found and embolized. Due to persistent intracranial hypertension, moderate hypothermia with a target temperature of 33°C was started. After 12 hours of hypothermia, intracranial pressure was controlled. After 13 days of hypothermia a definitive control of intracranial pressure was achieved. The patient was discharged 40 days after admission, remains with a mild hemiparesia and is reassuming his university studies.

  11. Venous malformations: classification, development, diagnosis, and interventional radiologic management.

    PubMed

    Legiehn, Gerald M; Heran, Manraj K S

    2008-05-01

    Venous malformations are categorized as low-flow vascular malformations within the domain of vascular anomalies and are the most common vascular malformation encountered clinically. Venous malformations are by definition present at birth, undergo pari passu growth, and present clinically because of symptoms related to mass effect or stasis. Although diagnosis can usually be made by clinical history and examination, differentiation from other vascular and nonvascular entities often requires an imaging work-up that includes ultrasound, CT, MR imaging, and diagnostic phlebography. All decisions regarding imaging work-up and decision to treat must be coordinated though referral and discussions with a multidisciplinary team and be based on clearly defined clinical indications. Percutaneous image-guided sclerotherapy has become the mainstay of treatment for venous malformations and involves the introduction of any one of a number of endothelial-cidal sclerosants into the vascular spaces of the lesion, with each sclerosant possessing its own unique spectrum of advantages and disadvantages.

  12. Notch receptor expression in human brain arteriovenous malformations.

    PubMed

    Hill-Felberg, Sandra; Wu, Hope Hueizhi; Toms, Steven A; Dehdashti, Amir R

    2015-08-01

    The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that compared to normal brain vascular tissue Notch-3 was dramatically increased in brain arteriovenous malformations. Similarly, Notch 4 labelling was also increased in vascular malformations and was confirmed by western blot analysis. Notch 2 was not detectable in any of the human vessels analysed. Using both immunohistochemistry on microarrays and western blot analysis, we have found that Notch-1 expression was detectable in control vessels, and discovered a significant decrease of Notch 1 expression in vascular malformations. We have demonstrated that Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations. Our findings suggested that Notch 4, and more importantly, Notch 3, may play a role in the development and pathobiology of human arteriovenous malformations.

  13. Intracranial Arteries - Anatomy and Collaterals.

    PubMed

    Liebeskind, David S; Caplan, Louis R

    2016-01-01

    Anatomy, physiology, and pathophysiology are inextricably linked in patients with intracranial atherosclerosis. Knowledge of abnormal or pathological conditions such as intracranial atherosclerosis stems from detailed recognition of the normal pattern of vascular anatomy. The vascular anatomy of the intracranial arteries, both at the level of the vessel wall and as a larger structure or conduit, is a reflection of physiology over time, from in utero stages through adult life. The unique characteristics of arteries at the base of the brain may help our understanding of atherosclerotic lesions that tend to afflict specific arterial segments. Although much of the knowledge regarding intracranial arteries originates from pathology and angiography series over several centuries, evolving noninvasive techniques have rapidly expanded our perspective. As each imaging modality provides a depiction that combines anatomy and flow physiology, it is important to interpret each image with a solid understanding of typical arterial anatomy and corresponding collateral routes. Compensatory collateral perfusion and downstream flow status have recently emerged as pivotal variables in the clinical management of patients with atherosclerosis. Ongoing studies that illustrate the anatomy and pathophysiology of these proximal arterial segments across modalities will help refine our knowledge of the interplay between vascular anatomy and cerebral blood flow. Future studies may help elucidate pivotal arterial factors far beyond the degree of stenosis, examining downstream influences on cerebral perfusion, artery-to-artery thromboembolic potential, amenability to endovascular therapies and stent conformation, and the propensity for restenosis due to biophysical factors.

  14. Hemorrhage Rates From Brain Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia Patients

    PubMed Central

    Kim, Helen; Nelson, Jeffrey; Krings, Timo; terBrugge, Karel G.; McCulloch, Charles E.; Lawton, Michael T.; Young, William L.; Faughnan, Marie E.

    2015-01-01

    Background and Purpose Hereditary hemorrhagic telangiectasia (HHT) is a systemic disease characterized by mucocutaneous telangiectasias, epistaxis, and arteriovenous malformations (AVM). Intracranial hemorrhage (ICH) rates in this population are not well described. We report ICH rates and characteristics in HHT patients with brain arteriovenous malformations (HHT-BAVM). Methods We studied the first 153 HHT-BAVM patients with follow-up data enrolled in the Brain Vascular Malformation Consortium HHT Project. We estimated ICH rates after BAVM diagnosis. Results The majority of patients were female (58%) and Caucasian (98%). The mean age at BAVM diagnosis was 31±19 years (range: 0–70), with 61% of cases diagnosed upon asymptomatic screening. Overall, 14% presented with ICH; among symptomatic cases, 37% presented ruptured. During 493 patient-years of follow-up, 5 ICH events occurred yielding a rate of 1.02% per-year (95% CI: 0.42–2.44%). ICH-free survival differed significantly by ICH presentation (P=0.003); ruptured cases had a higher ICH rate (10.07%, 95% CI: 3.25–31.21%) than unruptured cases (0.43%, 95% CI: 0.11–1.73%). Conclusions HHT-BAVM patients who present with hemorrhage are at a higher risk for re-hemorrhage compared to BAVMs detected pre-symptomatically. PMID:25858236

  15. Effectiveness of 2-methoxyestradiol in alleviating angiogenesis induced by intracranial venous hypertension.

    PubMed

    Zou, Xiang; Zhou, Liangfu; Zhu, Wei; Mao, Ying; Chen, Liang

    2016-09-01

    OBJECT Intracranial dural arteriovenous fistulas (DAVFs) are complex intracranial vascular malformations that can lead to hemorrhage. The authors recently found that chronic local hypoperfusion seems to be the main cause of angiogenesis in the dura mater, which leads to the formation of DAVFs. As a natural derivative of estradiol, 2-methoxyestradiol (2-ME) has an antiangiogenic effect and can be used safely in patients with advanced carcinoid tumors. This study was conducted to examine the antiangiogenic effects of 2-ME on a rat DAVF model. METHODS Male Sprague-Dawley rats (n = 72) were used in the experiments. Intracranial venous hypertension was induced for modeling, and 2-ME was used in the early or late stage for treatment. The effects were examined by immunohistochemistry, Western blot analysis, and quantitative real-time polymerase chain reaction assays. RESULTS 2-Methoxyestradiol significantly reduced angiogenesis in the dura in early- and late-intervention treatment groups, as proven by the results of immunohistochemical staining, Western blotting, real-time polymerase chain reaction assays, and microvessel density counts. The antiangiogenic effect even lasted for up to 2 weeks after 2-ME cessation. CONCLUSIONS These data collectively suggest that 2-ME can reduce the angiogenic effect caused by venous hypertension in a rat DAVF model, mainly by suppressing the inhibitor of differentiation 1 (ID-1) and hypoxia-inducible factor 1α (HIF-1α) pathways.

  16. Venous malformations: clinical diagnosis and treatment

    PubMed Central

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W.; Khademhosseini, Ali

    2016-01-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies. PMID:28123976

  17. [Pathogenesis and genetics of vascular anomalies].

    PubMed

    Vikkula, M

    2006-01-01

    Vascular anomalies, divided into vascular tumors and vascular malformations, are localized defects of angiogenesis. Hemangiomas appear soon after birth, grow quickly, and then spontaneously, but slowly, disappear. In contrast, vascular malformations are congenital defects of vascular development that grow proportionately with the child. Most vascular anomalies are considered non-hereditary. However, due to detailed analysis inherited forms have been observed, which has led to identify mutations in three genes causing familial vascular malformations: in the angiopoietin receptor TIE2 in mucocutaneous venous malformations (VMCM), in glomulin in glomuvenous malformations (GVM) and in RASA1 in the newly recognized phenotype capillary malformation-arteriovenous malformation (CM-AVM). Identification of the causative genes has permitted more precise diagnosis and differential diagnosis, evaluation of phenotypic variability among patients with a proven mutation, study of used treatments in more homogeneous patient groups, and elucidation of the etiopathogenic mechanisms behind vascular malformations. Further studies are needed to unravel the role of genetic variations in the various vascular malformations and to unravel the precise molecular mechanisms that lead to development of these vascular lesions. This should provide development of new-targeted therapies.

  18. Disappearance of a small intracranial aneurysm as a result of vessel straightening and in-stent stenosis following use of an Enterprise vascular reconstruction device.

    PubMed

    Takemoto, Koichiro; Tateshima, Satoshi; Rastogi, Sachin; Gonzalez, Nestor; Jahan, Reza; Duckwiler, Gary; Vinuela, Fernando

    2013-01-17

    In-stent stenosis after stent-assisted coil embolization is a rare but well-known complication. A 32-year-old woman with an unruptured wide-necked left internal carotid artery (ICA) terminus aneurysm and an ipsilateral very small anterior choroidal artery aneurysm underwent stent-assisted coil embolization for the ICA terminus aneurysm. The 4-month follow-up angiography revealed diffuse in-stent stenosis and disappearance of the untreated anterior choroidal artery aneurysm, retaining the patency of the anterior choroidal artery. To our knowledge, this is the first report to demonstrate the course of in-stent stenosis and disappearance of an untreated small intracranial aneurysm as a result. We report this unique case and discuss the interesting mechanism underlying this phenomenon, and also provide a review of the relevant literature.

  19. Disappearance of a small intracranial aneurysm as a result of vessel straightening and in-stent stenosis following use of an Enterprise vascular reconstruction device.

    PubMed

    Takemoto, Koichiro; Tateshima, Satoshi; Rastogi, Sachin; Gonzalez, Nestor; Jahan, Reza; Duckwiler, Gary; Vinuela, Fernando

    2014-01-01

    In-stent stenosis after stent-assisted coil embolization is a rare but well-known complication. A 32-year-old woman with an unruptured wide-necked left internal carotid artery (ICA) terminus aneurysm and an ipsilateral very small anterior choroidal artery aneurysm underwent stent-assisted coil embolization for the ICA terminus aneurysm. The 4-month follow-up angiography revealed diffuse in-stent stenosis and disappearance of the untreated anterior choroidal artery aneurysm, retaining the patency of the anterior choroidal artery. To our knowledge, this is the first report to demonstrate the course of in-stent stenosis and disappearance of an untreated small intracranial aneurysm as a result. We report this unique case and discuss the interesting mechanism underlying this phenomenon, and also provide a review of the relevant literature.

  20. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

    PubMed

    Niwa, Tetsu; de Vries, Linda S; Manten, Gwendolyn T R; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-04-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD: two infants with nodular interhemispheric lipoma, agenesis of the corpus callosum, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias. An association was suggested regarding the occurrence of these malformations.

  1. Intracranial calcified pseudocyst reaction to a shunt catheter.

    PubMed

    Yowtak, June; Hughes, Douglas; Heger, Ian; Macomson, Samuel D

    2014-02-01

    A 9-year-old boy with spina bifida, Chiari II malformation, and hydrocephalus presented with signs of increased intracranial pressure consistent with a shunt malfunction. Radiological investigations revealed an intracranial calcified lesion along the ventricular catheter. A shunt tap revealed a translucent milky white fluid. The patient underwent a ventriculostomy and, eventually, a shunt revision. Pathology findings were consistent with the formation of dystrophic calcification and a pseudocyst around the shunt catheter. Postoperatively, the patient returned to his neurological baseline. This is, to the best of the authors' knowledge, the first report of an intracranial calcified pseudocyst in a patient with normal renal function.

  2. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  3. Anorectal malformations

    PubMed Central

    Levitt, Marc A; Peña, Alberto

    2007-01-01

    Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life. PMID:17651510

  4. Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.

    PubMed

    Whitworth, James; Stausbøl-Grøn, Brian; Skytte, Anne-Bine

    2017-01-01

    When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed.

  5. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  6. Vascular anomalies in children.

    PubMed

    Weibel, L

    2011-11-01

    Vascular anomalies are divided in two major categories: tumours (such as infantile hemangiomas) and malformations. Hemangiomas are common benign neoplasms that undergo a proliferative phase followed by stabilization and eventual spontaneous involution, whereas vascular malformations are rare structural anomalies representing morphogenetic errors of developing blood vessels and lymphatics. It is important to properly diagnose vascular anomalies early in childhood because of their distinct differences in morbidity, prognosis and need for a multidisciplinary management. We discuss a number of characteristic clinical features as clues for early diagnosis and identification of associated syndromes.

  7. A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage.

    PubMed

    Supakul, Nucharin; Fan, Rong; Karmazyn, Boaz

    2012-12-01

    Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting. The child had diffuse intraparenchymal hemorrhage throughout the right lower and middle lobes and underwent resection. Pathology confirmed the diagnosis of venous malformation complicated with bleeding.

  8. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    PubMed

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J

    1998-01-24

    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  9. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

    PubMed

    Spiegler, Stefanie; Kirchmaier, Bettina; Rath, Matthias; Korenke, G Christoph; Tetzlaff, Fabian; van de Vorst, Maartje; Neveling, Kornelia; Acker-Palmer, Amparo; Kuss, Andreas W; Gilissen, Christian; Fischer, Andreas; Schulte-Merker, Stefan; Felbor, Ute

    2016-07-01

    Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3. A yeast 2-hybrid screen revealed interactions of FAM222B with the tubulin cytoskeleton and STAMBP which is known to be associated with microcephaly-capillary malformation syndrome. However, a phenotype similar to existing models was not found, neither in fam222bb/fam222ba double mutant zebrafish generated by transcription activator-like effector nucleases nor in an in vitro sprouting assay using human umbilical vein endothelial cells transfected with siRNA against FAM222B. These observations led to the assumption that aberrant FAM222B is not involved in the formation of CCMs.

  10. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

    PubMed Central

    Spiegler, Stefanie; Kirchmaier, Bettina; Rath, Matthias; Korenke, G. Christoph; Tetzlaff, Fabian; van de Vorst, Maartje; Neveling, Kornelia; Acker-Palmer, Amparo; Kuss, Andreas W.; Gilissen, Christian; Fischer, Andreas; Schulte-Merker, Stefan; Felbor, Ute

    2016-01-01

    Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3. A yeast 2-hybrid screen revealed interactions of FAM222B with the tubulin cytoskeleton and STAMBP which is known to be associated with microcephaly-capillary malformation syndrome. However, a phenotype similar to existing models was not found, neither in fam222bb/fam222ba double mutant zebrafish generated by transcription activator-like effector nucleases nor in an in vitro sprouting assay using human umbilical vein endothelial cells transfected with siRNA against FAM222B. These observations led to the assumption that aberrant FAM222B is not involved in the formation of CCMs. PMID:27587990

  11. Management of Intracranial Hypertension

    PubMed Central

    Rangel-Castillo, Leonardo; Gopinath, Shankar; Robertson, Claudia S.

    2008-01-01

    Effective management of intracranial hypertension involves meticulous avoidance of factors that precipitate or aggravate increased intracranial pressure. When intracranial pressure becomes elevated, it is important to rule out new mass lesions that should be surgically evacuated. Medical management of increased intracranial pressure should include sedation, drainage of cerebrospinal fluid, and osmotherapy with either mannitol or hypertonic saline. For intracranial hypertension refractory to initial medical management, barbiturate coma, hypothermia, or decompressive craniectomy should be considered. Steroids are not indicated and may be harmful in the treatment of intracranial hypertension resulting from traumatic brain injury. PMID:18514825

  12. Management strategies for neoplastic and vascular brain lesions presenting during pregnancy: A series of 29 patients

    PubMed Central

    Pereira, Celestino Esteves; Lynch, Jose Carlos

    2017-01-01

    Background: The occurrence of a brain tumor or intracranial vascular lesion during pregnancy is a rare event, but when it happens, it jeopardizes the lives of both the mother and infant. It also creates challenges of a neurosurgical, obstetric, and ethical nature. A multidisciplinary approach should be used for their care. Methods: Between 1986 and 2015, 12 pregnant women diagnosed with brain tumors and 17 women with intracranial vascular lesion underwent treatment at the Neurosurgery Department of the Servidores do Estado Hospital and Rede D’Or/São Luis. The Neurosurgery Department teamed up with Obstetrics Anesthesiology Departments in establishing the procedures. The patients’ records, surgical descriptions, imaging studies, and histopathological material were reviewed. Results: Among 12 patients presenting with brain tumors, there were neither operative mortality nor fetal deaths. Among the vascular lesions, aneurysm rupture was responsible for bleeding in 6 instances. Arteriovenous malformation was diagnosed in 7 patients. In this subgroup, the maternal and fetal mortality rates were 11.7% and 23.7%, respectively. Conclusions: We can assert that the association between a brain tumor and vascular lesions with pregnancy is a very unusual event, which jeopardizes both the lives of the mother and infant. It remains incompletely characterized due to the rare nature of these potentially devastating events. Knowing the exact mechanism responsible for the interaction of pregnancy and with these lesions will improve the treatment of these patients. PMID:28303207

  13. [Treatments strategies for intracranial cavernomas].

    PubMed

    Stienen, Martin N; Bijlenga, Philippe; Schaller, Karl; Hildebrandt, Gerhard; Gautschi, Oliver P

    2014-11-26

    Cerebral cavernomatous malformations (CCM) are a subgroup of low-pressure cerebral vascular malformation. They have an estimated prevalence of 0,1-4% of the population and account for 8-15% of all cerebral vascular malformations. Depending on their size and localization (supratentorial or infratentorial, brain stem), CCM may present with focal bleedings with or without neurological deficits, as epileptic seizures, or are diagnosed incidentally by MRI performed for unspecific symptoms (e.g. headache, vertigo), especially in younger patients (mostly in 2nd or 3rd decade). The decision-making in patients with CCM can be classified into four categories: surgical or conservative treatment of symptomatic or incidental lesions. The decision regarding the optimal therapy in the individual patient must be made in the knowledge of the natural history (risk for bleeding or epilepsy) on the one hand, and the surgical possibilities (accessibility of the lesion) including their estimated outcome on the other hand. Therefore, careful patient selection and appropriate experience of the centre is warranted in the management of CCM.

  14. Chiari-I malformation in two fighter pilots.

    PubMed

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F

    2003-07-01

    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  15. Multifocal vascular lesions.

    PubMed

    Levin, Laura E; Lauren, Christine T

    2016-09-01

    Multifocal vascular lesions are important to recognize and appropriately diagnose. Generally first noticed on the skin, multifocal vascular lesions may have systemic involvement. Distinguishing among the different types of multifocal vascular lesions is often based on clinical features; however, radiological imaging and/or biopsy are frequently needed to identify distinct features and guide treatment. Knowledge of the systemic associations that can occur with different vascular anomalies may reduce life-threatening complications, such as coagulopathy, bleeding, cardiac compromise, and neurologic sequelae. This review provides a synopsis of the epidemiology, pathogenesis, presentation, workup, and treatment of several well-recognized multifocal vascular tumors and malformations.

  16. Pathogenesis of Vascular Anomalies

    PubMed Central

    Boon, Laurence M.; Ballieux, Fanny; Vikkula, Miikka

    2010-01-01

    Vascular anomalies are localized defects of vascular development. Most of them occur sporadically, i.e. there is no familial history of lesions, yet in a few cases clear inheritance is observed. These inherited forms are often characterized by multifocal lesions that are mainly small in size and increase in number with patient’s age. On the basis of these inherited forms, molecular genetic studies have unraveled a number of inherited mutations giving direct insight into the pathophysiological cause and the molecular pathways that are implicated. Genetic defects have been identified for hereditary haemorrhagic telangiectasia (HHT), inherited cutaneomucosal venous malformation (VMCM), glomuvenous malformation (GVM), capillary malformation - arteriovenous malformation (CM-AVM), cerebral cavernous malformation (CCM) and some isolated and syndromic forms of primary lymphedema. We focus on these disorders, the implicated mutated genes and the underlying pathogenic mechanisms. We also call attention to the concept of Knudson’s double-hit mechanism to explain incomplete penetrance and the large clinical variation in expressivity of inherited vascular anomalies. This variability renders the making of correct diagnosis of the rare inherited forms difficult. Yet, the identification of the pathophysiological causes and pathways involved in them has had an unprecedented impact on our thinking of their etiopathogenesis, and has opened the doors towards a more refined classification of vascular anomalies. It has also made it possible to develop animal models that can be tested for specific molecular therapies, aimed at alleviating the dysfunctions caused by the aberrant genes and proteins. PMID:21095468

  17. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    PubMed

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

  18. Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches

    PubMed Central

    Prajapati, H J S; Martin, L G; Patel, T H

    2014-01-01

    The term vascular anomaly represents a broad spectrum of vascular pathology, including proliferating vascular tumours and vascular malformations. While the treatment of most vascular anomalies is multifactorial, interventional radiology procedures, including embolic therapy, sclerotherapy and laser coagulation among others, are playing an increasingly important role in vascular anomaly management. This review discusses the diagnosis and treatment of common vascular malformations, with emphasis on the technique, efficacy and complications of different interventional radiology procedures. PMID:24588666

  19. Glioma coexisting with angiographically occult cerebrovascular malformation: A case report

    PubMed Central

    Chen, Junhui; Chen, Lei; Zhang, Chunlei; He, Jianqing; Li, Peipei; Zhou, Jingxu; Zhu, Jun; Wang, Yuhai

    2016-01-01

    Angiographically occult cerebrovascular malformation (AOVM) is a type of complex cerebrovascular malformation that is not visible on digital subtraction angiography (DSA). Vascular malformation coexisting with glioma is clinically rare, and glioma coexisting with AOVM is even more rare. To the best of our knowledge, the present study is the first to report glioma coexisting with AOVM in the literature. The present study reports a rare case of glioma coexisting with AOVM in a 30-year-old male patient. Computed tomography (CT) scan revealed calcification, hemorrhage and edema in the right frontal lobe. CT angiography revealed a vascular malformation in the right frontal lobe, which was not observed on DSA. Finally, glioma coexisting with AOVM was confirmed by 2.0T magnetic resonance imaging and postoperative pathological examination. The present patient had a positive outcome and no neurological dysfunctions during the 6-month follow-up subsequent to surgery. PMID:27698825

  20. [Venous malformations: clinical characteristics and differential diagnosis].

    PubMed

    Casanova, D; Boon, L-M; Vikkula, M

    2006-01-01

    Venous malformations (VM) are localized defects of blood vessels that are due to vascular dysmorphogenesis. These slow-flow lesions can affect any tissue or organ. Clinically, a cutaneous VM is characterized by a bluish mass that is compressible on palpation. Phleboliths are commonly present. Symptoms depend on location and size. VM are often sporadic and isolated, however, they can be associated with other malformations and be part of a syndrome; Klippel-Trenaunay (capillary-lymphatico-venous malformation with limb hypertrophy) is the most common. Glomuvenous malformation (GVM) is another type of venous anomaly. In contrast to VM, GVM is often painful on palpation and not compressible. Clinical diagnosis of VM is often made in the presence of a bluish cutaneous lesion: however, other lesions can mimick VM. The most frequent anomalies are a blue naevus, a hemorrhagic lymphatic malformation, a sub-cutaneous hemangioma or even the presence of dilated superficial normal veins due to underlying venous stenoses. This chapter will detail the clinical characteristics of venous anomalies and their differential diagnosis.

  1. Malformations of cortical development: genetic mechanisms and diagnostic approach

    PubMed Central

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  2. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

    The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution. PMID:22826821

  3. Arteriovenous malformations: epidemiology and clinical presentation.

    PubMed

    Laakso, Aki; Hernesniemi, Juha

    2012-01-01

    Arteriovenous malformations (AVMs) of the brain are relatively rare congenital developmental vascular lesions. They may cause hemorrhagic stroke, epilepsy, chronic headache, or focal neurologic deficits, and the incidence of asymptomatic AVMs is increasing due to widespread availability of noninvasive imaging methods. Since the most severe complication of an AVM is hemorrhagic stroke, most epidemiologic studies have concentrated on the hemorrhage risk and its risk factors. In this article, the authors discuss the epidemiology, presenting symptoms, and hemorrhage risk associated with brain AVMs.

  4. Increased intracranial pressure

    MedlinePlus

    ... brain. Many conditions can increase intracranial pressure. Common causes include: Aneurysm rupture and subarachnoid hemorrhage Brain tumor Encephalitis Head injury Hydrocephalus (increased fluid around ...

  5. A method for semi-automatic segmentation and evaluation of intracranial aneurysms in bone-subtraction computed tomography angiography (BSCTA) images

    NASA Astrophysics Data System (ADS)

    Krämer, Susanne; Ditt, Hendrik; Biermann, Christina; Lell, Michael; Keller, Jörg

    2009-02-01

    The rupture of an intracranial aneurysm has dramatic consequences for the patient. Hence early detection of unruptured aneurysms is of paramount importance. Bone-subtraction computed tomography angiography (BSCTA) has proven to be a powerful tool for detection of aneurysms in particular those located close to the skull base. Most aneurysms though are chance findings in BSCTA scans performed for other reasons. Therefore it is highly desirable to have techniques operating on standard BSCTA scans available which assist radiologists and surgeons in evaluation of intracranial aneurysms. In this paper we present a semi-automatic method for segmentation and assessment of intracranial aneurysms. The only user-interaction required is placement of a marker into the vascular malformation. Termination ensues automatically as soon as the segmentation reaches the vessels which feed the aneurysm. The algorithm is derived from an adaptive region-growing which employs a growth gradient as criterion for termination. Based on this segmentation values of high clinical and prognostic significance, such as volume, minimum and maximum diameter as well as surface of the aneurysm, are calculated automatically. the segmentation itself as well as the calculated diameters are visualised. Further segmentation of the adjoining vessels provides the means for visualisation of the topographical situation of vascular structures associated to the aneurysm. A stereolithographic mesh (STL) can be derived from the surface of the segmented volume. STL together with parameters like the resiliency of vascular wall tissue provide for an accurate wall model of the aneurysm and its associated vascular structures. Consequently the haemodynamic situation in the aneurysm itself and close to it can be assessed by flow modelling. Significant values of haemodynamics such as pressure onto the vascular wall, wall shear stress or pathlines of the blood flow can be computed. Additionally a dynamic flow model can be

  6. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called “visceral heterotaxy”, in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI.  PMID:26180693

  7. Mechanisms of vascular stability and the relationship to human disease

    PubMed Central

    Smith, Matthew C.P.; Li, Dean Y.; Whitehead, Kevin J.

    2010-01-01

    Purpose of review The genetic basis for a variety of vascular malformation syndromes have been described, with an increasing functional understanding of the associated genes. Recent findings Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability. Summary Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes. Although these findings confirm the biologic importance of the involved pathways, further explanations are required to describe the focal nature of disease. PMID:20308891

  8. Angioplasty and Stenting for Atherosclerotic Intracranial Stenosis: Rationale for a Randomized Clinical Trial

    PubMed Central

    Derdeyn, Colin P.; Chimowitz, Marc I.

    2007-01-01

    Synopsis Atherosclerotic disease of the major intracranial arteries is a frequent cause of stroke. In addition, many patients with symptomatic intracranial stenosis are at very high risk for recurrent stroke. A recently completed medical treatment trial, the Warfarin versus Aspirin for Symptomatic Intracranial Stenosis (WASID) trial, showed that aspirin was as effective and safer than warfarin for preventing stroke or vascular death in these patients, and that patients with 70%-99% intracranial stenosis are at particularly high risk of stroke despite antithrombotic therapy and usual management of vascular risk factors. Preliminary studies suggest that angioplasty and stenting may reduce the risk of stroke in patients with severe stenosis of intracranial arteries. However, data for angioplasty and stenting consists of case series: no randomized studies have been completed to date. These data will be reviewed and the rationale for a randomized trial of angioplasty and stenting versus best medical management for patients with symptomatic intracranial stenosis will be discussed. PMID:17826637

  9. Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.

    PubMed

    Goujon, Elisa; Cordoro, Kelly M; Barat, Muriel; Rousseau, Thierry; Brouillard, Pascal; Vikkula, Miikka; Frieden, Ilona J; Vabres, Pierre

    2011-01-01

    Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions.

  10. [Idiopathic intracranial hypertension].

    PubMed

    Bäuerle, J; Egger, K; Harloff, A

    2017-02-01

    This review describes the clinical findings as well as thes diagnostic and therapeutic options for idiopathic intracranial hypertension (pseudotumor cerebri). Furthermore, the pathophysiological concepts are discussed. Idiopathic intracranial hypertension is characterized by signs and symptoms of raised intracranial pressure with no established pathogenesis. Common symptoms include headaches, visual loss and pulsatile tinnitus. Treatment has two major goals: the alleviation of headaches and the preservation of vision. Weight loss and acetazolamide are the cornerstones in the treatment of the disorder. Drainage of cerebrospinal fluid, optic nerve sheath fenestration and stent angioplasty of a sinus stenosis can be employed in severe cases.

  11. Intracranial dural based chondroma.

    PubMed

    Reinshagen, Clemens; Redjal, Navid; Sajed, Dipti P; Nahed, Brian V; Walcott, Brian P

    2016-03-01

    Intracranial chondromas are benign, slow-growing, cartilaginous tumors, which comprise only about 0.2% of all intracranial tumors. The majority of these lesions occur at the base of the skull, where they are thought to arise from residual embryonic chondrogenic cells along the basal synchondrosis. Very rarely, they may also originate from the convexity dura, falx cerebri, or the brain parenchyma. We present a patient with a dural based chondroma to highlight the technical considerations of surgical resection. The recent literature on intracranial chondromas regarding incidence, pathophysiologic origin, clinical symptoms, imaging, histopathology and prognosis is reviewed.

  12. Intracranial pressure monitoring

    MedlinePlus

    ... head. The monitor senses the pressure inside the skull and sends measurements to a recording device. ... are 3 ways to monitor pressure in the skull (intracranial pressure). INTRAVENTRICULAR CATHETER The intraventricular catheter is ...

  13. Arteriovenous malformation in chronic gastrointestinal bleeding.

    PubMed Central

    Cavett, C M; Selby, J H; Hamilton, J L; Williamson, J W

    1977-01-01

    Arteriovenous malformations of the gastrointestinal tract are uncommon and treatment is problematic because routine barium contrast studies and endoscopy fail to demonstrate the lesion. Diagnosis is by selective mesenteric arteriography, demonstrating a characteristic vascular tuft and very early venous phase. Two cases of arteriovenous malformation are presented and 47 other reported cases are reviewed. Forty-five per cent were found in the cecum; 37, or 80%, involved the distal ileum, cecum ascending colon, or hepatic flexure. Seventy-five per cent of all patients fall into the 50--80 year age range. The literature reveals a recurring pattern of chronic gastrointestinal blood loss, anemia, and delay (even negative abdominal explorations) before the diagnosis is finally made. A more aggressive approach to chronic gastrointestinal bleeding is suggested through the use of selective mesenteric arteriography. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. PMID:299801

  14. Spitz nevus arising upon a congenital glomuvenous malformation.

    PubMed

    Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

    2013-01-01

    There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM.

  15. Bleomycin sclerotherapy for lymphatic malformation after unsuccessful surgical excision: case report.

    PubMed

    Vlahovic, A; Gazikalovic, A; Adjic, O

    2015-10-01

    Lymphatic malformations (LMs) are benign cystic masses resulting from the abnormal development of lymphatic channels. Lymphatic malformations occur primarily in the head and neck region. Surgical excision of lymphatic malformation is followed by high rate of recurrence and a high risk of complications. Bleomycin is an established antineoplastic drug. It can be used as a sclerosing agent in vascular anomalies. We present a child who was unsuccessfully treated with four surgical resections, with peripheral palsy of facial nerve as complication. The lymphatic malformation was successfully treated in our institution with intralesional administration of bleomycin.

  16. Ventricular Tract Hemorrhage Following Intracranial Nail Removal: Utility of Real-time Endovascular Assistance

    PubMed Central

    Rennert, Robert C.; Steinberg, Jeffrey A.; Sack, Jayson; Pannell, J. Scott; Khalessi, Alexander A.

    2016-01-01

    Penetrating brain trauma commonly results in occult neurovascular injury. Detailed cerebrovascular imaging can evaluate the relationship of intracranial foreign bodies to major vascular structures, assess for traumatic pseudoaneurysms, and ensure hemostasis during surgical removal. We report a case of a self-inflicted intracranial nail gun injury causing a communicating ventricular tract hemorrhage upon removal, as well as a delayed pseudoaneurysm. Pre- and post-operative vascular imaging, as well as intra-operative endovascular assistance, was critical to successful foreign body removal in this patient. This report demonstrates the utility of endovascular techniques for the assessment and treatment of occult cerebrovascular injuries from intracranial foreign bodies. PMID:27471490

  17. A Review of Vascular Abnormalities of the Spine

    PubMed Central

    Singh, Rahul; Lucke-Wold, Brandon; Gyure, Kymberly; Boo, Sohyun

    2017-01-01

    Patients with spinal vascular lesions present with unique symptoms and have important anatomical and physiologic changes that must be considered prior to treatment. In this mini-review, we provide an overview of normal spinal vascular anatomy and discuss several key spinal vascular lesions. We provide an overview of cavernous malformations, intradural arteriovenous malformations, perimedullary arteriovenous fistulas, and dural arteriovenous fistulas. Important considerations are addressed in terms of pathologic characterization, specific imaging findings, and treatment approaches. PMID:28191502

  18. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.

    PubMed

    Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A

    2004-07-01

    Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations.

  19. Large pure intracranial vagal schwannoma.

    PubMed

    Gazzeri, Roberto; Galarza, Marcelo; Costanzo, De Bonis; Carotenuto, Vincenzo; D'Angelo, Vincenzo

    2009-04-01

    We report a patient with a large, pure intracranial vagal schwannoma, compressing the medulla who presented with essential hypertension. Based on this and on previous cases, we suggest that a differentiation of pure intracranial schwannomas (subtype A1) from intracranial schwannomas with some extension in the jugular foramen (type A) should be used.

