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Sample records for intracranial vascular malformations

  1. Megadolicho vascular malformation of the intracranial arteries.

    PubMed

    Lodder, J; Janevski, B; van der Lugt, P J

    1981-01-01

    A patient is presented suffering a hemiparesis. Megadolicho-vascular malformation of the intracranial part of the internal carotid arteries and some of its branches and of the basilar artery was suggested by CT and confirmed by angiography. The value of CT compared with angiography in relation to intracranial megadolicho vascular malformations is discussed. PMID:6273040

  2. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  3. 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.

  4. Angiographically occult vascular malformation of the intracranial accessory nerve: case report.

    PubMed

    Terterov, Sergei; McLaughlin, Nancy; Vinters, Harry; Martin, Neil A

    2016-07-01

    Angiographically occult cerebral vascular malformations (AOVMs) are usually found in the supratentorial brain parenchyma. Uncommonly, AOVMs can be found within the cavernous sinus or basal cisterns and can be associated with cranial nerves. AOVMs involving the intracranial segment of the spinal accessory nerve have not been described. A 46-year-old female patient presented with a history of episodic frontal headaches and episodes of nausea and dizziness, as well as gait instability progressing over 6 months prior to evaluation. Imaging revealed a well-circumscribed 3-cm extraaxial T1-weighted isointense and T2-weighted hyperintense contrast-enhancing mass centered in the region of the right lateral cerebellomedullary cistern. The patient underwent resection of the lesion. Although the intraoperative appearance was suggestive of a cavernous malformation, some histological findings were atypical, leading to the final diagnosis of vascular malformation, not otherwise specified. The patient's postoperative course was uneventful with complete resolution of symptoms. To the authors' knowledge, this is the first report of an AOVM involving the intracranial portion of the accessory nerve. For any AOVM located within the cerebellomedullary cistern or one suspected of involving a cranial nerve, the authors recommend including immunohistochemistry with primary antibody to neurofilament in the histopathology workup. PMID:26566204

  5. Intracranial vascular malformations: imaging of charged-particle radiosurgery. Part II. Complications

    SciTech Connect

    Marks, M.P.; Delapaz, R.L.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Levy, R.P.; Enzmann, D.R.

    1988-08-01

    Seven of 24 patients with intracranial vascular malformations who were treated with helium-ion Bragg-peak radiosurgery had complications of therapy. New symptoms and corresponding radiologic abnormalities developed 4-28 months after therapy. Five patients had similar patterns of white matter changes and mass effect on computed tomographic scans and magnetic resonance images. The abnormalities were centered in the radiation field. Gray matter changes and abnormal enhancement in the thalamus and hypothalamus outside the radiation field developed in one patient. This patient also had vasculopathic changes on angiograms. Rapidly progressive large vessel vasculopathy developed in another patient and caused occlusion of major vessels. Thus, different mechanisms may be involved in the complications of heavy-ion radiosurgery.

  6. Fluctuating nature of an orbital venous-lymphatic anomaly in association with intracranial vascular malformations: a classical presentation.

    PubMed

    Kanagalingam, Sivashakthi; Wyse, Emily; Merbs, Shannath L; Pearl, Monica Smith

    2015-01-01

    Venous-lymphatic anomalies (VLA) are rare and benign congenital lesions of the lymphatic system, composed of endothelial-lined lymphatic cysts. They are most frequently located in the region of the head and neck, and represent 4% of all orbital masses. In those patients with extensive orbital VLAs, a strong association with intracranial vascular anomalies has been reported. Factors known to suddenly increase the size of these lesions include upper respiratory tract infections or intralesional haemorrhage; however, complete spontaneous regression is rare. We report on the classic presentation of a patient with a fluctuating right orbital VLA in association with an intracranial cavernous malformation and intracranial developmental venous anomaly. PMID:26438679

  7. Pulmonary vascular malformations.

    PubMed

    Liechty, Kenneth W; Flake, Alan W

    2008-02-01

    Pulmonary vascular malformations have historically been diagnosed in a wide range of age groups, but the extensive use of prenatal imaging studies has resulted in the majority of lesions being diagnosed in utero. Among this group of lesions, bronchopulmonary sequestrations (BPS), hybrid lesions with both congenital cystic adenomatoid malformation (CCAM) and BPS, aberrant systemic vascular anastomoses, and pulmonary arteriovenous malformations (PAVM), are the most common. The biologic behavior of these lesions and the subsequent therapy is, in large part, determined by the age of the patient at diagnosis. In the fetus, large BPS or hybrid lesions can result in fetal hydrops and in utero fetal demise. In the perinatal period, pulmonary hypoplasia from the mass effect or air trapping within the cystic component of hybrid lesions can result in life-threatening respiratory distress. In the postnatal period, communication of the lesion with the aero-digestive system can result in recurrent pneumonia. Alternatively, increased pulmonary blood flow from the systemic arterial supply can result in hemorrhage, hemoptysis, or high output cardiac failure. In addition, there have been several reports of malignant degeneration. Finally, the broad spectrum encompassed by these lesions makes classification and subsequent communication of the lesions confusing and difficult. This paper will review the components of these lesions, their associated anomalies, the diagnosis and natural history, and finally, current concepts in the management of pulmonary vascular malformations. PMID:18158137

  8. Intracranial Vascular Treatments

    MedlinePlus

    ... most commonly used in the treatment of intracranial aneurysms. Mechanical retrievers/aspiration systems: used to remove clots ... passageway between an artery and a vein. intracranial aneurysms, a ballooning out of the wall of an ...

  9. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  10. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

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

    1999-03-01

    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. PMID:10321255

  11. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  12. 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.

  13. 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

  14. [Dynamic MRA in the evaluation of intracranial vascular diseases].

    PubMed

    Gauvrit, J Y; Oppenheim, C; Savage, J; Nataf, F; Reyns, N; Pruvo, J P; Meder, J F; Leclerc, X

    2005-01-01

    Conventional catheter angiography (CCA) remains the gold standard for the evaluation of most intracranial vascular malformations. MRA techniques such as Time of Flight, Phase Contrast or 3D contrast-enhanced MRA, provide anatomic evaluation but without hemodynamic information. Recently developed, dynamic MRA is based on dynamic acquisition of images and image subtraction; these two principal characteristics produce images comparable to those obtained by CCA. The purpose of this review is to explain the principles, advantages and drawbacks of this technique in the evaluation of arteriovenous malformations, arteriovenous fistulas, aneurysms and venous thrombosis. PMID:15798609

  15. 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.

  16. Stereotactic proton beam therapy for intracranial arteriovenous malformations

    SciTech Connect

    Vernimmen, Frederik J.A.I. . E-mail: fv@sun.ac.za; Slabbert, Jacobus P.; Wilson, Jennifer A.; Fredericks, Shaheeda

    2005-05-01

    Purpose: To investigate hypofractionated stereotactic proton therapy of predominantly large intracranial arteriovenous malformations (AVMs) by analyzing retrospectively the results from a cohort of patients. Methods and Materials: Since 1993, a total of 85 patients with vascular lesions have been treated. Of those, 64 patients fulfilled the criteria of having an arteriovenous malformation and sufficient follow-up. The AVMs were grouped by volume: <14 cc (26 patients) and {>=}14 cc (38 patients). Treatment was delivered with a fixed horizontal 200 MeV proton beam under stereotactic conditions, using a stereophotogrammetric positioning system. The majority of patients were hypofractionated (2 or 3 fractions), and the proton doses are presented as single-fraction equivalent cobalt Gray equivalent doses (SFEcGyE). The overall mean minimum target volume dose was 17.37 SFEcGyE, ranging from 10.38-22.05 SFEcGyE. Results: Analysis by volume group showed obliteration in 67% for volumes <14 cc and 43% for volumes {>=}14 cc. Grade IV acute complications were observed in 3% of patients. Transient delayed effects were seen in 15 patients (23%), becoming permanent in 3 patients. One patient also developed a cyst 8 years after therapy. Conclusions: Stereotactic proton beam therapy applied in a hypofractionated schedule allows for the safe treatment of large AVMs, with acceptable results. It is an alternative to other treatment strategies for large AVMs. AVMs are likely not static entities, but probably undergo vascular remodeling. Factors influencing angiogenesis could play a new role in a form of adjuvant therapy to improve on the radiosurgical results.

  17. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    PubMed

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  18. 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.

  19. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia.

    PubMed

    Dubey, Indu Bhushan; Sharma, Anuj; Singh, Ajay Kumar; Mohanty, Debajyoti

    2011-01-01

    A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia. PMID:21633582

  20. Systemic to pulmonary vascular malformation.

    PubMed

    Pouwels, H M; Janevski, B K; Penn, O C; Sie, H T; ten Velde, G P

    1992-11-01

    A case is reported of life-threatening haemoptysis as a result of an anomalous communication between a bronchial artery and pulmonary vein, demonstrated by angiography. The patient recovered following bilobectomy of the right lower and middle lobes. When a systemic artery is involved in an arteriovenous malformation of the lung, haemodynamics are different compared with those present in malformations fed by the pulmonary artery. This implicates other clinical features, options for surgical intervention and prognosis. In reviewing the literature, a relationship with Rendu-Osler-Weber disease is absent in these specific malformations. PMID:1486979

  1. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  2. 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.

  3. 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.

  4. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  5. Advanced noninvasive imaging of spinal vascular malformations

    PubMed Central

    Eddleman, Christopher S.; Jeong, Hyun; Cashen, Ty A.; Walker, Matthew; Bendok, Bernard R.; Batjer, H. Hunt; Carroll, Timothy J.

    2010-01-01

    Spinal vascular malformations (SVMs) are an uncommon, heterogeneous group of vascular anomalies that can render devastating neurological consequences if they are not diagnosed and treated in a timely fashion. Imaging SVMs has always presented a formidable challenge because their clinical and imaging presentations resemble those of neoplasms, demyelination diseases, and infection. Advancements in noninvasive imaging modalities (MR and CT angiography) have increased during the last decade and have improved the ability to accurately diagnose spinal vascular anomalies. In addition, intraoperative imaging techniques have been developed that aid in the intraoperative assessment before, during, and after resection of these lesions with minimal and/or optimal use of spinal digital subtraction angiography. In this report, the authors review recent advancements in the imaging of SVMs that will likely lead to more timely diagnoses and treatment while reducing procedural risk exposure to the patients who harbor these uncommon spinal lesions. PMID:19119895

  6. GI-Associated Hemangiomas and Vascular Malformations

    PubMed Central

    Yoo, Stephen

    2011-01-01

    Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

  7. Benign Vascular Malformation at the Ischial Tuberosity.

    PubMed

    Said, Rami; Bevelaqua, Anna-Christina

    2016-07-01

    A 31-year-old female student was referred to physical therapy with a chief complaint of proximal, posterior left thigh pain that began insidiously 12 months prior, and progressively worsened while training for a half-marathon. A mobile, soft mass was identified just inferior to the ischial tuberosity that was tender and painful to palpation, recreating the patient's chief complaint. Radiographic findings were negative for a suspected avulsion fracture at the ischial tuberosity. Therefore, the physician performed musculoskeletal ultrasonography, which revealed a superficial hypoechoic mass with vascular flow. Magnetic resonance imaging and a subsequent biopsy led to the diagnosis of a benign vascular malformation. J Orthop Sports Phys Ther 2016;46(7):607. doi:10.2519/jospt.2016.0410. PMID:27363574

  8. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  9. US and MRI features in venous vascular malformation of the abdominal wall. A case report

    PubMed Central

    Alessandrino, F.; Maira, A.; Tarantino, C.C.

    2012-01-01

    Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features. PMID:23450707

  10. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  11. 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.

  12. 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

  13. Stereotactic radiosurgery for intracranial arteriovenous malformations: A review.

    PubMed

    Moorthy, Ranjith K; Rajshekhar, Vedantam

    2015-01-01

    Stereotactic radiosurgery (SRS) has proven to be an effective strategy in the management of intracranial arteriovenous malformations (AVMs) in children and adults over the past three decades. Its application has resulted in lowering the morbidity and mortality associated with treatment of deep-seated AVMs. SRS has been used as a primary modality of therapy as well as in conjunction with embolization and microsurgery in the management of AVMs. The obliteration rate after SRS has been reported to range from 35% to 92%. Smaller AVMs receiving higher marginal doses have obliteration rates of 70% and more. The median follow-up reported in most series is approximately 36-40 months. The median time to obliteration has been reported to be approximately 24-36 months in most series. Radiation-induced neurological complications have been reported in less than 10% of patients, with a 1.5%-6% risk of developing a new permanent neurological deficit. The bleeding rate during the latency to obliteration has been reported to be approximately 5%. This review describes the experience reported in literature with respect to the indications, dosage, factors affecting obliteration rate of AVMs, and complications after SRS. PMID:26588616

  14. Klippel-Trénaunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation

    PubMed Central

    Sadiq, Mahniya F.; Tiwana, Muhammad H.; Johnson, Jamlik-Omari; Khosa, Faisal

    2014-01-01

    Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). PMID:24653849

  15. High Temporal and Spatial Resolution Imaging of Peripheral Vascular Malformations

    PubMed Central

    Mostardi, Petrice M.; Young, Phillip M.; McKusick, Michael A.; Riederer, Stephen J.

    2013-01-01

    Purpose To assess the performance of a recently developed 3D time-resolved CE-MRA technique, Cartesian Acquisition with Projection-Reconstruction-like sampling (CAPR), for accurate characterization and treatment planning of vascular malformations of the periphery. Materials and Methods Twelve patient studies were performed (eight female, four male; average age, 33 years). The protocol consisted of three-dimensional (3D) time-resolved CE-MRA followed by a single late phase T1-weighted acquisition. Vascular malformations were imaged in the forearm, hand, thigh, and foot. Imaging evaluation was performed for accurate characterization of lesion type, identification of feeding and draining vessels, involvement with surrounding tissue, overall quality for diagnosis and treatment planning, and correlation with conventional angiography. Results Time-resolved CE-MRA allowed for characterization of malformation flow and type. Feeding and draining vessels were identified in all cases. Overall quality for diagnosis and treatment planning was 3.58/4.0, and correlation with conventional angiography was scored as 3.89/4.0. Conclusion The CAPR time series has been shown to portray the temporal dynamics and structure of vascular malformations as well as the normal vasculature with high quality. CAPR time-resolved imaging is able to accurately characterize high and low flow lesions, allowing for pretreatment lesion assessment and treatment planning. Delayed imaging is important to capture complete filling of very slow flow vascular malformations. PMID:22674646

  16. [Cerebral arteriovenous malformations: value of the non invasive vascular imaging techniques].

    PubMed

    Leclerc, X; Gauvrit, J Y; Trystram, D; Reyns, N; Pruvo, J P; Meder, J F

    2004-12-01

    Imaging evaluation of cerebral arteriovenous malformations (AVM) requires selective visualization of the different compartments of the malformation in order to select the therapeutic management. Conventional angiography remains the reference to analyze intracranial vessel conspicuity but non-invasive methods constitute an excellent alternative. Among these techniques, CT angiography is rarely used because of the need to inject iodinated contrast material and because of irradiation. MR angiography provides useful information and can be performed using several techniques: time of flight with or without contrast material injection, phase contrast, three-dimensional (3D) gradient echo acquisition after contrast material injection and, more recently, MR digital subtraction angiography. The purpose of this review article is to summarize the different non-invasive techniques for vascular imaging and to analyze the usefulness of these techniques for the assessment of brain AVMs. PMID:15687950

  17. Vascular tumors and malformations in children, Introduction.

    PubMed

    Maguiness, Sheilagh M

    2016-03-01

    Over the past decade, I have been amazed at the growth in the field of vascular anomalies. The recognition of vascular birthmarks as a defined area of medicine is a relatively recent event. The International Society for the Study of Vascular Anomalies (ISSVA) was founded by Drs John Mulliken and Anthony Young in the late 1970s. Mulliken and Glowacki's sentinel 1982 paper on the biologic classification of vascular anomalies further established the field, by providing clarity of nomenclature and unifying concepts that had previously been lacking. PMID:27607317

  18. [Congenital vascular malformations: epidemiology, classification and therapeutic basis].

    PubMed

    Pereira Albino, J

    2010-01-01

    Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations. PMID:20972487

  19. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  20. Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.

    PubMed

    Anusic, Sandra; Clemens, Robert Karl Josef; Meier, Thomas Oleg; Amann-Vesti, Beatrice Ruth

    2016-01-01

    Misdiagnosis of phosphatase and tensin homologue hamartoma syndromes is common. Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented maculae on the foreskin and multiple skin lesions. MRI showed extended fibrofatty changes and malformed vessels in the forearm and calf lesions, also, arteriovenous shunting was present in these lesions. The patient had been treated by embolisation and surgically in the past, with limited results. A multidisciplinary assessment and genetic counselling were undertaken and a surveillance programme was initiated. Treatment options of the symptomatic vascular lesions include excision or possibly cryoablation. Physiotherapy to prevent progression of the contractures should be initiated meanwhile. PMID:27358095

  1. Assessing intracranial vascular compliance using dynamic arterial spin labeling.

    PubMed

    Yan, Lirong; Liu, Collin Y; Smith, Robert X; Jog, Mayank; Langham, Michael; Krasileva, Kate; Chen, Yufen; Ringman, John M; Wang, Danny J J

    2016-01-01

    Vascular compliance (VC) is an important marker for a number of cardiovascular diseases and dementia, which is typically assessed in the central and peripheral arteries indirectly by quantifying pulse wave velocity (PWV), and/or pulse pressure waveform. To date, very few methods are available for the quantification of intracranial VC. In the present study, a novel MRI technique for in-vivo assessment of intracranial VC was introduced, where dynamic arterial spin labeling (ASL) scans were synchronized with the systolic and diastolic phases of the cardiac cycle. VC is defined as the ratio of change in arterial cerebral blood volume (ΔCBV) and change in arterial pressure (ΔBP). Intracranial VC was assessed in different vascular components using the proposed dynamic ASL method. Our results show that VC mainly occurs in large arteries, and gradually decreases in small arteries and arterioles. The comparison of intracranial VC between young and elderly subjects shows that aging is accompanied by a reduction of intracranial VC, in good agreement with the literature. Furthermore, a positive association between intracranial VC and cerebral perfusion measured using pseudo-continuous ASL with 3D GRASE MRI was observed independent of aging effects, suggesting loss of VC is associated with a decline in perfusion. Finally, a significant positive correlation between intracranial and central (aortic arch) VC was observed using an ungated phase-contrast 1D projection PWV technique. The proposed dynamic ASL method offers a promising approach for assessing intracranial VC in a range of cardiovascular diseases and dementia. PMID:26364865

  2. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    PubMed

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  3. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  4. Thoracolumbar spinal vascular malformation as a rare cause of isolated intraventricular hemorrhage.

