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Sample records for atrophy vascular malformation

  1. Vascular malformations in pediatrics

    International Nuclear Information System (INIS)

    Reith, W.; Shamdeen, M.G.

    2003-01-01

    Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [de

  2. Spinal vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Krings, Timo [University Hospital Aachen, Department of Neuroradiology, Aachen (Germany); University Hospital Aachen, Department of Neurosurgery, Aachen (Germany); Mull, Michael; Thron, Armin [University Hospital Aachen, Department of Neuroradiology, Aachen (Germany); Gilsbach, Joachim M. [University Hospital Aachen, Department of Neurosurgery, Aachen (Germany)

    2005-02-01

    Spinal vascular malformations are rare diseases that consist of true inborn cavernomas and arteriovenous malformations (including perimedullary fistulae, glomerular and juvenile AVMs) and presumably acquired dural arteriovenous fistulae. This review article gives an overview of the imaging features both on MRI and angiography, the differential diagnoses, the clinical symptomatology and the potential therapeutic approaches to these diseases. It is concluded that MRI is the diagnostic modality of first choice in suspected spinal vascular malformation and should be complemented by selective spinal angiography. Treatment in symptomatic patients offers an improvement in the prognosis, but should be performed in specialized centers. Patients with spinal cord cavernomas and perimedullary fistulae type I are surgical candidates. Dural arteriovenous fistulae can either be operated upon or can be treated by an endovascular approach, the former being a simple, quick and secure approach to obliterate the fistula, while the latter is technically demanding. In spinal arteriovenous malformations, the endovascular approach is the method of first choice; in selected cases, a combined therapy might be sensible. (orig.)

  3. Facial vascular malformations in children

    International Nuclear Information System (INIS)

    Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

    1988-01-01

    The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

  4. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

    2015-09-15

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  5. Pediatric central nervous system vascular malformations

    International Nuclear Information System (INIS)

    Burch, Ezra A.; Orbach, Darren B.

    2015-01-01

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  6. Congenital Vascular Malformation

    Science.gov (United States)

    ... surgery or less invasive therapy of the enlarged superficial veins can also be helpful. T he V ascular D isease F oundation Established in 1998, t he Vascular Disease Foundation (VDF) develops educational information and initiatives for patients, ...

  7. Spinal vascular malformations; Spinale Gefaessmalformationen

    Energy Technology Data Exchange (ETDEWEB)

    Yilmaz, U. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

    2012-05-15

    Spinal vascular malformations are a group of rare diseases with different clinical presentations ranging from incidental asymptomatic findings to progressive tetraplegia. This article provides an overview about imaging features as well as clinical and therapeutic aspects of spinal arteriovenous malformations, cavernomas and capillary telangiectasia. (orig.) [German] Spinale Gefaessmalformationen sind eine Gruppe seltener Erkrankungen mit unterschiedlichen klinischen Praesentationen, die vom asymptomatischen Zufallsbefund bis zur progredienten Tetraparese reichen. Dieser Artikel gibt einen Ueberblick ueber radiologische Befunde sowie klinische und therapeutische Aspekte von spinalen arteriovenoesen Malformationen, Kavernomen und kapillaeren Teleangiektasien. (orig.)

  8. tion of vascular malformations

    African Journals Online (AJOL)

    Imaging is only required in cases where there is diag- nostic uncertainty or where interven- tion is required. Ultrasound (with doppler) will rapidly distinguish solid haemangiomas from vascular malfor- mations. Computed tomography. (CT) and magnetic resonance imag- ing (MRI) will help to assess the depth and extent of ...

  9. Cryptic vascular malformations involving the brainstem

    Energy Technology Data Exchange (ETDEWEB)

    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.

  10. Vascular Malformations of the Orofacial Region

    Directory of Open Access Journals (Sweden)

    Daya K Jangam

    2010-01-01

    Full Text Available Vascular malformations are the benign lesion of the blood vessels or vascular elements and are considered errors of vascular morphogenesis, displaying abnormal dilatations, and channels but no increased cell turnover. Vascular malformations are always present at birth and enlarge in proportion to the growth of the child- They do not involute and remain throughout the patient′s life. 1 These lesions occur with equal sex predilection and do not favor any races. Vascular lesions of the face are not very common Most of the oral and oropharyngeal lesions tend to occur in the tongue and the floor of the mouth. 2 In most cases, the diagnosis of vascular malformations is based on clinical evaluation Here a case report is presented of 16-year-old male patient with vascular malformation of the orofacial region. The clinical presentation, radiological finding are discussed with emphasis on recent advances for diagnosis of the same.