  20. Stereotactic radiosurgery with the linear accelerator: treatment of arteriovenous malformations.

    PubMed

    Betti, O O; Munari, C; Rosler, R

    1989-03-01

    An original stereotactic radiosurgical approach coupling a) Talairach's stereotactic methodology, b) a specially devised mechanical system, and c) a linear accelerator is detailed. The authors present their preliminary results on 66 patients with nonsurgical intracranial arteriovenous malformations. The doses delivered for treatment varied from 20 to 70 Gy. Doses of no more than 40 Gy were used in 80% of patients. An angiographic study was performed when the computed tomographic scan controls showed relevant modifications of the lesion volume. Total obliteration was obtained in 27 of the 41 patients (65.8%) who were followed up for at least 24 months. The percentage of the cured patients is significantly higher when a) the entire malformation is included in the 75% isodose (96%) and b) the maximum diameter of the lesion is less than 12 mm (81%). Two patients died of rebleeding at 18 and 29 months after treatment.

  1. Congenital cardiovascular malformations and the fetal circulation.

    PubMed

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  2. Uterine Vascular Lesions

    PubMed Central

    Vijayakumar, Abhishek; Srinivas, Amruthashree; Chandrashekar, Babitha Moogali; Vijayakumar, Avinash

    2013-01-01

    Vascular lesions of the uterus are rare; most reported in the literature are arteriovenous malformations (AVMs). Uterine AVMs can be congenital or acquired. In recent years, there has been an increasing number of reports of acquired vascular lesions of the uterus following pregnancy, abortion, cesarean delivery, and curettage. It can be seen from these reports that there is confusion concerning the terminology of uterine vascular lesions. There is also a lack of diagnostic criteria and management guidelines, which has led to an increased number of unnecessary invasive procedures (eg, angiography, uterine artery embolization, hysterectomy for abnormal vaginal bleeding). This article familiarizes readers with various vascular lesions of the uterus and their management. PMID:24340126

  3. Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

    PubMed

    Haasdijk, Remco A; Cheng, Caroline; Maat-Kievit, Anneke J; Duckers, Henricus J

    2012-02-01

    Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1-0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures.In this article, we review the clinical features, molecular and genetic basis of the disease, and management.

  4. Intracranial dural arteriovenous fistula as a cause for symptomatic superficial siderosis: A report of two cases and review of the literature

    PubMed Central

    Baum, Griffin R.; Turan, Nefize; Buonanno, Ferdinando S.; Pradilla, Gustavo; Nogueira, Raul G.

    2016-01-01

    Background: Superficial siderosis (SS) is the occult deposition of hemosiderin within the cerebral cortex due to repeat microhemorrhages within the central nervous system. The collection of hemosiderin within the pia and superficial cortical surface can lead to injury to the nervous tissue. The most common presentation is occult sensorineural hearing loss although many patients have been misdiagnosed with diseases such as multiple sclerosis and amyotrophic lateral sclerosis before being diagnosed with SS. Only one case report exists in the literature describing an intracranial dural arteriovenous fistula (dAVF) as the putative cause for SS. Case Description: We describe two cases of SS caused by a dAVF. Both patients had a supratentorial, cortical lesion supplied by the middle meningeal artery with venous drainage into the superior sagittal sinus. In both patients, symptoms improved after endovascular embolization. The similar anatomic relationship of both dAVFs reported presents an interesting question about the pathogenesis of SS. Similar to the pathologic changes seen in the formation of intracranial arterial aneurysms; it would be possible that changes in the blood vessel lining and wall might predispose a patient to chronic, microhemorrhage resulting in SS. Conclusions: We describe the second and third cases of a dAVF as the cause of SS, and the first cases of successful treatment of SS-associated dAVF with endovascular embolization. As noninvasive imaging techniques become more sensitive and easily obtained, one must consider their limitations in detecting occult intracranial vascular malformations such as dAVF as a possible etiology for SS. PMID:27127712

  5. Retinal Vascular Changes are a Marker for Cerebral Vascular Diseases.

    PubMed

    Moss, Heather E

    2015-07-01

    The retinal circulation is a potential marker of cerebral vascular disease because it shares origin and drainage with the intracranial circulation and because it can be directly visualized using ophthalmoscopy. Cross-sectional and cohort studies have demonstrated associations between chronic retinal and cerebral vascular disease, acute retinal and cerebral vascular disease, and chronic retinal vascular disease and acute cerebral vascular disease. In particular, certain qualitative features of retinopathy, retinal artery occlusion, and increased retinal vein caliber are associated with concurrent and future cerebrovascular events. These associations persist after accounting for confounding variables known to be disease-causing in both circulations, which supports the potential use of retinal vasculature findings to stratify individuals with regards to cerebral vascular disease risk.

  6. Arteriovenous Malformation Underlying a Plexiform Neurofibroma: An Unusual Presentation

    PubMed Central

    Abbas, Zaheer; Khani, Sepideh; Zare, Javad

    2017-01-01

    Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma. This report emphasizes the importance of careful examination and proper investigations of the plexiform neurofibroma prior to treatment strategies to avoid future complications. The rarity of plexiform neurofibroma in association with arteriovenous malformation at the same site was also highlighted in this report.

  7. A Review of Vascular Anomalies: Genetics and Common Syndromes

    PubMed Central

    Killion, Elizabeth; Mohan, Kriti; Lee, Edward I.

    2014-01-01

    Vascular tumors and malformations are unique in that affected cells exhibit disrupted angiogenesis. The current treatment options often yield suboptimal results. New insight into the genetics and molecular basis of vascular anomalies may pave the way for potential development of targeted therapy. The authors review the genetic and molecular basis of vascular anomalies and common associated syndromes. PMID:25045331

  8. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used.

  9. [Diagnostic imaging of peripheral renal vascular disorders].

    PubMed

    Hélénon, O; Correas, J M; Eiss, D; Khairoune, A; Merran, S

    2004-02-01

    Peripheral vascular disorders of the kidney involve the intrarenal branches of the renal vascular tree. It include occlusive (infarction and cortical necrosis) and non-occlusive vascular lesions (acquired arteriovenous fistulas, arteriovenous malformation, false aneurysms and microaneurysms). Initial diagnosis relies on color Doppler US and CT angiography. Angiography plays a therapeutic role. MR imaging provides useful diagnostic information on perfusion disorders especially in patients with renal insufficiency.

  10. Venous malformation and haemangioma: differential diagnosis, diagnosis, natural history and consequences.

    PubMed

    Lee, B B

    2013-03-01

    Venous malformation (VM) is the most common form of congenital vascular malformation (CVM). VM presents at birth as an inborn vascular defect and never disappears/regresses spontaneously through the rest of life; it will continue to grow slowly at a rate that is proportional to the growth rate of the body. Haemangioma is not a vascular malformation but one of the vascular tumours originating from the endothelial cells; it develops after birth mostly in the infantile/neonatal period with a distinctive growth cycle: a proliferation phase of early rapid growth followed by an involutional phase of slow regression. Although the vascular malformation and vascular tumour belong to the 'vascular anomaly' together, both conditions are fundamentally different not only in their anatomical, histological and pathophysiological findings but also in their clinical courses. Therefore, an appropriate differential diagnosis of the VM is mandated not only from other kinds of CVMs but also from 'genuine' haemangioma. Appropriate diagnosis and assessment of VMs can be made based on clinical presentation and a proper combination of basic non-invasive studies in general but the presence of a mixed lesion involving other types of CVM lesions and the type of VM lesion, extratruncular and truncular, will dictate the need for further work-up with additional non- to less-invasive study or angiography. Otherwise, angiography is usually reserved for therapeutic planning and treatment.

  11. Intracranial Trigeminal Schwannoma

    PubMed Central

    2015-01-01

    Intracranial trigeminal schwannomas are rare tumors. Patients usually present with symptoms of trigeminal nerve dysfunction, the most common symptom being facial pain. MRI is the imaging modality of choice and is usually diagnostic in the appropriate clinical setting. The thin T2-weighted CISS 3D axial sequence is important for proper assessment of the cisternal segment of the nerve. They are usually hypointense on T1, hyperintense on T2 with avid enhancement post gadolinium. CT scan is supplementary to MRI, particularly for tumors located in the skull base. Imaging plays a role in diagnosis and surgical planning. In this pictorial essay, we retrospectively reviewed imaging findings in nine patients with pathologically proven trigeminal schwannoma. Familiarity with the imaging findings of intracranial trigeminal schwannoma may help to diagnose this entity. PMID:25924170

  12. [Vascular "tumors" and the rules of their surgical management].

    PubMed

    Enjolras, O; Deffrennes, D; Borsik, M; Diner, P; Laurian, C

    1998-08-01

    After defining vascular tumors and malformations, formerly called angiomas, the authors adopt the classification of the International Society for the Study of vascular Anomalies. The various groups of malformations, after definition of the subject and the problems raised, are illustrated by a number of clinical cases and the rules of surgical management are discussed. Capillary malformations, formerly called portwine stains, can be treated by dye laser, but sometimes tissue and orthognathic reconstructive surgery in the presence of a skeletal malformation. Lymphatic malformations (lymphangiomas), optimally assessed by CT or MRI, can be treated by a variety of approaches: sclerotherapy, surgery. Venous malformations raise very different problems in the cervicocephalic region and on the limbs and trunk, but always require a multidisciplinary approach with, according to the site, size and repercussions, Ethibloc percutaneous sclerotherapy, embolization, surgery. Arteriovenous malformations require complete surgical treatment, usually preceded by embolization; reconstruction consists of local flaps or skin expansion in simple cases, and revascularized free flaps in difficult cases. If the malformation is cosmetically and functionally acceptable, the authors propose conservative management. The first-line treatment of haemangiomas is pharmacological (corticosteroids, interferon), but surgery may be indicated in two situations: early and late. There is a renewed interest in early surgery, subtended by several factors including cosmetic concerns and the development of new technologies, including the Cavitron. Late surgery retains its classical cosmetic and functional indications. Two key-words dominate the rules of therapeutic management of all types of vascular malformations: a multidisciplinary approach and modesty.

  13. Intracranial pial arteriovenous fistulas.

    PubMed

    Lee, Ji Yeoun; Son, Young-Je; Kim, Jeong Eun

    2008-08-01

    Intracranial pial arteriovenous fistula (AVF) is a rare cerebrovascular lesion that has only recently been recognized as a distinct pathological entity. A 41-year-old woman (Patient 1) presented with the sudden development of an altered mental state. Brain CT showed an acute subdural hematoma. A red sylvian vein was found intraoperatively. A pial AVF was revealed on postoperative angiography, and surgical disconnection of the AVF was performed. A 10-year-old boy (Patient 2) presented with a 10-day history of paraparesis and urinary incontinence. Brain, spinal MRI and angiography revealed an intracranial pial AVF and a spinal perimedullary AVF. Endovascular embolization was performed for both lesions. The AVFs were completely obliterated in both patients. On follow-up, patient 1 reported having no difficulty in performing activities of daily living. Patient 2 is currently able to walk without assistance and voids into a diaper. Intracranial pial AVF is a rare disease entity that can be treated with surgical disconnection or endovascular embolization. It is important for the appropriate treatment strategy to be selected on the basis of patientspecific and lesion-specific factors in order to achieve good outcomes.

  14. Early Support of Intracranial Perfusion

    DTIC Science & Technology

    2013-10-01

    automated real-time vital signs monitoring data” was funded by USAF (MSA); UM PI: Deborah Stein  The project, titled “Noninvasive intracranial pressure ...scoring of cerebral perfusion pressure and intracranial pressure provides a Brain Trauma Index that predicts outcome in patients with severe TBI... intracranial pressure dose index: Dynamic 3-D scoring in the assessment of Traumatic Brain Injury Proceedings of American Association for the Surgery of

  15. Intracranial chondroma: a rare entity.

    PubMed

    Maheshwari, Veena; Mehdi, Ghazala; Varshney, Manoranjan; Jain, Anshu; Vashishtha, Sonal; Gaur, Kavita; Srivastava, Vinod Kumar

    2011-05-12

    Intracranial chondroma is a rare benign cartilaginous tumour with an incidence of less than 1% of all primary intracranial tumours. The authors are reporting here a case of intracranial chondroma in a 40-year-old man who presented with 5-month history of headache and gradual diminution of vision. A tentative diagnosis of chondroma was made on imprint cytology which was confirmed on histopathological examination.

  16. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  17. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  18. PHACE Syndrome: Persistent Fetal Vascular Anomalies

    PubMed Central

    Prochazka, V.; Hrbac, T.; Chmelova, J.; Skoloudik, D.; Prochazka, M.

    2005-01-01

    Summary PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency. PMID:20584448

  19. Mouse models of intracranial aneurysm.

    PubMed

    Wang, Yutang; Emeto, Theophilus I; Lee, James; Marshman, Laurence; Moran, Corey; Seto, Sai-wang; Golledge, Jonathan

    2015-05-01

    Subarachnoid hemorrhage secondary to rupture of an intracranial aneurysm is a highly lethal medical condition. Current management strategies for unruptured intracranial aneurysms involve radiological surveillance and neurosurgical or endovascular interventions. There is no pharmacological treatment available to decrease the risk of aneurysm rupture and subsequent subarachnoid hemorrhage. There is growing interest in the pathogenesis of intracranial aneurysm focused on the development of drug therapies to decrease the incidence of aneurysm rupture. The study of rodent models of intracranial aneurysms has the potential to improve our understanding of intracranial aneurysm development and progression. This review summarizes current mouse models of intact and ruptured intracranial aneurysms and discusses the relevance of these models to human intracranial aneurysms. The article also reviews the importance of these models in investigating the molecular mechanisms involved in the disease. Finally, potential pharmaceutical targets for intracranial aneurysm suggested by previous studies are discussed. Examples of potential drug targets include matrix metalloproteinases, stromal cell-derived factor-1, tumor necrosis factor-α, the renin-angiotensin system and the β-estrogen receptor. An agreed clear, precise and reproducible definition of what constitutes an aneurysm in the models would assist in their use to better understand the pathology of intracranial aneurysm and applying findings to patients.

  20. A rare case of pulmonary arterio-venous malformation with recurrent anemia: Hereditary hemorrhagic telangiectasia

    PubMed Central

    Nataraju, Kamalesh Tagadur; Mukherjee, Tirthankar; Doddaiah, Ramachandra Prabhu Hosahalli; Nanjappa, Nagesh Gabbadi; Narasegowda, Lakshmikanth

    2015-01-01

    Arteriovenous malformation (AVM) is a rare vascular anomaly of the lung, which manifests predominantly as dyspnea (due to right to left shunting) and paradoxical embolism. Hereditary Hemorrhagic Telangiectasia (HHT) being a rare genetic disorder is one of the most common causes of pulmonary arteriovenous malformation (PAVM). Here we report an interesting case of recurrent anemia in an elderly female, who was subsequently found to have multiple cutaneous and mucosal telangiectasias and a large pulmonary AVM. PMID:26180392

  1. A case of prenatally diagnosed extrapulmonary arteriovenous malformation associated with a complex heart defect

    PubMed Central

    Jeong, Ba-Da; An, Suah; Kim, Ji Yeon; Lee, Mi-Young; Kim, Eun Na; Kim, Jung-Sun; Kim, Chong Jai

    2016-01-01

    Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21.0 weeks of gestation and confirmed by postmortem autopsy. PMID:27896260

  2. Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus.

    PubMed Central

    Obrador, S; Soto, M; Silvela, J

    1975-01-01

    Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

  3. Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis.

    PubMed

    Fischer, Andreas; Zalvide, Juan; Faurobert, Eva; Albiges-Rizo, Corinne; Tournier-Lasserve, Elisabeth

    2013-05-01

    Cerebral cavernous malformations (CCMs) are vascular lesions that can occur sporadically or as a consequence of inherited loss-of-function mutations, predominantly in the genes CCM1 (KRIT1), CCM2 (MGC4607, OSM, Malcavernin), or CCM3 (PDCD10, TFAR15). Inherited, familial CCM is characterized by the development of multiple lesions throughout a patient's life leading to recurrent cerebral hemorrhages. Recently, roles for the CCM proteins in maintaining vascular barrier functions and quiescence have been elucidated, and in this review we summarize the genetics and pathophysiology of this disease and discuss the molecular mechanisms through which CCM proteins may act within blood vessels.

  4. Preoperative Assessment of Adult Patients for Intracranial Surgery

    PubMed Central

    Sivanaser, Vanitha; Manninen, Pirjo

    2010-01-01

    The preoperative assessment of the patient for neurosurgical and endovascular procedures involves the understanding of the neurological disease and its systemic presentation, and the requirements of the procedure. There is a wide spectrum of different neurosurgical disorders and procedures. This article provides an overview of the preoperative evaluation of these patients with respect to general principles of neuroanesthesia, and considerations for specific intracranial and vascular neurosurgical and interventional neuroradiological procedures. PMID:20700431

  5. Unusual association of Arnold-Chiari malformation and vitamin B12 deficiency.

    PubMed

    Verma, Rajesh; Praharaj, Heramba Narayan

    2012-07-09

    Arnold-Chiari malformations are a group of congenital or acquired defects associated with the displacement of cerebellar tonsils into the spinal canal. First described by Chiari (1891), this has various grades of severity and involves various parts of neuraxis, for example, cerebellum and its outputs, neuro-otological system, lower cranial nerves, spinal sensory and motor pathways. The symptomatology of Arnold-Chiari malformations may mimic multiple sclerosis, primary headache syndromes, spinal tumours and benign intracranial hypertension. We highlighted a case of Chiari type I malformation, who presented with posterolateral ataxia associated with significant vitamin B(12) deficiency. The patient was supplemented with vitamin B(12) injections and showed remarkable improvement at follow-up after 3 months.

  6. Multiple intracranial enterogenous cysts.

    PubMed Central

    Walls, T J; Purohit, D P; Aji, W S; Schofield, I S; Barwick, D D

    1986-01-01

    The case of a 40-year-old woman with increasing ataxia is described. Although the clinical presentation and evoked response studies raised the possibility of multiple sclerosis, further investigation revealed multiple cystic intracranial lesions. Surgical excision of one of the lesions relieved the patient's symptoms. Histological examination revealed that this was an enterogenous cyst. Although single cysts of this type have rarely been reported occurring in the posterior cranial fossa, the occurrence of multiple lesions, some in the supratentorial compartment, appears to be unique. Images PMID:3701354

  7. Ruptured intracranial dermoid cyst.

    PubMed

    Oursin, C; Wetzel, S G; Lyrer, P; Bächli, H; Stock, K W

    1999-09-01

    Intradural dermoids are rare congenital tumors representing approximately 0.05% of all intracranial lesions. These benign tumors have a typical appearance on CT and MR due to their lipid components. The complication caused by rupture are the spillage of the fatty material into the cerebrospinal fluid. We report a case of a ruptured dermoid cyst showing fat/fluid levels in both side ventricles and fatty material in the subarachnoid space on CT and MR-imaging and the follow-up over four years after incomplete resection of the tumor.

  8. Pediatric intracranial aneurysms.

    PubMed

    Tripathy, L N; Singh, S N

    2009-01-01

    The incidence of subarachnoid haemorrhage from intracranial aneurysms in the paediatric age group is extremely rare. Interestingly, occurrence of vasospasm has been reported to be less in comparison to the adults. Both coiling and clipping have been advocated in selected cases. Because of the thinness of the wall of the arteries, utmost care should be taken while handling these arteries during surgery. The overall results of surgery in children have been reported to be better than their adult counterparts. We present four such cases from our own experience. All these children were operated upon, where the solitary aneurysm in each case was clipped and all of them made a good recovery.

  9. Intracranial abscess in Ectopia Cordis.

    PubMed

    Merola, Joseph; Tipper, Geoffrey Adrian; Hussain, Zakier; Balakrishnan, Venkataraman; Gan, Peter

    2014-08-25

    We present a case of intracranial abscess in a young female with Ectopia Cordis, an exceptionally rare cardiac condition. The neurosurgical implication is the predisposition to intracranial abscess formation. A heightened awareness of this association will aid diagnosis in similar clinical scenarios.

  10. [Diagnostics of genetic malformations in small ruminants].

    PubMed

    Ganter, M

    2013-01-01

    The epidemic occurrence of the Schmallenberg virus has induced numerous congenital malformations in small ruminants. Because of this high incidence of malformed lambs, an overview of the different causes of congenital malformations is provided. The most frequent infectious and physical causes as well as mineral and vitamin deficiencies and toxic agents which can induce congenital malformations are indicated. This list is supplemented by advice on sampling and laboratory diagnosis for an etiological diagnosis of the malformations.

  11. Primary intracranial choriocarcinoma: MR imaging findings.

    PubMed

    Lv, X-F; Qiu, Y-W; Zhang, X-L; Han, L-J; Qiu, S-J; Xiong, W; Wen, G; Zhang, Y-Z; Zhang, J

    2010-11-01

    PICCC is the rarest, most malignant primary intracranial GCT. The purpose of this study was to describe and characterize the MR imaging findings in a series of 7 patients (6 males and 1 female; mean age, 11.9 years) with pathologically proved PICCC in our institution from 2004 to 2009. All tumors were located within the pineal (n = 6) or suprasellar (n = 1) regions. On T2-weighted MR imaging, the lesions appeared markedly heterogeneous with areas of both hypointensity and hyperintensity reflecting the histologic heterogeneity, including hemorrhage, fibrosis, cysts, or necrosis. Heterogeneous (n = 7), ringlike (n = 4), and/or intratumoral nodular (n = 3) enhancement was noted on T1-weighted images with gadolinium. These MR imaging findings, combined with patient age and serum β-HCG levels, may prove helpful in distinguishing PICCC from the more common primary brain tumors, thereby avoiding biopsy of this highly vascular tumor.

  12. The unusual angiographic course of intracranial pseudoaneurysms

    PubMed Central

    Zanaty, Mario; Chalouhi, Nohra; Jabbour, Pascal; Starke, Robert M.; Hasan, David

    2015-01-01

    Although rare, traumatic intracranial pseudoaneurysms remain one of the most difficult vascular lesions to diagnose and treat. A 55-year-old male patient underwent endoscopic endonasal transphenoidal resection for a pituitary macroadenoma. The operation was complicated by an arterial bleed. The initial angiogram revealed pseudoaneurysm of the anterior choroidal artery. Although the pseudoaneurysm completely disappeared on the second angiogram, it was surprisingly found to have enlarged on the third angiogram. The lesion was successfully treated with flow-diversion using a pipeline embolization device. The present case demonstrates that the natural history of iatrogenic pseudoaneurysms may be unpredictable and misleading. Traumatic pseudoaneurysms should, therefore, be carefully followed when conservative treatment is elected or when the lesion seems to have spontaneously regressed. Flow-diversion seems to be a reasonable treatment option. PMID:26425168

  13. Venous malformation: update on aetiopathogenesis, diagnosis and management.

    PubMed

    Dompmartin, A; Vikkula, M; Boon, L M

    2010-10-01

    The aim of this review was to discuss the current knowledge on aetiopathogenesis, diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneomucosal VMs or glomuvenous malformations), combined (e.g. capillaro-venous and capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, blue rubber bleb naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of VMs within vascular anomalies. Those associated with pain are often responsive to low-molecular-weight heparin, which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose-ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area.

  14. Embolization of Arteriovenous Malformation

    PubMed Central

    Nagashima, H.; Hongo, K.; Kobayashi, S.; Takamae, T.; Okudera, H.; Koyama, J.I.; Oya, F.; Matsumoto, Y.

    2004-01-01

    Summary Treatment options for cerebral arteriovenous malformation (AVM) are still controversial due to the recent result of stereotactic radiosurgery and the improved result of microsurgical resection. We investigated previously treated AVM cases and discussed the efficacy and safety of preoperative embolization especially for microsurgical resection of high-grade AVM in the Spetzler-Martin grading. Efficacy of preoperative embolization was evaluated based on 126 previously treated AVM cases at Shinshu University Hospital during the last 25 years. The safety of embolization was evaluated based on our previously-embolized 58 AVM cases (91 procedures) in the last 11 years after introduction of preoperative embolization for AVM. In all 126 cases, 82 were treated before introduction of embolization and 44 were treated after introduction of embolization. In 82 cases of the pre-embolization era, 63 lesions were removed totally in 63 AVMs (77%), partially resected in 11 (13%) and untreated in eight (10%). In 74 surgically removed cases, 11 (15%) cases showed severe intra/postoperative bleeding. In 44 cases of the embolization era, lesions were removed totally in 29 AVMs (66%), disappeared only with embolization in one (2%), disappeared with radiosurgery in seven (16%) and were untreated in five (11%). In 32 surgically removed cases, only one (2%) case showed severe intra/postoperative bleeding. In all 58 embolized cases, 44 were surgically removed, six were treated with radiosurgery, one was eliminated with embolization alone and six were partially obliterated and followed up for their location. In 91 procedures for 58 cases, two haemorrhagic and three ischemic complications occurred, three were transient and two remained having neurological deficits. The introduction of preoperative embolization improved the total removal rate and reduced the intra/postoperative bleeding rate in surgical removal of AVM. The total risk of embolization is low and well-designed preoperative

  15. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  16. Kernohan's phenomenon associated with left ruptured occipital arteriovenous malformation.

    PubMed

    Fujimoto, A; Sato, H; Katayama, W; Nakai, K; Tsunoda, T; Kobayashi, E; Nose, T

    2004-05-01

    A 23-year-old woman presented with ipsilateral hemiparesia due to rupture of a left occipital arteriovenous malformation (AVM). Emergency decompression (the onset-operation interval was 46 minutes,) was carried out and the patient could leave the hospital upon recovery without neurological deficits. In general, Kernohan's phenomenon is caused by the gradual displacement of the cerebral peduncle against the tentorial edge caused by compression by the contralateral mass. This phenomenon is very rare among the cases with spontaneous intracranial hemorrhage and only three cases including the present one have been reported in the literature. In all cases the onset-operation intervals of were very short. Kernohan's phenomenon associated with a ruptured AVM is a rare condition and emergency decompression is required.

  17. Intracranial extra-axial hemangioma in a newborn: A case report and literature review

    PubMed Central

    Dalsin, Marcos; Silva, Rafael Sodré; Galdino Chaves, Jennyfer Paula; Oliveira, Francine Hehn; Martins Antunes, Ápio Cláudio; Vedolin, Leonardo Modesti

    2016-01-01

    Background: Congenital hemangiomas are benign vascular tumors, and the intracranial counterpart was described in very few cases. Case Description: A newborn presented with an intracranial tumor associated with an arachnoid cyst, diagnosed by antenatal ultrasound at 37 weeks of gestation. Surgery was indicated due to increased head circumference and bulging fontanelle, and a complete resection of an extra-axial red–brown tumor was performed at the 3rd week of life. Microscopy revealed a hemangioma. Conclusion: Hemangioma is a rare differential diagnosis that must be considered in extra-axial intracranial tumors affecting infants and neonates. The radiological features are not helpful in differentiating from other tumors, and surgery is indicated when the diagnosis is uncertain or whenever there are signs of increased intracranial pressure. PMID:27274403

  18. Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.

    PubMed

    Borroni, Riccardo G; Grassi, Sara; Concardi, Monica; Puccio, Ignazio; Giordano, Calogero; Agozzino, Manuela; Caspani, Clelia; Grasso, Maurizia; Diegoli, Marta; Arbustini, Eloisa

    2014-03-01

    Glomuvenous malformations (OMIM 138000) are hamartomas presenting in childhood as multiple, bluish papules and nodules in the skin, which are characterized histopathologically by irregular vascular spaces surrounded by typical glomus cells. Glomuvenous malformations are caused by autosomal dominant mutations of the GLMN gene. A 34-year-old woman and her 16-year-old son presented with bluish papules and nodules since childhood. Biopsy specimens from both patients showed histopathologic features of glomuvenous malformations, unusually in consistent and close association with smooth muscle, hair follicles and eccrine glands. Sequencing of the GLMN gene revealed the p.C36X (c.108C>A) mutation in germline DNA from both patients. This is probably the first report describing the hamartomatous features of familial glomuvenous malformations consistently associated with a prominent smooth muscle component and eccrine glands.

  19. Vein of Galen malformation in a neonate: A case report and review of endovascular management

    PubMed Central

    Puvabanditsin, Surasak; Mehta, Rajeev; Palomares, Kristy; Gengel, Natalie; Da Silva, Christina Ferrucci; Roychowdhury, Sudipta; Gupta, Gaurav; Kashyap, Arun; Sorrentino, David

    2017-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular malformation caused by the maldevelopment of its embryonic precursor, the median prosencephalic vein of Markowski. VOGM results in neonatal morbidity and mortality, and premature delivery does not improve the outcome. We report a term female neonate in whom a vein of Galen malformation was diagnosed prenatally at 37 wk of gestation during a growth ultrasound and confirmed by fetal magnetic resonance imaging. Signs of cardiac decompensation were evident in the fetus. Multiple interventional radiology embolizations of the feeding vessels were performed successfully on days 7, 10, 12, 14 and 19. A review of the literature on the endovascular management of neonates with these malformations is presented herein. PMID:28224101

  20. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    PubMed

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions.

  1. Understanding venous malformations of the head and neck: a comprehensive insight.

    PubMed

    Colletti, Giacomo; Ierardi, Anna Maria

    2017-03-01

    Venous malformations (VMs) are congenital vascular malformations. They are very often misnamed and thus incorrectly managed. The aim of the present paper is to provide the reader with the most updated literature available and to offer a detailed description of each single aspect of this disease. In detail, the paper discusses the epidemiology, the embryological origins and the physiopathology of VMs. Then, the clinical features of sporadic, inherited and syndromic VMs are discussed. The instrumental diagnosis is presented, and the role of US, CT, MRI and phlebography is pointed out. Differential diagnoses with other vascular malformations and tumors are described. The clinical session ends with the staging of VMs relying on MRI and rheological features. All aspects of treatment are described: conservative measures, medical treatment, sclerotherapy, laser and surgery are thoroughly discussed. A section is reserved to bony VMs. Their clinical aspects and the appropriate treatment are presented.

  2. An intratesticular arteriovenous malformation identified incidentally during ultrasound evaluation of scrotal trauma

    PubMed Central

    Jafarpishefard, Mohammad Saleh; Momeni, Mohammad; Baradaran Mahdavi, Mohammad Mehdi; Momeni, Fatame; Kamal, Sima

    2016-01-01

    Intratesticular arteriovenous malformation (AVM) is an extremely rare benign testicular lesion. Ultrasonography (US) usually reveals a hypoechoic solid vascular mass within the testicular parenchyma. Herein, we report our experience with a young patient in whom an intratesticular AVM was found incidentally by US during the workup of scrotal trauma. PMID:28217640

  3. Combined laser and surgical treatment of giant port wine stain malformation - Case report

    NASA Astrophysics Data System (ADS)

    Siewiera, I.; Drozdowski, P.; Wójcicki, P.

    2012-10-01

    Background:Port-wine stains (PWS) are vascular malformations of the skin concerning about 0,3% of the population. Though various laser systems have been used for various treatment regimens the treatment of PWS of large size is especially difficult and demanding from aesthetic and psychological point of view.

  4. Possible association between acetazolamide administration during pregnancy and multiple congenital malformations

    PubMed Central

    Al-Saleem, Afnan I; Al-Jobair, Asma M

    2016-01-01

    Congenital malformations might occur because of environmental or genetic factors, and sometimes occur because of unknown causes. Acetazolamide is a carbonic anhydrase inhibitor that is used to treat idiopathic intracranial hypertension, glaucoma, and epilepsy. The use of acetazolamide has not been recommended for pregnant women because of reported teratogenic risks. Congenital malformations, such as ectrodactyly, syndactyly, cleft lip/palate, and retarded incisor teeth development, have been reported in experimental animals. However, tooth agenesis due to the use of acetazolamide has not been reported yet. Oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth. The causes of oligodontia are attributed to environmental factors, such as irradiation, drugs, trauma, tumors, infection, genetic factors, or a combination. There is no credible evidence of undesirable effects of acetazolamide use in human pregnancy. However, we report a case of a 12-year-old Saudi boy who was exposed to maternal acetazolamide (1,000 mg/day) for treatment of idiopathic intracranial hypertension before pregnancy, during the first trimester, and throughout the pregnancy. This treatment might have resulted in some congenital malformations, such as ectrodactyly, syndactyly, and oligodontia. PMID:27143854

  5. Abernethy malformation: one of the etiologies of hepatopulmonary syndrome.

    PubMed

    Alvarez, Alfonso E; Ribeiro, Antônio F; Hessel, Gabriel; Baracat, Jamal; Ribeiro, José D

    2002-11-01

    Hepatopulmonary syndrome (HPS) is the clinical relationship between hepatic disease and the existence of pulmonary vascular dilatations, which can result in a range of arterial oxygenation abnormalities. It is probably caused by an alteration in the synthesis or metabolism of vasoactive pulmonary substances at a hepatic level, leading to vasodilatation of pulmonary vessels and diffusion perfusion defects. The Abernethy malformation is characterized by the congenital diversion of portal blood away from the liver, by either end-to-side or side-to-side shunt. Here, we report on a 5-year-and-11-month-old-boy who had started cyanosis at age 4 years and 11 months, and did not have any other pulmonary or cardiac signs or symptoms. In the investigation, arterial blood gases revealed a PaO(2) of 41.4 mm Hg. The chest x-ray film and echo Doppler cardiography were normal. Nuclear scanning with Technetium 99m-labeled macroaggregated albumin showed the presence of arteriovenous shunt, at 47%. Abdominal echography revealed Abernethy malformation with an absence of portal vein. We concluded that the patient had HPS caused by Abernethy malformation. The possible mechanism is that in this malformation, there is a deviation in the blood that comes from the spleen to the vena cava without passing through the liver, so there is no metabolism of some substances which can be responsible for the imbalance between the vasodilatation and the vasoconstriction of the pulmonary circulation. Abernethy malformation must be included as one of the etiologies of hepatopulmonary syndrome. This is the first case described in the literature with this form of presentation.