    PubMed

    Marlin, Evan S; Entwistle, John J; Arnold, Michael A; Pierson, Christopher R; Governale, Lance S

    2014-07-01

    Spinal vascular malformations are rare vascular lesions that most frequently present with back pain, radiculopathy, and/or myelopathy. Neurological decline is typically secondary to progressive radiculopathy, myelopathy, venous thrombosis, and stroke. Few case reports have described thoracolumbar spinal vascular malformations that present with both subarachnoid and intraventricular hemorrhage. This is the first reported case of a thoracolumbar spinal vascular malformation presenting with isolated intraventricular hemorrhage on initial imaging followed by acute and fatal rehemorrhage. PMID:24784978

  5. 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

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

    PubMed

    Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

    2015-09-01

    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

  7. Stereotactic microresection of small cerebral vascular malformations (SCVM).

    PubMed

    Lerch, K D; Schaefer, D; Palleske, H

    1994-01-01

    Between 1988-1993 we performed CT-stereotactic guided microsurgical resection as a one-session-procedure in 46 patients bearing small (< 30 mm) cerebral vascular malformations (SCVM). The location of the SCVM was deep subcortical in 38 patients, temporal medio- basal in 3 and brainstem in 5. The surgical technique intended to minimise invasiveness by reducing the operative approach to a size less than the diameter of the lesion concerned. The mean diameter of our SCVM's was 20 mm ranging from 10 to 30 mm. Histologically we found 23 arteriovenous malformations, 22 cavernous malformations and 1 capillary telangiectasia (capillary malformation). Clinical symptomatology consisted mainly of seizures, (progressive) neurological deficit and (minute) acute intracerebral bleeding. The SCVMs could be demonstrated by contrast-enhanced CT as well as by MRI. 15 of the AVM's revealed as angiographically occult. Complete microsurgical resection of the SCVM was accomplished in all cases with a surgical morbidity of 6.5% and no operative mortality. In 14 patients, most of them with initial acute intracerebral haemorrhage, the pronounced focal neurological deficit improved. During the follow-up period (1/2-5 years) no rebleeding occurred. As far as epileptic seizures were concerned 13 patients became seizure-free without anticonvulsants and 11 patients seizure-free with anticonvulsant, in the remaining 4 patients seizures were reduced in frequency. PMID:7725939

  8. 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.

  9. Treatment of a giant arteriovenous malformation associated with intracranial aneurysm rupture during pregnancy: A case report

    PubMed Central

    Chen, Junhui; Wang, Yuhai; Li, Peipei; Chen, Weiliang; Zhou, Jingxu; Hu, Xu; Zhu, Jie; Jiang, Bingjie

    2016-01-01

    Arteriovenous malformations (AVMs) associated with aneurysm have rarely been reported in the literature. The present study reports the case of a 21-year-old pregnant female patient who presented with a subarachnoid hemorrhage and an intracranial hematoma located in the anterior end of the corpus callosum. Furthermore, an anterior cerebral aneurysm and an AVM were identified by digital subtraction angiography and magnetic resonance angiography. The aneurysm was clipped and the AVM was successfully removed by microsurgery. The diagnosis of AVM associated with an aneurysm was confirmed via intraoperative and postoperative pathological examinations. By performing a review of the current literature, issues and surgical considerations associated with AVM associated with aneurysm were analyzed.

  10. Turner syndrome with spinal hemorrhage due to vascular malformation

    PubMed Central

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  11. 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.

  12. 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.

  13. Thrombosed vascular malformation within the flexor tendon sheath of the index finger in the palm

    PubMed Central

    Schonauer, Fabrizio; Nele, Gisella; La Rusca, Ivan

    2015-01-01

    Vascular malformations are relatively infrequent among benign lesions of the hand. We report the case of an arteriovenous malformation in a 48-year-old white woman presenting a mass in her left hand without any symptoms. The diagnosis was confirmed by histopathology and the lesion completely removed by surgery. PMID:27252973

  14. Intralesional bleomycin injection in management of low flow vascular malformations in children.

    PubMed

    Mohan, Anita T; Adams, Saleigh; Adams, Kevin; Hudson, Donald A

    2015-04-01

    Low flow vascular malformations are challenging to manage, particularly with their propensity to grow, and can lead to severe disfigurement and dysfunction. Traditional surgical excision is fraught with tedious dissection and complications, particularly in the head and neck region. Trends toward less invasive techniques, such as intralesional sclerotherapy, are proving to be successful independent treatments or adjuncts in management in low flow vascular malformations. This study was a retrospective case note review, over an 8-year period, reporting the outcomes of 32 children (mean = 5.8 years, range = 5 months-11.5 years) with radiologically confirmed low flow vascular malformations, treated with serial intralesional bleomycin injection (IBI) therapy. Patient demographics, lesion characteristics, imaging findings, treatment course, radiological and clinical response to treatment were recorded. An overall 91% (n = 29) response rate was achieved, with 28% obtaining complete resolution for low flow vascular malformations. Lesions were sub-categorized into venous malformation, including mixed venous-capillary (n = 27) or lymphatic malformation (LM) (n = 5). Twenty-seven of 32 children experienced no complications. Local complications included superficial skin infection (n = 2), skin necrosis (n = 1), hyperpigmentation, and minor contour deformity. There was no recurrence and no systemic side-effects to bleomycin. Mean follow-up was 38 months (range = 6-95 months). In conclusion, serial intralesional bleomycin injections can be effective and also safe in a paediatric population for the successful management of symptomatic or disfiguring low flow vascular malformations. PMID:25204206

  15. Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations

    PubMed Central

    Beslow, Lauren A.; Jordan, Lori C.

    2011-01-01

    Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes are variable and are related to the severity of presentation, associated illnesses, and other factors. More than half of children who have had a stroke have long-term neurological sequelae. Five-year recurrence risk is estimated to be 5–19%. Children with cerebrovascular abnormalities are at the highest risk of recurrence (66% at 5 years for ischemic stroke in one study). Furthermore, cerebral arteriopathy including arterial dissection may account for up to 80% of childhood stroke in otherwise healthy children. In many cases, evaluation and treatment of pediatric stroke is not evidence-based, and regional and geographic variations in practice patterns exist. Multicenter cohort studies and ultimately dedicated pediatric clinical trials will be essential to establish comprehensive evidence-based guidelines for pediatric stroke care. PMID:20625743

  16. Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

    PubMed Central

    Laureano, André; Carvalho, Rodrigo; Amaro, Cristina; Freitas, Isabel; Cardoso, Jorge

    2014-01-01

    Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type. PMID:25506441

  17. 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

  18. Structure and vascular function of MEKK3-cerebral cavernous malformations 2 complex.

    PubMed

    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

  19. 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.

  20. 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. PMID:2184409

  1. [Quality standards for ultrasonographic assessment of peripheral vascular malformations and vascular tumors. Report of the French Society for Vascular Medicine].

    PubMed

    Laroche, J-P; Becker, F; Khau-Van-Kien, A; Baudoin, P; Brisot, D; Buffler, A; Coupé, M; Jurus, C; Mestre, S; Miserey, G; Soulier-Sotto, V; Tissot, A; Viard, A; Vignes, S; Quéré, I

    2013-02-01

    THE QUALITY STANDARDS OF THE FRENCH SOCIETY OF VASCULAR MEDICINE FOR THE ULTRASONOGRAPHIC ASSESSMENT OF VASCULAR MALFORMATIONS ARE BASED ON THE TWO FOLLOWING REQUIREMENTS: Technical know-how: mastering the use of ultrasound devices and the method of examination. Medical know-how: ability to adapt the methods and scope of the examination to its clinical indication and purpose, and to rationally analyze and interpret its results. AIMS OF THE QUALITY STANDARDS: To describe an optimal method of examination in relation to the clinical question and hypothesis. To achieve consistent practice, methods, glossary, and reporting. To provide good practice reference points, and promote a high-quality process. ITEMS OF THE QUALITY STANDARDS: The three levels of examination; their clinical indications and goals. The reference standard examination (level 2), its variants according to clinical needs. The minimal content of the examination report; the letter to the referring physician (synthesis, conclusion and proposal for further investigation and/or therapeutic management). Commented glossary (anatomy, hemodynamics, semiology). Technical bases. Settings and use of ultrasound devices. Here, we discuss the methods of using ultrasonography for the assessment of peripheral vascular malformations and tumors. PMID:23312609

  2. 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

  3. Vascular malformations of the spinal cord (angiodysgenetic myelomalacia): a critique on its pathogenesis.

    PubMed

    Badejo, L; Sangalang, V E

    1979-02-01

    Two cases of angiodysgenetic myelomalacia are presented. Both patients had progressive weakness and sensory deficits in the lower extremities and vascular malformations of their spinal cords. The lesions were located on the dorsum of the spinal cord and the dorso-spinal roots. We believe the symptoms that developed later in life were due to spinal cord ischemia resulting from late degenerative changes in the vessels of the malformation and an ever increasing spinal "steal". PMID:424976

  4. 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.

  5. Intracranial arteriovenous malformation: relationships between clinical and radiographic factors and ipsilateral steal severity

    SciTech Connect

    Batjer, H.H.; Devous, M.D. Sr.; Seibert, G.B.; Purdy, P.D.; Ajmani, A.K.; Delarosa, M.; Bonte, F.J.

    1988-09-01

    Intracranial arteriovenous malformations (AVMs) are high flow shunts that may jeopardize the perfusion of adjacent tissue. Clinical and radiographic data from 62 patients were analyzed to determine their relationship to the severity of steal measured by single photon emission computed tomography (SPECT). The ipsilateral steal index (ISteal(i)) was determined by dividing regional cerebral blood flow (rCBF) values within hand-drawn regions of hypoperfusion in the ipsilateral hemisphere by total brain flow, which was calculated as the average rCBF of each hemisphere. Of the patients, 40% were less than 30 years of age, 45% were 30 to 50 years old, and 15% were over 50. Forty-eight per cent presented with hemorrhage and 34% presented with progressive deficits. There was angiographic steal in 37%, and postoperative hyperemic complications developed in 21%. All patients had ipsilateral regions of hypoperfusion. The ISteal(i) was less than 0.7 in 23 (37%), 0.7 to 0.8 in 20 (32%), and greater than 0.8 in 19 (31%). The ISteal(i) was significantly less severe in the patients over 50; 78% of these patients had an ISteal(i) of greater than 0.8 (P less than 0.01). A history of hemorrhage was associated with less severe steal than that in patients who had not bled (P = 0.088). Patients presenting with a history of progressive deficits had increased severity of steal compared with those without progressive deficits (P less than 0.05). A trend toward decreased severity of steal was noted in patients with unfavorable outcomes.

  6. 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.

  7. Venous vascular malformation of the floor of mouth masquerading as a dermoid tumor.

    PubMed

    Dmytriw, Adam A; Song, Jin Soo A; Gullane, Patrick; terBrugge, Karel G; Yu, Eugene

    2016-01-01

    Venous vascular malformations (VVMs) are described as abnormal post-capillary lesions which exhibit low flow. These are typically malleable and may grow with endocrine fluctuations. A VVM that mimics the classic appearance of dermoid tumor on imaging has never been reported. We encountered a 43-year-old woman with intermittent dysphagia relating to a firm submandibular mass. Physical exam and cross-sectional imaging revealed features consistent with variant dermoid cyst. However, catheter angiography eventually demonstrated a VVM which possessed vessels of variable size and partial thrombosis. We report the case and propose that catheter angiography remains important in cases where vascular malformation is considered. PMID:26851131

  8. 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

  9. 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

  10. 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

  11. Venolymphatic vascular malformation of the parotid gland extending into the parapharyngeal space: A rare presentation

    PubMed Central

    Khatib, Yasmeen; Dande, Madhura; Patel, Richa D; Gite, Vinod

    2016-01-01

    Vascular malformations (VMs) are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies. PMID:27601828

  12. Angiography of Hepatic Vascular Malformations Associated with Hereditary Hemorrhagic Telangiectasia

    SciTech Connect

    Hashimoto, Manabu Tate, Etuko; Nishii, Toshiaki; Watarai, Jiro; Shioya, Takanobu; White, Robert I.

    2003-04-15

    Purpose: To describe the angiographic features of hepatic involvement in hereditary hemorrhagictelangiectasia (HHT), particularly the presence of portovenous shunts. Methods: We reviewed the angiographic findings of seven patients with HHT. The patients comprised three women and four men with a mean age of 51 years. Results: Intrahepatictelangiectasias were found in all seven patients and shunts between three vascular channels were found in six of seven patients. In the four patients who had portovenous shunts combined with arterioportal shunts, the portovenous shunts were large. Three patients had noportovenous shunts. Two of these patients had arteriovenous shunts, and one had no shunt. The mean age (69 years) of the patients with portovenous shunts was older than those without portovenous shunts (26 years). Conclusions: Hepatic vascular lesions in HHT are varied, ranging from telangiectasias to large shunts between three vascular channels. In an advanced stage of involvement, large portovenous shunts are present.

  13. 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

  14. Neuropilin-2 and vascular endothelial growth factor receptor-3 are up-regulated in human vascular malformations.

    PubMed

    Partanen, Taina A; Vuola, Pia; Jauhiainen, Suvi; Lohi, Jouko; Salminen, Päivi; Pitkäranta, Anne; Häkkinen, Sanna-Kaisa; Honkonen, Krista; Alitalo, Kari; Ylä-Herttuala, Seppo

    2013-01-01

    Despite multiple previous studies in the field of vascular anomalies, the mechanism(s) leading to their development, progression and maintenance has remained unclear. In this study, we have characterized the expression levels of vascular endothelial growth factors and their receptors in 33 human vascular anomalies. Analysis with quantitative real-time PCR and gene-specific assays showed higher expression of neuropilin-2 (NRP2) and VEGF-receptor-3 (VEGFR-3) mRNAs in vascular malformations (VascM) as compared to infantile hemangiomas (Hem). In addition, the expression levels of PlGF and VEGF-C mRNA were significantly higher in venous VascM when compared to the other VascM and Hem. Higher expression of NRP2 and VEGFR-3 were confirmed by immunohistochemistry. To further study the importance of NRP2 and VEGFR-3, endothelial cell (EC) cultures were established from vascular anomalies. It was found that NRP2 and VEGFR-3 mRNA levels were significantly higher in some of the VascM ECs as compared to human umbilical vein ECs which were used as control cells in the study. Furthermore, adenoviral delivery of soluble decoy NRP2 prevented the proliferation of ECs isolated from most of the vascular anomalies. Our findings suggest that NRP2 functions as a factor maintaining the pathological vascular network in these anomalies. Thus, NRP2 could become a potential therapeutic target for the diagnosis and treatment of vascular anomalies. PMID:22961441

  15. [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. PMID:27164348

  16. 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%.

  17. [Biotinidase deficiency and vascular ring malformation: case report].

    PubMed

    González-Salazar, Francisco; Gabino Gerardo-Aviles, José; Rodríguez Jacobo, Sofía; Vargas-Camacho, Gerardo

    2014-10-01

    Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results. PMID:25192539

  18. 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.

  19. 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.