  6. Nonlocal Intracranial Cavity Extraction

    PubMed Central

    Manjón, José V.; Eskildsen, Simon F.; Coupé, Pierrick; Romero, José E.; Collins, D. Louis; Robles, Montserrat

    2014-01-01

    Automatic and accurate methods to estimate normalized regional brain volumes from MRI data are valuable tools which may help to obtain an objective diagnosis and followup of many neurological diseases. To estimate such regional brain volumes, the intracranial cavity volume (ICV) is often used for normalization. However, the high variability of brain shape and size due to normal intersubject variability, normal changes occurring over the lifespan, and abnormal changes due to disease makes the ICV estimation problem challenging. In this paper, we present a new approach to perform ICV extraction based on the use of a library of prelabeled brain images to capture the large variability of brain shapes. To this end, an improved nonlocal label fusion scheme based on BEaST technique is proposed to increase the accuracy of the ICV estimation. The proposed method is compared with recent state-of-the-art methods and the results demonstrate an improved performance both in terms of accuracy and reproducibility while maintaining a reduced computational burden. PMID:25328511

  7. Genetic Screening of Pediatric Cavernous Malformations.

    PubMed

    Merello, Elisa; Pavanello, Marco; Consales, Alessandro; Mascelli, Samantha; Raso, Alessandro; Accogli, Andrea; Cama, Armando; Valeria, Capra; De Marco, Patrizia

    2016-10-01

    Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries. A total of 9 typical pathogenic loss-of-function mutations were identified in 10 out 31 patients (32 %). The 75 % of familial cases were mutated and the percentage reached to 85 % when we consider only pediatric cases. Detection rate in sporadic cases with multiple lesions was considerably lower (16 %). We identified a novel variant of CCM3, the c.130-131insT (p.R45Efs*8), in 1 pediatric sporadic case with multiple lesions that introduced a premature termination codon into the messenger RNA (mRNA), most likely leading to mRNA decay. Similar to other CCM pediatric series, the main symptoms associated to clinical debut consisted of cerebral hemorrhage. In conclusion, the penetrance of CCM mutations in familial pediatric cases is high (85 %). The genetic workup could improve clinical and genetic counseling in CCM patients. Moreover, we confirmed the high risk of hemorrhage in children with CCMs.

  8. Radiation-induced large intracranial vessel occlusive vasculopathy

    SciTech Connect

    Brant-Zawadzki, M.; Anderson, M.; DeArmond, S.J.; conley, F.K.; Jahnke, R.W.

    1980-01-01

    Two patients who developed large intracranial vessel occlusion after standard radiation therapy for brain tumor are described. This form of vascular occlusion is usually seen in patients who have previously been treated by radiotherapy for intracranial tumor who then develop a relatively acute change in neurologic status. Histology of the lesion mimics accelerated focal arteriosclerosis. The clinical and radiographic manifestations of one case were highly atypical. The vasculopathy became evident shortly after termination of radiation therapy for a fourth ventricular ependymoma, and the angiographic picture stimulated a diffuse arteritis. The second patient was more typical, with clinical symptoms developing 12 years after radiation therapy for an oligodendroglioma. Occlusion of a proximal vessel that had been included in the radiation port was demonstrated radiographically and confirmed by pathologic examination. The clinical, angiographic, and histologic features of these two cases are discussed and previously reported cases are reviewed.

  9. [SURGICAL TREATMENT OF THE FACE CAPILLARY MALFORMATION].

    PubMed

    Galich, S P; Gindich, O A; Dabizha, A Yu; Ogorodnik, Ya P

    2015-08-01

    Results of surgical treatment of 37 patients for the head and neck capillary malformations were analyzed. Optimal surgical tactics, depending on the malformation form and localization, was proposed. Restitution of the tissues defect after excision of malformation, using the flaps transposition, have permitted to achieve good esthetic results.

  10. Pros, cons, and current indications of open craniotomy versus gamma knife in the treatment of arteriovenous malformations and the role of endovascular embolization.

    PubMed

    Surdell, Daniel L; Bhattacharjee, Sumon; Loftus, Christopher M

    2002-06-01

    The successful treatment of an intracranial arteriovenous malformation poses both technical and conceptual problems to the neurosurgeon. Treatment decisions are made in light of current understanding of the natural history of these lesions. It is important to understand the pros, cons and current indication of open craniotomy vs. gamma knife in the treatment of arteriovenous malformations and the role of endovascular embolization. Surgical removal of an arteriovenous malformation is indicated when the operative risk is less than the morbidity and mortality associated with its natural history. The treatment goal of complete angiographic obliteration of arteriovenous malformations is achieved most effectively by microneurosurgery in low-grade lesions. Large lesions frequently require a combination of embolization and microsurgery. Although recent advances in technology and medical management have allowed previously inoperable arteriovenous malformations to be surgically excised, there is still a small group of arteriovenous malformations that cannot be excised safely due to their size and location. Stereotactic radiosurgery is clearly an important adjunct in the multimodality treatment approach for large arteriovenous malformations. Endovascular embolization can potentially increase safety and efficacy in the treatment of arteriovenous malformations when applied to selective cases with well-defined treatment goals.

  11. Compressive hematoma and deep arteriovenous malformation: Emergency endovascular occlusion via a venous approach with surgical evacuation of the hematoma

    PubMed Central

    Chau, Yves; Sachet, Marina; Cattet, Florian; Lonjon, Michel

    2016-01-01

    Compressive hematoma associated with deep arterio-venous malformation is a difficult surgery. Arterial presurgical embolization is often indicated but rarely effective. Endovascular occlusion via a venous approach is a technique that has recently been undertaken successfully to treat certain types of sub-pial vascular malformation. The venous endovascular approach has succeeded in a 20-year-old man of who presented with a compressive hematoma due to rupture of a deep arteriovenous malformation. By fully endovascular occlusion, the surgery consisted of surgical removal of the hematoma, with reduced cortical damage. PMID:26825136

  12. Compressive hematoma and deep arteriovenous malformation: Emergency endovascular occlusion via a venous approach with surgical evacuation of the hematoma.

    PubMed

    Sedat, Jacques; Chau, Yves; Sachet, Marina; Cattet, Florian; Lonjon, Michel

    2016-02-01

    Compressive hematoma associated with deep arterio-venous malformation is a difficult surgery. Arterial presurgical embolization is often indicated but rarely effective. Endovascular occlusion via a venous approach is a technique that has recently been undertaken successfully to treat certain types of sub-pial vascular malformation. The venous endovascular approach has succeeded in a 20-year-old man of who presented with a compressive hematoma due to rupture of a deep arteriovenous malformation. By fully endovascular occlusion, the surgery consisted of surgical removal of the hematoma, with reduced cortical damage.

  13. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  14. Polysplenia with pulmonary arteriovenous malformations.

    PubMed

    Papagiannis, J; Kanter, R J; Effman, E L; Pratt, P C; Marcille, R; Browning, I B; Armstrong, B E

    1993-03-01

    A patient with polysplenia syndrome, dextrocardia, left atrial isomerism, normal great vessel relationships, and no intracardiac shunts developed progressive cyanosis and clubbing. Pulmonary arteriovenous malformations (PAVMs) were diagnosed by angiography and confirmed by lung biopsy. Superior mesenteric arteriogram revealed hypoplasia of the intrahepatic portal vein branches and a portosystemic shunt. The possible etiologies of PAVMs are discussed.

  15. Vascular anomalies of the head and neck in children.

    PubMed

    Mahady, Kate; Thust, Stefanie; Berkeley, Rupert; Stuart, Sam; Barnacle, Alex; Robertson, Fergus; Mankad, Kshitij

    2015-12-01

    Sixty percent of vascular anomalies in children are found in the head and neck. These lesions can present throughout antenatal, perinatal and childhood development. They broadly fall into two categories: vascular tumours and vascular malformations. Their clinical and, often, psychological impact is determined by both pathological type and location: many lesions follow an uncomplicated natural course and other more complex, extensive or progressive lesions can present a threat to life from mass effect, haemorrhage or large volume arteriovenous shunting. Vascular tumours include infantile haemangioma (IH), congenital haemangioma (CH) and kaposiform hemangioendothelioma (KH); of which IH is the most common. Management options for vascular tumours include conservative approaches, oral medications and surgical intervention as determined by tumour type, location and associated complications. Vascular malformations can be categorised into low flow and high flow lesions. Low flow lesions include capillary, venous and lymphatic malformations (LMs). High flow lesions describe the arteriovenous malformations (AVMs), a highly heterogeneous group of lesions which can present in a variety of ways-the mainstay of treatment for these dynamic lesions is endovascular or surgical obliteration. We provide a practical framework for clinical classification of vascular anomalies of the head and neck in children. We also explore principles of their clinical and radiological assessment along with management, highlighting the importance of a multi-disciplinary approach.

  16. Vasospasm after intraventricular hemorrhage caused by arteriovenous malformation

    PubMed Central

    Tseng, Wei-Lung; Tsai, Yi-Hsin

    2015-01-01

    Intraventricular hemorrhage (IVH) induced vasospasm is rare in clinical practice. We report a case with vasospasm 10 days after IVH due to thalamic bleeding from an arteriovenous malformation. The vasospasm was so severe that transarterial embolization failed. Follow-up angiography could not reveal the vascular lesion and spontaneous thrombosis was considered. The discussion includes literature review and possible mechanism of such phenomenon. IVH-related vasospasm is rare but should always be kept in mind. Early detection with proper treatment provides better clinical outcome in such cases. PMID:25972942

  17. Alternating Skew Deviation from Traumatic Intracranial Hypotension

    PubMed Central

    Moster, Stephen J.; Moster, Mark L.

    2014-01-01

    Abstract A 56-year-old woman developed progressive headache, mental status changes, and diplopia after trauma. She was diagnosed with alternating skew deviation caused by intracranial hypotension. This is the first case of alternating skew deviation reported from intracranial hypotension and perhaps a differential pressure between intracranial and intraspinal spaces plays a role in the development of these findings. PMID:27928294

  18. Intracranial calcification in central diabetes insipidus.

    PubMed

    Al-Kandari, Salwa Ramadan; Pandey, Tarun; Badawi, Mona H

    2008-01-01

    Intracranial calcification is a known but extremely rare complication of diabetes insipidus. To date, only 16 patients have been reported and all had the peripheral (nephrogenic) type of diabetes insipidus. We report a child with intracranial calcification complicating central diabetes insipidus. We also report a child with nephrogenic diabetes insipidus, and compare the patterns of intracranial calcification.

  19. Fetal intracranial teratoma. A review.

    PubMed

    Isaacs, Hart

    2014-01-01

    A literature and institutional review of fetal intracranial teratomas yielded 90 tumors. The mean age at ultrasound diagnosis was 32 weeks, ranging from 21 to 41 weeks. Males and females were equally affected. The average, maximum tumor size was 10 cm, varying between 3.5 and 23 cm. Forty-two percent of patients died within the first week of life. Death rate was exceptionally high before 30 weeks gestation where almost half the affected fetuses expired. The overall survival rate for 90 fetuses with intracranial teratoma was only 7.8%.

  20. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series.

    PubMed

    Arora, Nikhil; Juneja, Ruchika; Meher, Ravi; Bhargava, Eishaan K

    2016-09-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition.

  1. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    PubMed Central

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

    2016-01-01

    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

  2. [Emergency cesarean section and craniectomy in a patient with rupture of a cerebral arteriovenous malformation].

    PubMed

    Monsalve-Mejía, G; Palacio, W; Rodríguez, C

    2014-04-01

    The intracerebral hemorrhage in pregnancy is a rare event, but can have catastrophic consequences for both mother and fetus. The management of non-ruptured arteriovenous malformations in pregnancy is not free of controversy in the current literature, as there is the possibility of spontaneous bleeding and becoming a true emergency. We report the case of a pregnant patient of 35 weeks with a diagnosis of a cerebral arteriovenous malformation, who developed a sudden onset of headache, generalized tonic-clonic seizures, loss of consciousness, and hemiparesis with radiological images of an intracranial hematoma with a mass effect, and signs of herniation. The multidisciplinary management is discussed, emphasizing perioperative cesarean approach plus craniotomy and drainage of the hematoma, and subsequent management in intensive care, and definitive management by neuroradiology, with a successful outcome.

  3. Establishment of the intracranial hemodynamic model based on contrast medium and clinical applications

    PubMed Central

    Cheng, Yaoer; He, Wen

    2016-01-01

    Abstract Ischemic cerebrovascular diseases are one of the most common vascular diseases in aged people and CT perfusion (CTP) is a very popular tool to detect the ischemic changes in brain vascular. The present study aims to establish a novel intracranial hemodynamic model to simulate anterior cerebral artery blood flow, and compare the actual and simulated hemodynamic parameters of healthy people and patients with carotid stenosis or occlusion. A mathematical model of the intracranial hemodynamic was generated using MATLAB software, and data from patients with or without infarct disease (57 and 44 cases, respectively) were retrospectively collected to test the new model. The actual time-density curve (TDC) of anterior cerebral artery was obtained from the original intracranial CTP data, and simulated TDC was calculated from our intracranial hemodynamic model. All model parameters were adjusted according to patients’ sex, height, and weight. Time to peak enhancement (TTP), maximum enhancement (ME), and mean transit time (MTT) were selected to evaluate the status of hemodynamics. In healthy people, there were no significant differences of TTP and ME between actual and simulated curves. For patients with infarct symptoms, ME was significantly decreased in actual data compared with simulated curve, while there was no obvious difference of TTP between actual and simulated data. Moreover, MTT was delayed in infarct patients compared with healthy people. Our group generated a computer-based, physiologic model to simulate intracranial hemodynamics. The model successfully simulated anterior cerebral artery hemodynamics in normal healthy people and showed noncompliant ME and MTT in infarct patients, reflecting their abnormal cerebral hemodynamic status. The digital model is reliable and may help optimize the protocol of contrast medium enhancement in intracranial CT, and provide a solid tool to study intracranial hemodynamics. PMID:27930555

  4. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  5. The Horizon for Treating Cutaneous Vascular Lesions

    PubMed Central

    Patel, Amit M.; Chou, Elizabeth L.; Findeiss, Laura; Kelly, Kristen M.

    2013-01-01

    Dermatologists encounter a wide range of cutaneous vascular lesions, including infantile hemangiomas, port-wine stain birthmarks, arteriovenous malformations, venous malformations, Kaposi sarcomas, angiosarcomas, and angiofibromas. Current treatment modalities to reduce these lesions include topical and/or intralesional steroids, laser therapy, surgical resection, and endovascular therapy. However, each method has limitations owing to recurrence, comorbidities, toxicity, or lesion location. Photodynamic therapy, antiangiogenic therapy, and evolving methods of sclerotherapy are promising areas of development that may mitigate limitations of current treatments and offer exciting options for patients and their physicians. PMID:22640429

  6. The horizon for treating cutaneous vascular lesions.

    PubMed

    Patel, Amit M; Chou, Elizabeth L; Findeiss, Laura; Kelly, Kristen M

    2012-06-01

    Dermatologists encounter a wide range of cutaneous vascular lesions, including infantile hemangiomas, port-wine stain birthmarks, arteriovenous malformations, venous malformations, Kaposi sarcomas, angiosarcomas, and angiofibromas. Current treatment modalities to reduce these lesions include topical and/or intralesional steroids, laser therapy, surgical resection, and endovascular therapy. However, each method has limitations owing to recurrence, comorbidities, toxicity, or lesion location. Photodynamic therapy, antiangiogenic therapy, and evolving methods of sclerotherapy are promising areas of development that may mitigate limitations of current treatments and offer exciting options for patients and their physicians.

  7. Coil Embolotherapy of Unilateral Diffuse Pulmonary Arteriovenous Malformations in a Nineteen-Year-Old Woman

    PubMed Central

    Rokni Yazdi, Hadi; Abtahi, Hamidreza; Saberi, Hazhir; Salahi, Mona

    2015-01-01

    Pulmonary arteriovenous malformations (AVMs) are rare vascular malformations of the lung that usually led to a notable risk of serious and life-threatening complications. There is considerable debate about the best management of strategies for the group of patients with diffuse AVMs. Several therapeutic options have been reported for management of this abnormality among which coil embolization is currently the preferred ones. This report describes our experience with the use of coiling method for treatment of multiple AVMs in an adult patient. PMID:26528389

  8. Amphetamine abuse and intracranial haemorrhage.

    PubMed Central

    Buxton, N; McConachie, N S

    2000-01-01

    Amphetamines taken by any route can cause cerebral vasculitis and intracranial haemorrhage. 8 cases were seen in a neurosurgical unit over 3.5 years. The published work indicates that those who experience these complications, mainly young adults, have poor outcomes. PMID:11089483

  9. Intracranial tuberculoma mimicking brain metastasis.

    PubMed

    Salaskar, Abhijit L; Hassaneen, Wael; Keenan, Cheryl H; Suki, Dima

    2015-01-01

    To our knowledge, this is the first report of an intracranial tuberculoma in an immunocompetent patient with a solid primary tumor outside the central nervous system. This case is important because the patient underwent treatment for a presumed brain metastasis, based on the knowledge that a solid extracranial primary tumor was present, but before the brain lesion pathology was determined.

  10. Imaging findings of vascular lesions in the head and neck

    PubMed Central

    Güneyli, Serkan; Ceylan, Naim; Bayraktaroğlu, Selen; Acar, Türker; Savaş, Recep

    2014-01-01

    Vascular lesions of the head and neck include vascular neoplasms, vascular malformations, and hypervascular lesions, derived from nonvascular soft-tissue elements. We retrospectively evaluated magnetic resonance imaging and computed tomography images of vascular lesions located in the head and neck. Twelve patients (seven males, five females) aged 1–68 years (mean age, 35.25 years) were included in this study. Most of the vascular lesions in our study were histologically diagnosed. The lesions were as follows: a hemangioma located in the parotid space (n=1); a hemangioendothelioma located in the parotid space (n=1); a hemangiopericytoma located in the larynx (n=1); a juvenile angiofibroma located in the nasopharynx (n=1); a glomus tumor located in the carotid bifurcation (n=1); venous malformations located in the parapharyngeal space, the pterygoid area, the orbital space, and the larynx (n=4); lymphatic malformations located in the parotid space and the supraclavicular area (n=2); and an arteriovenous malformation located in the infratemporal fossa (n=1). We present rare vascular lesions of the head and neck, which have typical radiological findings. PMID:25010372

  11. [Effects of xenon anesthesia on cerebral blood flow in neurosurgical patients without intracranial hypertension].

    PubMed

    Rylova, A V; Beliaev, A Iu; Lubnin, A Iu

    2013-01-01

    Among anesthetic agents used in neurosurgery xenon appears to be the most advantageous. It preserves arterial blood pressure, assures rapid recovery and neuroprotection. But the data is lacking on xenon effect upon cerebral blood flow under anesthetic conditions. We measured flow velocity in middle cerebral artery in neurosurgical patients without intracranial hypertension during closed circuit xenon anesthesia comparing propofol and xenon effect in the same patients. In our study xenon didn't seem to induce clinically relevant changes in cerebral blood flow and preserved cerebral vascular reactivity thus proving its safety in patients without intracranial hypertension.

  12. Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases

    PubMed Central

    Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.

    2013-01-01

    Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication. PMID:23960313

  13. Vascular ring

    MedlinePlus

    ... with aberrant subclavian and left ligamentum ateriosus; Congenital heart defect - vascular ring; Birth defect heart - vascular ring ... accounts for less than 1% of all congenital heart problems. The condition occurs as often in males ...

  14. Diverse imaging characteristics of a mandibular intraosseous vascular lesion.

    PubMed

    Handa, Hina; Naidu, Giridhar S; Dara, Balaji Gandhi Babu; Deshpande, Ashwini; Raghavendra, Raju

    2014-03-01

    Intraosseous vascular lesions of the maxillofacial region are rare, and the differential diagnosis of intraosseous vascular malformations from other jaw lesions can be challenging. In the present case, magnetic resonance imaging and three-dimensional computed tomographic angiography (CTA) was used for diagnosis, and the lesion was treated wih surgical excision. Diverse characteristics such as the "honeycomb" and "sunburst" radiographic appearances and the absence of major peripheral feeder vessels in the CTA were noted. Intraosseous vascular malformations have a varied radiographic appearance, and the nomenclature of these lesions is equally diverse, with several overlapping terms. Pathologists do not generally differentiate among intraosseous vascular lesions on the basis of histopathology, although these lesions may present with contrasting immunohistochemical and clinical behaviors requiring varied treatment strategies. This case report highlights the need for multiple imaging modalities to differentiate among vascular lesions, as well as to better understand the behaviors of these unique lesions.

  15. An Unusual Case of Post-Traumatic Headache Complicated by Intracranial Hypotension

    PubMed Central

    Siavoshi, Sara; Dougherty, Carrie; Ailani, Jessica; Yadwadkar, Kaustubh; Berkowitz, Frank

    2016-01-01

    We present a case of post-traumatic headache complicated by intracranial hypotension resulting in an acquired Chiari malformation and myelopathy with syringomyelia. This constellation of findings suggest a possible series of events that started with a traumatic cerebral spinal fluid (CSF) leak, followed by descent of the cerebellar tonsils and disruption of CSF circulation that caused spinal cord swelling and syrinx. This unusual presentation of post-traumatic headache highlights the varying presentations and the potential sequelae of intracranial hypotension. In addition, the delayed onset of upper motor neuron symptoms along with initially normal head computerized tomography scan (CT) findings, beg the question of whether or not a post-traumatic headache warrants earlier magnetic resonance imaging (MRI). PMID:28036062

  16. Outcomes of Surgical Treatment of Vascular Anomalies on the Vermilion

    PubMed Central

    Park, Sang Min; Lee, Jae Woo; Kim, Hoon Soo; Lee, In Sook

    2016-01-01

    Background The vermilion plays an important role in both the aesthetic and functional aspects of facial anatomy. Due to its structural features, the complete excision of vascular anomalies on the vermilion is challenging, making it difficult to determine the appropriate treatment strategy. Thus, the authors analyzed the results of surgical treatment of vascular anomalies on the vermilion. Methods The medical records of 38 patients with vascular anomalies on the vermilion who underwent surgery from 1995 to 2013 were analyzed. Nine of the cases had an involuted hemangioma, and 29 cases had a vascular malformation; of the vascular malformations, 13, 11, one, and four cases involved were capillary malformations (CMs), venous malformations (VMs), lymphatic malformations (LMs), and arteriovenous malformations (AVMs), respectively. We investigated the surgical methods used to treat these patients, the quantity of surgical procedures, complications and instances of recurrence, and self-assessed satisfaction scores. Results A total of 50 operations were carried out: 28 horizontal partial excisions, eight vertical partial excisions, and 14 operations using other surgical methods. All cases of AVM underwent complete excision. Six cases experienced minor complications and one case of recurrence was observed. The overall average satisfaction score was 4.1 out of 5, while the satisfaction scores associated with each lesion type were 4.2 for hemangiomas, 3.9 for CMs, 4.2 for VMs, 5.0 for LMs, and 4.0 for AVMs. Conclusions It is difficult to completely excise vascular anomalies that involve the vermilion. This study suggests that partial excision focused on correcting the overall contour of the lips is effective and leads to satisfactory results. PMID:26848441

  17. Management of patients with brain arteriovenous malformations.

    PubMed

    Söderman, Michael; Andersson, Tommy; Karlsson, Bengt; Wallace, M Christopher; Edner, Göran

    2003-06-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms-fixed or unstable-such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably <0.01% and the detection rate is about one per 100,000 person-years. Most AVMs are revealed in patients 20-40 years of age. Therefore, the risk of developing neurological symptoms from an AVM, usually because of haemorrhage, increases with patient age. In the young adult population, AVMs are significant risk factors for hemorrhagic stroke. This risk increases with AVM volume and is higher in centrally located AVMs. Almost all patients with AVM are subjected to treatment, either by surgery, radiosurgery or embolisation, with the functional aim of reducing the risk of haemorrhage or to alleviate neurological symptoms with an acceptable treatment risk. Few neurocentres have physicians highly skilled in all treatment modalities. Therefore, the prescribed treatment may not be defined from an objective assessment of what is optimal for each individual patient, but rather from local expertise. In this context, more and better data about the natural history and the outcome of different treatments, as well as predictive models, would be valuable to help to optimise the management. Management strategies obviously differ according to local preferences, but results presented in the literature suggest the following strategy: (I) cortically located AVMs with a nidus volume <10 ml could be operated, with or without presurgical embolisation, unless there is a single feeder that can easily be catheterised and embolised for

  18. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  19. Intracranial intraaxial cerebral tufted angioma: case report.

    PubMed

    D'Amico, Randy S; Zanazzi, George; Hargus, Gunnar; Dyster, Timothy; Chan, Shirley; Lignelli-Dipple, Angela; Wang, Tony J C; Faust, Phyllis L; McKhann, Guy M

    2017-02-24

    Tufted angioma (TA) is a rare, slow-growing, vascular lesion that commonly presents as a solitary macule, papule, or nodule arising in the soft tissues of the torso, extremities, and head and neck in children and young adults. Adult-onset cases have been infrequently reported. While typically benign, TAs may be locally aggressive. Complete physical examination and hematological workup are recommended in patients with TA to exclude the presence of Kasabach-Merritt phenomenon (KMP). The authors describe the case of a 69-year-old man with a contrast-enhancing frontal lobe lesion, with surrounding vasogenic edema, which was treated by gross-total resection. Characteristic histological features of a TA were demonstrated, with multiple cannonball-like tufts of densely packed capillaries emanating from intraparenchymal vessels in cerebral cortex and adjacent white matter. Tumor recurrence was detected after 4 months and treated with adjuvant Gamma Knife radiosurgery. To the extent of the authors' knowledge, this case illustrates the first report of TA presenting in an adult as an intracranial intraaxial tumor without associated KMP. The fairly rapid regrowth of this tumor, requiring adjuvant treatment after resection, is consistent with a potential for locally aggressive growth in a TA occurring in the brain.

  20. [Slow pressure waves during intracranial hypertension].

    PubMed

    Lemaire, J J

    1997-01-01

    Intracranial pressure waves include fast waves (pulse and respiration) and slow waves. Only the latter are considered here. Since the definition of three wave types in the pioneering works of Janny (1950) and Lundberg (1960), their study of frequential characteristics shows they are included in a spectrum where three contiguous frequency bands are individualised: the B wave band (BW) between 8 x 10(-3) Hz and 50 x 10(-3) Hz; the Infra B band (IB) below 8 x 10(-3) Hz; and the Ultra B band (UB) beyond 50 x 10(-3) Hz to 200 x 10(-3) Hz. The origin of these waves is vascular and some may be physiological. They are probably generated by central neuro-pacemakers and/or cyclic phenomena of cerebral autoregulation. They are linked with slow peripheral arterial pressure waves, with biological rhythms and with biomechanics and vasomotricity in the craniospinal enclosure. They are pathological for the slowest (IB), particularly if they are plateau waves, but the physiologic-pathologic boundary is not yet established for each type of slow waves. They can cause severe consequences if they result in major cerebral perfusion pressure changes, and if they induce or worsen herniations.

  1. Vein of Galen malformation presenting as persistent pulmonary hypertension of newborn (PPHN)

    PubMed Central

    Tiwary, Sangeeta; Geethanath, Ruppa Mohanram; Abu-Harb, Majd

    2013-01-01

    Arteriovenous malformation is a recognised cause of persistent pulmonary hypertension in a newborn (PPHN). Vein of Galen malformation (VOGM) is a rare vascular malformation which can be life-threatening if not diagnosed and treated early. We describe a case of a term baby who presented at day 4 of life with PPHN secondary to VOGM. The neonate underwent two transarterial interventional embolisation procedures on day 9 and then another one due to developing ventricular dilation on day 44. He remains stable since and was doing well at clinical review at 10 weeks and 4 months of age. VOGM usually presents in the neonatal period with high-output cardiac failure. In a baby who presents atypically with pulmonary hypertension, a cranial ultrasound scan should be considered to look for extracardiac shunting in the brain, especially, VOGM. PMID:24072831

  2. Radiographic Findings Associated with Vascular Anomalies

    PubMed Central

    Masand, Prakash

    2014-01-01

    Imaging of patients with vascular tumors and malformations has been sufficiently refined to answer pertinent questions when making treatment decisions in this challenging subgroup of pediatric patients. The imaging modalities at hand include conventional radiography, Doppler ultrasound, and magnetic resonance imaging with time-resolved, contrast-material enhanced magnetic resonance angiography. This review article will focus on the characteristic imaging features of some focal and diffuse vascular lesions, which have been classified by their clinical history and physical exam, and further labeled as a vascular tumor or slow-flow versus high-flow vascular malformation based on the updated classification system proposed by the International Society for the Study of Vascular Anomalies. The recent advances in knowledge regarding the biology of these vascular anomalies have led to increased awareness of the current nomenclature. Moreover, with better understanding of the imaging features, the radiologist has become a key player in the multidisciplinary approach offered at various institutions where appropriate treatment algorithms and interventional strategies are put together. This is crucial in avoiding misdiagnosis and improper management. PMID:25045332

  3. Update on the Molecular Genetics of Vascular Anomalies

    PubMed Central

    WANG, QING K.

    2006-01-01

    Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats’ disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. These findings have made genetic testing possible in some clinical cases, and may lead to the development of therapeutic strategies for vascular anomalies. Furthermore, these studies have identified critical genes involved in vascular morphogenesis, and provided fundamental understanding of the molecular mechanisms underlying vasculogenesis and angiogenesis. PMID:16379592

  4. Update on the molecular genetics of vascular anomalies.

    PubMed

    Wang, Qing K

    2005-01-01

    Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. These findings have made genetic testing possible in some clinical cases, and may lead to the development of therapeutic strategies for vascular anomalies. Furthermore, these studies have identified critical genes involved in vascular morphogenesis, and provided fundamental understanding of the molecular mechanisms underlying vasculogenesis and angiogenesis.

  5. Concurrent arterial aneurysms in brain arteriovenous malformations with haemorrhagic presentation

    PubMed Central

    Stapf, C; Mohr, J; Pile-Spellman, J; Sciacca, R; Hartmann, A; Schumacher, H; Mast, H

    2002-01-01

    Objective: To assess the effect of concurrent arterial aneurysms on the risk of incident haemorrhage from brain arteriovenous malformations (AVMs). Methods: In a cross sectional study, 463 consecutive, prospectively enrolled patients from the Columbia AVM Databank were analysed. Concurrent arterial aneurysms on brain angiography were classified as feeding artery aneurysms, intranidal aneurysms, and aneurysms unrelated to blood flow to the AVM. Clinical presentation (diagnostic event) was categorised as intracranial haemorrhage proved by imaging or non-haemorrhagic presentation. Univariate and multivariate statistical models were applied to test the effect of age, sex, AVM size, venous drainage pattern, and the three types of aneurysms on the risk of AVM haemorrhage at initial presentation. Results: Arterial aneurysms were found in 117 (25%) patients with AVM (54 had feeding artery aneurysms, 21 had intranidal aneurysms, 18 had unrelated aneurysms, and 24 had more than one aneurysm type). Intracranial haemorrhage was the presenting symptom in 204 (44%) patients with AVM. In the univariate model, the relative risk for haemorrhagic AVM presentation was 2.28 (95% confidence interval (CI) 1.12 to 4.64) for patients with intranidal aneurysms and 1.88 (95% CI 1.14 to 3.08) for those with feeding artery aneurysms. In the multivariate model an independent effect of feeding artery aneurysms (odds ratio 2.11, 95% CI 1.18 to 3.78) on haemorrhagic AVM presentation was found. No significant effect was seen for intranidal and unrelated aneurysms. The attributable risk of feeding artery aneurysms for incident haemorrhage in patients with AVM was 6% (95% CI 1% to 11%). Conclusions: The findings suggest that feeding artery aneurysms are an independent determinant for increased risk of incident AVM haemorrhage. PMID:12185161

  6. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    PubMed Central

    Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, Maria A.

    2011-01-01

    Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation. PMID:21504909

  7. Review of familial cerebral cavernous malformations and report of seven additional families.

    PubMed

    de Vos, Ivo J H M; Vreeburg, Maaike; Koek, Ger H; van Steensel, Maurice A M

    2017-02-01

    Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability. Although the clinical course is unpredictable, symptoms typically present during adult life and include headaches, focal neurological deficits, seizures, and potentially fatal stroke. In addition to neural lesions, extraneural cavernous malformations have been described in familial disease in several tissues, in particular the skin. We here present seven novel FCCM families with neurologic and cutaneous lesions. We review histopathological and clinical features and provide an update on the pathophysiology of cerebral cavernous malformations and associated cutaneous vascular lesions. © 2016 Wiley Periodicals, Inc.

  8. Bleeding Scrotal Vascular Lesions: Interventional Management with Transcatheter Embolization

    SciTech Connect

    Jaganathan, Sriram; Gamanagatti, Shivanand Mukund, Amar; Dhar, Anita

    2011-02-15

    Vascular lesions of the scrotum are uncommon; the most common among them are varicocele lesions. The other vascular lesions that may involve the scrotum are hemangioma, lymphangioma, and arteriovenous malformations, which are exceedingly rare. The imaging modalities useful in the diagnosis and management of scrotal vascular lesions are grayscale sonography, color Doppler sonography, magnetic resonance imaging, magnetic resonance angiography, and digital subtraction angiography. We present two cases of scrotal vascular lesions involving the extratesticular scrotal soft tissues. Patients presented with bleeding and were treated by radiological interventional technique. We emphasize the importance of superselective catheterization and distal embolization.

  9. Caution is recommended prior to sildenafil use in vascular anomalies.

    PubMed

    Rankin, Hannah; Zwicker, Kelley; Trenor, Cameron C

    2015-11-01

    Since publication of a single case report of lymphatic malformation improvement during sildenafil therapy for pulmonary hypertension, sildenafil use has propagated across multiple vascular anomalies diagnoses. Vascular anomalies are rare conditions, often with poor long-term outcomes from available therapies, making these patients vulnerable to novel therapy use. We have retrospectively reviewed 14 children with vascular anomalies treated with sildenafil. None of these patients reported improvement of disease while on treatment and some reported side effects including infections and bleeding. Pending more convincing prospective data, we recommend caution prior to sildenafil use for vascular anomalies.

  10. [Angiosarcoma, Raynaud's disease and arteriovenous malformation of the digestive tract. A causal relationship or a chance association?].

    PubMed

    Vaz, F; de Castro, J T; Tomé, V; Marques, J M; de Carvalho, V

    1994-02-01

    A case of angiosarcoma, Raynaud's disease and arteriovenous malformation of the intestinal tract is presented. We propose the association of these three vascular diseases, which has not yet been described. The study of more cases is important in order to understand the physiopathological mechanisms involved.

  11. Impaired cerebral vasoreactivity after embolization of arteriovenous malformations: assessment with serial acetazolamide challenge xenon CT

    SciTech Connect

    Tarr, R.W.; Johnson, D.W.; Horton, J.A.; Yonas, H.; Pentheny, S.; Durham, S.; Jungreis, C.A.; Hecht, S.T. )

    1991-05-01

    Embolization of a portion of the nidus of an arteriovenous malformation not only may alter hemodynamics within the nidus, but also may change blood flow dynamics in adjacent normal vessels. Sequential acetazolamide-challenge xenon CT cerebral blood flow studies were performed in eight patients before and after embolization of arteriovenous malformations to assess the hemodynamic effects on the major vascular territories supplying the malformation. Acetazolamide is a potent cerebral vasodilator, and its administration combined with cerebral blood flow studies allows assessment of cerebral vasoreactivity. In seven of the eight patients, one or more parenchymal areas exhibited a normal cerebral blood flow augmentation response to acetazolamide before embolization, but diminished acetazolamide flow augmentation was seen after embolization, indicating abnormal vasoreactivity. We found that the decrease in vasoreactivity peaked 6-10 days after embolization. In one of the eight patients, a temporary delayed neurologic deficit developed during a period of impaired cerebral vasoreactivity following embolization. Our results suggest that embolization of an arteriovenous malformation can induce vasoreactivity changes in adjacent normal vessels. Because these changes appear to be somewhat time-dependent, an appropriate interval should be observed between embolization stages or before surgical resection of an arteriovenous malformation following embolization to allow hemodynamic equilibration to occur. Acetazolamide challenge combined with serial cerebral blood flow studies following embolization enables determination of this hemodynamic equilibration.

  12. Maternal homocystinuria and Moebius syndrome? Vascular aetiology.

    PubMed

    Gupta, N; Anthony, M Y

    2011-02-14

    A case of Moebius syndrome is reported in an infant of a mother known to have pyridoxine-unresponsive homocystinuria. The authors suggest that Moebius syndrome could result from early vascular insufficiency or disruption occurring early in development related to maternal homocystinuria. Moebius syndrome consists of congenital complete or partial facial nerve palsy with or without paralysis of other cranial nerves and often in association with other malformations of the limbs and orofacial structures, but usually without gross structural brain abnormalities.

  13. Endothelial fluid shear stress sensing in vascular health and disease

    PubMed Central

    Baeyens, Nicolas; Bandyopadhyay, Chirosree; Coon, Brian G.; Yun, Sanguk; Schwartz, Martin A.

    2016-01-01

    Endothelial cells transduce the frictional force from blood flow (fluid shear stress) into biochemical signals that regulate gene expression and cell behavior via specialized mechanisms and pathways. These pathways shape the vascular system during development and during postnatal and adult life to optimize flow to tissues. The same pathways also contribute to atherosclerosis and vascular malformations. This Review covers recent advances in basic mechanisms of flow signaling and the involvement of these mechanisms in vascular physiology, remodeling, and these diseases. We propose that flow sensing pathways that govern normal morphogenesis can contribute to disease under pathological conditions or can be altered to induce disease. Viewing atherosclerosis and vascular malformations as instances of pathological morphogenesis provides a unifying perspective that may aid in developing new therapies. PMID:26928035

  14. Pathogenesis of optic disc edema in raised intracranial pressure.

    PubMed

    Hayreh, Sohan Singh

    2016-01-01

    raised CSFP in patients, by evaluating optic disc and fundus changes by stereoscopic fundus photography and fluorescein fundus angiography. Based on the combined information from all the studies discussed above, it is clear that the pathogenesis of optic disc edema in raised intracranial pressure is a mechanical phenomenon. It is primarily due to a rise of CSFP in the optic nerve sheath, which produces axoplasmic flow stasis in the optic nerve fibers in the surface nerve fiber layer and prelaminar region of the optic nerve head. Axoplasmic flow stasis then results in swelling of the nerve fibers, and consequently of the optic disc. Swelling of the nerve fibers and of the optic disc secondarily compresses the fine, low-pressure venules in that region, resulting in venous stasis and fluid leakage; that leads to the accumulation of extracellular fluid. Contrary to the previous theories, the various vascular changes seen in optic disc edema are secondary and not primary. Thus, optic disc edema in raised CSFP is due to a combination of swollen nerve fibers and the accumulation of extracellular fluid. My studies also provided information about the pathogeneses of visual disturbances in raised intracranial pressure.

  15. PATHOGENESIS OF OPTIC DISC EDEMA IN RAISED INTRACRANIAL PRESSURE

    PubMed Central

    Hayreh, Sohan Singh

    2015-01-01

    raised CSFP in patients, by evaluating optic disc and fundus changes by stereoscopic fundus photography and fluorescein fundus angiography. Based on the combined information from all the studies discussed above, it is clear that the pathogenesis of optic disc edema in raised intracranial pressure is a mechanical phenomenon. It is primarily due to a rise of CSFP in the optic nerve sheath, which produces axoplasmic flow stasis in the optic nerve fibers in the surface nerve fiber layer and prelaminar region of the optic nerve head. Axoplasmic flow stasis then results in swelling of the nerve fibers, and consequently of the optic disc. Swelling of the nerve fibers and of the optic disc secondarily compresses the fine, low-pressure venules in that region, resulting in venous stasis and fluid leakage; that leads to the accumulation of extracellular fluid. Contrary to the previous theories, the various vascular changes seen in optic disc edema are secondary and not primary. Thus, optic disc edema in raised CSFP is due to a combination of swollen nerve fibers and the accumulation of extracellular fluid. My studies also provided information about the pathogeneses of visual disturbances in raised intracranial pressure. PMID:26453995

  16. A discussion of the optimal treatment of intracranial aneurysm rupture in elderly patients.

    PubMed

    Liu, C

    2014-08-25

    This study aimed to find an optimal treatment for intracranial aneurysm rupture in elderly patients. We adopted endovascular embolization and combined it with mini-invasive aspiration, vascular stenosis stenting, and rehabilitation training to treat 13 elderly patients with intracranial aneurysm rupture. When the 13 patients were discharged and evaluated by the Glasgow Outcome Score (GOS), 7 patients were grade 5, 4 patients were grade 4, and 2 patients were grade 2. We found that a combination of endovascular embolization with mini-invasive aspiration and vascular stenosis stenting allowed us to adapt this treatment to various types of aneurysms. Our approach is especially suitable for elderly patients, because it reduces the occurrence of complications, improves patient prognoses, shortens the duration of hospitalization, and improves the quality of life.

  17. Endovascular occlusion of pulmonary arteriovenous malformations with the ArtVentive Endoluminal Occlusion System™

    PubMed Central

    Corvino, Fabio; Silvestre, Mattia; Cervo, Amedeo; Giurazza, Francesco; Corvino, Antonio; Maglione, Franco

    2016-01-01

    Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies of the lung and carry the risk of cerebral thromboembolism, brain abscess, or pulmonary hemorrhage. We describe a 64-year-old male with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who presented with a five-year history of progressive effort dyspnea and a PAVM in the right upper lobe successfully treated by transcatheter embolization of feeding arteries using a new occlusion device, the ArtVentive Endoluminal Occlusion System™. PMID:27559714

  18. Nd:YAG laser offers promising treatment option for familial glomuvenous malformation.

    PubMed

    Phillips, C B; Guerrero, C; Theos, A

    2015-04-16

    Although an uncommon entity, familial glomangiomatosis is often a source of significant discomfort to affected patients and impacts quality of life. Patients develop numerous painful vascular lesions, beginning in childhood. Because management strategies for this entity are sparsely reported in the literature, additional study is needed to establish best practice. We report positive results with the use of Nd:YAG laser in treating symptomatic lesions of familial glomuvenous malformation.

  19. High Flow AV Malformation (A-V Shunt) of Mandible: A Rare Life Threatening Entity

    PubMed Central

    Birmiwal, Krishna Gopal; Kar, Indu Bhusan; Bhuyan, Ruchi; Debta, Priyanka

    2016-01-01

    Intraosseous Arteriovenous Malformations (AVMs) in the head and neck region are very rare and potentially life threatening entities due to massive hemorrhage. These are the results of an embryonic abnormality of the vascular system. Depending on the blood flow and clinical presentations they are of different types like slow flow and high flow AVM. Here we present a case of high flow AVM involving mandible with a chief complain of gingival bleeding in a four year old girl child. PMID:28050516

  20. Pulmonary arteriovascular malformation: a rare cause of unexplained hypoxia and acute dyspnoea in young patients

    PubMed Central

    Iqbal, Nousheen; Rehman, Karim Abdur; Khan, Javaid Ahmed; Haq, Tanveer Ul

    2014-01-01

    Pulmonary arteriovenous malformations (PAVMs) are anomalous vascular connections between arteries and veins in the lung and comprise of two types, simple and complex. PAVMs are associated with congenital conditions such as hereditary haemorrhagic telengiectasia along with acquired causes. We present a case of a 26-year-old man who presented with dyspnoea, palpitations and decreased oxygen saturation as an initial presentation of PAVM, which was treated successively with embolisation. PMID:25527686

  1. Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management

    PubMed Central

    Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.

    2010-01-01

    Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension. PMID:20440631

  2. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  3. Intraoperative monitoring by imaging and electrophysiological techniques during giant intracranial aneurysm surgery.

    PubMed

    Durand, A; Penchet, G; Thines, L

    2016-02-01

    Difficulties in giant intracranial aneurysm surgery are the consequence of aneurysmal wall histology and the complex angioarchitecture of the vascular tree. In order to reduce complications and risks of those procedures, various imaging and electrophysiological techniques can be implemented perioperatively. The authors review the principles, goals and main results in this context of micro-Doppler and flowmeter techniques, near-infrared spectroscopy, operative microscope-integrated indocyanine green video-angiography, neuro-endoscopy, selective intraoperative angiography and electrophysiological monitoring.

  4. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

    PubMed Central

    Eerola, Iiro; Boon, Laurence M.; Mulliken, John B.; Burrows, Patricia E.; Dompmartin, Anne; Watanabe, Shoji; Vanwijck, Romain; Vikkula, Miikka

    2003-01-01

    Capillary malformation (CM), or “port-wine stain,” is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations “CM-AVM,” for capillary malformation–arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. PMID:14639529

  5. Bragg-peak proton-beam therapy for arteriovenous malformations of the brain

    SciTech Connect

    Kjellberg, R.N.; Hanamura, T.; Davis, K.R.; Lyons, S.L.; Adams, R.D.

    1983-08-04

    Patients with arteriovenous malformations of the brain, who are subject to disabling or fatal recurrent hemorrhage, seizures, severe headache, and progressive neurologic deficits, may be considered unsuitable for conventional therapies (craniotomy with excision or embolization), usually because of the location, size, or operative risk of the lesion. We have treated such patients with stereotactic Bragg-peak proton-beam therapy and report the follow-up of 74 of the first 75, 2 to 16 years after treatment. Proton-beam therapy is intended to induce subendothelial deposition of collagen and hyaline substance, which narrows the lumens of small vessels and thickens the walls of the malformation during the first 12 to 24 months after the procedure. Two deaths from hemorrhage occurred in the first 12 months after treatment, but no lethal or disabling hemorrhages occurred after this interval. Seizures, headaches, and progressive neurologic deficits were in most cases arrested or improved. Bragg-peak proton-beam therapy appears to be a useful technique for treatment of intracranial arteriovenous malformations, especially those that are unsuitable for treatment by other methods.

  6. Radiosurgery for brainstem arteriovenous malformation.

    PubMed

    Maruyama, Keisuke; Koga, Tomoyuki; Niranjan, Ajay; Kondziolka, Douglas; Flickinger, John C; Lunsford, L Dade

    2013-01-01

    The authors outlined the treatment result of arteriovenous malformations (AVMs) inside the brainstem by reviewing the 4 existing studies in detail. The majority of patients with brainstem AVMs had a history of hemorrhage, leading to neurological deficits at the time of treatment in 72-73% of patients. The most frequent location was the midbrain or the pons depending on studies, while the medulla oblongata was the least common location throughout the series. The obliteration rate after radiosurgery was 44-73%, which was generally lower than in other locations, while the complication rate was 5-14%, which was expectedly higher than in other locations. No objective evidence for size is known, and therefore, patient selection and treatment planning should be carefully performed after judicious assessment of treatment risks and benefits among limited treatment options.

  7. New insights into craniofacial malformations

    PubMed Central

    Twigg, Stephen R.F.; Wilkie, Andrew O.M.

    2015-01-01

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  8. Photodynamic therapy for palpebral and conjunctival proliferative vascular tumors: clinical case report.

    PubMed

    Sanchez, Carlos Gustavo; Caballero Chávez, Yolanda V; Plazola, Sara

    2009-01-01

    Photodynamic therapy (PDT) has been widely used in ophthalmology for the treatment of diverse pathologies, but no experience has been reported in the handling of patients with palpebral vascular and conjunctive malformations with PDT, we describe the case of one patient with a palpebral proliferative vascular tumor, treated successfully using the PDT as a new treatment alternative.

  9. Multifocal fibrosclerosis with intracranial pachymeningitis.

    PubMed

    Kitano, A; Shimomura, T; Okada, A; Takahashi, K

    1995-04-01

    A 29-year-old woman with a 4-year history of multifocal fibrosclerosis showed unique neurologic complications. Episcleritis, orbital pseudotumor, and eosinophilic phlegmon preceded intracranial inflammatory pachymeningitis. The pachymeningitis was associated with disturbance of the visual field, incomplete Gerstmann's syndrome, and pseudotumor cerebri. T2-weighted magnetic resonance images revealed a high signal intensity lesion in the left temporal and occipital lobes, and gadolinium-enhanced T1-weighted images revealed the enhancement of the thickened left tentorial leaf. The laboratory data suggested that the etiology might be autoimmunological. The disease and MRI abnormalities improved following administration of corticosteroids.

  10. Intracranial complications of transnasal ethmoidectomy.

    PubMed

    Freije, J E; Donegan, J O

    1991-06-01

    The transnasal approach to the ethmoid and sphenoid sinuses is a well-established technique for treating nasal polyposis and chronic sinusitis. The literature supports the effectiveness and safety of this procedure when performed by experienced surgeons. Although various authors allude to catastrophic complications of intranasal ethmoidectomy, there are few case reports of complications involving significant morbidity or mortality. The potential for serious intracranial trauma is present during ethmoid surgery, especially during an intranasal approach due to limited exposure and difficulty in identifying surgical landmarks, but with renewed interest in this approach utilizing endoscopic instrumentation, the risks may be reduced.

  11. Genetic Basis of Brain Malformations

    PubMed Central

    Parrini, Elena; Conti, Valerio; Dobyns, William B.; Guerrini, Renzo

    2016-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations. More recent studies have also established a relationship between lissencephaly, with or without associated microcephaly, corpus callosum dysgenesis as well as cerebellar hypoplasia, and at times, a morphological pattern consistent with polymicrogyria with mutations of several genes (TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, and DYNC1H1), regulating the synthesis and function of microtubule and centrosome key components and hence defined as tubulinopathies. MCD only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular heterotopia, have been associated with abnormalities of the DCX, FLN1A, and ARFGEF2 genes and cause neurological and cognitive impairment that vary from severe to mild deficits. Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration. Localized polymicrogyria has been associated with anatomo-specific deficits, including disorders of language and higher cognition. Polymicrogyria is genetically heterogeneous, and only in a small minority of patients, a definite genetic cause has been identified. Megalencephaly with normal cortex or polymicrogyria by MRI imaging, hemimegalencephaly and focal cortical dysplasia can all result from mutations in genes of the PI3K-AKT-mTOR pathway. Postzygotic mutations have been described for most MCD and can be limited to the dysplastic tissue in the

  12. Perceptual enhancement of arteriovenous malformation in MRI angiography displays

    NASA Astrophysics Data System (ADS)

    Abhari, Kamyar; Baxter, John S. H.; Eagleson, Roy; Peters, Terry; de Ribaupierre, Sandrine

    2012-02-01

    The importance of presenting medical images in an intuitive and usable manner during a procedure is essential. However, most medical visualization interfaces, particularly those designed for minimally-invasive surgery, suffer from a number of issues as a consequence of disregarding the human perceptual, cognitive, and motor system's limitations. This matter is even more prominent when human visual system is overlooked during the design cycle. One example is the visualization of the neuro-vascular structures in MR angiography (MRA) images. This study investigates perceptual performance in the usability of a display to visualize blood vessels in MRA volumes using a contour enhancement technique. Our results show that when contours are enhanced, our participants, in general, can perform faster with higher level of accuracy when judging the connectivity of different vessels. One clinical outcome of such perceptual enhancement is improvement of spatial reasoning needed for planning complex neuro-vascular operations such as treating Arteriovenous Malformations (AVMs). The success of an AVM intervention greatly depends on fully understanding the anatomy of vascular structures. However, poor visualization of pre-operative MRA images makes the planning of such a treatment quite challenging.

  13. Hemodynamic Characterization of Peripheral Arterio-venous Malformations.

    PubMed

    Frey, Sabrina; Haine, A; Kammer, R; von Tengg-Kobligk, H; Obrist, D; Baumgartner, I

    2017-03-21

    Peripheral arterio-venous malformations (pAVMs) are congenital vascular anomalies that require treatment, due to their severe clinical consequences. The complexity of lesions often leads to misdiagnosis and ill-planned treatments. To improve disease management, we developed a computational model to quantify the hemodynamic effects of key angioarchitectural features of pAVMs. Hemodynamic results were used to predict the transport of contrast agent (CA), which allowed us to compare our findings to digital subtraction angiography (DSA) recordings of patients. The model is based on typical pAVM morphologies and a generic vessel network that represents realistic vascular feeding and draining components related to lesions. A lumped-parameter description of the vessel network was employed to compute blood pressure and flow rates. CA-transport was determined by coupling the model to a 1D advection-diffusion equation. Results show that the extent of hemodynamic effects of pAVMs, such as arterial steal and venous hypertension, strongly depends on the lesion type and its vascular architecture. Dimensions of shunting vessels strongly influence hemodynamic parameters. Our results underline the importance of the dynamics of CA-transport in diagnostic DSA images. In this context, we identified a set of temporal CA-transport parameters, which are indicative of the presence and specific morphology of pAVMs.

  14. An Infiltrative Angioarchitectural Variant of Arteriovenous Malformation of Temporalis

    PubMed Central

    Byatnal, Aditi Amit; Rakheja, Mahima; Byatnal, Amit Raghavendra; Narayanaswamy, Venkadasalapathy

    2014-01-01

    Vascular anomalies of the head and neck region pose a certain diagnostic and therapeutic paradox. Management of arteriovenous malformations (AVM) is a challenge owing to the presence of abnormal vascular communications and high recurrence. We report a case of a 19-year-old male patient, who presented with diffuse swelling in the right temporal region. Magnetic Resonance Angiography (MRA) suggested it to be an AVM in the temporalis muscle, having afferents in the ascending pharyngeal artery, with cavernous angioma. Surgical excision of the lesion was carried out under carotid control. Histopathology of the excised specimen utilizing special stains confirmed the presence of AVM. An absence of distinct nidus concomitant along with the exuberant proliferation of capillaries between the muscle fibres suggested it be an infiltrative angioarchitectural variant. The present case highlights significance of diagnosing AVM in temporalis muscle which is a rare occurrence in head and neck region. Also, the importance of ruling out other closely resembling vascular diathesis, both non neoplastic and malignant is discussed. PMID:25386534

  15. Multimodal angiographic assessment of cerebral arteriovenous malformations: a pilot study

    PubMed Central

    Blanc, Raphaël; Seiler, Aude; Robert, Thomas; Baharvahdat, Humain; Lafarge, Maxime; Savatovsky, Julien; Hodel, Jérôme; Ciccio, Gabriele; Chauvet, Dorian; Pistocchi, Silvia; Bartolini, Bruno; Redjem, Hocine; Piotin, Michel

    2015-01-01

    Purpose We describe our protocol of three-dimensional (3D) Roadmap intracranial navigation and image fusion for analysis of the angioarchitecture and endovascular treatment of brain arteriovenous malformations (AVMs). Methods We performed superselective catheterization of brain AVMs feeders under 3D-Roadmap navigation. Angiograms of each catheterized artery on two registered orthogonal views were transferred to the imaging workstations, and dedicated postprocessing imaging software allowed automated multiple overlays of the arterial supply of the AVM superselective acquisitions on the global angiogram in angiographic or 3D views and on coregistered MRI datasets. Results 11 untreated brain AVMs (4 with hemorrhagic presentation) were explored. The superselective acquisitions were performed under 3D-Roadmap navigation in 74 arteries, for a total of 79 targeted arteries. Imaging analysis was available at table side or postoperatively for discussion of the therapeutic strategy. No complications occurred during superselective catheterization. The accuracy of the coregistration of angiogram and MRI was submillimetric after automated mutual information coregistration, with manual re-registration by the physicians. Conclusions Superselective angiograms acquired under 3D-Roadmap navigation can be postprocessed with multiple overlays. The fluoroscopic navigation under 3D-Roadmapping and the coregistration of 3D rotational angiography, selective angiography, and 3D MR datasets appears reliable with millimeter accuracy, and could be implemented in the critical brain AVM embolization setting to allow refined analysis of AVM angioarchitecture. PMID:25280569

  16. Renal tract malformations: perspectives for nephrologists.

    PubMed

    Kerecuk, Larissa; Schreuder, Michiel F; Woolf, Adrian S

    2008-06-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young children, it is now possible to prevent the early death of at least some individuals with severe malformations. Other renal tract malformations, such as congenital pelviureteric junction obstruction and primary vesicoureteric reflux, are relatively common. Renal tract malformations are, collectively, the major cause of childhood end-stage renal disease. Their contribution to the number of adults on renal replacement therapy is less clear and has possibly been underestimated. Renal tract malformations can be familial, and specific mutations of genes involved in renal tract development can sometimes be found in affected individuals. These features provide information about the causes of malformations but also raise questions about whether to screen relatives. Whether prenatal decompression of obstructed renal tracts, or postnatal initiation of therapies such as prophylactic antibiotics or angiotensin blockade, improve long-term renal outcomes remains unclear.

  17. Vascular Engorgement of Lacrimal Gland Associated With Port-Wine Stain.

    PubMed

    Talcott, Katherine E; Lee, Nahyoung Grace; Freitag, Suzanne K

    2016-01-01

    Port-wine stains are congenital dermal capillary malformations that typically involve the head and neck. While most of them are isolated malformations, they have been associated with other vascular findings, including conjunctival, episcleral, and choroidal hemangiomas. They have also been associated with the phakomatosis Sturge-Weber syndrome, characterized by parieto-occipital, leptomeningeal, and ocular choroidal vascular malformations. However, vascular engorgement of the lacrimal gland has not been previously reported in association with port-wine stains. The authors present a case of a 52-year-old man with a long-standing and isolated right periorbital port-wine stain referred for lacrimal gland enlargement on CT scan. He was found to have asymptomatic right lacrimal gland vascular engorgement, which was radiographically stable over a period of 5 years.

  18. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    PubMed

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment.

  19. Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

    PubMed Central

    Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

    2013-01-01

    Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

  20. Cerebral cavernous malformation: new molecular and clinical insights

    PubMed Central

    Revencu, N; Vikkula, M

    2006-01-01

    Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological problems, such as headaches, seizures, focal neurological deficits, and cerebral haemorrhages. CCMs can occur sporadically or as an autosomal dominant condition with variable expression and incomplete penetrance. Familial forms have been linked to three chromosomal loci, and loss of function mutations have been identified in the KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3 genes. Recently, many new pieces of data have been added to the CCM puzzle. It has been shown that the three CCM genes are expressed in neurones rather than in blood vessels. The interaction between CCM1 and CCM2, which was expected on the basis of their structure, has also been proven, suggesting a common functional pathway. Finally, in a large series of KRIT1 mutation carriers, clinical and neuroradiological features have been characterised. These data should lead to more appropriate follow up, treatment, and genetic counselling. The recent developments will also help to elucidate the precise pathogenic mechanisms leading to CCM, contributing to a better understanding of normal and pathological angiogenesis and to the development of targeted treatment. PMID:16571644

  1. PDCD10 gene mutations in multiple cerebral cavernous malformations.

    PubMed

    Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

    2014-01-01

    Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype.

  2. Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke.

    PubMed

    Bertram, Kelly L; Madan, Anoop; Frayne, Judith

    2016-07-01

    Young onset stroke is uncommon, and may be due to conditions other than traditional vascular risk factors. A 42-year-old woman with an ischaemic stroke was found to have left atrial bubble study positivity on transthoracic echocardiogram (TTE) suggestive of patent foramen ovale, however she also had low peripheral oxygen saturation. Investigation revealed an isolated pulmonary arteriovenous malformation (PAVM), visible on admission chest radiograph. This can cause embolic stroke and is an alternate cause of the TTE findings. The PAVM was able to be closed via endovascular intervention, removing the shunt and therefore removing her risk of recurrent stroke events. This is a rare cause of embolic stroke in young people which can be easily missed on investigation yet is amenable to treatment.

  3. Anterior commissure absence without callosal agenesis: a new brain malformation.

    PubMed

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  4. Incidence of intracranial tumors following hospitalization for head injuries (Denmark).

    PubMed

    Inskip, P D; Mellemkjaer, L; Gridley, G; Olsen, J H

    1998-01-01

    The incidence of brain and other intracranial tumors following head trauma was evaluated in a cohort of 228,055 Danish residents hospitalized because of concussion, fractured skull, or other head injury between 1977 and 1992 and followed for an average of eight years (maximum, 17 years). Traffic accidents, falls, and sports-related incidents were the usual causes of the injury. Malignant and benign neoplasms were identified by linking the study roster with records of the Danish Cancer Registry for the years 1977 to 1993. This approach precludes differential reporting of injuries by study participants as an explanation for any associations seen. Intracranial tumors of the nervous system occurred more often than expected based on incidence rates for the Danish population; however, most of the excess occurred during the first year after the injury and likely was due to the detection of tumors that were present before the injury occurred. Excluding the first year of follow-up, the standardized incidence ratio (SIR) was 1.15 (95 percent confidence interval [CI] = 0.99-1.32). The same general temporal pattern was seen for the major subtypes of brain tumor as for all types combined. SIRs after the first year were 1.0 for glioma (CI = 0.8-1.2), 1.2 for meningioma (CI = 0.8-1.7), and 0.8 for neurilemmoma (CI = 0.4-1.7). However, hemangioblastoma and hemangioma were more frequent than expected, based on 15 cases (SIR = 2.6, CI = 1.4-4.2). Results indicate that head trauma causes, at most, a small increase in the overall risk of brain tumors during the ensuing 15 years; however, a possible association with intracranial vascular tumors warrants further evaluation.

  5. A xenograft animal model of human arteriovenous malformations

    PubMed Central

    2013-01-01

    Background Arteriovenous malformations (AVMs) are a type of high-flow vascular malformations that most commonly occurs in the head and neck. They are present at birth but are usually clinically asymptomatic until later in life. The pathogenesis of AVMs remains unclear and therapeutic approaches to AVMs are unsatisfied. In order to provide a tool for studying the pathogenesis and therapies of this disease, we established and studied a xenograft animal model of human AVMs. Methods Fresh human AVMs specimens harvested from 4 patients were sectioned (5x5x5 mm) and xenografted subcutaneously in 5 immunologically naïve nude mice (Athymic Nude-Foxn1nu). Each mouse had four pieces specimens in four quadrants along the back. The grafts were observed weekly for volume, color and texture. The grafts were harvested at every 30 days intervals for histologic examination. All grafts (n = 20) were sectioned and stained for hematoxylin and eosin (H&E). Comparative pathologic evaluation of the grafts and native AVMs were performed by two blinded pathologists. Immunohistochemical examination of human-specific nuclear antigen, vascular endothelial growth factor receptor-2 (VEGFR-2) and Ki-67 was performed. Results Clinical characteristics and pathologic diagnosis of native human derived AVMs were confirmed. 85% (n = 17) of AVM xenografts survived although the sizes decreased after implantation. Histological examination demonstrated numerous small and medium-size vessels and revealed structural characteristics matching the native AVMs tissue.76.5% (n = 13) of the surviving xenografts were positive for Ki-67 and human-specific nuclear antigen suggesting survival of the human derived tissue, 52.9% (n = 9) were positive for VEGFR-2. Conclusions This preliminary xenograft animal model suggests that AVMs can survive in the nude mouse. The presence of human-specific nuclear antigen, VEGFR-2, and Ki-67 demonstrates the stability of native tissue qualities within the

  6. Ultrasound -- Vascular

    MedlinePlus

    ... plan for their effective treatment. detect blood clots (deep venous thrombosis (DVT) in the major veins of ... What are the limitations of Vascular Ultrasound? Vessels deep in the body are harder to see than ...

  7. Vascular Dementia

    MedlinePlus

    ... attack) may increase your risk of developing dementia. Atherosclerosis. This condition occurs when deposits of cholesterol and ... in your arteries and narrow your blood vessels. Atherosclerosis can increase your risk of vascular dementia — and ...

  8. Pediatric cerebral arteriovenous malformations: The role of stereotactic linac-based radiosurgery

    SciTech Connect

    Zabel-du Bois, Angelika . E-mail: A.Zabel@dkfz-heidelberg.de; Milker-Zabel, Stefanie; Huber, Peter; Schlegel, Wolfgang; Debus, Juergen

    2006-07-15

    Purpose: To evaluate retrospectively clinical outcome and obliteration rates after linac-based radiosurgery (RS) in children with cerebral arteriovenous malformations (AVM). Methods and Materials: Between 1996 and 2002, 22 children with cerebral AVM were treated at our institution. Mean age at treatment was 11.8 years (range, 4.4-16.4 years). Classification according to Spetzler-Martin was 1 child grade I (4%), 7 grade II (32%), 12 grade III (56%), 1 grade IV (4%), and 1 grade V (4%). Median single dose was 18 Gy/80%-isodose. Median AVM volume was 4.2 mL (range, 0.4-26.5 mL). Median RS-based AVM-score was 1.07 (range, 0.61-3.55). Fifty-nine percent of children experienced intracranial hemorrhage before RS. Median follow-up was 3.1 years (range, 1.7-7.3 years). Results: Actuarial complete obliteration rate (CO) was 54% after 3 years and 65% after 4 years, respectively. Median time interval to CO was 27.1 months. Intracranial hemorrhage after RS was seen in five children after median 13.9 months. Annual bleeding risk was 9.1% after 1 year and 13.6% after 2 years. Maximum diameter {>=}3 cm and AVM-volume {>=}6 mL were significant predictors for intracranial hemorrhage. Neurologic deficits were improved/completely dissolved in 58% of children and remained stable in 42%. No new onset of neurologic dysfunction was seen after RS. Conclusions: RS is safe and effective in pediatric cerebral AVM with high obliteration rates. Size and volume of AVM are significant predictors for intracranial bleeding. The same treatment guidelines as in adults should be applied. Careful long-term follow-up observation is required after RS from long life expectation.

  9. [Central nervous system malformations: neurosurgery correlates].

    PubMed

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-06

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  10. Inner ear malformations: a practical diagnostic approach.

    PubMed

    Mazón, M; Pont, E; Montoya-Filardi, A; Carreres-Polo, J; Más-Estellés, F

    2016-12-29

    Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

  11. Durable response of intracranial cellular hemangioma to bevacizumab and temozolomide.

    PubMed

    Yeo, Kee Kiat; Puscasiu, Elena; Keating, Robert F; Rood, Brian R

    2013-06-01

    Cellular hemangioma is a subtype of hemangioma that is associated with cellular immaturity and the potential for recurrence. Intracranial location of these lesions is extremely rare, and definitive treatment often requires radical neurosurgical resection. The authors report a case of a 12-year-old boy with a subtemporal cellular hemangioma. He underwent gross-total resection of the tumor, but within 1.5 months the tumor recurred, necessitating a second resection. Because of its proximity to vascular structures, only subtotal resection was possible. Repeat MRI 1 month after the second surgery showed significant tumor recurrence. Given the tumor's demonstrated capacity for recurrence and its proximity to the vein of Labbé and sigmoid sinus, further resection was not indicated. In an effort to limit radiation therapy for this young patient, treatment with bevacizumab and temozolomide was chosen and achieved a complete response that has proven durable for 36 months after cessation of therapy. This is the first report of the successful use of chemotherapy to treat an intracranial hemangioma, a rare condition with limited therapeutic options.