  20. Primary intra- and juxta-articular vascular malformations of the temporomandibular joint: a clinical analysis of 8 consecutive patients

    PubMed Central

    Zhou, Qin; Yang, Chi; Chen, Min-Jie; Qiu, Ya-Ting; Qiu, Wei-Liu; Zheng, Jia-Wei

    2015-01-01

    Objective: To analyze primary intra- and juxta-articular vascular malformations of the temporomandibular joint. Patients and methods: This study retrospectively reviewed eight patients (seven venous malformations and one lymphatico-venous malformation) who were treated for intra- or juxta-articular vascular malformations of the temporomandibular joint from November 2005 to January 2011. All patients underwent magnetic resonance imaging (MRI) preoperatively. Results: According to MRI findings, vascular malformations involving TMJ could be divided into 3 types; homogenous, lacunar and mixed types. All patients underwent surgical resection, and the final clinical diagnoses were confirmed by postoperative histopathology and immunohistochemical examinations. All treated patients had no clinical or radiographic signs of recurrence. Conclusion: Owing to the lower incidence and nonspecific clinical presentations, preoperative diagnosis of vascular malformations involving the TMJ region is very difficult. The classification based on MRI manifestations is proposed first, then it may greatly help in the initial diagnosis. Surgical resection is considered the first option for these TMJ lesions with excellent results. PMID:25932158

  1. The “Little AVM”: A New Entity in High-flow versus Low-flow Vascular Malformations

    PubMed Central

    Stein, Michael; Guilfoyle, Regan; Courtemanche, Douglas J.; Moss, Wendy; Bucevska, Marija

    2014-01-01

    Background: Arteriovenous malformations (AVMs) are high-flow lesions with abnormal connections between arteries and veins without an intervening capillary bed. Infrequently, the radiographic diagnosis of a vascular lesion will not support the clinical diagnosis of an AVM. These “discrepant” lesions are not adequately captured within the current classification system and represent a treatment dilemma. The purpose of this study is to review our center’s experience with vascular malformations where incongruity in a patient’s clinical and radiographic presentation produces a diagnostic and therapeutic challenge. Methods: A retrospective chart review of patients with atypical AVM pre sen ta tions was performed. Parameters reviewed included patient history and demogra phics, clinical presentation, radiological imaging, and treatment modalities. Results: Over a 15-year period, we identified 7 cases of vascular malformations with discrepant clinical and radiological findings concerning flow characteristics. All patients were treated based on their radiological diagnosis and most were managed with sclerotherapy. No lesions evolved into a high-flow process, and there was no recurrence at a minimum of 24 months of follow-up. Conclusions: We have identified and described a unique subcategory of vascular malformations that have clinical features of high-flow malformations but radiological features of low-flow malformations. These lesions behave like low-flow malformations and should be treated as such. We propose that complex vascular malformations are best evaluated by both clinical and specialized diagnostic radiological means; the radiologic diagnoses should supplant what is found clinically, and ultimately treatment should be preferentially based on a radiological diagnosis. PMID:25426370

  2. Georges Brohee Prize. Oestrogen-progesterone, a new therapy of bleeding gastrointestinal vascular malformations.

    PubMed

    Van Cutsem, E

    1993-01-01

    Gastrointestinal vascular malformations can cause haemorrhage requiring multiple transfusions. Surgical or endoscopic therapy are ineffective when the vascular malformations are spread diffusely over the gastrointestinal tract, when lesions escape identification or are not accessible for treatment. Several reports suggest that oestrogen-progesterone therapy is effective in the treatment of epistaxis in hereditary haemorrhagic telangiectasia. The aim of our studies is to test the hypothesis that oestrogen-progesterone is an effective treatment for bleeding gastrointestinal vascular malformations in patients with a very high transfusion need and in whom surgical or endoscopic treatment failed or could not be performed. The mean transfusion requirement prior to entering the studies amounted to 35.4 units packed per patient. In an uncontrolled trial oestrogen-progesterone therapy diminished significantly transfusion requirements from 3.4 units packed cells per patient per month to 0.1 units packed cells (p = 0.02). Haemorrhage ceased totally in 3 of 7 patients. A double-blind randomized placebo-controlled, cross-over trial shows that therapy with 0.050 mg ethinyloestradiol and 1 mg norethisterone is very effective in reducing transfusion requirements: 2.8 versus 11.2 units packed cells over a 6 month treatment period (p = 0.002). Only 3 of 13 patients treated with ethinyloestradiol and norethisterone required transfusions for persistent bleeding, while 12 of 13 patients in the placebo group had transfusion requirements (p = 0.001). After stopping hormonal therapy, no transfusions were needed for a mean of 10 months. This indicates a long-lasting effect of ethinyloestradiol and norethisterone on bleeding and transfusion requirements.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8342398

  3. Exogenous vascular endothelial growth factor induces malformed and hyperfused vessels during embryonic neovascularization.

    PubMed Central

    Drake, C J; Little, C D

    1995-01-01

    Vascular endothelial growth factor (VEGF) is a potent and specific endothelial mitogen that is able to induce angiogenesis in vivo [Leung, D. W., Cachianes, G., Kuang, W.-J., Goeddel, D. V. & Ferrara, N. (1989) Science 246 1306-1309]. To determine if VEGF also influences the behavior of primordial endothelial cells, we used an in vivo vascular assay based on the de novo formation of vessels. Japanese quail embryos injected with nanomolar quantities of the 165-residue form of VEGF at the onset of vasculogenesis exhibited profoundly altered vessel development. In fact, the overall patterning of the vascular network was abnormal in all VEGF-injected embryos. The malformations were attributable to two specific endothelial cell activities: (i) inappropriate neovascularization in normally avascular areas and (ii) the unregulated, excessive fusion of vessels. In the first instance, supernumerary vessels directly linked the inflow channel of the heart to the aortic outflow channel. The second aberrant activity led to the formation of vessels with abnormally large lumens. Ultimately, unregulated vessel fusion generated massive vascular sacs that obliterated the identity of individual vessels. These observations show that exogenous VEGF has an impact on the behavior of primordial endothelial cells engaged in vasculogenesis, and they strongly suggest that endogenous VEGF is important in vascular patterning and regulation of vessel size (lumen formation). Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 PMID:7543999

  4. Stereotactic radiosurgery of angiographically occult vascular malformations: Indications and preliminary experience

    SciTech Connect

    Kondziolka, D.; Lunsford, L.D.; Coffey, R.J.; Bissonette, D.J.; Flickinger, J.C. )

    1990-12-01

    Stereotactic radiosurgery has been shown to treat successfully angiographically demonstrated arteriovenous malformations of the brain. Angiographic obliteration has represented cure and eliminated the risk of future hemorrhage. The role of radiosurgery in the treatment of angiographically occult vascular malformations (AOVMs) has been less well defined. In the initial 32 months of operation of the 201-source cobalt-60 gamma knife at the University of Pittsburgh, 24 patients meeting strict criteria for high-risk AOVMs were treated. Radiosurgery was used conservatively; each patient had sustained two or more hemorrhages and had a magnetic resonance imaging-defined AOVM located in a region of the brain where microsurgical removal was judged to pose an excessive risk. Venous angiomas were excluded by performance of high-resolution subtraction angiography in each patient. Fifteen malformations were in the medulla, pons, and/or mesencephalon, and 5 were located in the thalamus or basal ganglia. Follow-up ranged from 4 to 24 months. Nineteen patients either improved or remained clinically stable and did not hemorrhage again during the follow-up interval. One patient suffered another hemorrhage 7 months after radiosurgery. Five patients experienced temporary worsening of pre-existing neurological deficits that suggested delayed radiation injury. Magnetic resonance imaging demonstrated signal changes and edema surrounding the radiosurgical target. Dose-volume guidelines for avoiding complications were constructed. Our initial experience indicates that stereotactic radiosurgery can be performed safely in patients with small, well-circumscribed AOVMs located in deep, critical, or relatively inaccessible cerebral locations.

  5. Major and minor arterial malformations in patients with cutaneous vascular abnormalities.

    PubMed

    Pascual-Castroviejo, Ignacio; Pascual-Pascual, Samuel I; Viaño, Juan; López-Gutierrez, Juan C; Palencia, Rafael

    2010-05-01

    The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery. Thirteen patients showed absence or hypoplasia of 1 carotid artery and 10 of 1 vertebral artery; 10 showed persistence of the trigeminal artery; 3 had persistent proatlantal artery; 6 showed the absence of the posterior communicating artery; and 4 had hypoplastic posterior cerebral artery. Other less frequent abnormalities were found in 7 patients. Intellectual level of most patients was either borderline or below normal. Abnormalities in the vascularization and perfusion of the frontal lobes may contribute to the borderline or lower mental level of these patients. PMID:19808986

  6. 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.

  7. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.

    PubMed

    Cetinkaya, Arda; Xiong, Jingwei Rachel; Vargel, İbrahim; Kösemehmetoğlu, Kemal; Canter, Halil İbrahim; Gerdan, Ömer Faruk; Longo, Nicola; Alzahrani, Ahmad; Camps, Mireia Perez; Taskiran, Ekim Zihni; Laupheimer, Simone; Botto, Lorenzo D; Paramalingam, Eeswari; Gormez, Zeliha; Uz, Elif; Yuksel, Bayram; Ruacan, Şevket; Sağıroğlu, Mahmut Şamil; Takahashi, Tokiharu; Reversade, Bruno; Akarsu, Nurten Ayse

    2016-08-01

    Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families. Individuals with VMOS suffer from life-threatening progressive expansion of the jaw, craniofacial, and other intramembranous bones caused by malformed blood vessels that lack a mature vascular smooth muscle layer. Analysis of primary fibroblasts from an affected individual showed that absence of ELMO2 correlated with a significant downregulation of binding partner DOCK1, resulting in deficient RAC1-dependent cell migration. Unexpectedly, elmo2-knockout zebrafish appeared phenotypically normal, suggesting that there might be human-specific ELMO2 requirements in bone vasculature homeostasis or genetic compensation by related genes. Comparative phylogenetic analysis indicated that elmo2 originated upon the appearance of intramembranous bones and the jaw in ancestral vertebrates, implying that elmo2 might have been involved in the evolution of these novel traits. The present findings highlight the necessity of ELMO2 for maintaining vascular integrity, specifically in intramembranous bones. PMID:27476657

  8. Cerebral vascular malformations: Time-resolved CT angiography compared to DSA

    PubMed Central

    Lum, Cheemun; Chakraborty, Santanu; dos Santos, Marlise P

    2015-01-01

    Purpose The purpose of this article is to prospectively test the hypothesis that time-resolved CT angiography (TRCTA) on a Toshiba 320-slice CT scanner enables the same characterization of cerebral vascular malformation (CVM) including arteriovenous malformation (AVM), dural arteriovenous fistula (DAVF), pial arteriovenous fistula (PAVF) and developmental venous anomaly (DVA) compared to digital subtraction angiography (DSA). Materials and methods Eighteen (eight males, 10 females) consecutive patients (11 AVM, four DAVF, one PAVF, and two DVA) underwent 19 TRCTA (Aquillion one, Toshiba) for suspected CVM diagnosed on routine CT or MRI. One patient with a dural AVF underwent TRCTA and DSA twice before and after treatment. Of the 18 patients, 13 were followed with DSA (Artis, Siemens) within two months of TRCTA. Twenty-three sequential volume acquisitions of the whole head were acquired after injection of 50 ml contrast at the rate of 4 ml/sec. Two patients with DVA did not undergo DSA. Two TRCTA were not assessed because of technical problems. TRCTAs were independently reviewed by two neuroradiologists and DSA by two other neuroradiologists and graded according to the Spetzler-Martin classification, Borden classification, overall diagnostic quality, and level of confidence. Weighted kappa coefficients (k) were calculated to compare reader’s assessment of DSA vs TRCTA. Results There was excellent (k = 0.83 and 1) to good (k = 0.56, 0.61, 0.65 and 0.67) agreement between the different possible pairs of neuroradiologists for the assessment of vascular malformations. Conclusion TRCTA may be a sufficient noninvasive substitute for conventional DSA in certain clinical situations. PMID:26246101

  9. Co-occurrence of a cerebral cavernous malformation and an orbital cavernous hemangioma in a patient with seizures and visual symptoms: Rare crossroads for vascular malformations

    PubMed Central

    Choudhri, Omar; Feroze, Abdullah H.; Lad, Eleonora M.; Kim, Jonathan W.; Plowey, Edward D.; Karamchandani, Jason R.; Chang, Steven D.

    2014-01-01

    Background: Cerebral cavernous malformations (CCMs) are angiographically occult vascular malformations of the central nervous system. As a result of hemorrhage and mass effect, patients may present with focal neurologic deficits, seizures, and other symptoms necessitating treatment. Once symptomatic, most often from hemorrhage, CCMs are treated with microsurgical resection. Orbital cavernous hemangiomas (OCHs) are similar but distinct vascular malformations that present within the orbital cavity. Even though CCMs and OCHs are both marked by dilated endothelial-lined vascular channels, they are infrequently seen in the same patient. Case Description: We provide a brief overview of the two related pathologies in the context of a patient presenting to our care with concomitant lesions, which were both resected in full without complication. Conclusion: This is the first known report that describes a case of concomitant CCM and OCH and explores the origins of two pathologies that are rarely encountered together in neurosurgical practice. Recognition of disparate symptomatologies is important for properly managing these patients. PMID:25071938

  10. 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.

  11. Intracranial capillary hemangioma mimicking a dissociative disorder

    PubMed Central

    John, Santosh G.; Pillai, Unnikrishnan; Lacasse, Alexander

    2012-01-01

    Capillary hemangiomas, hamartomatous proliferation of vascular endothelial cells, are rare in the central nervous system (CNS). Intracranial capillary hemangiomas presenting with reversible behavioral abnormalities and focal neurological deficits have rarely been reported. We report a case of CNS capillary hemangioma presenting with transient focal neurological deficits and behavioral abnormalities mimicking Ganser's syndrome. Patient underwent total excision of the vascular malformation, resulting in complete resolution of his symptoms. PMID:24765434

  12. Unique remodeling processes after vascular injury in intracranial arteries: analysis using a novel mouse model.

    PubMed

    Shimamura, Munehisa; Nakagami, Hironori; Sata, Masataka; Takaoka, Minoru; Azuma, Junya; Kiomy Osako, Mariana; Koriyama, Hiroshi; Kurinami, Hitomi; Wakayama, Kouji; Miyake, Takashi; Morishita, Ryuichi

    2013-08-01

    The effectiveness of angioplasty and stenting in intracranial atherosclerotic diseases is controversial due to high rates of delayed restenosis and hemorrhage compared with extracranial arteries. However, the mechanisms underlying these differences are still unclear, because their pathophysiology is yet to be examined. To address this issue, we established a novel vascular injury model in the intracranial internal carotid arteries (IICAs) in mice, and analyzed the remodeling process in comparison to that of the femoral arteries (FAs). In IICAs, neointimal hyperplasia was observed from day 14 and grew until day 56. Although smooth muscle cells (SMCs) emerged in the neointima from day 28, SMCs in the injured media were continuously lost with eventual extinction of the media. Re-endothelialization was started from day 7 and completed on day 28. Accumulation of macrophages was continued in the adventitia until day 56. Compared with FAs, the following points are unique in IICAs: (1) delayed continuous formation of neointima; (2) accumulation of macrophages in the media on day 14; (3) continuous loss of SMCs in the media followed by extinction of the media itself; and (4) continuously growing adventitia. These pathophysiologic differences might be associated with unfavorable outcomes in percutaneous transluminal angioplasty and stenting in intracranial arteries. PMID:23571280

  13. Biological distinctions between juvenile nasopharyngeal angiofibroma and vascular malformation: an immunohistochemical study.

    PubMed

    Zhang, Mengjun; Sun, Xicai; Yu, Huapeng; Hu, Li; Wang, Dehui

    2011-10-01

    The exact nature of juvenile nasopharyngeal angiofibroma (JNA) is still in dispute. In recent years, the main controversy of its nature has focused on hemangioma and vascular malformation. In this study, the immunolocalization of vascular endothelial growth factor (VEGF), VEGF receptor-1/fms-like tyrosine kinase-1 (VEGFR-1/Flt-1), VEGF receptor-2/fetal liver kinase-1 (VEGFR-2/Flk-1), proliferating cell nuclear antigen (PCNA), and CD34 was investigated in 28 cases of JNA and 20 cases of orbital cavernous hemangiomas (OCH). The immunostaining levels of VEGF, Flt-1, and Flk-1 were higher and more frequent in vascular endothelial cells of JNA than those of OCH (p<0.05). The average microvessel density (MVD) marked by CD34 in JNA was (49.3 ± 9.1)/HPF (high power field), which was higher than OCH (29.1 ± 6.7)/HPF (p<0.05). Immunoreactivity of PCNA was localized in both endothelial and stromal cell components of JNA, but was predominantly seen in the stromal cells. However, no PCNA immunoreactivity was identified in any of the stromal and endothelial cells in cases of OCH. The immunostaining levels of CD34, VEGF, Flt-1, Flk-1, and PCNA in JNA were higher than those in OCH. These data support the view that JNA has biological characteristics of an angiogenic histogenetic tumor. In the future, anti-angiogenic therapy may represent a novel treatment strategy for JNA. PMID:20688360

  14. 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. PMID:27080431

  15. 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

  16. Vascular endothelial growth factor A protein level and gene expression in intracranial meningiomas with brain edema.

    PubMed

    Nassehi, Damoun; Dyrbye, Henrik; Andresen, Morten; Thomsen, Carsten; Juhler, Marianne; Laursen, Henning; Broholm, Helle

    2011-12-01

    Meningiomas are the second most common primary intracranial tumors in adults. Although meningiomas are mostly benign, more than 50% of patients with meningioma develop peritumoral brain edema (PTBE), which may be fatal because of increased intracranial pressure. Vascular endothelial growth factor (VEGF) is an endothelial cell-specific mitogen and angiogen. VEGF-A protein, which is identical to vascular permeability factor, is a regulator of angiogenesis. In this study, 101 patients with meningiomas, and possible co-factors to PTBE, such as meningioma subtypes and tumor location, were examined. Forty-three patients had primary, solitary, supratentorial meningiomas with PTBE. In these, correlations in PTBE, edema index, VEGF-A protein, VEGF gene expression, capillary length, and tumor water content were investigated. DNA-branched hybridization was used for measuring VEGF gene expression in tissue homogenates prepared from frozen tissue samples. The method for VEGF-A analysis resembled an ELISA assay, but was based on chemiluminescence. The edema index was positively correlated to VEGF-A protein (p = 0.014) and VEGF gene expression (p < 0.05). The capillary length in the meningiomas was positively correlated to the PTBE (p = 0.038). If VEGF is responsible for the formation of PTBE, the edema may be treated with the anti-VEGF drug Bevacizumab (Avastin), which has been shown to reduce PTBE in patients with glioblastoma multiforme. PMID:22085359

  17. Peripheral limb vascular malformations: an update of appropriate imaging and treatment options of a challenging condition

    PubMed Central

    Farrant, J; Chhaya, N; Anwar, I; Marmery, H; Platts, A; Holloway, B

    2015-01-01

    Peripheral vascular malformations encompass a wide spectrum of lesions that can present as an incidental finding or produce potentially life- or limb-threatening complications. They can have intra-articular and intraosseous extensions that will result in more diverse symptomology and present greater therapeutic challenges. Developments in classification, imaging and interventional techniques have helped to improve outcome. The onus is now placed on appropriate detailed preliminary imaging, diagnosis and classification to direct management and exclude other more common mimics. Radiologists are thus playing an increasingly important role in the multidisciplinary teams charged with the care of these patients. By fully understanding the imaging characteristics and image-guided procedures available, radiologists will be armed with the tools to meet these responsibilities. This review highlights the recent advances made in imaging and the options available in interventional therapy. PMID:25525685

  18. 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.