  12. Intracranial Pseudoaneurysms, Fusiform Aneurysms and Carotid-Cavernous Fistulas

    PubMed Central

    Lv, Xianli; Jiang, Chuhan; Li, Youxiang; Lv, Ming; Zhang, Jingbo; Wu, Zhongxue

    2008-01-01

    Summary The study assessed the effectiveness and safety of endovascular covered stents in the management of intracranial pseudoaneurysms, fusiform aneurysms and direct carotid-cavernous fistulas. Fourteen endovascular covered stents were used to repair three pseudoaneurysms, six fu-siform aneurysms and six direct carotid-cavernous fistulas. Aneurysms were in the carotid artery in seven cases, in the vertebral artery two cases. It was not possible to treat two additional cases transcutaneously for technical reasons
2/15. Percutaneous closure of the lesions with an endovascular covered stent was successful in 13 of 15 cases. Initial follow-up showed good stent patency. No complications were observed after stent implantation. During follow-up, stent thromboses were detected in two of nine patients with follow-up digital subtracted angiography. One carotid-cavernous fistula of Barrow Type A transformed into Barrow Type D at nine month follow-up study was cured with a procudure of Onyx-18 injection. Endovascular covered stents may be an option for percutaneous closure of intracranial pseudoaneurysms, fusiform aneurysms and direct carotid-cavernous fistulas. Endoluminal vascular repair with covered stents offers an alternative therapeutic approach to conventional modalities. PMID:20557743

  13. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  14. The Microcephaly-Capillary Malformation Syndrome

    PubMed Central

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

    2012-01-01

    We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

  15. Validation of Blood Flow Simulations in Intracranial Aneurysms

    NASA Astrophysics Data System (ADS)

    Yu, Yue; Anor, Tomer; Baek, Hyoungsu; Jayaraman, Mahesh; Madsen, Joseph; Karniadakis, George

    2010-11-01

    Catheter-based digital subtraction angiography (DSA) is the most accurate diagnostic procedure for investigating vascular anomalies and cerebral blood flow. Here we describe utilization of DSA in a patient with an intracranial aneursysm to validate corresponding spectral element simulations. Subsequently, we examine via visualization the structure of flow in internal carotid arteries laden with three different types of aneurysms: (1) a wide-necked saccular aneurysm, (2) a narrower-necked saccular aneurysm, and (3) a case with two adjacent saccular aneurysms. We have found through high resolution simulations that in cases (1) and (3) in physiological conditions a hydrodynamic instability occurs during the decelerating systolic phase resulting in a high frequency oscillation (20-50 Hz). We use the in-silico dye visualization to discriminate among different physical mechanisms causing the instability and contrast their effect with case (2) for which an instability arises only at much higher flowrates.

  16. [Neurologic complications of subarachnoid hemorrhage due to intracranial aneurysm rupture].

    PubMed

    Rama-Maceiras, P; Fàbregas Julià, N; Ingelmo Ingelmo, I; Hernández-Palazón, J

    2010-12-01

    The high rates of morbidity and mortality after subarachnoid hemorrhage due to spontaneous rupture of an intracranial aneurysm are mainly the result of neurologic complications. Sixty years after cerebral vasospasm was first described, this problem remains unsolved in spite of its highly adverse effect on prognosis after aneurysmatic rupture. Treatment is somewhat empirical, given that uncertainties remain in our understanding of the pathophysiology of this vascular complication, which involves structural and biochemical changes in the endothelium and smooth muscle of vessels. Vasospasm that is refractory to treatment leads to cerebral infarction. Prophylaxis, early diagnosis, and adequate treatment of neurologic complications are key elements in the management of vasospasm if neurologic damage, lengthy hospital stays, and increased use of health care resources are to be avoided. New approaches to early treatment of cerebral lesions and cortical ischemia in cases of subarachnoid hemorrhage due to aneurysm rupture should lead to more effective, specific management.

  17. Biomarkers of connective tissue disease in patients with intracranial aneurysms.

    PubMed

    Yurt, Alaattin; Vardar, Enver; Selçuki, Mehmet; Ertürk, Ali Riza; Ozbek, Gülriz; Atçi, Burak

    2010-09-01

    Connective tissue defects may play a significant role in the development of intracranial aneurysms (IAs). Multiorgan connective tissue disorders may, therefore, indicate a risk of IA development. We investigated biomarkers of connective tissue disease in patients with IAs. A series of 62 patients with IAs was studied by physical examination, echocardiography, ultrasound examination of the kidneys and abdomen, and microscopic examination of skin tissue (temporal area) and superficial temporal artery taken at operation. Patients with IAs had a higher incidence of biomarkers of systemic connective tissue disease than controls and identification of these markers may be important for screening for IAs. Microscopic investigation of biopsies of the skin and superficial temporal artery from patients and their relatives may become valuable for clinical diagnosis, identification of people at risk and basic studies of the pathogenesis of this vascular disease.

  18. Coil Embolization for Intracranial Aneurysms

    PubMed Central

    2006-01-01

    Executive Summary Objective To determine the effectiveness and cost-effectiveness of coil embolization compared with surgical clipping to treat intracranial aneurysms. The Technology Endovascular coil embolization is a percutaneous approach to treat an intracranial aneurysm from within the blood vessel without the need of a craniotomy. In this procedure, a microcatheter is inserted into the femoral artery near the groin and navigated to the site of the aneurysm. Small helical platinum coils are deployed through the microcatheter to fill the aneurysm, and prevent it from further expansion and rupture. Health Canada has approved numerous types of coils and coil delivery systems to treat intracranial aneurysms. The most favoured are controlled detachable coils. Coil embolization may be used with other adjunct endovascular devices such as stents and balloons. Background Intracranial Aneurysms Intracranial aneurysms are the dilation or ballooning of part of a blood vessel in the brain. Intracranial aneurysms range in size from small (<12 mm in diameter) to large (12–25 mm), and to giant (>25 mm). There are 3 main types of aneurysms. Fusiform aneurysms involve the entire circumference of the artery; saccular aneurysms have outpouchings; and dissecting aneurysms have tears in the arterial wall. Berry aneurysms are saccular aneurysms with well-defined necks. Intracranial aneurysms may occur in any blood vessel of the brain; however, they are most commonly found at the branch points of large arteries that form the circle of Willis at the base of the brain. In 85% to 95% of patients, they are found in the anterior circulation. Aneurysms in the posterior circulation are less frequent, and are more difficult to treat surgically due to inaccessibility. Most intracranial aneurysms are small and asymptomatic. Large aneurysms may have a mass effect, causing compression on the brain and cranial nerves and neurological deficits. When an intracranial aneurysm ruptures and bleeds

  19. Spontaneous Intracranial Hypotension Presenting as a "Pseudo-Chiari 1

    PubMed Central

    Haider, Ali S; Sulhan, Suraj; Watson, Ian T; Leonard, Dean; Arrey, Eliel N; Nguyen, Phu; Layton, Kennith F

    2017-01-01

    Spontaneous intracranial hypotension (SIH) is classified as a decrease in cerebrospinal fluid (CSF) pressure secondary to a CSF leakage and consequent descent of the brain into the foramen magnum. Diagnosing SIH can be difficult due to its overlapping findings with Arnold-Chiari type 1 Malformation (CM1) where the cerebellar tonsils herniate into the foramen magnum. The similarity of both conditions calls for a more reliable imaging technique to localize the CSF leak which could narrow the differential diagnosis and aid in choosing the correct treatment. Here, we present a case of a 28-year-old female, ten weeks post-partum with symptoms similar to SIH. MRI of the brain was remarkable for tonsillar herniation below the foramen magnum. Literature was reviewed for additional neuroradiology techniques that would aid in narrowing our differential diagnosis. Interestingly, computed tomography-, digital subtraction-, and magnetic resonance myelography with intrathecal gadolinium are the preferred techniques for diagnosis of high flow and low flow CSF leaks, respectively. These modalities further aid in choosing the correct treatment while avoiding complications. Literature suggests that treatment for CM1 involves posterior fossa decompression, whereas the mainstay of treatment for SIH involves an epidural blood patch (EBP). Thus, our patient was treated with an EBP and recovered without complication. PMID:28357166

  20. Intracranial recordings and human memory.

    PubMed

    Johnson, Elizabeth L; Knight, Robert T

    2015-04-01

    Recent work involving intracranial recording during human memory performance provides superb spatiotemporal resolution on mnemonic processes. These data demonstrate that the cortical regions identified in neuroimaging studies of memory fall into temporally distinct networks and the hippocampal theta activity reported in animal memory literature also plays a central role in human memory. Memory is linked to activity at multiple interacting frequencies, ranging from 1 to 500Hz. High-frequency responses and coupling between different frequencies suggest that frontal cortex activity is critical to human memory processes, as well as a potential key role for the thalamus in neocortical oscillations. Future research will inform unresolved questions in the neuroscience of human memory and guide creation of stimulation protocols to facilitate function in the damaged brain.

  1. [Radiotherapy of benign intracranial tumors].

    PubMed

    Delannes, M; Latorzeff, I; Chand, M E; Huchet, A; Dupin, C; Colin, P

    2016-09-01

    Most of the benign intracranial tumors are meningiomas, vestibular schwannomas, pituitary adenomas, craniopharyngiomas, and glomus tumors. Some of them grow very slowly, and can be observed without specific treatment, especially if they are asymptomatic. Symptomatic or growing tumors are treated by surgery, which is the reference treatment. When surgery is not possible, due to the location of the lesion, or general conditions, radiotherapy can be applied, as it is if there is a postoperative growing residual tumor, or a local relapse. Indications have to be discussed in polydisciplinary meetings, with precise evaluation of the benefit and risks of the treatments. The techniques to be used are the most modern ones, as multimodal imaging and image-guided radiation therapy. Stereotactic treatments, using fractionated or single doses depending on the size or the location of the tumors, are commonly realized, to avoid as much a possible the occurrence of late side effects.

  2. Remotely-powered intracranial pressure monitor

    NASA Technical Reports Server (NTRS)

    Fryer, T. B.

    1979-01-01

    Implantable RF powered monitor uses capacitive transducer and stiff metal diaphragm that gives high stability for long term intracranial pressure monitoring. Design of monitor reduces risk of infection while improving patient comfort and mobility.

  3. Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by KRIT1 Gene Mutations

    PubMed Central

    Toll, Agustí; Parera, Elisabet; Giménez-Arnau, Ana M.; Pou, Alejandro; Lloreta, Josep; Limaye, Nisha; Vikkula, Miikka; Pujol, Ramon M.

    2009-01-01

    Background Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Although often asymptomatic, seizures, cerebral haemorrhages and focal neurological deficits are well-documented complications. Mutations in the CCM1 (7q21–22), CCM2 (7p13–15) and CCM3 (3q25.2–27) genes have been identified in familial CCM. In rare instances, the association of congenital hyperkeratotic cutaneous capillary-venous malformations (HCCVMs) with CCM1 has been reported. Observations: We studied 6 members of a family with CCMs. Four members of the family developed late-onset multiple, tiny, bluish, soft, cutaneous papules, mainly located on the face, arm and abdominal area, corresponding histologically to venous malformations. A splice donor site mutation in intron 4 (c. 1146 + 1 G→A) in the CCM1 gene was identified. Conclusions Our findings suggest that mutations in the KRIT1 gene may cause phenotypically heterogeneous cutaneous vascular lesions other than those previously described as HCCVMs. PMID:19182478

  4. Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

    PubMed Central

    Soblet, J.; Limaye, N.; Uebelhoer, M.; Boon, L.M.; Vikkula, M.

    2013-01-01

    Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in TIE2. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in TIE2. These include a frequent L914F change, and a series of double mutations in cis. All of which cause ligand-independent receptor hyperphosphorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of TIE2 in cDNA from resected VMs by direct sequencing. We detected TIE2 mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular TIE2 mutations in sporadic VMs, including 3 that cause premature protein truncation. PMID:23801934

  5. Precursors to Rapid Elevations in Intracranial Pressure

    DTIC Science & Technology

    2007-11-02

    difference between the systemic arterial blood pressure and the intracranial pressure , CPP = ABP − ICP. 2Ischemia is a decrease in blood supply...and the average arterial blood pressure , µABP, were consistently higher. Our results seem to be inconsistent with the observations of previous studies...1 PRECURSORS TO RAPID ELEVATIONS IN INTRACRANIAL PRESSURE James McNames1, Cristina Crespo1, Mateo Aboy1, Miles Ellenby2, Susanna Lai2, Robert

  6. Intracranial-to-intracranial bypass for posterior inferior cerebellar artery aneurysms: options, technical challenges, and results in 35 patients.

    PubMed

    Abla, Adib A; McDougall, Cameron M; Breshears, Jonathan D; Lawton, Michael T

    2016-05-01

    OBJECT Intracranial-to-intracranial (IC-IC) bypasses are alternatives to traditional extracranial-to-intracranial (EC-IC) bypasses to reanastomose parent arteries, reimplant efferent branches, revascularize branches with in situ donor arteries, and reconstruct bifurcations with interposition grafts that are entirely intracranial. These bypasses represent an evolution in bypass surgery from using scalp arteries and remote donor sites toward a more local and reconstructive approach. IC-IC bypass can be utilized preferentially when revascularization is needed in the management of complex aneurysms. Experiences using IC-IC bypass, as applied to posterior inferior cerebellar artery (PICA) aneurysms in 35 patients, were reviewed. METHODS Patients with PICA aneurysms and vertebral artery (VA) aneurysms involving the PICA's origin were identified from a prospectively maintained database of the Vascular Neurosurgery Service, and patients who underwent bypass procedures for PICA revascularization were included. RESULTS During a 17-year period in which 129 PICA aneurysms in 125 patients were treated microsurgically, 35 IC-IC bypasses were performed as part of PICA aneurysm management, including in situ p3-p3 PICA-PICA bypass in 11 patients (31%), PICA reimplantation in 9 patients (26%), reanastomosis in 14 patients (40%), and 1 V3 VA-to-PICA bypass with an interposition graft (3%). All aneurysms were completely or nearly completely obliterated, 94% of bypasses were patent, 77% of patients were improved or unchanged after treatment, and good outcomes (modified Rankin Scale ≤ 2) were observed in 76% of patients. Two patients died expectantly. Ischemic complications were limited to 2 patients in whom the bypasses occluded, and permanent lower cranial nerve morbidity was limited to 3 patients and did not compromise independent function in any of the patients. CONCLUSIONS PICA aneurysms receive the application of IC-IC bypass better than any other aneurysm, with nearly one

  7. [Hyperkalemia caused by intravenous administration of mannitol in a patient with arteriovenous malformation: case report].

    PubMed

    Kimura, Shigeyoshi; Ogawa, Haruhiko; Katayama, Yoichi

    2006-01-01

    We experienced a case in which hyperkalemia was induced by mannitol administration. The medication with mannitol was given to a 15-year-old male patient who underwent a removal operation for arteriovenous malformation under general anesthesia. Following the mannitol infusion, his arterial blood gas and electrolyte analysis revealed severe metabolic acidosis and an increase in serum potassium. Furthermore, a change in his electrocardiogram was observed. The hyperkalemia was quickly normalized by medication with calcium gluconate and sodium bicarbonate. We stopped the removal operation with the aim of giving priority to the patient's safety. It is speculated that the hyperkalemia was caused by the administration of mannitol. Checks of electrolyte levels, arterial blood gas analysis and electrocardiogram monitoring should therefore be carried out when using mannitol, especially in an emergency situation such as intracranial hemorrhage.

  8. Cerebral Cavernous Malformations: Review of the Genetic and Protein–Protein Interactions Resulting in Disease Pathogenesis

    PubMed Central

    Baranoski, Jacob F.; Kalani, M. Yashar S.; Przybylowski, Colin J.; Zabramski, Joseph M.

    2016-01-01

    Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged “cavernous” endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis. Since our last review of the molecular genetics of CCM pathogenesis in 2012, breakthroughs include a more thorough understanding of the protein structures of the gene products, involvement with integrin proteins, and MEKK3 signaling pathways, and the importance of CCM2–PDCD10 interactions. In this review, we highlight the advances that further our understanding of the “gene to protein to disease” relationships of CCMs. PMID:27896269

  9. Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis.

    PubMed

    Baranoski, Jacob F; Kalani, M Yashar S; Przybylowski, Colin J; Zabramski, Joseph M

    2016-01-01

    Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged "cavernous" endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis. Since our last review of the molecular genetics of CCM pathogenesis in 2012, breakthroughs include a more thorough understanding of the protein structures of the gene products, involvement with integrin proteins, and MEKK3 signaling pathways, and the importance of CCM2-PDCD10 interactions. In this review, we highlight the advances that further our understanding of the "gene to protein to disease" relationships of CCMs.

  10. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-09-24

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered.

  11. Pain Management Following Major Intracranial Surgery in Pediatric Patients: A Prospective Cohort Study in Three Academic Children’s Hospitals

    PubMed Central

    Maxwell, Lynne G.; Buckley, George M.; Kudchadkar, Sapna R.; Ely, Elizabeth; Stebbins, Emily L.; Dube, Christine; Morad, Athir; Jastaniah, Ebaa A.; Sethna, Navil F.; Yaster, Myron

    2014-01-01

    Introduction Pain management following major intracranial surgery is often limited by a presumed lack of need and a concern that opioids will adversely affect postoperative outcome and interfere with the neurologic examination. Nevertheless, evidence in adults is accumulating that these patients suffer moderate to severe pain and this pain is often under-treated. The purpose of this prospective, clinical observational cohort study was to assess the incidence of pain, prescribed analgesics, methods of analgesic delivery, and patient/parent satisfaction in pediatric patients undergoing cranial surgery at 3 major university children’s hospitals. Methods After obtaining IRB and parental consent (and when applicable, patient assent), children who underwent cranial surgery for cancer, epilepsy, vascular malformations, and craniofacial reconstruction were studied. Neither intraoperative anesthetic management nor postoperative pain management was standardized, but were based on institutional routine. Patients were evaluated daily by a study investigator and by chart review for pain scores using age appropriate, validated tools (FLACC, Faces Pain Scale-Revised, Wong Baker Faces Scale or Self-Report on a 0–10 scale), for patient/parent satisfaction using a subset of the NRC Picker satisfaction tool and in adolescents a modified QoR-40, and for the frequency, mode of administration, and type of analgesic provided. Finally, the incidence of opioid-induced side effects, specifically nausea, vomiting, pruritus, altered level of consciousness, and need for emergency diagnostic radiologic studies for altered neurologic examination were recorded. Data are provided as mean ± SD. Results Two hundred children (98:102 M:F), averaging 7.8 ± 5.8 years old (range 2 mos to 18.5 yr) and 32.2 ± 23.0 kg (range 4.5 to 111.6 kg) undergoing craniectomy (51), craniotomy (96), and craniofacial reconstruction (53) were studied. Despite considerable variation in mode and route of analgesic

  12. Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis.

    PubMed

    Ranger, Adrianna; Al-Hayek, Ali; Matic, Damir

    2010-03-01

    There seems to be an association between type 1 Chiari malformation (CM) and some congenital craniosynostosis syndromes. Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatschädel deformity), prominent ptosis, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type 1 or 2 fibroblast growth factor receptor. These children generally do poorly because of significant often severe neurologic and cognitive defects, and many die very young. Roughly half of all patients with Pfeiffer syndrome, and virtually all with type 2 disease, also have type 1 CM. Chiari malformation may not be congenital but acquired as a consequence of the skull deformities and other associated intracranial factors in patients with craniosynostosis. We report a term male infant with type 2 Pfeiffer syndrome, who was not noted to have any CM on initial brain imaging done at 2 months but in whom repeated imaging demonstrated clear evidence of CM by 4 months, despite reconstructive craniotomies and unilateral ventriculoperitoneal shunt insertion. Posterior fossa decompression yielded a good result. This patient provides further evidence to support the concept of acquired tonsillar herniation in patients with craniosynostosis syndromes. The etiology seems multifactorial and related to (1) the disproportionately slow growth of the skull relative to the brain, particularly in the posterior fossa, secondary to early fusion of skull sutures, in turn secondary to congenital deficiencies in fibroblast growth factor receptors; (2) impaired venous sinus drainage; (3) hydrocephalus; and (4) resultant elevations in intracranial pressure.

  13. [Hemoptysis in a child with cervical and pulmonary arteriovenous malformation. Case report].

    PubMed

    Cuestas, Giselle; Demarchi, María Victoria; Martínez Corvalán, María Pía; Razetti, Juan; Boccio, Carlos

    2015-01-01

    Hemoptysis is the expectoration of blood from the subglottic airway. The main causes in children are infections of the lower respiratory tract and aspiration of foreign bodies. Pulmonary arteriovenous malformation is a rare etiology of hemoptysis, which involves abnormal communication between the arterial and venous system. Most vascular malformations are present at birth and enlarge proportionately with the growth of the child. Signs and symptoms include dyspnea, exercise intolerance, cyanosis and hemorrhagic or neurologic complications. We describe the clinical manifestations, diagnostic methods and treatment of a child with this disease. We emphasize the importance of efficient systematic evaluation in every child with hemoptysis to identify the underlying etiology, since immediate treatment is essential because of the potential severity of this condition.

  14. Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype

    PubMed Central

    Chan, Aubrey C.; Li, Dean Y.; Berg, Michel J.; Whitehead, Kevin J.

    2010-01-01

    Cerebral cavernous malformations are common vascular lesions of the central nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have identified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and possible signaling pathways. A variety of animal models of CCM have been described to help translate the cellular and biochemical insights into a better understanding of disease mechanism. In this minireview, we discuss the contributions of animal models to our growing understanding of the biology of cavernous malformations, including the elucidation of the cellular context of CCM protein actions and the in vivo confirmation of abnormal endothelial cell–cell interactions. Challenges and progress towards developing a faithful model of CCM biology are reviewed. PMID:20096037

  15. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

    PubMed

    Scimone, Concetta; Bramanti, Placido; Ruggeri, Alessia; Katsarou, Zoe; Donato, Luigi; Sidoti, Antonina; D'Angelo, Rosalia

    2015-11-01

    Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered.

  16. Evaluation of measures of technical image quality for intracranial magnetic resonance angiography.

    PubMed

    Chapman, B E; Goodrich, C K; Alexander, A L; Blatter, D D; Parker, D L

    1999-12-01

    We evaluate three measures of technical image quality for intracranial magnetic resonance angiography (MRA): (1) a two-alternative forced choice (2AFC) evaluation of vessel visibility, (2) vessel-to-background signal-difference-to-noise ratio (SDNR), and (3) observer ranking of the fidelity of vessel morphology compared to that in a gold standard image. The gold standard used for both the 2AFC and ranking measures is intraarterial catheter angiography. These measures are applied to healthy arterial segments. The 2AFC and SDNR measures directly evaluate the visibility of artery segments for which the existence is known from the gold standard images. We argue that (1) 2AFC evaluates the carrier signals on which any vascular disease process is modulated and provides an upper bound on the detectibility of vascular lesions, (2) SDNR is a predictor of 2AFC, and (3) ranking may be used to predict the relative performance of techniques in the detection of vascular lesions.

  17. Ovine craniofacial malformation: a morphometrical study.

    PubMed

    Eriksen, T; Kuiper, H; Pielmeier, R; Ganter, M; Distl, O; Staszyk, C

    2012-12-01

    Craniofacial malformation in 64 sheep was phenotypically described as mandibular distoclusion. Digital radiographs were examined in order to determine the degree of morphological changes in certain bones of the skull. Therefore, laterolateral standardised digital radiographs were used to determine anatomic reference points. Subsequently, five reference lines were defined and 16 linear and seven angular measurements were determined to describe malformations in the bones of the skull. Statistical analysis revealed a significant shortening of the rostral part of the corpus mandibulae and of the ramus mandibulae. However, the molar part of the mandible remained unchanged. These morphological changes caused premolar and molar malocclusion. No further craniofacial abnormalities, such as an elongation of the maxilla or of the incisive bone, were identified. In conclusion, the phenotypically observed mandibular distoclusion is caused by a shortening of specific parts of the mandible. This form of ovine craniofacial malformation is therefore best described as brachygnathia inferior.

  18. Debendox in early pregnancy and fetal malformation.

    PubMed

    Fleming, D M; Knox, J D; Crombie, D L

    1981-07-11

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic.

  19. Debendox in early pregnancy and fetal malformation.

    PubMed Central

    Fleming, D M; Knox, J D; Crombie, D L

    1981-01-01

    During the mid-1960s, 22 977 pregnant women in Scotland and England were followed up prospectively for the incidence of malformations in their infants evident at birth or within six weeks. During the first 13 weeks of gestation 620 of these women had been prescribed Debendox (dicyclomine-doxylamine-pyridoxine) and 743 other women agents other than Debendox containing pyridoxine. Of the 620 women given Debendox, 589 (95%) had a normal outcome of pregnancy, 8 (13%) delivered a malformed infant, and 23 (3.7%) had other outcomes. Of the 22 357 women who were given Debendox, 445 (2.0%) produced infants with malformation; and the rates for all abnormal outcomes among women given Debendox and those not given the drug were 5.0% and 5.4% respectively. These results support the hypothesis that Debendox is not teratogenic. PMID:6789952

  20. [Diagnosis and management of Mondini malformation].

    PubMed

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  1. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

  2. Treatment of Giant Intracranial Aneurysms

    PubMed Central

    Lv, X.; Jiang, C.; Li, Y.; Yang, X.; Zhang, J.; Wu, Z.

    2009-01-01

    Summary We report on report the clinical outcome obtained in treatment of giant intracranial aneurysms (GAs). Between 2005 and 2007, 51 patients with 51 GAs presented at our hospital. Twentynine were treated with primary parent vessel occlusion without distal bypass and ten underwent treatment preserving the parent artery. Twelve patients could not be treated endovascularly. Selective embolization (including two remodeling techniques and two stent-coil embolizations) resulted in only one cure. Two patients died as a result of subarachnoid hemorrhage periprocedurely. Twenty-nine patients treated primarily with parent vessel occlusion and three patients treated with covered stent were considered cured after their treatments. Only one patient treated with parent vessel occlusion experienced ischemia during follow-up, which resulted in a mild neurological deficit. Of the twelve patients who could not be treated endovascularly, one succumbed to surgery, four died while being treated conservatively, and three were lost to follow-up. Parent artery occlusion, covered stent and coil occlusion provide effective protection against bleeding. In treatment of paraclinoid GAs of the internal carotid artery, the use of a stent, and stent-assisted coil embolization may be a pitfall. PMID:20465907

  3. Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

    PubMed Central

    Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

    2015-01-01

    Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition. PMID:26713146

  4. Atypical presentations in Chiari II malformation.

    PubMed

    Rath, G P; Bithal, P K; Chaturvedi, A

    2006-01-01

    Myelomeningocele with Chiari II malformation and hydrocephalus is a common association seen in infants with a congenital failure of neurulation. Here we report two cases of such an association presenting with different sets of problems. The first patient presented with severe inspiratory stridor due to bilateral abductor vocal cord paralysis, which was relieved completely within 24 h of definitive surgery. The second patient experienced intraoperative cardiac arrest. Definitive surgery was followed after successful cardiopulmonary resuscitation. The cause of the perioperative sequence of events in both cases is attributed to the associated pathologies of Chiari II malformation.

  5. Cochlear Implantation in Children with Cochlear Malformation.

    PubMed

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo

    2016-01-01

    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

  6. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  7. Intracerebral hemorrhage in a young woman with arteriovenous malformation after taking diet control pills containing phenylpropanolamine: a case report.

    PubMed

    Chung, Y T; Hung, D Z; Hsu, C P; Yang, D Y; Wu, T C

    1998-07-01

    Administration of phenylpropanolamine (PPA) is a rare cause of intracerebral hemorrhage. We present the case of a young female patient with arteriovenous malformation who suffered an intracerebral hemorrhage after ingestion of diet pills containing PPA. The literature on PPA-related intracerebral hemorrhage is also reviewed. This is the first report of PPA-associated intracerebral hemorrhage in a patient with pathology-proven arteriovenous malformation of the brain. Because intracerebral hemorrhage may develop as a side effect of PPA when patients take the manufacturer's recommended dose, especially in patients with vascular abnormalities, we conclude that this medicine should be prescribed carefully and patients should be closely monitored by experienced physicians. Furthermore, its use should be contraindicated in patients who have, or possibly have, a family history of vascular abnormalities.

  8. Magnetic resonance imaging of pediatric soft-tissue vascular anomalies.

    PubMed

    Navarro, Oscar M

    2016-05-01

    Magnetic resonance (MR) imaging can be used in the management of pediatric soft-tissue vascular anomalies for diagnosing and assessing extent of lesions and for evaluating response to therapy. MR imaging studies often involve a combination of T1- and T2-weighted images in addition to MR angiography and fat-suppressed post-contrast sequences. The MR imaging features of these vascular anomalies when combined with clinical findings can aid in diagnosis. In cases of complex vascular malformations and syndromes associated with vascular anomalies, MR imaging can be used to evaluate accompanying soft-tissue and bone anomalies. This article reviews the MR imaging protocols and appearances of the most common pediatric soft-tissue vascular anomalies.

  9. Intracranial physiological calcifications in adults on computed tomography in Tabriz, Iran.

    PubMed

    Daghighi, M H; Rezaei, V; Zarrintan, S; Pourfathi, H

    2007-05-01

    Intracranial physiological calcifications are unaccompanied by any evidence of disease and have no demonstrable pathological cause. They are often due to calcium and sometimes iron deposition in the blood vessels of different structures of the brain. Computed tomography (CT) is the most sensitive means of detection of these calcifications. The aim of this study was the assessment of intracranial physiological calcifications in adults. We studied 1569 cases ranging in age from 15 to 85 in Tabriz Imam Khomeini Hospital, Iran. These patients had a history of head trauma and their CT scan did not show any evidence of pathological findings. The structures evaluated consisted of (A) the pineal gland, (B) the choroid plexus, (C) the habenula, (D) the basal ganglia, (E) the tentorium cerebelli, sagittal sinus and falx cerebri, (F) vessels and (G) lens and other structures which could be calcified. Of the 1569 subjects, 71.0% had pineal calcification, 66.2% had choroid plexus calcification, 20.1% had habenular calcification, 7.3% had tentorium cerebelli, sagittal sinus or falx cerebri calcifications, 6.6% had vascular calcification, 0.8% had basal ganglia calcification and 0.9% had lens and other non-defined calcifications. In general, the frequency of intracranial physiological calcifications was greater in men than in women. All types of calcification increased at older ages except for lens and other non-defined calcifications. We evaluated all the cranial structures and determined percentages for all types of intracranial physiological calcification. These statistics can be used for comparing physiological and pathological intracranial calcifications. Moreover, these statistics may be of interest from the clinical perspective and are potentially of clinical use.

  10. A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation

    PubMed Central

    Couto, Javier A.; Vivero, Matthew P.; Kozakewich, Harry P.W.; Taghinia, Amir H.; Mulliken, John B.; Warman, Matthew L.; Greene, Arin K.

    2015-01-01

    Verrucous venous malformation (VVM), also called “verrucous hemangioma,” is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations affecting the same gene in specimens from multiple persons. We observed mosaicism for a missense mutation (NM_002401.3, c.1323C>G; NP_002392, p.Iso441Met) in mitogen-activated protein kinase kinase kinase 3 (MAP3K3) in three of six individuals. We confirmed the presence of this mutation via droplet digital PCR (ddPCR) in the three subjects and found the mutation in three additional specimens from another four participants. Mutant allele frequencies ranged from 6% to 19% in affected tissue. We did not observe this mutant allele in unaffected tissue or in affected tissue from individuals with other types of vascular anomalies. Studies using global and conditional Map3k3 knockout mice have previously implicated MAP3K3 in vascular development. MAP3K3 dysfunction probably causes VVM in humans. PMID:25728774

  11. Hyperprolactinemia due to spontaneous intracranial hypotension.

    PubMed

    Schievink, Wouter I; Nuño, Miriam; Rozen, Todd D; Maya, M Marcel; Mamelak, Adam N; Carmichael, John; Bonert, Vivien S

    2015-05-01

    OBJECT Spontaneous intracranial hypotension is an increasingly recognized cause of headaches. Pituitary enlargement and brain sagging are common findings on MRI in patients with this disorder. The authors therefore investigated pituitary function in patients with spontaneous intracranial hypotension. METHODS Pituitary hormones were measured in a group of 42 consecutive patients with spontaneous intracranial hypotension. For patients with hyperprolactinemia, prolactin levels also were measured following treatment. Magnetic resonance imaging was performed prior to and following treatment. RESULTS The study group consisted of 27 women and 15 men with a mean age at onset of symptoms of 52.2 ± 10.7 years (mean ± SD; range 17-72 years). Hyperprolactinemia was detected in 10 patients (24%), ranging from 16 ng/ml to 96.6 ng/ml in men (normal range 3-14.7 ng/ml) and from 31.3 ng/ml to 102.5 ng/ml in women (normal range 3.8-23.2 ng/ml). In a multivariate analysis, only brain sagging on MRI was associated with hyperprolactinemia. Brain sagging was present in 60% of patients with hyperprolactinemia and in 19% of patients with normal prolactin levels (p = 0.02). Following successful treatment of the spontaneous intracranial hypotension, hyperprolactinemia resolved, along with normalization of brain MRI findings in all 10 patients. CONCLUSIONS Spontaneous intracranial hypotension is a previously undescribed cause of hyperprolactinemia. Brain sagging causing distortion of the pituitary stalk (stalk effect) may be responsible for the hyperprolactinemia.

  12. Primary Stenting of Intracranial Atherosclerotic Stenoses

    SciTech Connect

    Straube, T. Stingele, Robert; Jansen, Olav

    2005-04-15

    Purpose: To determine the feasibility and safety of stenting intracranial atherosclerotic stenoses.Methods: In 12 patients the results of primary intracranial stenting were evaluated retrospectively. Patient ages ranged from 49 to 79 years (mean 64 years). Six patients presented with stenoses in the anterior circulation, and six had stenosis in the posterior circulation. One patient presented with extra- and intracranial tandem stenosis of the left internal carotid artery. Three patients presented with acute basilar thrombosis, caused by high-grade basilar stenoses.Results: Intracranial stenoses were successfully stented in 11 of 12 patients. In one patient the stent could not be advanced over the carotid siphon to reach the stenosis of the ophthalmic internal carotid artery. Follow-up digital subtraction angiographic studies were obtained in two patients who had presented with new neurologic signs or symptoms. In both cases the angiogram did not show any relevant stenotic endothelial hyperplasia. In one patient, after local thrombolysis the stenosis turned out to be so narrow that balloon angioplasty had to be performed before stent deployment. All three patients treated for stenosis-related basilar thrombosis died due to brainstem infarction that had ensued before the intervention.Conclusions: Prophylactic primary stenting of intracranial stenoses of the anterior or posterior cerebral circulation can be performed with a low complication rate; technical problems such as stent flexibility must still be solved. Local thrombolysis followed by stenting in stenosis-related thrombotic occlusion is technically possible.

  13. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  14. Chiari I Malformation in Nephropathic Cystinosis

    PubMed Central

    Rao, Kavya I; Hesselink, John; Trauner, Doris A

    2015-01-01

    Objective To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. Study design Magnetic resonance imaging (MRI) scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. Results Ten of 53 (18.9%) cystinosis patients had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. Conclusions Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and MRI scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms. PMID:26265281

  15. Angular craniometry in craniocervical junction malformation.

    PubMed

    Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi

    2013-10-01

    The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles.

  16. Congenital Malformations in River Buffalo (Bubalus bubalis).

    PubMed

    Albarella, Sara; Ciotola, Francesca; D'Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-02-10

    The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy) in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia) and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  17. Differential Gene Expression in Human Cerebrovascular Malformations

    PubMed Central

    Shenkar, Robert; Elliott, J. Paul; Diener, Katrina; Gault, Judith; Hu, Ling-Jia; Cohrs, Randall J.; Phang, Tzulip; Hunter, Lawrence; Breeze, Robert E.; Awad, Issam A.

    2009-01-01

    OBJECTIVE We sought to identify genes with differential expression in cerebral cavernous malformations (CCMs), arteriovenous malformations (AVMs), and control superficial temporal arteries (STAs) and to confirm differential expression of genes previously implicated in the pathobiology of these lesions. METHODS Total ribonucleic acid was isolated from four CCM, four AVM, and three STA surgical specimens and used to quantify lesion-specific messenger ribonucleic acid expression levels on human gene arrays. Data were analyzed with the use of two separate methodologies: gene discovery and confirmation analysis. RESULTS The gene discovery method identified 42 genes that were significantly up-regulated and 36 genes that were significantly down-regulated in CCMs as compared with AVMs and STAs (P = 0.006). Similarly, 48 genes were significantly up-regulated and 59 genes were significantly down-regulated in AVMs as compared with CCMs and STAs (P = 0.006). The confirmation analysis showed significant differential expression (P < 0.05) in 11 of 15 genes (angiogenesis factors, receptors, and structural proteins) that previously had been reported to be expressed differentially in CCMs and AVMs in immunohistochemical analysis. CONCLUSION We identify numerous genes that are differentially expressed in CCMs and AVMs and correlate expression with the immunohistochemistry of genes implicated in cerebrovascular malformations. In future efforts, we will aim to confirm candidate genes specifically related to the pathobiology of cerebrovascular malformations and determine their biological systems and mechanistic relevance. PMID:12535382

  18. Congenital Malformations in River Buffalo (Bubalus bubalis)

    PubMed Central

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  19. Primary Intracranial Malignant Melanoma with Extracranial Metastasis

    PubMed Central

    Hirota, Kengo; Yoshimura, Chika; Kubo, Osami; Kasuya, Hidetoshi

    2017-01-01

    We report a case of primary intracranial malignant melanoma (PIMM) with extracranial metastases. The patient was an 82-year-old woman diagnosed with PIMM under the left cerebellar tentorium. We performed a tumor resection followed by gamma knife surgery. An magnetic resonance imaging at 11 months after surgery showed a local intracranial recurrence. At 12 months, vertebral metastasis was suspected, and 2-[fluorine-18]-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography (FDG-PET/CT) showed multiple extracranial metastases. She died at 13 months after surgery. Although extracranial metastases of PIMM are extremely rare, we should carefully follow up extracranial metastases together with intracranial ones, especially by FDG-PET/CT, even at an early asymptomatic stage. PMID:28061499

  20. 21 CFR 882.1620 - Intracranial pressure monitoring device.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Intracranial pressure monitoring device. 882.1620... pressure monitoring device. (a) Identification. An intracranial pressure monitoring device is a device used for short-term monitoring and recording of intracranial pressures and pressure trends. The...

  1. 21 CFR 882.1620 - Intracranial pressure monitoring device.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Intracranial pressure monitoring device. 882.1620... pressure monitoring device. (a) Identification. An intracranial pressure monitoring device is a device used for short-term monitoring and recording of intracranial pressures and pressure trends. The...

  2. 21 CFR 882.1620 - Intracranial pressure monitoring device.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Intracranial pressure monitoring device. 882.1620... pressure monitoring device. (a) Identification. An intracranial pressure monitoring device is a device used for short-term monitoring and recording of intracranial pressures and pressure trends. The...

  3. Intracranial Vertebral Artery Dissections: Evolving Perspectives

    PubMed Central

    Ali, M.S.; Amenta, P.S.; Starke, R.M.; Jabbour, P.M.; Gonzalez, L.F.; Tjoumakaris, S.I.; Flanders, A.E.; Rosenwasser, R.H.; Dumont, A.S.

    2012-01-01

    Summary Intracranial vertebral artery dissection (VAD) represents the underlying etiology in a significant percentage of posterior circulation ischemic strokes and subarachnoid hemorrhages. These lesions are particularly challenging in their diagnosis, management, and in the prediction of long-term outcome. Advances in the understanding of underlying processes leading to dissection, as well as the evolution of modern imaging techniques are discussed. The data pertaining to medical management of intracranial VADs, with emphasis on anticoagulants and antiplatelet agents, is reviewed. Surgical intervention is discussed, including, the selection of operative candidates, open and endovascular procedures, and potential complications. The evolution of endovascular technology and techniques is highlighted. PMID:23217643

  4. Measuring Intracranial Pressure And Volume Noninvasively

    NASA Technical Reports Server (NTRS)

    Cantrell, John H.; Yost, William T.

    1994-01-01

    Ultrasonic technique eliminates need to drill into brain cavity. Intracranial dynamics instrument probes cranium ultrasonically to obtain data for determination of intracranial pressure (ICP) and pressure-volume index (PVI). Instrument determines sensitivity of skull to changes in pressure and by use of mechanical device to exert external calibrated pressure on skull. By monitoring volume of blood flowing into jugular vein, one determines change of volume of blood in cranial system. By measuring response of skull to increasing pressure (where pressure increased by tilting patient known amount) and by using cranial blood pressure, one determines intial pressure in cerebrospinal fluid. Once PVI determined, ICP determined.

  5. A simulation model to study the role of the extracranial venous drainage pathways in intracranial hemodynamics.

    PubMed

    Gadda, G; Taibi, A; Sisini, F; Gambaccini, M; Sethi, S K; Utriainen, D; Haacke, E M; Zamboni, P; Ursino, M

    2015-01-01

    Alterations in the extracranial venous circulation due to posture changes, and/or extracranial venous obstructions in patients with vascular diseases, can have important implications on cerebral hemodynamics. A hemodynamic model for the study of cerebral venous outflow was developed to investigate the correlations between extracranial blood redistributions and changes in the intracranial environment. Flow data obtained with both magnetic resonance (MR) and Echo-Color Doppler (ECD) technique are used to validate the model. The very good agreement between simulated supine and upright flows and experimental results means that the model can correctly reproduce the main factors affecting the extracranial venous circulation.

  6. Vascular dementia

    PubMed Central

    Korczyn, Amos D; Vakhapova, Veronika; Grinberg, Lea T

    2012-01-01

    The epidemic grow of dementia causes great concern for the society. It is customary to consider Alzheimer’s disease (AD) as the most common cause of dementia, followed by vascular dementia (VaD). This dichotomous view of a neurodegenerative disease as opposed to brain damage caused by extrinsic factors led to separate lines of research in these two entities. Indeed, accumulated data suggest that the two disorders have additive effects and probably interact; however it is still unknown to what degree. Furthermore, epidemiological studies have shown “vascular” risk factors to be associated with AD. Therefore, a clear distinction between AD and VaD cannot be made in most cases, and is furthermore unhelpful. In the absence of efficacious treatment for the neurodegenerative process, special attention must be given to vascular component, even in patients with presumed mixed pathology. Symptomatic treatment of VaD and AD are similar, although the former is less effective. For prevention of dementia it is important to treat aggressively all factors, even in stroke survivors who do not show evidence of cognitive decline,. In this review, we will give a clinical and pathological picture of the processes leading to VaD and discuss it interaction with AD. PMID:22575403

  7. Optimization of Isocenter Location for Intensity Modulated Stereotactic Treatment of Small Intracranial Targets

    SciTech Connect

    Salter, Bill J. Fuss, Martin; Sarkar, Vikren; Wang, Brian; Rassiah-Szegedi, Prema; Papanikolaou, Niko; Hollingshaus, Scott; Shrieve, Dennis C.

    2009-02-01

    Purpose: To quantify the impact of isocenter location on treatment plan quality for intensity-modulated stereotactic treatment of small intracranial lesions. Methods and Materials: For 18 patients previously treated by stereotactic-intensity modulated radiosurgery (IMRS) or intensity-modulated radiation therapy (IMRT), a retrospective virtual planning study was conducted wherein the impact of isocenter location on plan quality was measured. Treatment indications studied included six arteriovenous malformations, six acoustic neuromas, and six intracranial metastases, ranging in volume from 0.71 to 3.21 cm{sup 3} (mean = 2.26 cm{sup 3}), 1.08 to 2.84 cm{sup 3} (mean = 1.73 cm{sup 3}), and 0.19 to 2.30 cm{sup 3} (mean = 0.79 cm{sup 3}), respectively. Variation of isocenter location causes the geometric grid of pencil beams into which the target is segmented for intensity-modulated treatment to be altered. The impact of this pencil-beam-grid redefinition on achievable conformity index was quantified for three collimators (Varian Millennium 120; BrainLab MM3; Nomos binary Mimic) and three treatment planning systems (TPS; Varian Eclipse v6.5; BrainLab BrainScan v5.31; Best-Nomos Corvus v6.2), resulting in the evaluation of 3,446 treatment plans. Results: For all patients, collimator, and TPS combinations studied, a significant variation in plan quality was observed as a function of isocenter and pencil-beam-grid relocation. Optimization of isocenter location resulted in treatment plan conformity variations as large as 109% (min = 15%, mean = 51%, max = 109%). Conclusion: Optimization of isocenter location for IMRT/IMRS treatment of small intracranial lesions in which pencil-beam dimensions are comparable to target dimensions, can result in significant improvements in treatment plan quality.

  8. Prenatal diagnosis and genetic discoveries of an intracranial mixed neuronal-glial tumor

    PubMed Central

    Sun, Lijuan; Wu, Qingqing; Pei, Yan; Li, Jinghua; Ye, Jintang; Zhi, Wenxue; Liu, Yan; Zhang, Puqing

    2016-01-01

    Abstract Background: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. Case report: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm3 in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis. No other associated malformations were detected. Prenatal magnetic resonance imaging (MRI) which was taken subsequently confirmed the result of ultrasound and provided more detailed information such as fetal brain dysplasia. The fetal chromosomal karyotype analysis is normal. Single-nucleotide polymorphism (SNP)-based chromosomal microarray analysis (CMA) detected a 0.72-Mb duplication at 4q35.2 in fetus which was associated with epilepsy and cardiac anomalies. It also revealed a 0.13-Mb deletion at 6q26 located in PARK2 gene, and the mutation of the gene is known to be related to autosomal recessive juvenile Parkinson disease. The parents chose termination of pregnancy (TOP). The histological examination showed a mixed neuronal-glial tumor. Conclusion: Prenatal detection of mixed neuronal-glial tumor is very rare. Ultrasound is of critical importance to detect the intracranial tumors, and MRI can give us some detailed information about the tumors. However, the precise histologic type was depended on the pathological examination. CMA should be necessary for the fetuses with congenital intracranial tumors, especially when the fetal chromosomal karyotype analysis is normal. PMID:27828868

  9. Intracranial vessel wall imaging for evaluation of steno-occlusive diseases and intracranial aneurysms.

    PubMed

    Brinjikji, Waleed; Mossa-Basha, Mahmud; Huston, John; Rabinstein, Alejandro A; Lanzino, Giuseppe; Lehman, Vance T

    2017-03-01

    Cerebrovascular diseases have traditionally been classified, diagnosed and managed based on their luminal characteristics. However, over the past several years, several advancements in MRI techniques have ushered in high-resolution vessel wall imaging (HR-VWI), enabling evaluation of intracranial vessel wall pathology. These advancements now allow us to differentiate diseases which have a common angiographic appearance but vastly different natural histories (i.e. moyamoya versus atherosclerosis, reversible cerebral vasoconstriction syndrome versus vasculitis, stable versus unstable intracranial aneurysms). In this review, we detail the anatomical, histopathological and imaging characteristics of various intracranial steno-occlusive diseases and types of intracranial aneurysms and describe the role that HR-VWI can play in diagnosis, risk stratification and treatment.

  10. Not all cases of nyctalopia are benign: Unusual and serendipitous presentation of Arnold–Chiari Type 1 malformation at a Pediatric Tertiary Care Center

    PubMed Central

    Patra, Kailash Chandra; Kirtane, Abhijeet Prakash

    2016-01-01

    The Arnold–Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities. Papilledema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To underscore this noteworthy complication, the authors report a case of an 8-year-old boy who presented with nyctalopia and suboccipital headaches, but was diagnosed serendipitously as a case of papilledema due to Chiari I malformation. PMID:27857798

  11. Not all cases of nyctalopia are benign: Unusual and serendipitous presentation of Arnold-Chiari Type 1 malformation at a Pediatric Tertiary Care Center.

    PubMed

    Patra, Kailash Chandra; Kirtane, Abhijeet Prakash

    2016-01-01

    The Arnold-Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities. Papilledema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To underscore this noteworthy complication, the authors report a case of an 8-year-old boy who presented with nyctalopia and suboccipital headaches, but was diagnosed serendipitously as a case of papilledema due to Chiari I malformation.

  12. Different imaging methods in the comparative assessment of vascular lesions: color-coded duplex sonography, laser Doppler perfusion imaging, and infrared thermography

    NASA Astrophysics Data System (ADS)

    Urban, Peter; Philipp, Carsten M.; Weinberg, Lutz; Berlien, Hans-Peter

    1997-12-01

    Aim of the study was the comparative investigation of cutaneous and subcutaneous vascular lesions. By means of color coded duplex sonography (CCDS), laser doppler perfusion imaging (LDPI) and infrared thermography (IT) we examined hemangiomas, vascular malformations and portwine stains to get some evidence about depth, perfusion and vascularity. LDI is a helpful method to get an impression of the capillary part of vascular lesions and the course of superficial vessels. CCDS has disadvantages in the superficial perfusion's detection but connections to deeper vascularizations can be examined precisely, in some cases it is the only method for visualizing vascular malformations. IT gives additive hints on low blood flow areas or indicates arterial-venous-shunts. Only the combination of all imaging methods allows a complete assessment, not only for planning but also for controlling the laser treatment of vascular lesions.

  13. Lumbar subdural cerebrospinal fluid collection with acute cauda equina syndrome after posterior fossa decompression for Chiari malformation Type I: case report.

    PubMed

    Darwish, Houssein A; Oldfield, Edward H

    2016-09-01

    This report describes the circumstances of a patient with a cauda equina syndrome due to the development of a lumbar subdural CSF collection with ventral displacement of the cauda equina shortly following posterior fossa decompression for Chiari malformation Type I (CM-I). This unusual, but clinically significant, complication was successfully treated with percutaneous drainage of the extraarachnoid CSF collection. Although there are a few cases of intracranial subdural hygroma developing after surgery for CM-I, often attributed to a pinhole opening in the arachnoid, as far as the authors can determine, a spinal subdural hygroma associated with surgery for CM-I has not been recognized.

  14. Metastatic Intracranial Hemangiopericytoma to the Spinal Column: A Case Report

    PubMed Central

    Joo, Myung Sung; Rho, Young Joon; Song, Sang Woo; Roh, Hong Gee; Lim, So-Dug

    2016-01-01

    Intracranial hemangiopericytoma (HPC) is a rare brain tumor with aggressive biologic behavior associated with high recurrence rate and often with extracranial metastasis. The most common sites of extracranial metastasis of the intracranial HPC are the long bones, lung, liver and abdominal cavity in the order of frequencies. Extracranial metastases usually occur long after the initial diagnosis of the primary tumor. Metastatic intracranial HPC to the vertebra has been rarely reported. We present a case of intracranial HPC metastasized to the L2 vertebral body 13 years after multiple surgical resections and radiotherapy of the primary intracranial HPC. PMID:27867924

  15. Nd:YAG laser photocoagulation of benign oral vascular lesions: a case series.

    PubMed

    Medeiros, Rui; Silva, Igor Henrique; Carvalho, Alessandra Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino

    2015-11-01

    Vascular anomalies of the head and neck are common lesions usually associated with functional and/or aesthetic limitations. The aim of the present paper was to report a case series of oral vascular malformations treated with Nd:YAG laser photocoagulation, highlighting the clinical evolution and post-surgical complications. Fifteen patients diagnosed with oral vascular malformations were treated with Nd:YAG laser followed by three sessions of biostimulation. None of the patients presented post-surgical pain, but 6 of 15 patients (40%) experienced minimal post-surgical complications. All cases presented complete resolution of the lesions after laser treatment. More importantly, 12 out of 15 (80%) resolved after a single session. Low morbidity, minimal patient discomfort, and satisfactory aesthetic results point Nd:YAG laser photocoagulation as a promising option for the management of benign oral vascular lesions.

  16. Evidence for Inflammatory Cell Involvement in Brain Arteriovenous Malformations

    PubMed Central

    Chen, Yongmei; Zhu, Wei; Bollen, Andrew W.; Lawton, Michael T.; Barbaro, Nicholas M.; Dowd, Christopher F.; Hashimoto, Tomoki; Yang, Guo-Yuan; Young, William L.

    2008-01-01

    Objective Brain arteriovenous malformations (AVM) have high MMP-9, IL-6 and MPO expression, and polymorphic variations in inflammatory genes are associated with increased risk of hemorrhage. In this study, we characterized the presence of inflammatory cells in AVM lesional tissues. Methods Immunohistochemistry was used to identify and localize neutrophils (MPO as marker), macrophages/microglia (CD68 as marker), T lymphocytes (CD3 as marker), and B lymphocytes (CD20 as marker). Endothelial cell (EC) marker CD31 was used as an index to assess vascular mass (EC mass). Surgical specimens from 20 unruptured, non-embolized AVMs were examined; seven cortical samples from temporal lobectomy were used as controls. Positive signals for inflammatory cell markers were counted and analyzed by normalizing to the area of the tissue section and the amount of endothelial cells (cells/mm2/EC mass pixels). Levels of MPO and MMP-9 were determined by ELISA. Results Neutrophils and macrophages are all frequently identified in the vascular wall of AVM tissues. In contrast, T and B lymphocytes are rarely observed in AVM tissues. AVM tissues displayed more neutrophil and macrophage/microglia markers than epilepsy control tissues (MPO: 434 ± 333 vs 5 ± 4, P=0.0001; CD68: 454 ± 404 vs 4 ± 2, P=0.0001; cells/mm2/EC mass pixels). In ex vivo studies, neutrophil quantity, MPO, and MMP-9 levels were all co-linear(R2=0.98–0.99). Conclusion Our study demonstrates that inflammatory cells are present in AVM tissues. Taken together with prior genetic and cytokine studies, these data are consistent with a novel view that inflammation is associated with AVM disease progression and rupture. PMID:18825001

  17. Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management

    PubMed Central

    Lin, Angela E.; Pober, Barbara R.; Adatia, Ian

    2010-01-01

    The co-occurrence of congenital diaphragmatic hernia (CDH) and cardiovascular malformations (CVMs) has important clinical, genetic, and developmental implications. Previous examinations of this topic often included patients with genetic syndromes. To correct this potential bias, we undertook an extensive review of the literature and obtained new data. The frequency of CVMs associated with isolated CDH was 11–15%. A careful analysis of CVMs indicates that atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects were the most common type of CVMs, but proportional to the frequency of occurrence in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on survival from patients with a genetic syndrome has not been consistently evaluated. We encourage researchers to re-analyze existing series and recommend that future studies distinguish isolated CDH from that which is associated with other malformations, especially as part of genetic syndromes. Therapies should be tailored to maximize cardiac output and systemic oxygen delivery rather than systemic oxygen saturation alone. Although there is speculation about the frequency with which isolated left ventricular “hypoplasia” occurs in patients with CDH, we suggest it results from compression of a pre-load deficient left ventricle by the hypertensive right ventricle, and unlike true hypoplasia, is reversible. Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome. PMID:17436301

  18. Massive glosso-cervical arteriovenous malformation: The rationale for a challenging surgical resection

    PubMed Central

    González-García, Raúl; Moreno-García, Carlos

    2014-01-01

    Massive arterivenous malformations (AVM) in the cervico-facial area are rare but potentially life-threatening. Treatment protocols are not well-established. A 41-year old man presented large painless rubber-like mass within the entire neck, which also extended intraorally through the floor of the mouth, showing a slow growing pattern for 5 years. Angiography diagnosed it as cervicofacial AVM. Treatment approach consisted on the embolization of the right upper thyroid, lingual and facial arteries under intravenous sedation. Three days later, bilateral radical neck dissection and subtotal glossectomy was performed. A musculo-cutaneous pectoralis major pedicled flap was harvested to reconstruct the floor of the mouth. Treatment of massive AVMs in the cervico-facial area is challenging due to the associated disfigurement and frequent recurrence rate due to incomplete resection. Also, massive bleeding may be present despite pre-operative super-selective embolization. A new case is presented with focus on surgical treatment considerations. Key words:Arteriovenous malformation, high-flow vascular malformation, cervical region, tongue, surgical resection PMID:25593675

  19. Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.

    PubMed

    Chan, Aubrey C; Drakos, Stavros G; Ruiz, Oscar E; Smith, Alexandra C H; Gibson, Christopher C; Ling, Jing; Passi, Samuel F; Stratman, Amber N; Sacharidou, Anastasia; Revelo, M Patricia; Grossmann, Allie H; Diakos, Nikolaos A; Davis, George E; Metzstein, Mark M; Whitehead, Kevin J; Li, Dean Y

    2011-05-01

    Cerebral cavernous malformations (CCMs) are a common type of vascular malformation in the brain that are a major cause of hemorrhagic stroke. This condition has been independently linked to 3 separate genes: Krev1 interaction trapped (KRIT1), Cerebral cavernous malformation 2 (CCM2), and Programmed cell death 10 (PDCD10). Despite the commonality in disease pathology caused by mutations in these 3 genes, we found that the loss of Pdcd10 results in significantly different developmental, cell biological, and signaling phenotypes from those seen in the absence of Ccm2 and Krit1. PDCD10 bound to germinal center kinase III (GCKIII) family members, a subset of serine-threonine kinases, and facilitated lumen formation by endothelial cells both in vivo and in vitro. These findings suggest that CCM may be a common tissue manifestation of distinct mechanistic pathways. Nevertheless, loss of heterozygosity (LOH) for either Pdcd10 or Ccm2 resulted in CCMs in mice. The murine phenotype induced by loss of either protein reproduced all of the key clinical features observed in human patients with CCM, as determined by direct comparison with genotype-specific human surgical specimens. These results suggest that CCM may be more effectively treated by directing therapies based on the underlying genetic mutation rather than treating the condition as a single clinical entity.

  20. Varied computed tomographic appearance of intracranial cryptococcosis

    SciTech Connect

    Cornell, S.H.; Jacoby, C.G.

    1982-06-01

    CT findings in 12 cases of intracranial cryptococcal infection were reviewed. Five patients had a normal scan. Seven patients had communicating or noncommunicating hydrocephalus. Additional findings included meningeal opacification, cerebritis, abscess, and granuloma. Although not specific for cryptococcosis, the CT scan is helpful for evaluating and following the status of the ventricles, subarachnoid spaces, and meninges.

  1. ECT in patients with intracranial masses.

    PubMed

    Rasmussen, Keith G; Perry, Candace Lynn; Sutor, Bruce; Moore, Katherine M

    2007-01-01

    The authors describe the electroconvulsive therapy (ECT) treatment of seven patients who had intracranial masses or mass effect and one patient who was status post mass resection. None suffered any neurological deterioration during ECT. They provide recommendations for clinical practice with such patients.

  2. Intracranial haematoma resulting from lightning stroke.

    PubMed

    Thomas, M; Pillai, M; Krishna Das, K V

    1991-05-01

    Intra-cerebral haemorrhage due to lightning stroke is extremely rare. We report a 45 year old woman who developed intracranial haemorrhage due to a direct lightning stroke. This was proved by CT scan. The haematoma was evacuated surgically, resulting in full neurological recovery of the patient.

  3. Biomarkers Prognostic for Elevated Intracranial Pressure

    DTIC Science & Technology

    2016-03-01

    head with subsequent traumatic subdural, subarachnoid, intraventricular, intracranial hemorrhage and diffuse edema and multiple bone fragments...subdural hematoma, and pneumocephalus, diffuse subarachnoid hemorrhage, diffuse brain edema w/ sulci and brainstem effacement, small hemorrhagic bifrontal...helmet, yet suffered a TSAH, SDH, cerebral edema , and extensive skull base fractures as demonstrated by the admit CT. After administration of mannitol

  4. Isotope cisternography in patients with intracranial hypertension

    SciTech Connect

    Hayashi, M.; Kobayashi, H.; Kawano, H.; Handa, Y.; Kabuto, M.; Noguchi, Y.; Shirasaki, H.

    1986-04-01

    Cerebrospinal fluid flow (CSF) was studied using isotope cisternography in 52 patients with increased intracranial pressure (ICP), all of whom showed acute transient rises of ICP, i.e., plateau waves, in their continuous ICP recordings. The patients were assigned to two groups. Group I was comprised of 23 patients without hydrocephalus and high ICP resulting from brain tumors, benign intracranial hypertension, and superior sagittal sinus thrombosis. Group II included 29 patients with either communicating hydrocephalus or high ICP resulting from rupture of intracranial aneurysm. Plateau waves were frequently observed in patients with baseline pressures ranging from 21 to 40 mmHg in both groups. The isotope cisternographic pattern in the Group I patients showed a large accumulation of radioactivity over the cerebral convexities, while that in the Group II patients revealed a complete obstruction of the subarachnoid space over both cerebral convexities. The isotope clearance from the intracranial CSF showed a marked delay in both groups of patients with one exception. The results suggest that, in the limited range of increased ICP caused by delayed CSF absorption, plateau waves are most evident regardless of the isotope cisternographic pattern.

  5. Intracranial extra-skeletal mesenchymal chondrosarcoma.

    PubMed

    Reyaz, Nadeem; Ashraf, Muhammad

    2006-01-01

    Intracranial Mesenchymal Chondrosarcoma is a very rare and uncommon entity that affects young adults. We came across one such patient who presented with severe headache and intermittent nausea and vomiting. The clinical, radiological preoperative diagnosis was a meningioma, on histological examination it turned out to be mesenchymal chondrosarcoma of tentorial region in posterior fossa, uncommon site for this entity.

  6. Differentiating Concussion From Intracranial Pathology in Athletes.

    PubMed

    Cripps, Andrea; Livingston, Scott C

    2017-01-01

    Clinical Scenario: A cerebral concussion is a traumatically induced transient disturbance of brain function characterized by a complex pathophysiologic process and is classified as a subset of mild traumatic brain injury. The occurrence of intracranial lesions after sport-related head injury is relatively uncommon, but the possibility of serious intracranial injury (ICI) should be included in the differential diagnosis. ICIs are potentially life threatening and necessitate urgent medical management; therefore, prompt recognition and evaluation are critical to proper medical management. One of the primary objectives of the initial evaluation is to determine if the concussed athlete has an acute traumatic ICI. Athletic trainers must be able promptly recognize clinical signs and symptoms that will enable them to accurately differentiate between a concussion (ie, a closed head injury not associated with significant ICI) and an ICI. The identification of predictors of intracranial lesions is, however, relatively broad. Focused Clinical Question: Which clinical examination findings (ie, clinical signs and symptoms) indicate possible intracranial pathology in individuals with acute closed head injuries?

  7. Persistent right umbilical vein associated with complex congenital cardiac malformation.

    PubMed

    Hoehn, Thomas; Lueder, Michael; Schmidt, Klaus G; Schaper, Joerg; Mayatepek, Ertan

    2006-04-01

    Umbilical venous catheterization is frequently used for vascular access during neonatal resuscitation. The differentiation between umbilical artery and vein, specifically during the resuscitation procedure, is clinically neither always easy nor unambiguous. A preterm infant of 35 weeks of gestational age was born after an uneventful course of his mother's pregnancy. Severe postnatal cyanosis led to the placement of presumed arterial and venous umbilical catheters. Chest x-ray was suggestive of the presence of a persistent right umbilical vein (PRUV). Echocardiography showed a double outlet right ventricle with mitral atresia and a levo-atrial cardinal vein draining the left atrium into the azygos vein. The foramen ovale was firmly closed and conventional balloon atrioseptostomy failed. Several attempts of transseptal puncture and subsequent creation of an atrial septal defect were unsuccessful and the infant eventually died. There is an association of PRUV and congenital cardiac malformation. PRUV can be diagnosed prenatally if specifically looked for. The presence of PRUV can be the only clue prenatally alerting to the presence of congenital heart disease. Postnatal diagnosis of PRUV may justify echocardiography and cardiologic assessment even in the absence of clinical cyanosis.

  8. Familial Disseminated Cutaneous Glomuvenous Malformation: Treatment with Polidocanol Sclerotherapy.

    PubMed

    Jha, Aditi; Khunger, Niti; Malarvizhi, K; Ramesh, V; Singh, Avninder

    2016-01-01

    Glomuvenous malformations (GVMs) present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.

  9. Familial Disseminated Cutaneous Glomuvenous Malformation: Treatment with Polidocanol Sclerotherapy

    PubMed Central

    Jha, Aditi; Khunger, Niti; Malarvizhi, K; Ramesh, V; Singh, Avninder

    2016-01-01

    Glomuvenous malformations (GVMs) present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10–15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months. PMID:28163461

  10. Onyx extravasation during embolization of a brain arteriovenous malformation.

    PubMed

    Ikeda, Hiroyuki; Imamura, Hirotoshi; Agawa, Yuji; Imai, Yukihiro; Tani, Shoichi; Adachi, Hidemitsu; Ishikawa, Tatsuya; Mineharu, Yohei; Sakai, Nobuyuki

    2017-04-01

    During Onyx embolization to treat brain arteriovenous malformation (AVM), carefully observing the penetration of Onyx to the nidus is important in order to avoid complications such as hemorrhage, ischemia, and difficulty with microcatheter removal. We encountered a case of Onyx extravasation during embolization of a cerebellar AVM confirmed by surgical resection and pathological analysis. The patient was a 44-year-old man with Spetzler-Martin grade I cerebellar AVM who underwent Onyx embolization prior to resection of the brain AVM. While injecting Onyx into the nidus using the "plug-and-push" technique, Onyx extravasation was observed. Onyx injection was paused and subsequently restarted, thereby allowing continuation of embolization. An oblate Onyx cast that was entirely covered in cerebellar tissue was removed during total resection of the AVM, performed the same day. The surgically removed oblate Onyx cast did not contain brain tissue or vessel wall, and immunohistochemical staining against glial fibrillary acidic protein (GFAP) showed Onyx penetration into GFAP-positive cerebellar tissue. Onyx extravasation was confirmed based on intraoperative findings during resection as well as pathological findings. The patient has been followed for four years postoperatively, and adverse events caused by Onyx extravasation have not been observed. Unexpected cast of Onyx, remote from the vascular architecture of the AVM, may represent an intra-parenchymal extravasation.

  11. Genetics of Cerebral Cavernous Malformations: Current Status and Future Prospects

    PubMed Central

    Choquet, H.; Pawlikowska, L.; Lawton, M. T.; Kim, H.