  19. The role of vascular remodeling and inflammation in the pathogenesis of intracranial aneurysms.

    PubMed

    Penn, David L; Witte, Samantha R; Komotar, Ricardo J; Sander Connolly, E

    2014-01-01

    While the mechanisms triggering pathogenesis of intracranial aneurysms have not been fully elucidated, different mechanisms have been proposed ranging from hemodynamic mechanisms to genetic predispositions. One mechanism that has been thoroughly explored is the physiological and pathological vascular remodeling that occurs in conjunction with inflammatory reactions resulting in the initiation and progression of these lesions. Both hemodynamic stimuli and vascular inflammation can trigger a series of biochemical reactions resulting in vascular smooth muscle cell apoptosis and migration causing thinned, dilated areas of the cerebral vasculature. In addition, an imbalance between extracellular matrix remodeling proteins, such as matrix metalloproteinases and their inhibitors, can result in accelerated degradation of the internal elastic lamina and the adventitial layers, further weakening the vessel. While these processes occur under normal physiological conditions, situations that alter their balance such as inflammation caused by cigarette smoking or cocaine usage or hypoxia induced under chronic hypertensive conditions can alter the delicate balance of these reactions potentiating pathological remodeling and aneurysm development. The present study represents a thorough literature review of the vascular remodeling and inflammatory components to aneurysmal pathogenesis. PMID:24120708

  20. 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. PMID:11469062

  1. Hemangiomas, angiosarcomas, and vascular malformations represent the signaling abnormalities of pathogenic angiogenesis.

    PubMed

    Arbiser, J L; Bonner, M Y; Berrios, R L

    2009-11-01

    Angiogenesis is a major factor in the development of benign, inflammatory, and malignant processes of the skin. Endothelial cells are the effector cells of angiogenesis, and understanding their response to growth factors and inhibitors is critical to understanding the pathogenesis and treatment of skin disease. Hemangiomas, benign tumors of endothelial cells, represent the most common tumor of childhood. In our previous studies, we have found that tumor vasculature in human solid tumors expresses similarities in signaling to that of hemangiomas, making the knowledge of signaling in hemangiomas widely applicable. These similarities include expression of reactive oxygen, NFkB and akt in tumor vasculature. Furthermore, we have studied malignant vascular tumors, including hemangioendothelioma and angiosarcoma and have shown distinct signaling abnormalities in these tumors. The incidence of these tumors is expected to rise due to environmental insults, such as radiation and lumpectomy for breast cancer, dietary and industrial carcinogens (hepatic angiosarcoma), and chronic ultraviolet exposure and potential Agent Orange exposure. I hypothesize that hemangiomas, angiosarcomas, and vascular malformations represent the extremes of signaling abnormalities seen in pathogenic angiogenesis. PMID:19925405

  2. Persistence of pulmonary arteriovenous malformations after successful embolotherapy with Amplatzer vascular plug: long-term results

    PubMed Central

    Abdel-Aal, Ahmed Kamel; Ibrahim, Rafik Mohamed; Moustafa, Amr Soliman; Hamed, Maysoon Farouk; Saddekni, Souheil

    2016-01-01

    PURPOSE We aimed to evaluate the frequency of persistence and complication rates of pulmonary arteriovenous malformations (PAVMs) treated with Amplatzer vascular plug (AVP) or Amplatzer vascular plug type 2 (AVP2). METHODS We retrospectively reviewed a total of 22 patients with 54 PAVMs between June 2004 and June 2014. We included 12 patients with 35 PAVMs who received percutaneous embolization using AVP or AVP2 only without the use of any other embolic devices. The mean follow-up was 54±24.3 months (range, 31–97 months). The primary end-points of the study were the efficacy of embolotherapy, the increase in oxygen saturation, and the persistence of PAVM on follow-up. Secondary end point was the incidence of complications. RESULTS The study included 10 female and two male patients with a mean age of 50.2±13.7 years (range, 21–66 years). All PAVMs had a simple angioarchitecture. The technical success of the procedure for PAVM occlusion was 100%. There was a significant increase in the oxygen saturation following embolotherapy (P < 0.0001). Follow-up computed tomography angiography revealed successful treatment in 34 PAVMs (97%) and failed treatment in one PAVM (3%). Twenty-three aneurysmal sacs (67%) showed complete disappearance. The failed treatment was due to persistence of PAVM caused by subsequent development of systemic reperfusion, which did not require further intervention. There were two minor complications but no major complications were encountered. CONCLUSION Embolotherapy of PAVMs using AVP or AVP2 devices is safe and effective, with high technical success rate, low persistence and complication rates, and with excellent long-term results. PMID:27244759

  3. Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

    PubMed

    Valente, Marcelo; Valente, Kette D; Sugayama, Sofia S M; Kim, Chong Ae

    2004-01-01

    Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes. PMID:15569759

  4. Walter E. Dandy's contributions to vascular neurosurgery.

    PubMed

    Kretzer, Ryan M; Coon, Alexander L; Tamargo, Rafael J

    2010-06-01

    Although Walter E. Dandy (1886-1946) is appropriately credited with the first surgical clipping of an intracranial aneurysm in 1937--a procedure that established the modern field of vascular neurosurgery--his numerous other contributions to this specialty are not as well known. Dandy can be credited with the first detailed description of the vein of Galen malformation, the first description of x-ray visualization of an intracranial aneurysm, the first characterization of basilar artery dolichoectasia, and the publication of the first comprehensive operative case series of arteriovenous malformations, cavernous malformations, and developmental venous anomalies. In addition, Dandy performed the first surgical trapping of a cavernous internal carotid artery (ICA) aneurysm by clipping the supraclinoid ICA and ligating the cervical ICA, and he also executed the first intracranial surgical clipping of the ICA to treat a carotid-cavernous fistula. In this article the authors describe Dandy's contributions to the field of vascular neurosurgery. PMID:20515365

  5. HIF-1α and HIF-2α induced angiogenesis in gastrointestinal vascular malformation and reversed by thalidomide.

    PubMed

    Feng, Nan; Chen, Haiying; Fu, Sengwang; Bian, Zhaolian; Lin, Xiaolu; Yang, Li; Gao, Yunjie; Fang, Jingyuan; Ge, Zhizheng

    2016-01-01

    Thalidomide is used in clinical practice to treat gastrointestinal vascular malformation (GIVM), but the pathogenesis of GIVM is not clear. Hypoxia inducible factor 1 alpha (HIF-1α) and 2 alpha (HIF-2α/EPAS1) are in the same family and act as master regulators of the adaptive response to hypoxia. HIF-1α and HIF-2α are up-regulated in vascular malformations in intestinal tissues from GIVM patients, but not in adjacent normal vessels. Therefore, we investigated the role of HIF-1α and HIF-2α during angiogenesis and the mechanism of thalidomide action. In vitro experiments confirmed that vascular endothelial growth factor (VEGF) was a direct target of HIF-2α and that HIF-1α and HIF-2α regulated NOTCH1, Ang2, and DLL4, which enhanced vessel-forming of endothelial cells. Thalidomide down-regulated the expression of HIF-1α and HIF-2α and inhibited angiogenesis. In vivo zebrafish experiments suggested that HIF-2α overexpression was associated with abnormal subintestinal vascular (SIV) sprouting, which was reversed by thalidomide. This result indicated that thalidomide regulated angiogenesis via the inhibition of HIF-1α and HIF-2α expression, which further regulated downstream factors, including VEGF, NOTCH1, DLL4, and Ang2. The abnormally high expression of HIF-1α and HIF-2α may contribute to GIVM. PMID:27249651

  6. HIF-1α and HIF-2α induced angiogenesis in gastrointestinal vascular malformation and reversed by thalidomide

    PubMed Central

    Feng, Nan; Chen, Haiying; Fu, Sengwang; Bian, Zhaolian; Lin, Xiaolu; Yang, Li; Gao, Yunjie; Fang, Jingyuan; Ge, Zhizheng

    2016-01-01

    Thalidomide is used in clinical practice to treat gastrointestinal vascular malformation (GIVM), but the pathogenesis of GIVM is not clear. Hypoxia inducible factor 1 alpha (HIF-1α) and 2 alpha (HIF-2α/EPAS1) are in the same family and act as master regulators of the adaptive response to hypoxia. HIF-1α and HIF-2α are up-regulated in vascular malformations in intestinal tissues from GIVM patients, but not in adjacent normal vessels. Therefore, we investigated the role of HIF-1α and HIF-2α during angiogenesis and the mechanism of thalidomide action. In vitro experiments confirmed that vascular endothelial growth factor (VEGF) was a direct target of HIF-2α and that HIF-1α and HIF-2α regulated NOTCH1, Ang2, and DLL4, which enhanced vessel-forming of endothelial cells. Thalidomide down-regulated the expression of HIF-1α and HIF-2α and inhibited angiogenesis. In vivo zebrafish experiments suggested that HIF-2α overexpression was associated with abnormal subintestinal vascular (SIV) sprouting, which was reversed by thalidomide. This result indicated that thalidomide regulated angiogenesis via the inhibition of HIF-1α and HIF-2α expression, which further regulated downstream factors, including VEGF, NOTCH1, DLL4, and Ang2. The abnormally high expression of HIF-1α and HIF-2α may contribute to GIVM. PMID:27249651

  7. Intraoral venous malformation with phleboliths

    PubMed Central

    Mohan, Ravi Prakash S.; Dhillon, Manu; Gill, Navneet

    2011-01-01

    The most common type of vascular malformation is the venous malformation and these are occasionally associated with phleboliths. We report a case of a 45 year old woman with intraoral venous malformation with phleboliths. PMID:24151422

  8. Mathematical modeling of selective photothermolysis to aid the treatment of vascular malformations and hemangioma with pulsed dye laser.

    PubMed

    Shafirstein, Gal; Buckmiller, Lisa M; Waner, Milton; Bäumler, Wolfgang

    2007-06-01

    Pulsed dye lasers (PDL) are the standard of care in the treatment of cutaneous vascular disorders such as the port-wine strains or hemangiomas of infancy. Nonetheless, there is still uncertainty regarding the specific laser parameters that are likely to yield optimal clinical outcomes. Using mathematical modeling, we explain and associate clinical outcomes with laser wavelength, radiant exposure, and pulse time and shape. The model's prediction that a continuous PDL pulse of 0.45 ms with a radiant exposure of 6 J/cm(2) is equivalent to delivering a 1.5-ms pulse consisting of three pulses with a radiant exposure of 12 J/cm(2) is in agreement with clinical studies. The model also suggests that for vascular malformations involving vessel diameters in the range of 150-500 microm, one should use a PDL at a wavelength of 595 nm with a radiant exposure of at least 12 J/cm(2) and pulse time of 1.5 ms, delivered in three pulses. Whereas it is calculated that malformations with vessels smaller than 50 microm will not respond to PDL in any clinical setting, an excellent response to PDL treatment at either a 585- or 595-nm wavelength can be expected for malformations with vessel diameters of 50-150 microm. Epidermal cooling is highly recommended for all settings to minimize pain and the risk of side effects. Finally, the model is used to generate a reference table that suggests specific PDL parameters for the treatment of various malformations and hemangiomas. The table cannot replace a clinician's experience with respect to which and how parameters should be changed, but provides a defined window of parameters that should be tried to improve clinical response. PMID:17268765

  9. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

    PubMed Central

    Luks, Valerie L.; Kamitaki, Nolan; Vivero, Matthew P.; Uller, Wibke; Rab, Rashed; Bovée, Judith V.M.G.; Rialon, Kristy L.; Guevara, Carlos J.; Alomari, Ahmad I.; Greene, Arin K.; Fishman, Steven J.; Kozakewich, Harry P.W.; Maclellan, Reid A.; Mulliken, John B.; Rahbar, Reza; Spencer, Samantha A.; Trenor, Cameron C.; Upton, Joseph; Zurakowski, David; Perkins, Jonathan A.; Kirsh, Andrew; Bennett, James T; Dobyns, William B; Kurek, Kyle C.; Warman, Matthew L.; McCarroll, Steven A.; Murillo, Rudy

    2015-01-01

    Objectives To test the hypothesis that somatic PIK3CA mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design We used next generation sequencing, droplet digital PCR (ddPCR), and single molecule molecular inversion probes (smMIPs) to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children’s Hospital who had an isolated LM (n=17), KTS (n=21), fibro-adipose vascular anomaly (FAVA; n=8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (CLOVES; n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n=31) from Seattle Children’s Hospital. Results Most individuals from Boston Children’s Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), FAVA (4/8), and CLOVES (30/32) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ~ 80% of cases. Seventy-four percent of patients with LM from Seattle Children’s Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions Somatic PIK3CA mutations are the most common cause of isolated lymphatic malformations and disorders in which lymphatic malformation is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism, because the abundance of mutant cells in a malformed tissue can be low. PMID:25681199

  10. Evaluation of Non-contrast Dynamic MRA in Intracranial Arteriovenous Malformation (AVM): Comparison with time of flight (TOF) and digital subtraction angiography (DSA)

    PubMed Central

    Yu, Songlin; Yan, Lirong; Yao, Yuqiang; Wang, Shuo; Yang, Mingqi; Wang, Bo; Zhuo, Yan; Zhao, Jizong; Wang, Danny J. J.

    2014-01-01

    Purpose Digital subtraction angiography (DSA) remains the gold standard to diagnose intracranial arteriovenous malformations (AVMs) but is invasive. Existing magnetic resonance angiography (MRA) is suboptimal for assessing the hemodynamics of AVMs. The objective of this study was to evaluate the clinical utility of a novel noncontrast four-dimensional (4D) dynamic MRA (dMRA) in the evaluation of intracranial AVMs through comparison with DSA and time-of-flight (TOF) MRA. Materials and methods Nineteen patients (12 women, mean age 26.2±10.7 years) with intracranial AVMs were examined with 4D dMRA, TOF and DSA. Spetzler–Martin grading scale was evaluated using each of the above three methods independently by two raters. Diagnostic confidence scores for three components of AVMs (feeding artery, nidus and draining vein) were also rated. Kendall's coefficient of concordance was calculated to evaluate the reliability between two raters within each modality (dMRA, TOF, TOF plus dMRA). The Wilcoxon signed-rank test was applied to compare the diagnostic confidence scores between each pair of the three modalities Results dMRA was able to detect 16 out of 19 AVMs, and the ratings of AVM size and location matched those of DSA. The diagnostic confidence scores by dMRA were adequate for nidus (3.5/5), moderate for feeding arteries (2.5/5) and poor for draining veins (1.5/5). The hemodynamic information provided by dMRA improved diagnostic confidence scores by TOF MRA. Conclusion As a completely noninvasive method, 4D dMRA offers hemodynamic information with a temporal resolution of 50–100 ms for the evaluation of AVMs and can complement existing methods such as DSA and TOF MRA. PMID:22521994

  11. Vascular Lesions.

    PubMed

    Jahnke, Marla N

    2016-08-01

    Vascular lesions in childhood are comprised of vascular tumors and vascular malformations. Vascular tumors encompass neoplasms of the vascular system, of which infantile hemangiomas (IHs) are the most common. Vascular malformations, on the other hand, consist of lesions due to anomalous development of the vascular system, including the capillary, venous, arterial, and lymphatic systems. Capillary malformations represent the most frequent type of vascular malformation. IHs and vascular malformations tend to follow relatively predictable growth patterns in that IHs grow then involute during early childhood, whereas vascular malformations tend to exhibit little change. Both vascular tumors and vascular malformations can demonstrate a wide range of severity and potential associated complications necessitating specialist intervention when appropriate. Evaluation and treatment of the most common types of vascular lesions are discussed in this article. [Pediatr Ann. 2016;45(8):e299-e305.]. PMID:27517358

  12. Current Status of the Application of Intracranial Venous Sinus Stenting

    PubMed Central

    Xu, Kan; Yu, Tiecheng; Yuan, Yongjie; Yu, Jinlu

    2015-01-01

    The intracranial venous sinus is an important component of vascular disease. Many diseases involve the venous sinus and are accompanied by venous sinus stenosis (VSS), which leads to increased venous pressure and high intracranial pressure. Recent research has focused on stenting as a treatment for VSS related to these diseases. However, a systematic understanding of venous sinus stenting (VS-Stenting) is lacking. Herein, the literature on idiopathic intracranial hypertension (IIH), venous pulsatile tinnitus, sinus thrombosis, high draining venous pressure in dural arteriovenous fistula (AVF) and arteriovenous malformation (AVM), and tumor-caused VSS was reviewed and analyzed to summarize experiences with VS-Stenting as a treatment. The literature review showed that satisfactory therapeutic effects can be achieved through stent angioplasty. Thus, the present study suggests that selective stent release in the venous sinus can effectively treat these diseases and provide new possibilities for treating intracranial vascular disease. PMID:26516306