    2015-01-01

    Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients. We reviewed articles published in PubMed in English prior to March 2015 and provide an update on CCM mutations and the screening strategies used to identify them. Further, we summarize the specific clinical features related to CCM genotypes. As 5 to 15% of familial CCM cases remain genetically unexplained, we also discuss future approaches to expand understanding of the genetic architecture of CCM. Finally, we discuss possible genetic modifiers of CCM disease severity and progression. Understanding the genetic architecture of CCM is essential for an earlier diagnosis of the disease, predictive testing of at-risk patients, and design of targeted medical therapies of which there are currently none available. PMID:25900426

  12. Introduction to cerebral cavernous malformation: a brief review

    PubMed Central

    Kim, Jaehong

    2016-01-01

    The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified ‘loss of function’ mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research. [BMB Reports 2016; 49(5): 255-262] PMID:26923303

  13. Genetics of cerebral cavernous malformations: current status and future prospects.

    PubMed

    Choquet, H; Pawlikowska, L; Lawton, M T; Kim, H

    2015-09-01

    Cerebral cavernous malformations (CCM) are vascular lesions which affect up to 0.5% of the general population, predisposing to headaches, seizures, cerebral hemorrhages and focal neurological deficits. CCM occurs in both sporadic and familial forms; familial cases follow an autosomal-dominant mode of inheritance and are caused by mutations in CCM1 (KRIT1), CCM2 (MGC4607), or CCM3 (PDCD10). Somatic mutations within the three CCM genes have been identified in CCM lesions from both sporadic and familial patients. We reviewed articles published in PubMed in English prior to March 2015 and provide an update on CCM mutations and the screening strategies used to identify them. Further, we summarize the specific clinical features related to CCM genotypes. As 5% to 15% of familial CCM cases remain genetically unexplained, we also discuss future approaches to expand understanding of the genetic architecture of CCM. Finally, we discuss possible genetic modifiers of CCM disease severity and progression. Understanding the genetic architecture of CCM is essential for an earlier diagnosis of the disease, predictive testing of at-risk patients, and design of targeted medical therapies of which there are currently none available.

  14. Role of Delta-Notch signaling in cerebral cavernous malformations.

    PubMed

    Kar, Souvik; Baisantry, Arpita; Nabavi, Arya; Bertalanffy, Helmut

    2016-10-01

    Cerebral cavernous malformations (CCM) commonly known as cavernous hemangioma are associated with abnormally enlarged thin-walled blood vessels. As a result, these dilated capillaries are prone to leakage and result in hemorrhages. Clinically, such hemorrhages lead to severe headaches, focal neurological deficits, and epileptic seizures. CCM is caused by loss of function mutations in one of the three well-known CCM genes: Krev interaction trapped 1 (KRIT1), OSM, and programmed cell death 10 (PDCD10). Loss of CCM genes have been shown to be synergistically related to decreased Notch signaling and excessive angiogenesis. Despite recent evidences indicating that Notch signaling plays a pivotal role in regulating angiogenesis, the role of Notch in CCM development and progression is still not clear. Here, we provide an update literature review on the current knowledge of the structure of Notch receptor and its ligands, its relevance to angiogenesis and more precisely to CCM pathogenesis. In addition to reviewing the current literatures, this review will also focus on the cross talk between Delta-Notch and vascular endothelial growth factor (VEGF) signaling in angiogenesis and in CCM pathogenesis. Understanding the role of Notch signaling in CCM development and progression might help provide a better insight for novel anti-angiogenic therapies.

  15. Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1.

    PubMed

    Retta, Saverio Francesco; Avolio, Maria; Francalanci, Floriana; Procida, Simone; Balzac, Fiorella; Degani, Simona; Tarone, Guido; Silengo, Lorenzo

    2004-01-21

    Cerebral cavernous malformations (CCM) are vascular malformations, mostly located in the central nervous system, which occur in 0.1-0.5% of the population. They are characterized by abnormally enlarged and often leaking capillary cavities without intervening neural parenchyma. Some are clinically silent, whereas others cause seizures, intracerebral haemorrhage or focal neurological deficits. These vascular malformations can arise sporadically or may be inherited as an autosomal dominant condition with incomplete penetrance. At least 45% of families affected with cerebral cavernous malformations harbour a mutation in Krev interaction trapped-1 (Krit1) gene (cerebral cavernous malformation gene-1, CCM1). This gene contains 16 coding exons which encode a 736-amino acid protein containing three ankyrin repeats and a FERM domain. Neither the CCM1 pathogenetic mechanisms nor the function of the Krit1 protein are understood so far, although several hypotheses have been inferred from the predicted consequences of Krit1 mutations as well as from the identification of Krit1 as a binding partner of Rap1A, ICAP1A and microtubules. Here, we report the identification of Krit1B, a novel Krit1 isoform characterized by the alternative splicing of the 15th coding exon. We show that the Krit1B splice isoform is widely expressed in mouse cell lines and tissues, whereas its expression is highly restricted in human. In addition, we developed a real-time PCR strategy to accurately quantify the relative ratio of the two Krit1 alternative transcripts in different tissues, demonstrating a Krit1B/Krit1A ratio up to 20% in mouse thymus, but significantly lower ratios in other tissues. Bioinformatic analysis using exon/gene-prediction, comparative alignment and structure analysis programs supported the existence of Krit1 alternative transcripts lacking the 15th coding exon and showed that the splicing out of this exon occurs outside of potentially important Krit1 structural domains but in a

  16. A spindle cell hemangioendothelioma on the head resembling an arteriovenous malformation.

    PubMed

    Higashino, Takuya; Hirai, Rintaro

    2014-07-01

    A spindle cell hemangioendothelioma is a relatively uncommon lesion, especially on the head and neck. Recurrence occurs after local excision of 50% to 60% of these lesions; therefore, it is important to recognize this unusual neoplasm and avoid misdiagnosis. Here, we report a rare case of a spindle cell hemangioendothelioma of the head. A 37-year-old woman presented with a soft subcutaneous mass, 2.5 cm in size, on her right occipital region. The mass pulsated strongly and a thrill was present. Magnetic resonance imaging showed that some dilated feeding arteries flowed into the mass and that a flow-void sign was present. The lesion looked like an arteriovenous malformation, and a marginal resection was performed. Histologically, there was a mix of cavernous vascular cavities and Kaposi sarcomalike spindle cell vascular zones, which is compatible with a spindle cell hemangioendothelioma.

  17. Pancreatic arteriovenous malformation involving adjacent duodenum with gastrointestinal bleeding: report of a case.

    PubMed

    Uchida, Eiji; Aimoto, Takayuki; Nakamura, Yoshiharu; Katsuno, Akira; Chou, Kazumitsu; Kawamoto, Masao; Ono, Shinpei; Ishii, Nobuaki; Miyake, Kazumasa; Fujimori, Shunji; Sakamoto, Choitsu; Tajiri, Takashi

    2006-12-01

    A 54-year-old man was admitted to our hospital with the symptoms of palpitation, dyspnea, and tarry stool. Upper gastroduodenal endoscopy revealed submucosal lesions with vascular ectasia in the second part of the duodenum. Dynamic computed tomography (CT) detected a hypervascular lesion in the pancreatic head and the duodenum. Selective angiography showed proliferation of a vascular network and early filling of the portal vein at the early arterial phase. With a diagnosis of pancreatic arteriovenous malformation (AVM), we performed pylorus-preserving pancreaticoduodenectomy. At laparotomy, localized and meandering vessels were seen on the surface of the head of the pancreas. Histological examination showed dilated tortuous vessels accompanied by severed elastic fibers in the vessel media and blood clot formation. The incidence of pancreatic AVM remains extremely low, and recurrent gastrointestinal bleeding is a frequent complication. To prevent recurrent bleeding and progressive portal hypertension, surgery may be the definitive management of symptomatic AVM.

  18. Ischemic Colitis Due to a Mesenteric Arteriovenous Malformation in a Patient with a Connective Tissue Disorder

    PubMed Central

    Poullos, Peter D.; Thompson, Atalie C.; Holz, Grant; Edelman, Lauren A.; Jeffrey, R. Brooke

    2014-01-01

    Ischemic colitis is a rare, life-threatening, consequence of mesenteric arteriovenous malformations. Ischemia ensues from a steal phenomenon through shunting, and may be compounded by the resulting portal hypertension. Computed tomographic angiography is the most common first-line test because it is quick, non-invasive, and allows for accurate anatomic characterization. Also, high-resolution three-dimensional images can be created for treatment planning. Magnetic resonance angiography is similarly sensitive for vascular mapping. Conventional angiography remains the gold standard for diagnosis and also allows for therapeutic endovascular embolization. Our patient underwent testing using all three of these modalities. We present the first reported case of this entity in a patient with a vascular connective tissue disorder. PMID:25926912

  19. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  20. Occipitoatlantoaxial malformation in an adult goat.

    PubMed

    Seva, Juan I; Gómez, Serafin; Pallarés, Francisco J; Sánchez, Pedro; Bernabé, Antonio

    2008-09-01

    An occipitoatlantoaxial malformation was diagnosed in a 1-year-old Murciano-Granadina goat. At clinical examination, the head and cranial part of the neck were deviated to the right. Clinical signs of spinal cord or brain disease were not observed. At necropsy, morphological abnormalities were seen in the craniovertebral junction and cervical vertebrae, characterized by a firm attachment and incomplete articulation between the occipital bone and the atlas, and scoliosis in the cervical regions. The definitive diagnosis was bilateral asymmetrical occipitoatlantoaxial fusion with rotation of the atlas and atlantoaxial subluxation. To the authors' knowledge, this case report is the second occipitoatlantoaxial malformation described in a goat and the first description in an adult goat.

  1. Animal Models in Studying Cerebral Arteriovenous Malformation.

    PubMed

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term "arteriovenous malformation," limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected.

  2. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  3. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.

  4. The Visual Impairment Intracranial Pressure Syndrome in Long Duration NASA Astronauts: An Integrated Approach

    NASA Technical Reports Server (NTRS)

    Otto, C. A.; Norsk, P.; Shelhamer, M. J.; Davis, J. R.

    2015-01-01

    The Visual Impairment Intracranial Pressure (VIIP) syndrome is currently NASA's number one human space flight risk. The syndrome, which is related to microgravity exposure, manifests with changes in visual acuity (hyperopic shifts, scotomas), changes in eye structure (optic disc edema, choroidal folds, cotton wool spots, globe flattening, and distended optic nerve sheaths). In some cases, elevated cerebrospinal fluid pressure has been documented postflight reflecting increased intracranial pressure (ICP). While the eye appears to be the main affected end organ of this syndrome, the ocular affects are thought to be related to the effect of cephalad fluid shift on the vascular system and the central nervous system. The leading hypotheses for the development of VIIP involve microgravity induced head-ward fluid shifts along with a loss of gravity-assisted drainage of venous blood from the brain, both leading to cephalic congestion and increased ICP. Although not all crewmembers have manifested clinical signs or symptoms of the VIIP syndrome, it is assumed that all astronauts exposed to microgravity have some degree of ICP elevation in-flight. Prolonged elevations of ICP can cause long-term reduced visual acuity and loss of peripheral visual fields, and has been reported to cause mild cognitive impairment in the analog terrestrial population of Idiopathic Intracranial Hypertension (IIH). These potentially irreversible health consequences underscore the importance of identifying the factors that lead to this syndrome and mitigating them.

  5. Genome-wide association study of intracranial aneurysm identifies three new risk loci.

    PubMed

    Yasuno, Katsuhito; Bilguvar, Kaya; Bijlenga, Philippe; Low, Siew-Kee; Krischek, Boris; Auburger, Georg; Simon, Matthias; Krex, Dietmar; Arlier, Zulfikar; Nayak, Nikhil; Ruigrok, Ynte M; Niemelä, Mika; Tajima, Atsushi; von und zu Fraunberg, Mikael; Dóczi, Tamás; Wirjatijasa, Florentina; Hata, Akira; Blasco, Jordi; Oszvald, Agi; Kasuya, Hidetoshi; Zilani, Gulam; Schoch, Beate; Singh, Pankaj; Stüer, Carsten; Risselada, Roelof; Beck, Jürgen; Sola, Teresa; Ricciardi, Filomena; Aromaa, Arpo; Illig, Thomas; Schreiber, Stefan; van Duijn, Cornelia M; van den Berg, Leonard H; Perret, Claire; Proust, Carole; Roder, Constantin; Ozturk, Ali K; Gaál, Emília; Berg, Daniela; Geisen, Christof; Friedrich, Christoph M; Summers, Paul; Frangi, Alejandro F; State, Matthew W; Wichmann, H Erich; Breteler, Monique M B; Wijmenga, Cisca; Mane, Shrikant; Peltonen, Leena; Elio, Vivas; Sturkenboom, Miriam C J M; Lawford, Patricia; Byrne, James; Macho, Juan; Sandalcioglu, Erol I; Meyer, Bernhard; Raabe, Andreas; Steinmetz, Helmuth; Rüfenacht, Daniel; Jääskeläinen, Juha E; Hernesniemi, Juha; Rinkel, Gabriel J E; Zembutsu, Hitoshi; Inoue, Ituro; Palotie, Aarno; Cambien, François; Nakamura, Yusuke; Lifton, Richard P; Günel, Murat

    2010-05-01

    Saccular intracranial aneurysms are balloon-like dilations of the intracranial arterial wall; their hemorrhage commonly results in severe neurologic impairment and death. We report a second genome-wide association study with discovery and replication cohorts from Europe and Japan comprising 5,891 cases and 14,181 controls with approximately 832,000 genotyped and imputed SNPs across discovery cohorts. We identified three new loci showing strong evidence for association with intracranial aneurysms in the combined dataset, including intervals near RBBP8 on 18q11.2 (odds ratio (OR) = 1.22, P = 1.1 x 10(-12)), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 x 10(-9)) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 x 10(-9)). We also confirmed prior associations near SOX17 (8q11.23-q12.1; OR = 1.28, P = 1.3 x 10(-12)) and CDKN2A-CDKN2B (9p21.3; OR = 1.31, P = 1.5 x 10(-22)). It is noteworthy that several putative risk genes play a role in cell-cycle progression, potentially affecting the proliferation and senescence of progenitor-cell populations that are responsible for vascular formation and repair.

  6. Intracranial aneurysms: Diagnostics accuracy of three-dimensional, fourier transform, time-of-flight MR angiography

    SciTech Connect

    Korogi, Yukunori; Takahashi, Mutsumasa; Mabuchi, Nobuhisa; Miki, Hitoshi; Fujiwara, Satoru; Horikawa, Yoshiharu; Nakagawa, Toshio; O`Uchi, Toshihiro; Watabe, Tsuneya; Shiga, Hayao

    1994-10-01

    To assess the accuracy of three-dimensional, Fourier transform, time-of-flight magnetic resonance (MR) angiography in the identification of intracranial aneurysms. MR angiograms of 126 patients (59 male and 67 female patients, aged 12-77 years) with various intracranial vascular lesions were evaluated. Seventy-eight aneurysms, including 60 less than 5 mm in diameter, in 61 patients were depicted at conventional angiography. Eight projection images, as well as one axial collapsed MR angiogram obtained with a maximum-intensity projection algorithm, were used for evaluation. Sensitivity for the five observers ranged from 58% to 68% (mean, 63%). Higher sensitivity was achieved for anterior communicating and middle cerebral artery aneurysms, while that for internal carotid artery aneurysms was poor. Sensitivities for small and medium aneurysms ranged from 50% to 60% (mean, 56%) and from 77% to 94% (mean, 85%), respectively. MR angiography can depict intracranial aneurysms 5 mm or larger with good accuracy but is less useful for the identification of smaller aneurysms. 12 refs., 5 figs., 5 tabs.

  7. Sixth Nerve Palsy in Paediatric Intracranial Hypertension

    PubMed Central

    Reid, Julia E.; Reem, Rachel E.; Aylward, Shawn C.; Rogers, David L.

    2016-01-01

    ABSTRACT The purpose of this study was to report the incidence and describe the characteristics of sixth cranial nerve (CN VI) palsy in paediatric patients with intracranial hypertension (IH). A retrospective chart review of central Ohio children diagnosed with IH over the 3-year period from 2010 to 2013 was conducted. IH without identifiable cause was defined as idiopathic intracranial hypertension (IIH), whereas IH with identifiable pathologic aetiology was deemed secondary intracranial hypertension (SIH). A subset of patients with CN VI palsy was identified. Data collected included patient age, gender, past medical history, aetiology of SIH, ophthalmic examination, lumbar puncture results, neuroimaging results, and response to treatment. Seventy-eight children with intracranial hypertension were included in the study. Nine (11.5%) children (four males, five females; median age 14, range: 3–18) were found to have a unilateral (n = 2) or bilateral (n = 7) CN VI palsy. Five children had IIH; the remaining four had SIH from cerebral venous sinus thrombosis (n = 2) and infection (n = 2). The mean lumbar puncture opening pressure for the nine patients with CN VI palsy was 40 cm H2O (range: 21–65 cm H2O). Papilloedema was present in 8/9 (89%) patients. One patient required a lumboperitoneal shunt, and two others required optic nerve sheath fenestrations in addition to medical management. All cases of CN VI palsy resolved with treatment. In our primary service area, the incidence of CN VI palsy is approximately 12% among paediatric IH patients. The majority of cases with CN VI palsy presented with papilloedema and all cases resolved with treatment of intracranial hypertension. PMID:27928378

  8. Untreated clinical course of cerebral cavernous malformations: a prospective, population-based cohort study

    PubMed Central

    Salman, Rustam Al-Shahi; Hall, Julie M; Horne, Margaret A; Moultrie, Fiona; Josephson, Colin B; Bhattacharya, Jo J; Counsell, Carl E; Murray, Gordon D; Papanastassiou, Vakis; Ritchie, Vaughn; Roberts, Richard C; Sellar, Robin J; Warlow, Charles P

    2012-01-01

    Summary Background Cerebral cavernous malformations (CCMs) are prone to bleeding but the risk of intracranial haemorrhage and focal neurological deficits, and the factors that might predict their occurrence, are unclear. We aimed to quantify these risks and investigate whether they are affected by sex and CCM location. Methods We undertook a population-based study using multiple overlapping sources of case ascertainment (including a Scotland-wide collaboration of neurologists, neurosurgeons, stroke physicians, radiologists, and pathologists, as well as searches of registers of hospital discharges and death certificates) to identify definite CCM diagnoses first made in Scottish residents between 1999 and 2003, which study neuroradiologists independently validated. We used multiple sources of prospective follow-up both to identify outcome events (which were assessed by use of brain imaging, by investigators masked to potential predictive factors) and to assess adults' dependence. The primary outcome was a composite of intracranial haemorrhage or focal neurological deficits (not including epileptic seizure) that were definitely or possibly related to CCM. Findings 139 adults had at least one definite CCM and 134 were alive at initial presentation. During 1177 person-years of follow-up (completeness 97%), for intracranial haemorrhage alone the 5-year risk of a first haemorrhage was lower than the risk of recurrent haemorrhage (2·4%, 95% CI 0·0–5·7 vs 29·5%, 4·1–55·0; p<0·0001). For the primary outcome, the 5-year risk of a first event was lower than the risk of recurrence (9·3%, 3·1–15·4 vs 42·4%, 26·8–58·0; p<0·0001). The annual risk of recurrence of the primary outcome declined from 19·8% (95% CI 6·1–33·4) in year 1 to 5·0% (0·0–14·8) in year 5 and was higher for women than men (p=0·01) but not for adults with brainstem CCMs versus CCMs in other locations (p=0·17). Interpretation The risk of recurrent intracranial haemorrhage or

  9. Debendox and congenital malformations in Northern Ireland.

    PubMed Central

    Harron, D W; Griffiths, K; Shanks, R G

    1980-01-01

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached. PMID:7437804

  10. Debendox and congenital malformations in Northern Ireland.

    PubMed

    Harron, D W; Griffiths, K; Shanks, R G

    1980-11-22

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-78) the number of prescriptions for Debendox issued by general practitioners increased more than fourfold. These observations suggest that there is no relation between congenital malformations and the use of Debendox. This conclusion, however, does not take into account other drug- or environmental-related factors that may have resulted in a reduction in the number of congenital malformations and would hence have masked an increase associated with greater usage of Debendox. In particular, the amount of Debendox sold direct to the public without a prescription and the use of the drug by patients who were not pregnant could not be established. The amount of drug used in these ways is probably small, and it is difficult to see how it might influence the conclusions reached.

  11. A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation

    PubMed Central

    Huang, Wen-Qing; Lu, Cong-Xia; Zhang, Ya; Yi, Ke-Hui; Cai, Liang-Liang; Li, Ming-Li; Wang, Han; Lin, Qing; Tzeng, Chi-Meng

    2016-01-01

    Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions. Results: Four heterozygous variants in the CCM2 gene, including one deletion (c.95delC), a missense mutation (c.358G>A, p.V120I), one silent mutation (c.915G>A, p.T305T), and a substitution (c. *1452 T>C), were identified in the subjects with multiple CCM lesions, but not in a healthy sibling. Among these variants, the c.95delC deletion is a novel mutation which is expected to cause a premature termination codon. It is predicted to produce a truncated CCM2 protein lacking the PTB and C-terminal domains, thus disrupting the molecular functions of CCM2. Conclusions: The novel truncating mutation in the CCM2 gene, c.95delC, may be responsible for multiple CCM lesions in a part of FCCM. In addition, it may represent a potential genetic biomarker for early diagnosis of FCCM. PMID:27708576

  12. Epidemiology and genetics of intracranial aneurysms.

    PubMed

    Caranci, F; Briganti, F; Cirillo, L; Leonardi, M; Muto, M

    2013-10-01

    Intracranial aneurysms are acquired lesions (5-10% of the population), a fraction of which rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the exact etiology of intracranial aneurysms formation remains unclear. The low incidence of subarachnoid hemorrhage in comparison with the prevalence of unruptured IAs suggests that the vast majority of intracranial aneurysms do not rupture and that identifying those at highest risk is important in defining the optimal management. The most important factors predicting rupture are aneurysm size and site. In addition to ambiental factors (smoking, excessive alcohol consumption and hypertension), epidemiological studies have demonstrated a familiar influence contributing to the pathogenesis of intracranial aneurysms, with increased frequency in first- and second-degree relatives of people with subarachnoid hemorrhage. In comparison to sporadic aneurysms, familial aneurysms tend to be larger, more often located at the middle cerebral artery, and more likely to be multiple. Other than familiar occurrence, there are several heritable conditions associated with intracranial aneurysm formation, including autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II and IV. The familial occurrence and the association with heritable conditions indicate that genetic factors may play a role in the development of intracranial aneurysms. Genome-wide linkage studies in families and sib pairs with intracranial aneurysms have identified several loci on chromosomes showing suggestive evidence of linkage, particularly on chromosomes 1p34.3-p36.13, 7q11, 19q13.3, and Xp22. For the loci on 1p34.3-p36.13 and 7q11, a moderate positive association with positional candidate genes has been demonstrated (perlecan gene, elastin gene, collagen type 1 A2 gene

  13. Three-dimensional assessment of the effects of high-density embolization material on the absorbed dose in the target for Gamma Knife radiosurgery of arteriovenous malformations.

    PubMed

    Watanabe, Yoichi; Sandhu, Divyajot; Warmington, Leighton; Moen, Sean; Tummala, Ramachandra

    2016-12-01

    OBJECTIVE Arteriovenous malformation (AVM) is an intracranial vascular disorder. Gamma Knife radiosurgery (GKRS) is used in conjunction with intraarterial embolization to eradicate the nidus of AVMs. Clinical results indicate that patients with prior embolization tend to gain less benefit from GKRS. The authors hypothesized that this was partly caused by dosimetric deficiency. The actual dose delivered to the target may be smaller than the intended dose because of increased photon attenuation by high-density embolic materials. The authors performed a phantom-based study to quantitatively evaluate the 3D dosimetric effect of embolic material on GKRS. METHODS A 16-cm-diameter and 12-cm-long cylindrical phantom with a 16-cm-diameter hemispherical dome was printed by a 3D printer. The phantom was filled with radiologically tissue-equivalent polymer gel. To simulate AVM treatment with embolization, phantoms contained Onyx 18. The material was injected into an AVM model, which was suspended in the polymer gel. The phantom was attached to a Leksell frame by standard GK fixation method, using aluminum screws, for imaging. The phantom was scanned by a Phillips CT scanner with the standard axial-scanning protocol (120 kV and 1.5-mm slice thickness). CT-based treatment planning was performed with the GammaPlan treatment planning system (version 10.1.1). The plan was created to cover a fictitious AVM target volume near the embolization areas with eleven 8-mm shots and a prescription dose of 20 Gy to 50% isodose level. Dose distributions were computed using both tissue maximum ratio (TMR) 10 and convolution dose-calculation algorithms. These two 3D dose distributions were compared using an in-house program. Additionally, the same analysis method was applied to evaluate the dosimetric effects for 2 patients previously treated by GKRS. RESULTS The phantom-based analyses showed that the mean dose difference between TMR 10 and convolution doses of the AVM target was no larger than

  14. Autosomal Dominant Inheritance of a Predisposition to Thoracic Aortic Aneurysms and Dissections and Intracranial Saccular Aneurysms

    PubMed Central

    Regalado, Ellen; Medrek, Sarah; Tran-Fadulu, Van; Guo, Dong-Chuan; Pannu, Hariyadarshi; Golabbakhsh, Hossein; Smart, Suzanne; Chen, Julia H.; Shete, Sanjay; Kim, Dong H.; Stern, Ralph; Braverman, Alan C.; Milewicz, Dianna M.

    2013-01-01

    A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.3%) families have one or more members who were at 50% risk to inherit the presumptive gene causing TAAD had an intracranial vascular event. In these families, gender is significantly associated with disease presentation (p <0.001), with intracranial events being more common in women (65.4%) while TAAD events occurred more in men (64.2%,). Twenty-nine of these families had intracranial aneurysms (ICA) that could not be designated as saccular or fusiform due to incomplete data. TGFBR1, TGFBR2, and ACTA2 mutations were found in 4 families with TAAD and predominantly fusiform ICAs. In 15 families, of which 14 tested negative for 3 known TAAD genes, 17 family members who were at risk for inheriting TAAD had saccular ICAs. In 2 families, women who harbored the genetic mutation causing TAAD had ICAs. In 2 additional families, intracranial, thoracic and abdominal aortic aneurysms were observed. This study documents the autosomal dominant inheritance of TAADs with saccular ICAs, a previously recognized association that has not been adequately characterized as heritable.I these families, routine cerebral and aortic imaging for at risk members could prove beneficial for timely medical and surgical management to prevent a cerebral hemorrhage or aortic dissection. PMID:21815248

  15. Echo contrast-enhanced three-dimensional power Doppler of intracranial arteries.

    PubMed

    Postert, T; Braun, B; Pfundtner, N; Sprengelmeyer, R; Meves, S; Przuntek, H; Büttner, T

    1998-09-01

    The purpose of this study was to evaluate the potential of contrast-enhanced three-dimensional (3-D) power Doppler (CE3DPD) in the assessment of intracranial vascular structures, and to compare the results with unenhanced 3-D power Doppler (3DPD) and magnetic resonance angiography (MRA) findings. We insonated 25 patients without cerebrovascular diseases through the temporal bone window using 3DPD and CE3DPD; for comparison, 13 patients underwent MRA. Identification rates of vascular segments and of small branches of intracranial vessels were evaluated by two independent investigators blinded to MRA results. In 21 patients with adequate insonation conditions, CE3DPD significantly improved identification rates compared to 3DPD for the complete visualization of the P1 segment (80.9 vs. 19.0%, p < 0.005, P2 segment (80.9 vs. 42.8%, p < 0.05 and A1 segment (85.7 vs. 38.1%, p < 0.005). Furthermore, CE3DPD depicted, in significantly more examinations, branches of the middle (MCA) and posterior cerebral artery (PCA). Interobserver agreement was higher than 95% for the main intracranial segments and branches of the MCA, but relatively low (80.1-85.7%) for branches of the PCA. In comparison to CE3DPD, MRA identified only parieto-occipital branches of the PCA, temporal branches of the MCA, frontal branches of the anterior cerebral artery and the MCA bifurcation more frequently and accurately. In 4 patients with inadequate acoustic temporal bone windows, the application of a galactose-based microbubble suspension allowed clear 3-D visualization of almost all major intracranial vascular segments and some branches of the large arteries. In conclusion, CE3DPD is a more sensitive ultrasonic tool compared to unenhanced 3-D reconstructions. It makes 3-D ultrasound imaging of the basal cerebral circulation easier to perform and interpret, by providing an improved spatially oriented display of image position. As such, this method may increase operator diagnostic confidence level under

  16. The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study.

    PubMed

    Folz, Benedikt J; Wollstein, Ana Cerra; Alfke, Heiko; Dünne, Anja A; Lippert, Burkard M; Görg, Konrad; Wagner, Hans-Joachim; Bien, Siegfried; Werner, Jochen A

    2004-10-01

    Occult visceral arterio-venous malformations (AVMs) may be a constant threat to patients suffering from hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome (M. ROW). HHT patients predominantly become symptomatic through chronic, recurrent epistaxis, a symptom that can alert physicians at an early stage of the disease. The purpose of this study was to investigate whether occult, visceral arterio-venous malformations could be detected by screening imaging studies in patients suffering from HHT. In a comprehensive diagnostic study, Rendu-Osler-Weber patients were examined for potential visceral arterio-venous malformations by physical examination and non-invasive imaging techniques. The Department of Otolaryngology of the Philipps University of Marburg is a major referral center and coordinated the screening procedures. Thirty-five individuals with the presumed diagnosis of HHT gave informed consent to the screening investigations. Eighteen of 35 individuals were found to suffer from visceral vascular malformations; most of the AVMs were diagnosed in the lung, but also the liver, spleen, brain and eyes were affected. Six patients could be treated preventively by arterial embolization for AVMs of the lung, liver and brain. Comprehensive screening for occult AVMs in HHT patients seems to be justified to avert potential complications in this group of patients.

  17. Malformations in neotropical viperids: qualitative and quantitative analysis.

    PubMed

    Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catão-Dias, J L

    2013-11-01

    Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%).

  18. Primary intracranial solitary leptomeningeal glioma: a report of 3 cases.

    PubMed

    Wakabayashi, K; Shimura, T; Mizutani, N; Koide, A; Yamagiwa, O; Mori, F; Nishiyama, K; Tanaka, R; Takahashi, H

    2002-01-01

    Primary intracranial solitary leptomeningeal gliomas are exceedingly rare. We, therefore, performed a detailed clinical, radiological and pathological analysis to better characterize these tumors in 3 patients (33- and 72-year-old men and a 72-year-old woman). Two of the tumors were located in the frontal region and 1 in the temporal region. Magnetic resonance imaging revealed a well circumscribed large lesion (maximal diameter 4 - 6 cm) with peritumoral edema, mixed low- and isosignal intensity on T1-weighted images, hypersignal intensity on T2-weighted images and non-homogeneous contrast enhancement. External carotid angiography demonstrated a vascular supply to these tumors via branches of the middle meningeal artery. Gross total resection was achieved in all patients. The pathological diagnosis was glioblastoma in 2 patients and oligodendroglioma in 1. The MIB-1 nuclear labeling index ranged from 11.8% - 23.6% (mean 18.2%). Local tumor recurrence was documented in 2 patients after 8 and 11 months, respectively. The other patient with glioblastoma developed a metastasis to the femur 39 months after craniotomy. A definitive diagnosis can be made by careful radiological assessment and histopathological examination.

  19. Treatment of ruptured intracranial aneurysms yesterday and now

    PubMed Central

    Hammer, Alexander; Steiner, Anahi; Kerry, Ghassan; Ranaie, Gholamreza; Baer, Ingrid; Hammer, Christian M.; Kunze, Stefan; Steiner, Hans-Herbert

    2017-01-01

    Objective This prospective study is designed to detect changes in the treatment of ruptured intracranial aneurysms over a period of 17 years. Methods We compared 361 treated cases of aneurysm occlusion after subarachnoid hemorrhage from 1997 to 2003 with 281 cases from 2006 to 2014. Specialists of neuroradiology and vascular neurosurgery decided over the modality assignment. We established a prospective data acquisition in both groups to detect significant differences within a follow-up time of one year. With this setting we evaluated the treatment methods over time and compared endovascular with microsurgical treatment. Results When compared to the earlier group, microsurgical treatment was less frequently chosen in the more recent collective because of neck-configuration. Endovascular treatment was chosen more frequently over time (31.9% versus 48.8%). Occurrence of initial symptomatic ischemic stroke was significantly lower in the clipping group compared to the endovascular group and remained stable over time. The number of reinterventions due to refilled treated aneurysms significantly decreased in the endovascular group at one-year follow-up, but the significantly better occlusion- and reintervention-rate of the microsurgical group persisted. The rebleeding rate in the endovascular group at one year follow-up decreased from 6.1% to 2.2% and showed no statistically significant difference to the microsurgical group, anymore (endovascular 2.2% versus microsurgical 0.0%, p = 0.11). Conclusion Microsurgical clipping still has some advantages, however endovascular treatment is improving rapidly. PMID:28257502

  20. Vascular permeability, vascular hyperpermeability and angiogenesis

    PubMed Central

    Nagy, Janice A.; Benjamin, Laura; Zeng, Huiyan; Dvorak, Ann M.