  13. R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malformations.

    PubMed

    Kurek, Kyle C; Pansuriya, Twinkal C; van Ruler, Maayke A J H; van den Akker, Brendy; Luks, Valerie L; Verbeke, Sofie L J; Kozakewich, Harry P; Sciot, Raf; Lev, Dina; Lazar, Alexander J; Fletcher, Christopher D M; Bovée, Judith V M G

    2013-05-01

    Spindle cell hemangioma (SCH) is a rare, benign vascular tumor of the dermis and subcutis. The lesions can be multifocal and are overrepresented in Maffucci syndrome, in which patients also have multiple enchondromas. Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci syndrome. We evaluated the presence of mutations in solitary and multiple SCHs in patients without multiple enchondromas and tested a range of other vascular lesions that enter into the differential diagnosis. The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. None of 154 other vascular malformations and tumors harbored an IDH1 R132C mutation, and R132H IDH1 mutations were absent in all 182 cases. All 16 SCHs examined by immunohistochemistry were negative for expression of HIF-1α. In conclusion, 20 of 28 (71%) SCHs harbored mutations in exon 4 of IDH1 or IDH2. Given that mutations were absent in 154 other vascular lesions, the mutation seems to be highly specific for SCH. The mutation does not induce expression of HIF-1α in SCH, and therefore the exact mechanism by which mutations in IDH1 or IDH2 lead to vascular tumorigenesis remains to be established. PMID:23485734

  14. Comparing monomodality treatments of low-grade intracranial arteriovenous malformation at Hospital Kuala Lumpur between 2008 and 2011: A retrospective study

    PubMed Central

    bin Rosli, Fadzlishah Johanabas; Mohammed Haspani, Mohammed Saffari; Izaini Ab Ghani, Abdul Rahman

    2016-01-01

    Introduction: Intracranial arteriovenous malformations (AVMs) of Spetzler-Martin grades (SMGs) I-III are treated using either monomodality treatments of microsurgical excision, embolization or stereotactic radiosurgery (SRS), or a combination of two or more of these treatment options. At Hospital Kuala Lumpur, we still practice monomodality treatments for AVMs of these three grades. In this study, we wanted to achieve an understanding whether monomodality treatments can achieve a satisfactory outcome of AVM nidi for patients, for up to 3 years, and to gather an objective data for AVM treatment for the Malaysian population. Subjects and Methods: This is a retrospective review of records study. The data are acquired from case notes of patients with intracranial AVM of SMGs I to III who underwent monomodality treatment at Hospital Kuala Lumpur between 2008 and 2011. The patients were followed up with imaging for up to 3 years from the date of treatment. A total of 81 patients were recruited in this study, where 30 underwent microsurgical treatment, 27 underwent embolization, and 24 underwent SRS. Results: Total obliteration of AVM nidus was achieved in 96.7% of patients who underwent microsurgery, 8.7% of patients who underwent embolization, and 79.2% of patients who underwent SRS. The modified Rankin scale (mRS) for all three groups showed an improving trend, with the microsurgery group showing the best improvement (from 70% at 3 months to 92.3% at 3 years showing favorable mRS scores). Conclusions: The AVM nidus obliteration for each treatment group is comparable to the meta-analysis published in 2011. Each modality had its own set of complications; however, most of the patients in all three groups had either static or improved mRS at the end of the 3-year follow-up. PMID:26889274

  15. Arteriovenous malformation of nose-revision surgery.

    PubMed

    Srinivas, C V; Kailash, N; Kailas, Gayattre; Divya Jyothi, N

    2012-12-01

    Areteriovenous malformations are rare in the head and neck region and generally arise from intracranial vessels. We present one rare case with spontaneous arteriovenous malformations related to the nose. PMID:24294582

  16. Vascular Steal Syndrome, Optic Neuropathy, and Foreign Body Granuloma Reaction to Onyx-18 Embolization for Congenital Orbito-Facial Vascular Malformation.

    PubMed

    Liu, Catherine Y; Yonkers, Marc A; Liu, Tiffany S; Minckler, Don S; Tao, Jeremiah P

    2016-04-01

    A 34-year-old patient presented with a right orbito-facial mass since childhood, consistent with a congenital arteriovenous (AV) malformation. Prior to presentation, she had multiple incomplete surgical resections and embolizations with N-butyl acetyl acrylate and Onyx-18. The patient reported gradual, progressive vision loss shortly after Onyx-18 embolization. Five months after embolization, she presented with decreased vision, disfigurement and mechanical ptosis relating to a large subcutaneous mass affecting the medial right upper eyelid and forehead. Significant exam findings included a visual acuity of 20/400 (20/60 prior to embolization), an afferent pupillary defect, and optic disc pallor. MRI and angiography revealed a persistent AV malformation with feeders from the ophthalmic artery and an absent choroidal flush to the right eye. Pathology from surgical resection showed a significant foreign body giant cell reaction to the embolization material adjacent to the vessels. We suggest that an incomplete embolization with Onyx-18 may have caused vascular steal syndrome from the ophthalmic artery. PMID:27239463

  17. Vascular Steal Syndrome, Optic Neuropathy, and Foreign Body Granuloma Reaction to Onyx-18 Embolization for Congenital Orbito-Facial Vascular Malformation

    PubMed Central

    Liu, Catherine Y.; Yonkers, Marc A.; Liu, Tiffany S.; Minckler, Don S.; Tao, Jeremiah P.

    2016-01-01

    A 34-year-old patient presented with a right orbito-facial mass since childhood, consistent with a congenital arteriovenous (AV) malformation. Prior to presentation, she had multiple incomplete surgical resections and embolizations with N-butyl acetyl acrylate and Onyx-18. The patient reported gradual, progressive vision loss shortly after Onyx-18 embolization. Five months after embolization, she presented with decreased vision, disfigurement and mechanical ptosis relating to a large subcutaneous mass affecting the medial right upper eyelid and forehead. Significant exam findings included a visual acuity of 20/400 (20/60 prior to embolization), an afferent pupillary defect, and optic disc pallor. MRI and angiography revealed a persistent AV malformation with feeders from the ophthalmic artery and an absent choroidal flush to the right eye. Pathology from surgical resection showed a significant foreign body giant cell reaction to the embolization material adjacent to the vessels. We suggest that an incomplete embolization with Onyx-18 may have caused vascular steal syndrome from the ophthalmic artery. PMID:27239463

  18. Parry-Romberg syndrome with multiple intracranial cysts: A rare case report.

    PubMed

    Gupta, Rakesh; Patil, Harshad

    2016-01-01

    Parry-Romberg syndrome (PRS) is a rare, poorly understood degenerative condition characterized by atrophic changes affecting one side of the face. The cause of these changes remains obscure. Migraine and facial pain such as trigeminal neuralgia are the most common neurological symptoms in this patient group. Sometimes, it causes epilepsy and rarely cerebral hemiatrophy, meningeal thickening, cortical dysgenesis, calcified lesions, aneurysms, and intracranial vascular malformations. Herein, the author reports the first case of PRS with multiple large intracranial cysts producing raised intracranial pressure. PMID:27606027

  19. Parry–Romberg syndrome with multiple intracranial cysts: A rare case report

    PubMed Central

    Gupta, Rakesh; Patil, Harshad

    2016-01-01

    Parry–Romberg syndrome (PRS) is a rare, poorly understood degenerative condition characterized by atrophic changes affecting one side of the face. The cause of these changes remains obscure. Migraine and facial pain such as trigeminal neuralgia are the most common neurological symptoms in this patient group. Sometimes, it causes epilepsy and rarely cerebral hemiatrophy, meningeal thickening, cortical dysgenesis, calcified lesions, aneurysms, and intracranial vascular malformations. Herein, the author reports the first case of PRS with multiple large intracranial cysts producing raised intracranial pressure. PMID:27606027

  20. 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

  1. 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

  2. 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

  3. 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.

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

    PubMed Central

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

    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 Å crystal structure of CCM3. This structure shows an all α-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. PMID:20489202

  5. Surgical management of cavernous malformation of the optic nerve with canalicular extension

    PubMed Central

    Gonçalves, Vítor M.; Gonçalves, Victor

    2014-01-01

    Background: Cavernous malformations arising in a single optic nerves paring the chiasm (intracranial prechiasmatic optic nerve) and expanding into the optic canal are extremely rare lesions. Published series or case reports regarding the surgical removal of these vascular malformations within this specific location are scarce. Case Description: We present the first case to be published, of an intracranial optic nerve cavernous malformation with a contiguous canalicular component that was totally and successfully removed through a microsurgical pterional approach with excellent clinical outcome. Conclusion: This pathology should always be considered in the differential diagnosis of optic neuropathy and visual loss. Early detection and surgical proposal are mandatory, warranting the prevention of permanent damage to visual pathways. Radical resection is challenging, but usually curative and associated with favorable visual outcomes. PMID:25422788

  6. 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

  7. 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. PMID:27035547

  8. 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.

  9. Spontaneous thrombosis of a vein of galen malformation.

    PubMed

    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

  10. 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

  11. Long term results of treatment of vascular malformations of the gastrointestinal tract by neodymium Yag laser photocoagulation.

    PubMed Central

    Rutgeerts, P; Van Gompel, F; Geboes, K; Vantrappen, G; Broeckaert, L; Coremans, G

    1985-01-01

    The effect of Yag laser photocoagulation on the course of bleeding of gastrointestinal vascular malformations was studied in 59 patients, with a total of 482 lesions. The lesions were located in the upper gastrointestinal tract alone in 25 patients, in the lower tract alone in 31 patients and in both the lower and the upper gastrointestinal tract in three patients. In the month before laser therapy the number of bleeding episodes averaged 1.09 +/- 0.6 (SD) per patient (n = 57) and the transfusion requirements 2.4 +/- 2.6 red blood cells units per patient, while in the month after treatment the bleeding incidence averaged 0.16 +/- 0.5 and the transfusion requirements 0.21 +/- 0.8 (both p less than 0.001). Long term results were analysed considering for each patient an equally long pretreatment and follow up period. After a mean follow up period of 11.5 months (1-48 months), 17 of the 57 patients available for follow up rebled. The reduction of the bleeding rate was statistically significant at one, six, 12, and 18 months of follow up, while transfusion rate was significantly decreased at one, six, and 12 months. The results were disappointing in patients with Osler-Weber-Rendu (n = 4) and in patients with angiomas associated with Von Willebrand's disease (n = 3), who all rebled. In angiodysplasia the treatment was successful in 82% of the 49 patients. The more numerous the lesions, the less effective the reduction in bleeding rate by laser treatment was. Histological studies showed that the haemostatic effect of Yag laser photocoagulation was obtained by destruction of the lesion. Rebleeding was due to lesions missed at the first treatment, incompletely treated lesions and recurrence of new lesions. In two patients a free caecal perforation necessitated a right hemicolectomy. In both patients numerous or very large lesions had been treated in the caecum. Images Fig. 3 PMID:3874122

  12. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

    PubMed Central

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

    2012-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  13. 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

  14. Early experience with X-ray magnetic resonance fusion for low-flow vascular malformations in the pediatric interventional radiology suite.

    PubMed

    Hwang, Tiffany J; Girard, Erin; Shellikeri, Sphoorti; Setser, Randolph; Vossough, Arastoo; Ho-Fung, Victor; Cahill, Anne Marie

    2016-03-01

    This technical innovation describes our experience using an X-ray magnetic resonance fusion (XMRF) software program to overlay 3-D MR images on real-time fluoroscopic images during sclerotherapy procedures for vascular malformations at a large pediatric institution. Five cases have been selected to illustrate the application and various clinical utilities of XMRF during sclerotherapy procedures as well as the technical limitations of this technique. The cases demonstrate how to use XMRF in the interventional suite to derive additional information to improve therapeutic confidence with regards to the extent of lesion filling and to guide clinical management in terms of intraprocedural interventional measures. PMID:26681438

  15. Congenital Vascular Malformation

    MedlinePlus

    ... types. The more primitive ones appear as thinwalled lakes in which venous blood collects and when they ... collection of grape-like clusters of these venous lakes. This type usually does not affect the venous ...

  16. Embolization biomaterial reinforced with nanotechnology for an in-situ release of anti-angiogenic agent in the treatment of hyper-vascularized tumors and arteriovenous malformations.

    PubMed

    Jubeli, E; Yagoubi, N; Pascale, F; Bédouet, L; Slimani, K; Labarre, D; Saint-Maurice, J P; Laurent, A; Moine, L

    2015-10-01

    A polymer based material was developed to act as an embolic agent and drug reservoir for the treatment of arteriovenous malformations (AVM) and hyper vascularized solid tumors. The aim was to combine the blocking of blood supply to the target region and the inhibition of the embolization-stimulated angiogenesis. The material is composed of an ethanolic solution of a linear acrylate based copolymer and acrylate calibrated microparticles containing nanospheres loaded with sunitinib, an anti-angiogenic agent. The precipitation of the linear copolymer in aqueous environment after injection through microcatheter results in the formation of an in-situ embolization gel whereas the microparticles serve to increase the cohesive properties of the embolization agent and to form a reservoir from which the sunitinib-loaded nanospheres are released post-embolization. The swollen state of the microparticles in contact with aqueous medium results in the release of the nanospheres out of microparticles macromolecular structure. After the synthesis, the formulation and the characterization of the different components of the material, anti-angiogenic activity was evaluated in vitro using endothelial cells and in vivo using corneal neovascularization model in rabbit. The efficiency of the arterial embolization was tested in vivo in a sheep model. Results proved the feasibility of this new system for vascular embolization in association with an in situ delivery of anti-angiogenic drug. This combination is a promising strategy for the management of arteriovenous malformations and solid tumors. PMID:26386355

  17. Acquired vascular malformation in ruptured caesarean section scar: a rare cause of life-threatening vaginal bleeding

    PubMed Central

    Hilal, Kiran; Masroor, Imrana; Aziz, Aliya; Sayani, Raza

    2013-01-01

    Uterine arteriovenous malformations (AVM) are rare and potentially life-threatening lesions. Patients present with severe vaginal bleeding which usually does not respond to conservative management and on most of occasions requires radiological or surgical intervention. We report a case of acquired AVM in a ruptured caesarean section scar. The patient presented with life-threatening vaginal bleeding and was treated with gonadotropin releasing hormone agonist and subsequent angioembolisation coiling. PMID:23839607

  18. The Dural AV-Fistula (DAVF), the Most Frequent Acquired Vascular Malformation of the Central Nervous System (CNS).

    PubMed

    Wanke, I; Rüfenacht, D A

    2015-10-01

    Acquired arteriovenous malformations, such as is the case with dural arteriovenous fistulae (DAVF), are the consequence of a pathological new arterial ingrowth into venous spaces that reaches directly the venous lumen, without interposition of a capillary network, thereby creating an AV-shunt.The following concise text will provide elements in regards to diagnosis, indication for treatment discussion and choice of endovascular treatment (EVT) method. PMID:26308245

  19. 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.

  20. Multiple Intracranial Arteriovenous Fistulas in Cowden Syndrome.

    PubMed

    Prats-Sánchez, Luis A; Hervás-García, Jose V; Becerra, Juan L; Lozano, Manuel; Castaño, Carlos; Munuera, Josep; Escudero, Domingo; García-Esperón, Carlos

    2016-06-01

    Cowden syndrome is a rare autosomal dominant disease. It is characterized by multiple noncancerous tumorlike growths called hamartomas, which typically are found in the skin, oral mucosa, thyroid, breast, and gastrointestinal tract. It carries with it a potential risk of malignant transformation, especially of the breast and thyroid. In 80% of the cases, the human tumor suppressor gene, phosphatase and tensin homolog (PTEN), is mutated in the germ line. We report a patient with Cowden syndrome who presented with generalized seizure and left anterior temporal hemorrhage and a nontraumatic subarachnoid hemorrhage due to multiple intracranial arteriovenous fistulas (AVFs). We discuss previous reports about vascular malformations in patients with Cowden syndrome and PTEN mutations. Importantly, we hypothesize that the production of multiple AVFs in our patient was associated with PTEN mutation. PMID:27105569

  1. Developmental venous anomalies and cavernous angiomas: a review of the concurrence, imaging, and treatment of these vascular malformations.

    PubMed

    Beall, Douglas P; Bell, Jayson P; Webb, James R; Fish, Jon R

    2005-11-01

    Deep venous anomalies and cavernous angiomas are two distinct intracranial lesions. Although these lesions can be found in association with each other, they have different pathologic characteristics and developmental mechanisms. These lesions can produce a variety of clinical symptoms or in some cases can be asymptomatic. The management of these anomalies can include conservative measures in some cases and aggressive intervention in others. Several imaging modalities can be used to evaluate these distinct lesions and often more than one are needed for a prompt and reliable diagnosis. Because of the tendency of these lesions to occur simultaneously, thorough evaluation of these anomalies and their surrounding tissues is critical in their clinical management. In this review, the characteristics and radiographic evaluation of these lesions will be presented and the therapeutic options for these anomalies will be discussed. PMID:16379482

  2. Vascular malformation with phleboliths involving the parotid gland: A case report with a review of the literature.

    PubMed

    Ho, Caleb; Judson, Benjamin L; Prasad, Manju L

    2015-01-01

    Phleboliths within the parotid gland are exceedingly rare. We report a case of a venous malformation with multiple phleboliths that involved the left parotid gland and extended into the extraparotid tissue in a 43-year-old woman. We also review 13 similar cases that have been reported since 1948, and we highlight the significance of distinguishing phleboliths from sialoliths because management of the two can be entirely different. Phleboliths in and around the salivary glands primarily affect the parotid and submandibular glands in adult women. Patients can present with recurrent, intermittent swelling that may be associated with food intake and hyposalivation. Any sialolithiasis located outside of its most common location in the submandibular glands must be investigated thoroughly before surgery. PMID:26535823

  3. Galenic arteriovenous malformation with precocious puberty.

    PubMed

    Ventureyra, E C; Badejo, A

    1984-01-01

    Pineal lesions may appear with precocious puberty. In this report, a patient with precocious puberty and macrogenitosomia caused by an arteriovenous malformation in the pineal region is presented. This vascular malformation was not visualized during investigations 3 years before the present series. It appears that the vascular malformation increased considerably in size within a 3-year period. This case suggests that some arteriovenous malformations may take a malignant course, increasing rapidly in size and behaving like tumors by causing destruction and compression of surrounding structures. This case seems to be unique because, to the best of our knowledge, an arteriovenous malformation associated with precocious puberty has never been described previously. PMID:6689808

  4. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  5. 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

  6. Genetic basis for vascular anomalies.

    PubMed

    Kirkorian, A Yasmine; Grossberg, Anna L; Püttgen, Katherine B

    2016-03-01

    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. PMID:27607321

  7. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  8. Intracranial atherosclerosis following radiotherapy

    SciTech Connect

    Werner, M.H.; Burger, P.C.; Heinz, E.R.; Friedman, A.H.; Halperin, E.C.; Schold, S.C. Jr.

    1988-07-01

    We describe a case of severe intracranial atherosclerosis in a young man who had received therapeutic radiation for a presumed brain neoplasm. Since there was no evidence of vascular disease outside the radiation ports, we speculate that accelerated atherosclerosis was induced by radiation and that hyperlipidemia may have predisposed him to this effect.

  9. 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. PMID:21990534

  10. Sonographic Diagnosis of Fetal Adrenal Hemorrhage Complicating a Vein of Galen Aneurysmal Malformation

    PubMed Central

    Kütük, Mehmet Serdar; Doğanay, Selim; Özdemir, Ahmet; Görkem, Süreyya Burcu; Öztürk, Adnan

    2016-01-01

    Background: The vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which causes end-organ ischemia or venous congestion due to heart failure. Adrenal hemorrhage associated with VGAM has not been reported in the literature. We present the imaging findings of a fetal VGAM with adrenal hemorrhage. Case Report: A 26 year-old primigravida woman whose fetus with VGAM and mild cardiomegaly was scanned in the 34th week. On fetal ultrasound, a hyperechoic, well-circumscribed mass in the left suprarenal region was shown. Fetal and postnatal magnetic resonance imaging confirmed the diagnosis of adrenal hemorrhage. The baby died after delivery. Conclusion: Adrenal hemorrhage can complicate VGAM in fetuses with severe heart failure. Evaluation of the adrenal gland in affected cases may contribute to the prenatal counseling, and postnatal management. PMID:26966627

  11. Intracranial haemorrhage in pregnancy

    PubMed Central

    Fairhall, Jacob M; Stoodley, Marcus A

    2009-01-01

    Intracranial haemorrhage (ICH) is a rare, yet potentially devastating event in pregnancy. There is a risk of maternal mortality or morbidity and a significant risk to the unborn child. The risk of haemorrhage increases during the third trimester and is greatest during parturition and the puerperium. ICH can be extradural, subdural, subarachnoid or intraparenchymal. Causes of bleeding include trauma, arteriovenous malformations, aneurysms, preeclampsia/eclampsia and venous thrombosis. Urgent neurosurgical conditions generally outweigh obstetric considerations in management decisions, although anaesthetic and surgical modifications can be made to minimize adverse effects to the fetus.

  12. Closed-Cell Stent-Assisted Coiling of Intracranial Aneurysms: Evaluation of Changes in Vascular Geometry Using Digital Subtraction Angiography

    PubMed Central

    Beller, Ebba; Klopp, David; Göttler, Jens; Kaesmacher, Johannes; Zimmer, Claus; Kirschke, Jan S.; Prothmann, Sascha

    2016-01-01

    Background Stent-assisted coil embolization (SACE) plays an important role in the treatment of intracranial aneurysms. The purpose of this study was to investigate geometrical changes caused by closed-cell design stents in bifurcation and sidewall aneurysms. Methods 31 patients with 34 aneurysms underwent SACE with closed-cell design stents. Inflow angle α, determined by aneurysm neck and afferent vessel, and angle between afferent and efferent vessel close to (δ1), respectively, more remote from the aneurysm neck (δ2) were graphically determined in 2D angiography projections. Results Stent assisted coiling resulted in a significant increase of all three angles from a mean value (±SEM) of α = 119° (±6.5°) pretreatment to 130° (±6.6°) posttreatment (P ≤ .001), δ1 = 129° (±6.4°) to 139° (±6.1°), (P ≤ .001) and δ2 = 115° (±8.4°) to 126° (±7.5°), (P ≤ .01). Angular change of δ1 in AcomA aneurysms was significant greater compared to sidewall aneurysms (26°±4.9° versus 8°± 2.3°, P ≤ .05). The initial angle of δ1 and δ2 revealed a significantly inverse relationship to the angle increase (δ1: r = -0.41, P ≤ .05 and δ2: r = -0.47, P ≤ .01). Moreover, angle δ1 was significantly higher in unruptured compared to ruptured aneurysms (135°±7.1° versus 103°±10.8°, P ≤ .05). Conclusion Stent deployment modulates the geometry of the aneurysm-vessel complex, which may lead to favorable hemodynamic changes more similar to unruptured than to ruptured aneurysms. Our findings also suggest that the more acute-angled aneurysm-vessel anatomy, the larger the angular change. Further studies are needed to investigate whether these changes improve the clinical outcome. PMID:27073908

  13. Chiari Malformation

    MedlinePlus

    Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too ...

  14. Arteriovenous Malformation

    MedlinePlus

    ... to the formation of brain AVMs. NIH Patient Recruitment for Arteriovenous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, ...

  15. 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, ...

  16. Intraneural Venous Malformations of the Median Nerve

    PubMed Central

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation. PMID:27462571

  17. Chiari Malformation

    MedlinePlus

    ... Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & ... spine that can lead to nerve damage or paralysis. Chiari malformations also can happen after brain or spinal surgery. Doctors haven't identified a ...

  18. 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.

  19. 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

  20. 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

  1. Neurocysticercosis, familial cerebral cavernomas and intracranial calcifications: differential diagnosis for adequate management.

    PubMed

    Gasparetto, Emerson Leandro; Alves-Leon, Soniza; Domingues, Flavio Sampaio; Frossard, João Thiago; Lopes, Selva Paraguassu; Souza, Jorge Marcondes de

    2016-06-01

    Neurocysticercosis (NCC) is an endemic disease and important public health problem in some areas of the World and epilepsy is the most common neurological manifestation. Multiple intracranial lesions, commonly calcified, are seen on cranial computed tomography (CT) in the chronic phase of the disease and considered one of the diagnostic criteria of the diagnosis. Magnetic resonance imaging (MRI) is the test that better depicts the different stages of the intracranial cysts but does not show clearly calcified lesions. Cerebral cavernous malformations (CCM), also known as cerebral cavernomas, are frequent vascular malformations of the brain, better demonstrated by MRI and have also epilepsy as the main form of clinical presentation. When occurring in the familial form, cerebral cavernomas typically present with multiple lesions throughout the brain and, very often, with foci of calcifications in the lesions when submitted to the CT imaging. In the countries, and geographic areas, where NCC is established as an endemic health problem and neuroimaging screening is done by CT scan, it will be important to consider the differential diagnosis between the two diseases due to the differences in adequate management. PMID:27332076

  2. 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

  3. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  4. Intracranial germinoma

    PubMed Central

    Reddy, Manoj P.; Doughty, Kyle E.; Armstrong, Danielle; Melguizo-Gavilanes, Isaac; Cheek, Brennen S.; Opatowsky, Michael J.

    2015-01-01

    Pineal region tumors make up less than 1% of all intracranial neoplasms, with the majority being of germ cell origin. We describe the diagnostic evaluation and treatment of a patient presenting with neurological deficits who was found to have a germinoma of the pineal gland. PMID:25552796

  5. Distal access using hyperflexible atraumatic distal tip with optimized proximal stability of the Benchmark intracranial guide catheter for the treatment of cerebral vascular diseases: a technical note

    PubMed Central

    Chandran, Arun; Puthuran, Mani; Eldridge, Paul R; Nahser, Hans C

    2016-01-01

    Background A stable guide catheter position within the intracranial vasculature is critical for safe, successful endovascular treatment. Objective To present ourinitial experience with the 0.071 inch inner diameter Benchmark guide catheter used in the treatment of intracranial cerebrovascular pathologies, demonstrating its safety and efficacy. Methods We retrospectively reviewed use of the Benchmark guide catheter from September through December 2014 in the management of various neuroendovascular intracranial pathologies. Clinical performance and complication rates were evaluated, with particular consideration of vessel tortuosity. A total of 62 Benchmarks were used, 47 in the anterior circulation, 10 in the posterior circulation, 4 in the external carotid, and 1 in the venous sinus. The five cases with access to the external carotid and venous sinus were excluded. Results The Benchmark was able to cross at least one 90° turn in 49 (86%) of the 57 patients. Reversal of the catheter was seen in 15% of 47 anterior circulation cases (4 at one 90° turn; 3 at two 90° turns). We report no complications of dissection or thromboembolic events. All guide catheter positions were safely achieved over a 0.035 Terumo stiff glidewire without need for an inner smaller lumen guide catheter for navigation. Conclusions Benchmark is a new guide catheter, with an ideal combination of both hyperflexible, atraumatic distal tip and optimized proximal shaft support to provide stable 6F primary access for a successful neurointerventional procedure. Benchmark can be easily, safely, and consistently positioned in a desired location within intracranial arteries providing a stable position for intervention and adequate angiography. PMID:26071386

  6. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth

  7. Vascular Tumors

    PubMed Central

    Sepulveda, Abel; Buchanan, Edward P.

    2014-01-01

    Vascular anomalies are divided into two main groups: tumors and malformations. Vascular tumors are a large and complex group of lesions, especially for clinicians with none or little experience in this field. In the past, these lesions caused a great deal of confusion because many appear analogous to the naked eye. Thankfully, recent advances in diagnostic techniques have helped the medical community to enhance our comprehension, accurately label, diagnose, and treat these lesions. In this article, we will review the most frequent vascular tumors and provide the reader with the tools to properly label, diagnose, and manage these complex lesions. PMID:25045329

  8. Management of hemangiomas and other vascular tumors.

    PubMed

    Greene, Arin K

    2011-01-01

    Vascular tumors of childhood are typically benign. The 4 most common types are infantile hemangioma (IH), congenital hemangioma (CH), kaposiform hemangioendothelioma (KHE), and pyogenic granuloma (PG). Vascular tumors must be differentiated from vascular malformations. Although tumors and malformations may appear as raised, blue, red, or purple lesions, their management differs significantly. PMID:21095471

  9. Endovascular treatment of intracranial aneurysms.

    PubMed

    Diaz, Orlando; Rangel-Castilla, Leonardo

    2016-01-01

    Intracranial aneurysms are abnormal dilations of the intracranial vessels, in which all the layers of the vascular wall are affected by degenerative changes that lead to distension of the vessel. Intracranial aneurysms can be classified based on their anatomic location, size, and morphology. Subarachnoid hemorrhage is the most devastating clinical presentation. The goal of preventing hemorrhage or rehemorrhage can only be achieved by excluding the aneurysm from the cerebral circulation. Endovascular or surgical clipping can achieve this goal. Multiple surgical and endovascular approaches have been described for treatment of intracranial aneurysm. Surgical approaches for anterior-circulation intracranial aneurysms include: pterional, orbitozygomatic, and lateral supraorbital craniotomies. Modern microsurgical techniques involve skull base dissection to achieve adequate exposure with minimal brain retraction. Endovascular techniques can be divided into: parent artery reconstruction with coil deposition (primary coil, balloon-assisted coiling, stent-assisted coiling, and other new techniques such as neck reconstruction devices and intraluminal occlusion devices); reconstruction with flow diversion; and deconstructive techniques with involving parent artery sacrifice with or without bypass. PMID:27430470

  10. 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. PMID:26808679

  11. Fusiform aneurysm of a persistent trigeminal artery associated with rare intracranial arterial variations and subarachnoid hemorrhage.

    PubMed

    Kimball, David; Ples, Horia; Kimball, Heather; Miclaus, Gratian D; Matusz, Petru; Loukas, Marios

    2015-01-01

    The trigeminal artery is one of four primitive anastomoses between the internal carotid artery and vertebrobasilar system that regresses in the sixth week of fetal development. A persistent trigeminal artery (PTA) is generally an incidental finding but may also be associated with intracranial vascular pathologies such as aneurysms, arteriovenous malformations, and cranial nerve compression syndromes. We present an extremely rare case of a right PTA with an associated bleeding fusiform aneurysm located in the carotidian (lateral) part of the PTA. In addition, this rare anatomic variation was associated with bilateral absence of the posterior communicating arteries, a left posterior cerebral artery originating from the left internal carotid artery, and agenesis of the A1 segment of the left anterior cerebral artery. PMID:25053265

  12. Combined neuroradiological and neurosurgical treatment of intracerebral arteriovenous malformations.

    PubMed

    Adelt, D; Brückmann, H; Krenkel, W; Hacke, W; Zeumer, H

    1988-07-01

    Four patients with intracerebral vascular malformations underwent preoperative butylcyanoacrylate embolization via a calibrated leak catheter, in order to reduce the risks of surgery alone. In three cases the malformation was removed without causing neurological deficits. One patient died later from recurrent bleeding. PMID:3171616

  13. 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

  14. 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

  15. Genetics Home Reference: cerebral cavernous malformation

    MedlinePlus

    ... R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22. Citation on ... CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous ...

  16. 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. PMID:27587990

  17. [Elective cerebral arteriovenous malformation treatment with onyx after coil embolization of ruptured, flow-realeted aneurysm of the posterior circulation].

    PubMed

    Poncyljusz, Wojciech; Falkowski, Aleksander; Rać, Monika; Sagan, Leszek; Kojder, Ireneusz

    2012-01-01

    Intracranial arteriovenous posterior circulation malformation was planned to embolize by onyx injection after acute coil embolization of ruptured flow-realeted aneurysm of posterior cerebral artery. Control angiography revealed completely embolized malformation with normal vessel patency at the end of procedure. There were no adverse events related to this procedure and no neurologic deficit at the discharge. PMID:23276020

  18. Arteriovenous malformations of the head and neck: current concepts in management.

    PubMed

    Fowell, Christopher; Jones, Robert; Nishikawa, Hiroshi; Monaghan, Andrew

    2016-06-01

    The field of vascular anomalies and their clinical management is expanding and developments in the last few years have improved the understanding of haemangiomas and vascular malformations. In this paper, the first in the series of 3 educational reviews, we review the current trends and evidence-based management of arteriovenous malformations. PMID:27020371

  19. Increased intracranial pressure

    MedlinePlus

    Increased intracranial pressure is a rise in the pressure inside the skull that can result from or cause brain injury. ... Increased intracranial pressure can be due to a rise in pressure of the cerebrospinal fluid. This is ...

  20. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    PubMed Central

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment. PMID:27413264

  1. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    PubMed Central

    Achar, Shashidhar Vedavyas; Dutta, Hemonta Kumar

    2016-01-01

    Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%), and corpus callosal agenesis (12 patients) was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients), hydrocephalus (7 patients), and agyria-pachygyria complex (2 patients). Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations. PMID:27313974

  2. 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

  3. Cerebellar and Brainstem Malformations.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-08-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. PMID:27423798

  4. 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

  5. Idiopathic Intracranial Hypertension (Pseudotumor Cerebri)

    MedlinePlus

    ... Asked Questions Español Condiciones Chinese Conditions Idiopathic Intracranial Hypertension (Pseudotumor Cerebri) En Español Read in Chinese What is idiopathic intracranial hypertension? Idiopathic intracranial hypertension (IIH) is a disorder that ...