    2008-01-01

    The vascular system has the critical function of supplying tissues with nutrients and clearing waste products. To accomplish these goals, the vasculature must be sufficiently permeable to allow the free, bidirectional passage of small molecules and gases and, to a lesser extent, of plasma proteins. Physiologists and many vascular biologists differ as to the definition of vascular permeability and the proper methodology for its measurement. We review these conflicting views, finding that both provide useful but complementary information. Vascular permeability by any measure is dramatically increased in acute and chronic inflammation, cancer, and wound healing. This hyperpermeability is mediated by acute or chronic exposure to vascular permeabilizing agents, particularly vascular permeability factor/vascular endothelial growth factor (VPF/VEGF, VEGF-A). We demonstrate that three distinctly different types of vascular permeability can be distinguished, based on the different types of microvessels involved, the composition of the extravasate, and the anatomic pathways by which molecules of different size cross-vascular endothelium. These are the basal vascular permeability (BVP) of normal tissues, the acute vascular hyperpermeability (AVH) that occurs in response to a single, brief exposure to VEGF-A or other vascular permeabilizing agents, and the chronic vascular hyperpermeability (CVH) that characterizes pathological angiogenesis. Finally, we list the numerous (at least 25) gene products that different authors have found to affect vascular permeability in variously engineered mice and classify them with respect to their participation, as far as possible, in BVP, AVH and CVH. Further work will be required to elucidate the signaling pathways by which each of these molecules, and others likely to be discovered, mediate the different types of vascular permeability. PMID:18293091

  1. Chiari Type I malformation presenting with bilateral hearing loss.

    PubMed

    Dolgun, Habibullah; Turkoglu, Erhan; Kertmen, Hayri; Yilmaz, Erdal R; Sekerci, Zeki

    2009-09-01

    Chiari Type I malformations can present with several clinical signs and symptoms. We describe a 44-year-old female patient presenting with bilateral hearing loss with hydrocephalus coexisting with Chiari Type I malformation and a unilateral arachnoid cyst. Thus, sensorineural hearing loss may be caused by hydrocephalus with Chiari Type I malformation. The placement of a ventriculoperitoneal shunt without a posterior fossa decompression is an effective treatment.

  2. [Diagnosis of fetal malformations with ultrasound--state of development].

    PubMed

    Fendel, M; Fendel, H

    1983-01-01

    Ultrasonography is of great importance for the prenatal diagnosis of fetal malformations and abnormalities. An early diagnosis in the second trimester is of great interest for an intrauterine or an extrauterine therapy planning (the choice of the time and mode of delivery). Defects of the neural tube including hydrocephalus, malformations of the extremities, the gastrointestinal tract, omphaloceles, the urogenital and cardiac system are described. Four cases of fetal malformations are presented: fetal myelomeningocele, hydrocephalus, bilateral hydronephrosis and lymphangioma with fetal ascites.

  3. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  4. Method for noninvasive intracranial pressure measurement

    SciTech Connect

    Sinha, Dipen N.

    2000-01-01

    An ultrasonic-based method for continuous, noninvasive intracranial pressure (ICP) measurement and monitoring is described. The stress level in the skull bone is affected by pressure. This also changes the interfacial conditions between the dura matter and the skull bone. Standing waves may be set up in the skull bone and the layers in contact with the bone. At specific frequencies, there are resonance peaks in the response of the skull which can be readily detected by sweeping the excitation frequency on an excitation transducer in contact with a subject's head, while monitoring the standing wave characteristics from the signal received on a second, receiving transducer similarly in contact with the subject's head. At a chosen frequency, the phase difference between the excitation signal and the received signal can be determined. This difference can be related to the intracranial pressure and changes therein.

  5. Intracranial aneurysm formation after radiotherapy for medulloblastoma

    PubMed Central

    Kamide, Tomoya; Mohri, Masanao; Misaki, Kouichi; Uchiyama, Naoyuki; Nakada, Mitsutoshi

    2016-01-01

    Background: The development of an intracranial aneurysm after radiotherapy is rare but secondary effect of cranial irradiation in a primary disease treatment. Case Description: The patient was a 17-year-old male adolescent who was diagnosed as having a posterior fossa medulloblastoma when he was 8 years old. He had undergone tumor resection with radiotherapy and chemotherapy. A distal posterior inferior cerebellar artery aneurysm was identified by magnetic resonance imaging 8 years after radiotherapy and grew rapidly throughout the next 1 year. The patient underwent microsurgical clipping and was discharged without deficit. Conclusion: This experience demonstrates that physicians caring for patients who have undergone intracranial radiotherapy should carefully consider the possibility of an aneurysmal formation when conducting follow-up imaging. PMID:27999713

  6. Idiopathic intracranial hypertension presenting as postpartum headache

    PubMed Central

    Mathew, Mariam; Salahuddin, Ayesha; Mathew, Namitha R.; Nandhagopal, Ramachandiran

    2016-01-01

    Postpartum headache is described as headache and neck or shoulder pain during the first 6 weeks after delivery. Common causes of headache in the puerperium are migraine headache and tension headache; other causes include pre-eclampsia/eclampsia, post-dural puncture headache, cortical vein thrombosis, subarachnoid hemorrhage, posterior reversible leukoencephalopathy syndrome, brain tumor, cerebral ischemia, meningitis, and so forth. Idiopathic intracranial hypertension (IIH) is a rare cause of postpartum headache. It is usually associated with papilledema, headache, and elevated intracranial pressure without any focal neurologic abnormality in an otherwise healthy person. It is more commonly seen in obese women of reproductive age group, but rare during pregnancy and postpartum. We present a case of IIH who presented to us 18 days after cesarean section with severe headache and was successfully managed. PMID:26818168

  7. EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.

    PubMed

    Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

    2014-03-01

    An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases.

  8. Evidence of endothelial progenitor cells in the human brain and spinal cord arteriovenous malformations

    PubMed Central

    Gao, Peng; Chen, Yongmei; Lawton, Michael T.; Barbaro, Nicholas M.; Yang, Guo-Yuan; Su, Hua; Ling, Feng; Young, William L.

    2010-01-01

    Objective Brain and spinal cord arteriovenous malformations (AVMs) are characterized by aberrant angiogenesis and vascular remodeling. Endothelial progenitor cells (EPCs) can be recruited by stromal cell-derived factor-1 (SDF-1), and participate in vascular remodeling in both physiological and pathological settings. We hypothesized that there was increased EPC levels in the brain and spinal cord AVM nidus. Methods Microsurgical specimens without endovascular embolization and radiosurgery from the brain (n=12) and spinal cord (n=5) AVMs were examined. Hemangioblastoma, meningioma, cerebral cortex obtained from epilepsy surgery, and the basilar artery (BA) from the autopsy were chosen for control comparisons. EPCs were identified as cells that were double-positive for the stem cell marker CD133 and the endothelial cell marker VEGFR-2 (vascular endothelial growth factor receptor-2 or KDR). In addition, SDF-1 was characterized by immunohistochemistry. Results Both brain and spinal AVM tissues displayed more CD133, SDF-1, and CD68-positive signals than epilepsy and basilar artery control tissues. The level of EPCs was increased in the brain and spinal cord AVM nidus, mainly at the edge of the vessel wall. The expression of SDF-1 was co-localized with CD31-positive and α-smooth muscle cells, and was predominantly found within the vessel wall. Conclusion Our data demonstrate that EPCs are present in the nidus of the brain and spinal cord AVMs, which may mediate pathological vascular remodeling and impact the clinical course of AVMs. PMID:20881566

  9. Intracranial Carotid Calcification on Cranial Computed Tomography

    PubMed Central

    Subedi, Deepak; Zishan, Umme Sara; Chappell, Francesca; Gregoriades, Maria-Lena; Sudlow, Cathie; Sellar, Robin

    2015-01-01

    Background and Purpose— Intracranial internal carotid artery calcification is associated with cerebrovascular risk factors and stroke, but few quantification methods are available. We tested the reliability of visual scoring, semiautomated Agatston score, and calcium volume measurement in patients with recent stroke. Methods— We used scans from a prospective hospital stroke registry and included patients with anterior circulation ischemic stroke or transient ischemic stroke whose noncontrast cranial computed tomographic scans were available electronically. Two raters measured semiautomatic quantitative Agatston score, and calcium volume, and performed qualitative visual scoring using the original 4-point Woodcock score and a modified Woodcock score, where each image on which the internal carotid arteries appeared was scored and the slice scores summed. Results— Intra- and interobserver coefficient of variations were 8.8% and 16.5% for Agatston, 8.8% and 15.5% for calcium volume, and 5.7% and 5.4% for the modified Woodcock visual score, respectively. The modified Woodcock visual score correlated strongly with both Agatston and calcium volume quantitative measures (both R2=0.84; P<0.0001); calcium volume increased by 0.47-mm/point increase in modified Woodcock visual score. Intracranial internal carotid artery calcification increased with age by all measures (eg, visual score, Spearman ρ=0.4; P=0.005). Conclusions— Visual scores correlate highly with quantitative intracranial internal carotid artery calcification measures, with excellent observer agreements. Visual intracranial internal carotid artery scores could be a rapid and practical method for epidemiological studies. PMID:26251250

  10. Minimally Invasive Diagnosis of Secondary Intracranial Lymphoma

    PubMed Central

    Healy, G. M.; Redmond, C. E.; Stocker, E.; Connaghan, G.; Skehan, S. J.; Killeen, R. P.

    2016-01-01

    Diffuse large B cell lymphomas (DLBCL) are an aggressive group of non-Hodgkin lymphoid malignancies which have diverse presentation and can have high mortality. Central nervous system relapse is rare but has poor survival. We present the diagnosis of primary mandibular DLBCL and a unique minimally invasive diagnosis of secondary intracranial recurrence. This case highlights the manifold radiological contributions to the diagnosis and management of lymphoma. PMID:28018686

  11. Fractionated radiotherapy and radiosurgery of intracranial meningiomas.

    PubMed

    Biau, J; Khalil, T; Verrelle, P; Lemaire, J-J

    2015-06-19

    This review focuses on the role of radiosurgery and fractionated radiotherapy in the management of intracranial meningiomas, which are the most common benign intracranial tumors. Whenever feasible, surgery remains a cornerstone of treatment in effective health care treatment where modern radiotherapy plays an important role. Irradiation can be proposed as first-line treatment, as adjuvant treatment, or as a second-line treatment after recurrence. Stereotactic radiosurgery consists of delivering, a high-dose of radiation with high precision, to the tumor in a single-fraction with a minimal exposure of surrounding healthy tissue. Stereotactic radiosurgery, especially with the gamma knife technique, has reached a high level of success for the treatment of intracranial meningiomas with excellent local control and low morbidity. However, stereotactic radiosurgery is limited by tumor size,<3-4cm, and location, i.e. reasonable distance from the organs at risk. Fractionated radiation therapy is an interesting alternative (5 to 6weeks treatment time) for large inoperable tumors. The results of fractionated radiation therapy seem encouraging as regards both local control and morbidity although long-term prospective studies are still needed.

  12. The Technique of Endovascular Intracranial Revascularization

    PubMed Central

    Connors, John J.; Wojak, Joan C.; Hoppe, Blaine H.

    2014-01-01

    Intracranial atherosclerosis was traditionally believed to carry a risk of stroke of 8% to 22% per annum. The annualized stroke rate in the recent stenting and aggressive medical management for preventing stroke in intracranial stenosis (SAMMPRIS) trial medical management arm was 12.2%. This trial was halted due to excessive periprocedural events in the stent arm. This stroke rate is still unacceptably, high and a treatment strategy is still needed. SAMMPRIS has no bearing on angioplasty alone. Angioplasty alone has always been our primary intervention for intracranial atherosclerosis and remains so to this day due to its relative simplicity, low complication rate, and efficacy. We have, however, made adjustments to our patient management regimen based on the results of SAMMPRIS. This paper outlines our current patient selection, procedural technique, and post-procedure management. The complications we have encountered while developing our technique are described along with how to avoid them and how to manage them. Our most recent results (since previous publications) are also discussed. PMID:25505444

  13. Gamma Knife radiosurgery for intracranial hemangioblastoma.

    PubMed

    Silva, Danilo; Grabowski, Mathew M; Juthani, Rupa; Sharma, Mayur; Angelov, Lilyana; Vogelbaum, Michael A; Chao, Samuel; Suh, John; Mohammadi, Alireza; Barnett, Gene H

    2016-09-01

    Gamma knife radiosurgery (GKRS) has become a treatment option for intracranial hemangioblastomas, especially in patients with poor clinical status and also high-risk surgical candidates. The objective of this study was to analyze clinical outcome and tumor control rates. Retrospective chart review revealed 12 patients with a total of 20 intracranial hemangioblastomas treated with GKRS from May 1998 until December 2014. Kaplan-Meier plots were used to calculate the actuarial local tumor control rates and rate of recurrence following GKRS. Univariate analysis, including log rank test and Wilcoxon test were used on the Kaplan-Meier plots to evaluate the predictors of tumor progression. Two-tailed p value of <0.05 was considered as significant. Median follow-up was 64months (2-184). Median tumor volume pre-GKRS was 946mm(3) (79-15970), while median tumor volume post-GKRS was 356mm(3) (30-5404). Complications were seen in two patients. Tumor control rates were 100% at 1year, 90% at 3years, and 85% at 5years, using the Kaplan-Meier method. There were no statistically significant univariate predictors of progression identified, although there was a trend towards successful tumor control in solid tumors (p=0.07). GKRS is an effective and safe option for treating intracranial hemangioblastoma with favorable tumor control rates.

  14. Angioplasty and Stenting for Intracranial Stenosis

    PubMed Central

    IZUMI, Takashi; IMAMURA, Hirotoshi; SAKAI, Nobuyuki; MIYACHI, Shigeru

    2014-01-01

    Of the patients enrolled in the Japanese Registry of Neuroendovascular Therapy (JR-NET), a surveillance study in Japanese, 1133 patients who underwent intracranial percutaneous transluminal angioplasty (PTA)/stenting for intracranial stenosis during the period from 2005 to 2009 were investigated. A technical success was achieved in 98.3% of the patients, and 70.5% and 7.5% had a residual stenosis of < 30% and ≥ 50%, respectively. The incidence of ischemic complications and hemorrhagic complications was as low as 7.7% and 2.5%, respectively, but tended to increase in patients who underwent stenting. While a significant correlation with ischemic complications was observed in previously untreated patients and patients who underwent stenting followed by post-dilatation, a significant correlation with hemorrhagic complications was observed in patients who received emergency treatment and those treated between 24 hours and 14 days of the onset. Flexible intracranial stents are expected to contribute to improvement in the treatment outcome. PMID:24390191

  15. Spaceflight-Induced Intracranial Hypertension: An Overview

    NASA Technical Reports Server (NTRS)

    Traver, William J.

    2011-01-01

    This slide presentation is an overview of the some of the known results of spaceflight induced intracranial hypertension. Historical information from Gemini 5, Apollo, and the space shuttle programs indicated that some vision impairment was reported and a comparison between these historical missions and present missions is included. Optic Disc Edema, Globe Flattening, Choroidal Folds, Hyperopic Shifts and Raised Intracranial Pressure has occurred in Astronauts During and After Long Duration Space Flight. Views illustrate the occurrence of Optic Disc Edema, Globe Flattening, and Choroidal Folds. There are views of the Arachnoid Granulations and Venous return, and the question of spinal or venous compliance issues is discussed. The question of increased blood flow and its relation to increased Cerebrospinal fluid (CSF) is raised. Most observed on-orbit papilledema does not progress, and this might be a function of plateau homeostasis for the higher level of intracranial pressure. There are seven cases of astronauts experiencing in flight and post flight symptoms, which are summarized and follow-up is reviewed along with a comparison of the treatment options. The question is "is there other involvement besides vision," and other Clinical implications are raised,

  16. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

    Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

    2014-01-01

    BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. RESULTS Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. CONCLUSIONS Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.) PMID:25140959

  17. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  18. [Recurrent meningitis in inner ear malformations].

    PubMed

    Claros, Pedro; Matusialk, Monika

    2008-01-01

    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  19. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  20. Intrapulmonary arteriovenous malformation causing recurrent strokes

    PubMed Central

    Abed, Kareem; Premachandra, Lalith; Vankawala, Viren; Sun, Qi

    2015-01-01

    This case reveals a left pulmonary arteriovenous malformation (PAVM) as a cause of recurrent cerebral and cerebellar emboli. Extensive workup excluded other etiologies of emboli formation, and the patient was transferred to a tertiary care center for percutaneous embolotherapy. In the absence of a clear etiology, PAVM should be considered as a potential cause of recurrent cerebral emboli, especially in the absence of carotid disease, intracardiac thrombus, atrial septal defect, and patent foramen ovale. Diagnostic work-up for the PAVM can be cost effective and expedited by utilization of agitated saline contrast echocardiography, as noted in our case. PMID:26486114

  1. Ventriculoperitoneal shunt for intracranial hypertension in cryptococcal meningitis without hydrocephalus.

    PubMed

    Petrou, Panayota; Moscovici, Samuel; Leker, Ronen R; Itshayek, Eyal; Gomori, John M; Cohen, José E

    2012-08-01

    The use of a ventriculoperitoneal (VP) shunt to treat uncontrollable intracranial hypertension in patients with cryptococcal meningitis without hydrocephalus is somewhat unusual and still largely unreported. However, uncontrollable intracranial hypertension without hydrocephalus in these patients is a potentially life-threatening condition. Early diagnosis and shunt placement are essential to improve survival and neurological function. We report uncontrollable intracranial hypertension without hydrocephalus in a 23-year-old woman, which was successfully managed by VP shunt placement.

  2. Successful laparoscopic bipolar coagulation of a large arteriovenous malformation due to invasive trophoblastic disease: a case report.

    PubMed

    Corusic, Ante; Barisic, Dubravko; Lovric, Helena; Despot, Albert; Planinic, Pavao

    2009-01-01

    We report the case of an acquired large arteriovenous malformation due to invasive gestational trophoblastic tumor that was treated successfully with laparoscopic surgery. After 4 cycles of methotrexate chemotherapy, a vascular tangle (volume, 28 cm(3)) was noted that emerged from the right uterine horn, invading the broad ligament adjacent to the uterine artery. Doppler ultrasonography along with magnetic resonance arteriography confirmed the diagnosis. The location, size and relation of this arteriovenous malformation to the uterine vasculature demanded urgent intervention. Laparoscopy was performed, and bipolar coagulation of the ovarian and uterine artery feeding branches was achieved after surgical resection of the tumor. The defect in the uterine wall with an intact uterine cavity was reconstructed using sutures. There were no intraoperative or postoperative complications. The patient underwent chemotherapy, and at 2-month follow-up was cured and has since had regular menstrual cycles.

  3. Progressive intracranial fusiform aneurysms and T-cell immunodeficiency.

    PubMed

    Piantino, Juan A; Goldenberg, Fernando D; Pytel, Peter; Wagner-Weiner, Linda; Ansari, Sameer A

    2013-02-01

    In the pediatric population, intracranial fusiform aneurysms have been associated with human immunodeficiency virus/acquired immunodeficiency syndrome and rarely with opportunistic infections related to other immunodeficiencies. The HIV virus and other infectious organisms have been implicated in the pathophysiology of these aneurysms. We present a child with T-cell immunodeficiency but no evidence of human immunodeficiency virus or opportunistic intracranial infections that developed progressive bilateral fusiform intracranial aneurysms. Our findings suggest a role of immunodeficiency or inflammation in the formation of some intracranial aneurysms.

  4. [Idiopathic intracranial hypertension and spontaneous cerebrospinal fluid fistula. Usefulness of intracranial pressure monitoring].

    PubMed

    Horcajadas Almansa, Angel; Román Cutillas, Ana; Jorques Infante, Ana; Ruiz Gómez, José; Busquier, Heriberto

    Spontaneous cerebrospinal fluid (CSF) fistulas are rather common in daily practice. The aim of the surgical treatment is closure of the leak, but recurrences are quite frequent. The association between spontaneous CSF fistulas and idiopathic intracranial hypertension (IIH) is not uncommon, and this is probably the cause of the low rate of success of the surgical treatment. Symptoms of IIH associated with spontaneous CSF fistula are atypical, and diagnosis is often missed. Continuous intracranial pressure monitoring is very useful in the diagnosis of chronic IIH and in patients with spontaneous CSF fistula, as it helps in making decisions on the treatment of these patients.

  5. [Dolichoectatic intracranial arteries. Advances in images and therapeutics].

    PubMed

    Casas Parera, I; Abruzzi, M; Lehkuniec, E; Schuster, G; Muchnik, S

    1995-01-01

    Dolichoectasia of intracranial arteries is an infrequent disease with an incidence less than 0.05% in general population. It represents 7% of all intracranial aneurysms. Commonly seen in middle age patients with severe atherosclerosis and hypertension, the affected arteries include the basilar artery, supraclinoid segment of the internal carotid artery, middle, anterior and posterior cerebral arteries; males are more frequently affected. The clinical features of these fusiform aneurysms are divided in three categories: ische-mic, cranial nerve compression and signs from mass effect. Hemorrhage may also occur. Nine patients with symptomatic cerebral blood vessel dolichoectasias are presented. Six of them were males with moderate or severe hypertension. Lesions were confined to the basilar artery in 3 cases, carotid arteries and the middle cerebral artery in 1 case, and both systems were affected in 4 patients. Middle cerebral arteries were affected in 5 cases and the anterior cerebral artery in one. An isolated fusiform aneurysm of the posterior cerebral artery is also presented (case 8) (Table 3). Motor or sensory deficits, ataxia, dementia, hemifacial spasm and parkinsonism were observed. One patient died from cerebro-meningeal hemorrhage (Table 2). All patients were studied with computerized axial tomography of the brain, 5 cases with four vessel cerebral angiography, 4 cases with magnetic resonance imaging (MRI) and case 5 with MRI angiography. Clinical symptoms depend on the affected vascular territory, size of the aneurysm and compression of adjacent structures. The histopathologic findings are atheromatous lesions, disruption of the internal elastic membrane and fibrosis of the muscular wall. The resultant is a diffuse deficiency of the muscular wall and the internal elastic membrane. Recent advances in neuroimaging such as better resolution of CT scan, magnetic resonance images (MRI) and MRI angiography increased the diagnosis of this pathology showing

  6. Treatable intracranial hypertension in patients with lupus nephritis.

    PubMed

    Nampoory, M R; Johny, K V; Gupta, R K; Constandi, J N; Nair, M P; al-Muzeiri, I

    1997-01-01

    Idiopathic intracranial hypertension is a disorder of intracerebral pressure regulation and patients run the risk of permanent visual loss. Intracranial hypertension (IH) has been reported rarely in systemic lupus erythematosus (SLE). We reviewed the medical records of 127 patients with lupus nephritis (LN) who were followed up from 1987 to 1996 in our unit. There were six patients with IH which gave a disease prevalence of 4.7% in those with LN. All were females giving a disease prevalence of 5.2% for that sex, a high rate of occurrence of IH in patients with LN. Their age ranged from 22 to 34 y (27.8 +/- 3.6 y). Headache, vomiting and diplopia were the common presenting symptoms and had started 7.3 +/- 4.4 weeks prior to the diagnosis of IH. The cerebrospinal (CSF) opening pressure (413.3 +/- 77.0 mmH2O) was raised in all cases. Biochemical and cytological analyses of CSF were normal. The only abnormal radiological finding was partially empty sella in one patient on magnetic resonance imaging (MRI) (performed in three patients) or computed tomography (CT) (performed in all patients). All patients had serological evidences of active lupus disease at the time of diagnosis of IH. The renal histology was WHO type IV in four cases and III and V in one each indicating severe renal involvement. Laboratory evidences of procoagulant activity were found in the form of positive anticardiolipin antibody (aCL) in two patients, lupus anticoagulant (LA) in two and an otherwise unexplained isolated prolongation of activated partial thromboplastin time (APTT) in the other two. Clinically, one or more episodes of symptomatic venous or arterial thrombosis had occurred in all subjects. In addition to symptomatic measures, all subjects were treated with prednisolone, azathioprine, cyclophosphamide and plasmapheresis according to the protocol of our unit. One patient who did not receive plasmapheresis and cyclophosphamide had a relapse while all others recovered completely. None

  7. Onyx(®) in endovascular treatment of cerebral arteriovenous malformations - a review.

    PubMed

    Szajner, Maciej; Roman, Tomasz; Markowicz, Justyna; Szczerbo-Trojanowska, Małgorzata

    2013-07-01

    Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system. In most cases, the disorder may be asymptomatic. The objective of endovascular AVM treatment is set individually for each case upon consultations with a neurosurgeon and a neurologist. The endpoint of the treatment should consist in prevention of AVM bleeding in a management procedure characterized by a significantly lower risk of complications as compared to the natural history of AVM. Endovascular interventions within AVM may include curative exclusion of AVM from circulation, embolization adjuvant to resection or radiation therapy, targeted closure of a previously identified bleeding site as well as palliative embolization. Onyx was first described in the 1990s. It is a non-adhesive and radiolucent compound. Onyx-based closure of the lumen of the targeted vessel is obtained by means of precipitation. The process is enhanced peripherally to the main flux of the injected mixture. This facilitates angiographic monitoring of embolization at any stage. The degree of lumen closure is associated with the location of the vessel. Supratentorial and cortical locations are most advantageous. Dense and plexiform structure of AVM nidus as well as a low number of supplying vessels and a single superficial drainage vein are usually advantageous for Onyx administration. Unfavorable factors include nidus drainage into multiple compartments as well as multiarterial supply of the AVM, particularly from meningeal arteries, en-passant arteries or perforating feeders. Onyx appears to be a safe and efficient material for embolization of cerebral AVMs, also in cases of intracranial bleeding associated with AVM. Curative embolization of small cerebral AVMs is an efficient and safe alternative to neurosurgical and radiosurgical methods. Careful angiographic assessment of individual arteriovenous malformations should be performed before each Onyx administration.

  8. Ten years of laser treatment of congenital vascular disorders: techniques and results

    NASA Astrophysics Data System (ADS)

    Philipp, Carsten M.; Berlien, Hans-Peter; Poetke, Margitta; Waldschmidt, Juergen

    1994-12-01

    During the period of January 1984 - July 1993, we have treated 611 children with more than 2000 lesions of congenital vascular disorders (CVD) such as hemangiomas and vascular malformations. This number does not include the patients with port wine stains, which also have been treated by means of laser. Most of the CVD patients (n equals 467) presented hemangiomas of the face, the anogenital region, and the extremities, some were located in the trachea or mouth or in the urogenital tract. All of these hemangiomas were growing prior to intervention or showed complications such as bleeding, ulceration, superinfection, or obstruction. Nearly a quarter (n equals 144) of the patients presented vascular malformations, either of singular vessel type involvement or of mixed vascular genesis (venous, arterio- venous, veno-lymphatic or lymphatic) with various complications like tracheal obstruction or recurrent thrombophlebitis. According to our step program, which is based on a clinical classification, the hemangiomas were treated as early as possible, while the vascular malformations were only treated with laser when no other therapeutic technique (embolization, resection) was suitable. All patients were referred for laser treatment from other centers. The lasers used were Nd:YAG and Argon lasers with transcutaneous application with or without continuous ice-cube surface cooling or interstitial laser application. The treatments were performed either on in- or outpatient basis according to age, localization and with good to excellent results in most cases and a complication rate of less than 2%.

  9. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  10. Stenogyria - not only in Chiari II malformation.

    PubMed

    Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Brągoszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

    2014-12-15

    Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory.

  11. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  12. Sirenomelia and caudal malformations in two families.

    PubMed

    Gerard, Marion; Layet, Valérie; Costa, Teresa; Roumazeilles, Yves; Chenal, Pierre; Cailliez, Daniel; Gerard, Bénédicte

    2012-07-01

    We report on two families with co-occurrence of sirenomelia and caudal malformations. In the first family, the mother had undergone surgery for a short form of imperforate anus. Her first pregnancy was terminated because of bilateral renal agenesis with oligohydramnios. Her second pregnancy was interrupted because of sirenomelia. The second family was referred to us because of caudal malformation in their two children. The parents' spinal radiographs were normal. The first pregnancy resulted in a girl with imperforate anus, absence of S3-S5 and coccyx, abnormal pelvic floor, and an almost bifid anteriorly located bladder. The second pregnancy resulted in a baby girl with sirenomelia. No diabetes was present during the pregnancies in either of these two families. These families confirm the hypothesis that major genes are responsible for the embryogenesis of the caudal part of the embryo, with variable expression, as has been already described in sirenomelia mouse models (CYP26A1, BMP7/tsg). Molecular studies are underway in these families and in sporadic cases in our laboratory to explore the genetic basis of sirenomelia in humans.

  13. Plant Vascular Biology 2013: vascular trafficking.

    PubMed

    Ursache, Robertas; Heo, Jung-Ok; Helariutta, Ykä

    2014-04-01

    About 200 researchers from around the world attended the Third International Conference on Plant Vascular Biology (PVB 2013) held in July 2013 at the Rantapuisto Conference Center, in Helsinki, Finland (http://www.pvb2013.org). The plant vascular system, which connects every organ in the mature plant, continues to attract the interest of researchers representing a wide range of disciplines, including development, physiology, systems biology, and computational biology. At the meeting, participants discussed the latest research advances in vascular development, long- and short-distance vascular transport and long-distance signalling in plant defence, in addition to providing a context for how these studies intersect with each other. The meeting provided an opportunity for researchers working across a broad range of fields to share ideas and to discuss future directions in the expanding field of vascular biology. In this report, the latest advances in understanding the mechanism of vascular trafficking presented at the meeting have been summarized.

  14. Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

    PubMed

    Buell, Thomas J; Heiss, John D; Oldfield, Edward H

    2015-10-01

    This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms.

  15. Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus.

    PubMed

    Whipple, Katherine M; Godfrey, Kyle J; Solomon, James P; Lin, Jonathan H; Korn, Bobby S; Kikkawa, Don O

    Glomuvenous malformations (GVMs), previously referred to as glomus tumors or glomangiomas, are benign, mesenchymal venous malformations arising from glomus bodies. Glomus bodies are modified smooth muscle neuromyoarterial structures involved in temperature regulation via blood shunting. These classically occur in the digits but can occur in other locations. The authors present a case of a periorbital GVM presented following blunt trauma to the area.

  16. [The progress of inner ear malformation in radiological research].

    PubMed

    Kong, Dehua; Fu, Kuang; Zhao, Hui

    2016-01-01

    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  17. Klippel-Feil syndrome and Dandy-Walker malformation.

    PubMed

    Karaman, A; Kahveci, H

    2011-01-01

    The Klippel-Feil deformity is a complex of osseous and visceral anomalies, which include low hairline, platybasia, fused cervical vertebrae with a short neck, and deafness. Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus. Herein, we report a case with Klippel-Feil syndrome and Dandy-Walker malformation.

  18. Variations of some elements in cadmium-induced malformed fish

    SciTech Connect

    Muramoto, S.

    1981-08-01

    Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

  19. Circulating microRNA: a novel potential biomarker for early diagnosis of Intracranial Aneurysm Rupture a case control study

    PubMed Central

    2013-01-01

    Objective To investigate warning effect of serum miRNA for intracranial aneurysm rupture through microarray hybridization. Methods 24 were selected from 560 patients in our department and divided into group A, B, C and D. They are aneurysms with daughter aneurysms group, aneurysm without daughter aneurysms group, ruptured aneurysms group and angiography negative group. Then a microarray study was carried out using serum miRNA. Differentially expressed miRNAs were identified. Cluster analysis was performed in order to make the results looks more intuitive and potential gene targets were retrieved from miRNA target prediction databases. Results Microarray study identified 86 miRNAs with significantly different (p < 0.05) expression levels between three experimental groups and control group. Among them 69 are up-regulated and 17 are down-regulated. All miRNAs in group A are up-regulated, while there are up and down-regulated in group B and C. A total of 8291 predicted target genes are related to these miRNAs. Bioinformatic analysis revealed that several target genes are involved in apoptosis and activation of cells associated with function of vascular wall. Conclusion Our gene level approach reveals several different serum miRNAs between normal people and aneurysm patients, as well as among different phases of aneurysm, suggesting that miRNA may participate in the regulation of the occurrence and development of intracranial aneurysm, and also have warning effect for intracranial aneurysm rupture. All differently expressed miRNA in group A are up-regulated, which may suggesting protective function of miRNA for intracranial vascular wall. PMID:24279374

  20. Aberrant Lymphatic Endothelial Progenitors in Lymphatic Malformation Development

    PubMed Central

    Wu, June K.; Kitajewski, Christopher; Reiley, Maia; Keung, Connie H.; Monteagudo, Julie; Andrews, John P.; Liou, Peter; Thirumoorthi, Arul; Wong, Alvin

    2015-01-01

    Lymphatic malformations (LMs) are vascular anomalies thought to arise from dysregulated lymphangiogenesis. These lesions impose a significant burden of disease on affected individuals. LM pathobiology is poorly understood, hindering the development of effective treatments. In the present studies, immunostaining of LM tissues revealed that endothelial cells lining aberrant lymphatic vessels and cells in the surrounding stroma expressed the stem cell marker, CD133, and the lymphatic endothelial protein, podoplanin. Isolated patient-derived CD133+ LM cells expressed stem cell genes (NANOG, Oct4), circulating endothelial cell precursor proteins (CD90, CD146, c-Kit, VEGFR-2), and lymphatic endothelial proteins (podoplanin, VEGFR-3). Consistent with a progenitor cell identity, CD133+ LM cells were multipotent and could be differentiated into fat, bone, smooth muscle, and lymphatic endothelial cells in vitro. CD133+ cells were compared to CD133− cells isolated from LM fluids. CD133− LM cells had lower expression of stem cell genes, but expressed circulating endothelial precursor proteins and high levels of lymphatic endothelial proteins, VE-cadherin, CD31, podoplanin, VEGFR-3 and Prox1. CD133− LM cells were not multipotent, consistent with a differentiated lymphatic endothelial cell phenotype. In a mouse xenograft model, CD133+ LM cells differentiated into lymphatic endothelial cells that formed irregularly dilated lymphatic channels, phenocopying human LMs. In vivo, CD133+ LM cells acquired expression of differentiated lymphatic endothelial cell proteins, podoplanin, LYVE1, Prox1, and VEGFR-3, comparable to expression found in LM patient tissues. Taken together, these data identify a novel LM progenitor cell population that differentiates to form the abnormal lymphatic structures characteristic of these lesions, recapitulating the human LM phenotype. This LM progenitor cell population may contribute to the clinically refractory behavior of LMs. PMID:25719418