  6. Recurrent subdural hygromas after foramen magnum decompression for Chiari Type I malformation.

    PubMed

    Pereira, Erlick A C; Steele, Louise F; Magdum, Shailendra A

    2014-06-01

    A paediatric case of foramen magnum decompression for Chiari Type I malformation complicated by recurrent subdural hygromas (SH) and raised intracranial pressure without ventriculomegaly is described. SH pathogenesis is discussed, with consideration given to arachnoid fenestration. We summarise possibilities for treatment and avoidance of this unusual consequence of foramen magnum decompression. PMID:23952134

  7. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

    PubMed

    Macmurdo, Colleen F; Wooderchak-Donahue, Whitney; Bayrak-Toydemir, Pinar; Le, Jenny; Wallenstein, Matthew B; Milla, Carlos; Teng, Joyce M C; Bernstein, Jonathan A; Stevenson, David A

    2016-06-01

    Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc. PMID:26969842

  8. Medical management of vascular anomalies.

    PubMed

    Trenor, Cameron C

    2016-03-01

    We have entered an exciting era in the care of patients with vascular anomalies. These disorders require multidisciplinary care and coordination and dedicated centers have emerged to address this need. Vascular tumors have been treated with medical therapies for many years, while malformations have been historically treated with endovascular and operative procedures. The recent serendipitous discoveries of propranolol and sirolimus for vascular anomalies have revolutionized this field. In particular, sirolimus responses are challenging the dogma that vascular malformations are not biologically active. While initially explored for lymphatic anomalies, sirolimus is now being used broadly throughout the spectrum of vascular anomalies. Whether medical therapies are reserved for refractory patients or used first line is currently dependent on the experience and availability of alternative therapies at each institution. On the horizon, we anticipate new drugs targeting genes and pathways involved in vascular anomalies to be developed. Also, combinations of medications and protocols combining medical and procedural approaches are in development for refractory patients. PMID:27607327

  9. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  10. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams. PMID:26130989

  11. Surgical management of arteriovenous malformation.

    PubMed

    Visser, Anniek; FitzJohn, Trevor; Tan, Swee T

    2011-03-01

    This article presents our experience in managing a series of consecutive patients with arteriovenous malformation (AVM) referred to our Vascular Anomalies Centre over a 14-year period. These patients were culled from our prospective Vascular Anomalies Database 1996-2010. The medical records of these patients were reviewed to supplement the data collected. Out of 1131 patients with vascular anomalies, 53 patients (22 males, 31 females) with AVM were identified. Their mean age was 29 (range: 3-88) years with 14 stage-III, 34 stage-II and five stage-I AVMs, affecting the head and neck area (n=32), lower limb (n=13), upper limb (n=7) and trunk (n=1). Eight patients with eight stage-III and 14 patients with 15 stage-II AVMs underwent definitive surgery following preoperative embolisation in 10 patients. Seventeen patients required reconstruction with free flaps (n=8) or local or regional flaps (n=9), tissue expansion (n=4), tendon recession (n=1), tendon transfer (n=1), osseo-integration (n=1) and skin grafting (n=5). Fourteen patients required a combination of reconstructive techniques. During an average follow-up of 54 (range: 10-135) months, two (8.7%) lesions recurred but were improved following surgery. One patient with life-threatening stage-III AVM underwent 'palliative' surgery following preoperative embolisation and the lesion had improved and remained stable during the 4-year follow-up period. AVM is a challenging clinical problem that requires a multidisciplinary team approach. Complete surgical excision remains the gold-standard treatment and immediate reconstruction is an integral part of definitive surgery for AVM. The heterogeneous nature of AVM requires treatment to be tailored for individual patients and the complex excision defects necessitate expertise in a variety of reconstructive techniques. Our experience shows a recurrence rate of 8.7% following definitive surgery for AVM. PMID:20663728

  12. Symptomatic posterior fossa and supratentorial subdural hygromas as a rare complication following foramen magnum decompression for Chiari malformation Type I.

    PubMed

    Bahuleyan, Biji; Menon, Girish; Hariharan, Easwer; Sharma, Mridul; Nair, Suresh

    2011-02-01

    Symptomatic subdural hygroma due to foramen magnum decompression for Chiari malformation Type I is extremely rare. The authors present their experience with 2 patients harboring such lesions and discuss treatment issues. They conclude that the possibility of subdural hygromas should be considered in all patients presenting with increased intracranial tension following foramen magnum decompression for Chiari malformation Type I. Immediate neuroimaging and appropriate surgical intervention provides a good outcome. PMID:20849216

  13. Corpus callosum arteriovenous malformation with persistent trigeminal artery.

    PubMed

    Mohanty, Chandan B; Devi, B Indira; Somanna, Sampath; Bhat, Dhananjaya I; Dawn, Rose

    2011-12-01

    A 13-year-old boy presented with an intracerebral haematoma secondary to a large corpus callosal arteriovenous malformation (AVM) with an associated persistent trigeminal artery, and was treated with Gamma-Knife Radiosurgery for the AVM. This report discusses the embryological basis, radiological features and various classifications of this rare vascular anomaly. PMID:21501055

  14. Diagnostic imaging in the evaluation of vascular birthmarks.

    PubMed

    Burrows, P E; Laor, T; Paltiel, H; Robertson, R L

    1998-07-01

    This article reviews the role of modern diagnostic imaging in the evaluation of patients with vascular birthmarks. There are two main categories of vascular anomalies: hemangiomas and vascular malformations. The findings on plain radiography, sonography, computed tomography (CT), magnetic resonance imaging (MRI) and angiography, and the appropriate sequence of investigation for the different vascular anomalies are discussed. PMID:9704205

  15. Intracranial pressure monitoring

    MedlinePlus

    ICP monitoring; CSF pressure monitoring ... There are 3 ways to monitor pressure in the skull (intracranial pressure). INTRAVENTRICULAR CATHETER The intraventricular catheter is the most accurate monitoring method. To insert an intraventricular catheter, a ...

  16. 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 ...

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

    PubMed

    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

  18. 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

  19. Intracranial Artery Calcification and Its Clinical Significance

    PubMed Central

    Wu, Xiao Hong; Wang, Li Juan; Wong, Ka Sing

    2016-01-01

    Intracranial arterial calcification (IAC) is an easily identifiable entity on plain head computed tomography scans. Recent studies have found high prevalence rates for IAC worldwide, and this may be associated with ischemic stroke and cognitive decline. Aging, traditional cardiovascular risk factors, and chronic kidney disease have been found to be associated with IAC. The severity of IAC can be assessed using different visual grading scales or various quantitative methods (by measuring volume or intensity). An objective method for assessing IAC using consistent criteria is urgently required to facilitate comparisons between multiple studies involving diverse populations. There is accumulating evidence from clinical studies that IAC could be utilized as an indicator of intracranial atherosclerosis. However, the pathophysiology underlying the potential correlation between IAC and ischemic stroke—through direct arterial stenosis or plaque stability—remains to be determined. More well-designed clinical studies are needed to explore the predictive values of IAC in vascular events and the underlying pathophysiological mechanisms. PMID:27165425

  20. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ≈ 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  1. Etiologies of uterine malformations.

    PubMed

    Jacquinet, Adeline; Millar, Debra; Lehman, Anna

    2016-08-01

    Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. © 2016 Wiley Periodicals, Inc. PMID:27273803

  2. Genetic factors involves in intracranial aneurysms – actualities

    PubMed Central

    Mohan, D; Munteanu, V; Coman, T; Ciurea, AV

    2015-01-01

    Intracranial aneurysm (IA) is a common vascular disorder, which frequently leads to fatal vascular rupture leading to subarachnoid hemorrhage (SAH). Although various acquired risk factors associated with IAs have been identified, heritable conditions are associated with IAs formation but these syndromes account for less than 1% of all IAs in the population. Cerebral aneurysm disease is related to hemodynamic and genetic factors, associated with structural weakness in the arterial wall, which was acquired by a specific, often unknown, event. Possibly, the trigger moment of aneurysm formation may depend on the dynamic arterial growth, which is closely related to aging/ atherosclerosis. Genetic factors are known to have an important role in IA pathogenesis. Literature data provide complementary evidence that the variants on chromosomes 8q and 9p are associated with IA and that the risk of IA in patients with these variants is greatly increased with cigarette smoking. Intracranial aneurysms are acquired lesions (5-10% of the population). In comparison with sporadic aneurysms, familial aneurysms tend to be larger, more often located in the middle cerebral artery, and more likely to be multiple. Abbreviations: DNA = deoxyribonucleic acid, FIA = familial Intracranial Aneurysm, GWAS = genome-wide association studies, IL-6 = interleukin-6, ISUIA = International Study of Unruptured Intracranial Aneurysms, IA = Intracranial aneurysm, mRNA = Messager ribonucleic acid, SNPs = single-nucleotide polymorphisms, SMCs = smooth muscle cells, sIAs = sporadic IAs, SAH = subarachnoid hemorrhage, TNF-α = tumor necrosis factor-alpha, COL4A1 = type IV collagen alpha-1 PMID:26351537

  3. 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

  4. Primary Intracranial Leptomeningeal Melanomatosis

    PubMed Central

    Kim, Do-Hyoung; Lee, Chae-Heuck; Joo, Mee

    2015-01-01

    Primary intracranial malignant melanoma is a very rare and highly aggressive tumor with poor prognosis. A 66-year-old female patient presented a headache that had been slowly progressing for several months. A large benign pigmented skin lesion was found on her back. A brain MRI showed multiple linear signal changes with branching pattern and strong enhancement in the temporal lobe. The cytological and immunohiostochemical cerebrospinal fluid examination confirmed malignant melanoma. A biopsy confirmed that the pigmented skin lesion on the back and the conjunctiva were benign nevi. We report a case of primary intracranial malignant melanoma and review relevant literatures. PMID:26819692

  5. Traumatic Intracranial Aneurysm Formation following Closed Head Injury

    PubMed Central

    Miley, Jefferson T; Rodriguez, Gustavo J; Qureshi, Adnan I

    2008-01-01

    Background: Traumatic intracranial aneurysms are rare conditions that can be a result of non-penetrating head trauma. We report the occurrence of intracranial aneurysms in patients with traumatic brain injury. Methods: All diagnostic cerebral angiograms performed in patients with traumatic brain injury at a level I trauma center from January 2006 to July 2007 were reviewed. Results: Diagnostic cerebral angiography was performed in 74 patients with the diagnosis of closed head injury. A total of 4 traumatic intracranial pseudoaneurysms were found in 4 patients, two in the supraclinoid segment of the internal carotid artery, one in the cavernous segment of the internal carotid artery and one in the paraophthalmic segment of the internal carotid artery. Two patients were treated with coil embolization. One patient had follow up imaging on which there was no change in the size and morphology of the aneurysm. Conclusion: Intracranial aneurysms can develop in patients with closed head injury presumably related to shear or rotational injury. It is unclear whether these aneurysms should be classified as traumatic intracranial aneurysms or pseudoaneurysms, but the pathological findings frequently reveal disruption of the three vascular layers fulfilling the definition of pseudoaneurysm. For these reason we favor the name of post-traumatic intracranial pseudoaneurysms. PMID:22518228

  6. Angiographic Evidence of a Purely Pial Bihemispheric Intracranial Hemangiopericytoma

    PubMed Central

    Stetson, Nathaniel; Vadivelu, Sudhakar; Li, Jiang Y.; Setton, Avi; Chalif, David J.

    2016-01-01

    Background. Classification of hemangiopericytoma (HPC) has evolved to a mesenchymal, nonmeningothelial grade two or three neoplasm according to the World Health Organization; however its blood supply has always been defined by dual origin, pial and dural contribution. Case Description. We present the case of a patient with an intracranial HPC with only pial vascular supply. Angiography confirmed the lack of dural supply to this bihemispheric intracranial mass. Subsequent histologic examination confirmed the diagnosis of hemangiopericytoma. Angiographic evidence here is atypical of the natural history of hemangiopericytomas with dual vascular supply and was critical in the decision-making towards surgical resection without tumor embolization. Conclusion. Data presented suggests the lack of dural vascular supply alone does not rule out the diagnosis of hemangiopericytoma. PMID:26881155

  7. Pediatric intraoral high-flow arteriovenous malformation: a diagnostic challenge.

    PubMed

    Petel, Roy; Ashkenazi, Malka

    2014-01-01

    Arteriovenous malformations (AVMs) are rarely reported in the dental pediatric literature. They may develop adjacent to primary molars and can be life-threatening due to their potential for massive bleeding. The most common symptom associated with documented cases of AVMs is spontaneous gingival bleeding. Other clinical signs include pain, erythematous gingiva, resorption and mobility of teeth, soft tissue discoloration, facial swelling, and asymmetry. Radiographically, AVMs are osteolytic lesions. The purpose of this report was to describe the challenge of diagnosis of a high-flow arteriovenous malformation located in the primary maxillary molar region, which was misdiagnosed as a dentoalveolar abscess adjacent to previously treated primary molars. A decision to extract a tooth with gingival swelling and associated spontaneous bleeding should be made after the differential diagnosis of a vascular malformation has been ruled out. PMID:25303512

  8. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  9. 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. PMID:26631589

  10. 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

  11. Primary Intracranial Synovial Sarcoma.

    PubMed

    Patel, Mohit; Li, Luyuan; Nguyen, Ha Son; Doan, Ninh; Sinson, Grant; Mueller, Wade

    2016-01-01

    Background. Synovial sarcoma is an aggressive soft tissue sarcoma with uncertain histological origin. The pathology frequently presents as a localized disease, especially near large joints around the knee and thigh. Intracranial disease, which is rare, has been reported as metastasis from synovial sarcoma. We report a case with no obvious primary extracranial pathology, suggesting primary intracranial disease; this has not been reported in the literature. Case Description. A 21-year-old male, with a prior right skull lesion resection for atypical spindle cell neoplasm, presented with headaches, gait instability, left arm weakness, and left homonymous hemianopsia. CT of head demonstrated a right parietal hemorrhagic lesion with mass effect, requiring surgical decompression. Histopathology revealed synovial sarcoma. FISH analysis noted the existence of the t(X;18)(p11.2;q11.2) chromosomal translocation. PET scan did not show other metastatic disease. He underwent stereotactic radiotherapy and adjuvant chemotherapy. At 2-year follow-up, he remained nonfocal without recurrence. Conclusion. We report the first known case of primary intracranial synovial sarcoma. Moreover, we stress that intracranial lesions may have a tendency for hemorrhage, requiring urgent lifesaving decompression. PMID:27247811

  12. Primary Intracranial Synovial Sarcoma

    PubMed Central

    Li, Luyuan; Sinson, Grant; Mueller, Wade

    2016-01-01

    Background. Synovial sarcoma is an aggressive soft tissue sarcoma with uncertain histological origin. The pathology frequently presents as a localized disease, especially near large joints around the knee and thigh. Intracranial disease, which is rare, has been reported as metastasis from synovial sarcoma. We report a case with no obvious primary extracranial pathology, suggesting primary intracranial disease; this has not been reported in the literature. Case Description. A 21-year-old male, with a prior right skull lesion resection for atypical spindle cell neoplasm, presented with headaches, gait instability, left arm weakness, and left homonymous hemianopsia. CT of head demonstrated a right parietal hemorrhagic lesion with mass effect, requiring surgical decompression. Histopathology revealed synovial sarcoma. FISH analysis noted the existence of the t(X;18)(p11.2;q11.2) chromosomal translocation. PET scan did not show other metastatic disease. He underwent stereotactic radiotherapy and adjuvant chemotherapy. At 2-year follow-up, he remained nonfocal without recurrence. Conclusion. We report the first known case of primary intracranial synovial sarcoma. Moreover, we stress that intracranial lesions may have a tendency for hemorrhage, requiring urgent lifesaving decompression. PMID:27247811

  13. Retinal vascular changes are a marker for cerebral vascular diseases

    PubMed Central

    Moss, Heather E.

    2016-01-01

    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. PMID:26008809

  14. 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

  15. 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

  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. 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

  18. 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

  19. Ten self-inflicted intracranial penetrating nail gun injuries

    PubMed Central

    Yuh, Sung-Joo; Alaqeel, Ahmed

    2015-01-01

    Penetrating craniocerebral injuries from nail gun use are rare. We describe a case of 10 self-inflicted nail gun injuries with intracranial penetrations. We also review the literature and discuss management strategies of such craniocerebral trauma. A 33-year-old male with a long-standing history of severe depression took a nail gun and sustained 10 penetrating intracranial injuries. Initial neuroimaging revealed 10 penetrating nails, all sparing the major cerebral vasculature. Immediate surgical removal was undertaken in the surgical suite using a combination of craniotomies, craniectomies, and blind removal. Intracranial injuries from self-inflicted nail gun misuse is becoming increasingly more frequent. Initial appropriate clinical decision-making are critical in preventing further cortical or vascular damage. PMID:26166596

  20. [Intracranial hemorrhage caused by neurosyphilis: a case report].

    PubMed

    Koh, Masaki; Kashiwazaki, Daina; Yamatani, Kazumasa; Kuroda, Satoshi

    2014-08-01

    It is well known that neurosyphilis is a cause of stroke and its main subtype is ischemic stroke. In this report, we present a rare case with intracranial hemorrhage in left frontal lobe and subarachnoid hemorrhage due to neurosyphilis. A 56-year-old man developed conscious disturbance, right hemiparesis, and motor aphasia, and was admitted to our hospital. Rapid plasma reagin(RPR)and fluorescent treponemal antibody-absorption(FTA-ABS)serology was positive in blood and cerebrospinal fluid. MR angiography and 3D-CT angiography demonstrated no vascular abnormalities. He responded well to penicillin treatment, followed by complete resolution of his neurological symptoms. Diagnosis of neurosyphilis is sometimes difficult, as patients usually present with non-specific symptoms such as intracranial hemorrhage. To our knowledge, only 3 cases of intracranial hemorrhage caused by neurosyphilis have been reported previously. This case is reported to raise the awareness of this uncommon but important manifestation of neurosyphilis. PMID:25087758

  1. Decompressive craniectomy for arteriovenous malformation-related intracerebral hemorrhage.

    PubMed

    Takeuchi, Satoru; Takasato, Yoshio; Masaoka, Hiroyuki; Nagatani, Kimihiro; Otani, Naoki; Wada, Kojiro; Mori, Kentaro

    2015-03-01

    Arteriovenous malformation (AVM)-related intracerebral hemorrhage (ICH) is the cause of approximately 2-3% of ICH and is an important factor in the significant morbidity and mortality in patients with AVM. Decompressive craniectomy (DC) is a surgical procedure to relieve malignant elevation of intracranial pressure. The use of DC to treat patients with AVM-ICH has been much less common. The present study describes our experience with DC for AVM-ICH and discusses the safety of this procedure. The present retrospective analysis compared 12 consecutive patients treated with DC for AVM-ICH with 23 patients treated with DC for hypertensive ICH. Nine patients were male and three were female, aged from 11 to 53 years (mean, 31.7 years). Hematoma volumes ranged from 50 to 106 ml (mean, 75.8 ml). The outcomes were good recovery in one patient, moderate disability in three, severe disability in seven, and vegetative state in one. Complications after DC included subdural hygroma in four patients, hydrocephalus in one, intracranial infection in two, and intracranial hemorrhage in one. No significant difference was found in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. In conclusion, the present study found no significant difference in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. Further investigations including a prospective randomized trial are needed to confirm the safety and efficacy of DC for the treatment of large AVM-ICH. PMID:25564272

  2. Brain arteriovenous malformations.

    PubMed

    Ferrara, Adi R

    2011-01-01

    An arteriovenous malformation (AVM) is a particular abnormality of blood vessels. Brain AVMs are congenital, but symptoms usually do not appear until the second decade of life - if at all. The most common presenting symptom is a brain hemorrhage, but other possible symptoms include neurological deficits, seizures and headaches. Until recently, the gold standard for diagnosing AVM was conventional angiography. However, computed tomography and magnetic resonance angiography are now the first-line diagnostic tools for AVMs. This article reviews the presenting symptoms, diagnostic procedures and treatment options for brain AVMs, including embolization, micro-surgery and radiosurgery. This article is a Directed Reading. Your access to Directed Reading quizzes for continuing education credit is determined by your CE preference. For access to other quizzes, go to www.asrt.org/store. PMID:21771938

  3. Unusual Presentation of Cerebral Cavernous Malformation.

    PubMed

    Kim, Won-Hyung; Lim, Dong-Jun; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-09-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  4. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  5. Intracranial chondroma: a rare entity

    PubMed Central

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

    2011-01-01

    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. PMID:22696735

  6. Cervical Myelopathy Caused by Intracranial Dural Arteriovenous Fistula

    PubMed Central

    Kim, Won Young; Kim, Jin Bum; Nam, Taek Kyun; Kim, Young Baeg

    2016-01-01

    Intracranial dural arteriovenous fistula (dAVF) usually results in various problems in the brain. But it can be presented as a myelopathy, which may make early diagnosis and management to be difficult. We recently experienced a case of cervical myelopathy caused by intracranial dAVF. A 60-year-old man presented with a 3-year history of gait disturbance due to a progressive weakness of both legs. Neurological examination revealed spastic paraparesis (grade IV) and Babinski sign on both sides. Magnetic resonance imaging showed serpentine vascular signal voids at C2-T1 on T2-weighted image with increased signal intensity and swelling of spinal cord at C1-C4. We performed a brain computed tomography angiography and found intracranial dAVF with multiple arteriovenous shunts. Venous drainages were noted at tentorial veins and cervical perimedullary veins. After Onyx embolization, the patient showed gradual improvement in motor power and gait disturbance. The venous drainage pattern is a well-known prognostic factor of dAVF. In our case, the intracranial dAVF drained to spinal perimedullary vein, which seemed to result in the ischemic myelopathy. Although it is rare condition, it sometimes can cause serious complications. Therefore, we should keep in mind the possibility of intracranial dAVF when a patient presents myelopathy. PMID:27437016

  7. Cervical Myelopathy Caused by Intracranial Dural Arteriovenous Fistula.

    PubMed

    Kim, Won Young; Kim, Jin Bum; Nam, Taek Kyun; Kim, Young Baeg; Park, Seung Won

    2016-06-01

    Intracranial dural arteriovenous fistula (dAVF) usually results in various problems in the brain. But it can be presented as a myelopathy, which may make early diagnosis and management to be difficult. We recently experienced a case of cervical myelopathy caused by intracranial dAVF. A 60-year-old man presented with a 3-year history of gait disturbance due to a progressive weakness of both legs. Neurological examination revealed spastic paraparesis (grade IV) and Babinski sign on both sides. Magnetic resonance imaging showed serpentine vascular signal voids at C2-T1 on T2-weighted image with increased signal intensity and swelling of spinal cord at C1-C4. We performed a brain computed tomography angiography and found intracranial dAVF with multiple arteriovenous shunts. Venous drainages were noted at tentorial veins and cervical perimedullary veins. After Onyx embolization, the patient showed gradual improvement in motor power and gait disturbance. The venous drainage pattern is a well-known prognostic factor of dAVF. In our case, the intracranial dAVF drained to spinal perimedullary vein, which seemed to result in the ischemic myelopathy. Although it is rare condition, it sometimes can cause serious complications. Therefore, we should keep in mind the possibility of intracranial dAVF when a patient presents myelopathy. PMID:27437016

  8. Intraocular/Intracranial pressure mismatch hypothesis for visual impairment syndrome in space.

    PubMed

    Zhang, Li-Fan; Hargens, Alan R

    2014-01-01

    Visual impairment intracranial pressure syndrome (VIIP) is considered a major risk for future human spaceflight. Loss of hydrostatic pressure gradients in vascular and cerebrospinal fluid systems due to the removal of gravity associated with subsequent intracranial and intraocular fluid shifts and the resulting intraocular/intracranial pressure mismatch might be important etiology factors causingVIIP syndrome. Acclimation changes in the ocular and cerebral circulation and the two fluid systems during chronic microgravity exposure and their underlying mechanisms need further elucidation. Relevant findings may help to validate the pressure differential hypothesis for VlIP syndrome and to evaluate whether a gravity based countermeasure is needed. PMID:24479265

  9. PHACE(S) Syndrome With Absent Intracranial Internal Carotid Artery and Anomalous Circle of Willis.

    PubMed

    Winter, Pieta R; Itinteang, Tinte; Leadbitter, Philip; FitzJohn, Trevor; Tan, Swee T

    2015-06-01

    The authors present a case of PHACE(S) (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies, and sternal cleft or supraumbilical raphe) syndrome with a right-sided segmental infantile hemangioma, and describe in detail, the associated absent ipsilateral intracranial internal carotid artery and anomalous Circle of Willis. Propranolol therapy led to accelerated, complete involution. Nadolol may reduce the theoretical risk of treating PHACE(S) patients with β-blockers. PMID:26080245

  10. Arteriovenous malformations of the bladder.

    PubMed

    Grunberger, I; DeAsis, A; Torno, R; Godec, C J

    1989-01-01

    We report a rare case of a localized arteriovenous malformation of the bladder mimicking a bladder tumor and presenting with gross hematuria. The mass was successfully resected transurethrally. PMID:2908934

  11. Embolization of uterine arteriovenous malformation

    PubMed Central

    Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

    2013-01-01

    Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

  12. Intracranial Hypertension in Children without Papilledema.

    PubMed

    Chelse, Ana B; Epstein, Leon G

    2015-08-01

    Researchers at Nationwide Children's Hospital studied the frequency of intracranial hypertension without papilledema in children followed in a multispecialty pediatric intracranial hypertension clinic. PMID:26933598

  13. [Combined treatment of arteriovenous malformations of the head and neck].

    PubMed

    Galich, S P; Dabizha, A Iu; Gindich, O A; Ogorodnik, Ia P; Al'tman, I V; Gomoliako, I V; Guch, A A

    2015-01-01

    An arteriovenous malformation (AVM) is a vascular developmental abnormality conditioned by impaired embryonic morphogenesis and characterized by the development of an abnormal connection between arteries and veins. More than 50% of the total number of patients suffering from this pathology are those having the pathological foci localizing in the area of the head and neck. At present, a combined method is both a generally accepted and the most radical one used for treatment for AVM. However, in the majority of cases, excision of the malformation leaves an extensive and complicated defect of tissues, whose direct closure leads to coarse cicatricious deformities. Over the period from 2004 to 2012, we followed up a total of 37 patients presenting with arteriovenous malformations of the head and neck. At admission the patients underwent preoperative examination including clinical tests, ultrasound duplex scanning, arteriography, MRT, and computed tomography. 24-72 hours prior to the operative intervention the patients were subjected to embolisation of the main vessels supplying the vascular malformation. Excision of the AVM was in 8 cases followed by primary closure of the postoperative wound, in 17 patients the defect was closed by transposition of the axial flaps, and 12 subjects underwent free transplantation of composite complexes of tissues. Relapse of the disease was revealed in 17 patients. In the majority of cases, relapses developed during the first year after the operative intervention (10 cases). The control of the disease's course was obtained in 20 patients. In 8 of the 12 patients with free transplantation of flaps we managed to obtain long-term control over the disease's course (more than 5 years). Hence, free microsurgical transplantation of compound complexes of tissues may be considered as a method of choice for closing the defect after excising an AVM in the area of the head and neck. Replacement of the defect with a well-vascularized tissue complex

  14. In vitro model test and preliminary clinical application of a new method of ultrasonographic imaging: Vascular enhancement technology.

    PubMed

    Liu, Xi; Duan, Yun You; Wang, Jia; Sun, Si Guo; Li, Juan; Hou, Wei Hua; Cao, Tie Sheng

    2009-09-01

    Vascular enhancement technology (VET) is a new form of ultrasonographic technology that can optimize images by enhancing the B-mode display with information derived from power Doppler. We designed an in vitro model to evaluate the accuracy and application method of VET and to apply this technology preliminarily in vivo in the vascular periphery. An in vitro model was designed with a flow pump system to simulate blood flow in soft tissue and the intracranial vasculature. Modeling vessels were imaged by traditional B mode, color Doppler flow imaging and VET. The diameter of the various silicon tubes was measured to verify the accuracy of VET. For in vivo application, 15 normal subjects and 26 patients suspected of having carotid artery plaques and cerebrovascular disease were examined using these three image modes. The imaging effects were observed and compared. VET imaging could clarify the lumens of the modeling vessels and reduce artifacts. The caliber of three sizes of silicon tubing was also measured accurately by VET. Of 15 normal subjects, sound artifacts in large vessels were inhibited and the intermedia membrane was clearly displayed by VET. The boundaries of carotid plaques were manifested by VET with well-defined edges. Three cases of hypoechoic soft plaque on the anterior wall missed in B-mode imaging were detected by VET. Intracranial scanning with VET identified cerebral vascular disease, including cerebral stenosis, arteriovenous malformations and aneurysms. The size and shape of the focus displayed by VET coincided with that observed using digital subtraction arteriography. VET is helpful in improving detection of the boundary of vessels and visualization of the microvasculature. PMID:19632758

  15. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  16. Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain.

    PubMed

    Thomas, Jaya Mary; Surendran, Sumi; Abraham, Mathew; Rajavelu, Arumugam; Kartha, Chandrasekharan C

    2016-01-01

    Vascular malformations are developmental congenital abnormalities of the vascular system which may involve any segment of the vascular tree such as capillaries, veins, arteries, or lymphatics. Arteriovenous malformations (AVMs) are congenital vascular lesions, initially described as "erectile tumors," characterized by atypical aggregation of dilated arteries and veins. They may occur in any part of the body, including the brain, heart, liver, and skin. Severe clinical manifestations occur only in the brain. There is absence of normal vascular structure at the subarteriolar level and dearth of capillary bed resulting in aberrant arteriovenous shunting. The causative factor and pathogenic mechanisms of AVMs are unknown. Importantly, no marker proteins have been identified for AVM. AVM is a high flow vascular malformation and is considered to develop because of variability in the hemodynamic forces of blood flow. Altered local hemodynamics in the blood vessels can affect cellular metabolism and may trigger epigenetic factors of the endothelial cell. The genes that are recognized to be associated with AVM might be modulated by various epigenetic factors. We propose that AVMs result from a series of changes in the DNA methylation and histone modifications in the genes connected to vascular development. Aberrant epigenetic modifications in the genome of endothelial cells may drive the artery or vein to an aberrant phenotype. This review focuses on the molecular pathways of arterial and venous development and discusses the role of hemodynamic forces in the development of AVM and possible link between hemodynamic forces and epigenetic mechanisms in the pathogenesis of AVM. PMID:27453762

  17. A case of combined soft tissue and intraosseous venous malformation of the thumb treated with sclerotherapy using a bone marrow aspiration needle

    PubMed Central

    Ishikawa, Kosuke; Sasaki, Satoru; Furukawa, Hiroshi; Nagao, Munetomo; Iwasaki, Daisuke; Fujita, Munezumi; Saito, Noriko; Oyama, Akihiko; Yamamoto, Yuhei

    2015-01-01

    Abstract Vascular malformations of bone are complex lesions that can cause deformity and pain. A combined soft tissue and intraosseous venous malformation of the left thumb in a girl was treated with two sessions of ethanol sclerotherapy using a bone marrow aspiration needle under fluoroscopic guidance.

  18. 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

  19. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    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

  20. Orthopedic issues in vascular anomalies.

    PubMed

    Spencer, Samantha A; Sorger, Joel

    2014-08-01

    Vascular malformations impact the musculoskeletal system depending on the tissue involved (skin, subcutis, muscle, cartilage, or bone), the extent of involvement, and the type of anomalous vessels (arteries, capillaries, veins, or lymphatics). These malformations can cause a multitude of musculoskeletal problems for the patient and their Orthopedic Surgeon to manage. Leg-length discrepancy, intra-articular involvement, muscular lesions, and primary or secondary scoliosis are just to name a few. All of these problems can cause pain, deformity, and a range of functional limitations. Surgical and nonsurgical treatment plans both have a role in the care of these patients. Patients with vascular malformations may also suffer from life-threatening cardiovascular and hematologic abnormalities. For those patients who undergo surgery, thromboembolic risk is elevated, wound breakdown and infection are much more common, and bleeding risk continues well into the postoperative course. Because of the complex nature of these disorders, the clinician must have a full understanding of the types of lesions, their natural history, appropriate diagnostic studies, associated medical problems, indications for treatment, and all the treatment options. For severe malformations, especially syndromes such as CLOVES and Klippel-Trenaunay syndrome, interdisciplinary team management is essential for the best outcomes. PMID:25241103

  1. Ectopic intracranial germinoma.

    PubMed

    Shankar, Samantha; Wu, Xiao; Kalra, Vivek B; Huttner, Anita J; Malhotra, Ajay

    2016-09-01

    Intracranial ectopic germinomas are often associated with synchronous midline disease. Germinomas involving the corpus callosum are exceedingly rare. The reported imaging appearance is not as varied as one might expect and a review of the literature reveals a few common imaging features amongst most ectopic lesions, including cyst formation. We report a 24-year-old man with panhypopituitarism. Neuroimaging revealed three enhancing lesions involving the pituitary infundibulum, the pineal region, and a parenchymal lesion involving the genu of the corpus callosum. The described ectopic mass, a parenchymal lesion, was associated with small peripheral cysts. Stereotactic biopsy and histopathological evaluation revealed this mass to be a germinoma. Following chemotherapy and radiation therapy, there was near-total resolution of the intracranial disease. Preoperative imaging plays an important role, not only in delineating the extent of disease, but also in assisting in generating an appropriate differential diagnosis. Germinomas in the corpus callosum are exceedingly rare but should be considered in the differential of any young patient with a characteristic cystic and solid intra-axial mass. PMID:27050919

  2. 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. PMID:20616180

  3. 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. PMID:26815877

  4. Why study human limb malformations?

    PubMed Central

    Wilkie, Andrew OM

    2003-01-01

    Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena. PMID:12587917

  5. Arteriovenous malformation (AVM) of the maxilla complicated by a local pathogen infection

    PubMed Central

    Ella, Bruno; Lanotte, Aurelie; Sedarat, Cyril; Fricain, Jean-Christophe

    2013-01-01

    Arteriovenous malformations (AVM) are usually observed on the skin, but they can also rarely affect the visceral organs and the maxillofacial area. In the maxillofacial area, these lesions can spread and they are potentially dangerous, as a biopsy or even a simple tooth extraction can lead to a catastrophic haemorrhage that may eventually cause death. There are several indications for the treatment, including age, size and type of vascular malformation. The purpose of this report is to describe an AVM on the maxilla, first diagnosed as an epulis, which has been treated for several years as a chronic local periodontitis. The lesion was finally stabilised after an antibiotic therapy. Improved knowledge of the development of these lesions and collaboration between dentists, radiologists and surgeons are necessary to improve the diagnosis and treatment of vascular malformations. PMID:23376660

  6. Evolutionary origin of cardiac malformations.

    PubMed

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  7. Intracranial aneurysm and sildenafil

    PubMed Central

    Edriss, Hawa; Nugent, Kenneth

    2016-01-01

    Sildenafil is one of the most commonly used drugs for the treatment of erectile dysfunction. To date, we found five reported cases of intracerebral bleeding and two reported cases of subarachnoid hemorrhage related to sildenafil use. We report a 49-year-old hypertensive and diabetic patient who presented with acute pulmonary edema and loss of consciousness following ingestion of 100 mg of sildenafil prior to sexual intercourse. He was not previously aware of the presence of an aneurysm and had no family history of it. Computed tomography of his head revealed a subarachnoid hemorrhage due to rupture of a saccular aneurysm with subsequent repeat hemorrhage within a few hours of presentation. A sudden increase in blood pressure led to pulmonary edema. Studies have shown that sildenafil acts on phosphodiesterase-1, -2 and -5 receptors and leads to a secondary increase in intracerebral circulation and vasodilatory effects, leading to sympathetic overactivity which increases the risk for intracranial bleeding. PMID:27034561

  8. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  9. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... All Close All Description Dandy-Walker malformation affects brain development, primarily development of the cerebellum , which is the ... Walker malformation , signs and symptoms caused by abnormal brain development are present at birth or develop within the ...

  10. 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.