  11. Percutaneous Treatment of Peripheral Vascular Malformations

    NARCIS (Netherlands)

    E. van der Linden (Edwin)

    2011-01-01

    textabstractVascular malformations arise from errors in the morphological processes that shape the embryonic vascular system during fetal development. These developmental errors result in abnormal clusters of blood vessels. Although these lesions are present at birth, they might not become visible

  12. [Type I Chiari malformation associated with cerebellar atrophy. Case report].

    Science.gov (United States)

    Moscote-Salazar, Luis Rafael; Calderón-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Lee-Aguirre, Ángel; Alcalá-Cerra, Gabriel

    2017-01-01

    Chiari malformation is characterized by caudal displacement of the cerebellar tonsils that penetrate into the spinal canal through the foramen magnum, achieving reach the atlas or axis. trunk and any drop of the fourth ventricle is observed. Typically is seen in young adults. In some cases scoliosis and Syringomyelic cavities may occur. The authors present (as far as they know) the first case in the literature with long term follow-up, of a caucasian woman with an unusual form of cerebellar atrophy and Chiari Type I malformation, suffering from weakness in his upper and lower extremities with rapidly progression. The patient was successfully treated with suboccipital decompression and C1 laminectomy.

  13. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

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

    2014-01-01

    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. 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. 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

  14. CT imaging of cervical spinal vascular malformation

    International Nuclear Information System (INIS)

    Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto

    1982-01-01

    The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type. (Chiba, N.)

  15. CT imaging of cervical spinal vascular malformation

    Energy Technology Data Exchange (ETDEWEB)

    Ueda, Takashi; Iwamoto, Munehisa; Miyamoto, Etsuo; Kuriyama, Tsuyoshi; Hayama, Tsuneto (Wakayama Red Cross Hospital, Wakayama (Japan))

    1982-05-01

    The patient had a history of the onset of motor paralysis of the right upper and lower extremities. Eight years later, numbness of the right upper extremity and a severe neck pain developed, and transverse paralysis of the lower extremities appeared in about 10 hours. CT demonstrated the presence of spinal vascular abnormality. Angiography suggested arteriovenous malformation of glomus type.

  16. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    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.

  17. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    International Nuclear Information System (INIS)

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

    2013-01-01

    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.

  18. Laser treatment of oral vascular malformations

    Science.gov (United States)

    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.

  19. Vascular malformations of the spine; Spinale Gefaessmalformationen

    Energy Technology Data Exchange (ETDEWEB)

    Thron, A.; Mull, M. [Universitaetsklinikum der RWTH Aachen (Germany). Abt. Neuroradiologie; Reith, W. [Universitaet des Saarlandes, Homburg/Saar (Germany). Abt. fuer Neuroradiologie

    2001-11-01

    The vascular malformations of the spine and spinal cord are rare diseases. Possible symptoms may consist in a transient neurological deficit, a progressive sensorimotor transverse lesion or an acute para- or tetraplegia. Damage to the spinal cord occurs by bleeding, space-occupying effects and venous congestion, rarely by steal effects. Classification of the true inborn malformations differentiates between arteriovenous malformations (AVMs), cavernomas and capillary teleangiectasias. The more frequent spinal dural arteriovenous fistula (SDAVF) of the elderly patient is a probably acquired lesion which is presented in a separate paper. Capillary teleangiectasias are mostly incidental findings but may cause differential diagnostic problems. Cavernomas are important causes of hemorrhage and may initially be obscured within the bleeding. MRI is the most relevant imaging procedure in the early diagnostic workup. In case of an AVM selective spinal angiography is required to define the type of the lesion and to decide about the appropriate therapy which may be endovascular-interventional, neurosurgical, combined or attentive. (orig.) [German] Die Gefaessmalformationen des Spinalkanals und Rueckenmarks sind seltene Erkrankungen, deren moegliche Symptome von transienten neurologischen Ausfaellen bis zur akuten Querschnittlaehmung reichen. Eine Schaedigung des Rueckenmarks kann durch Blutungen, Raumforderungswirkung, venoese Kongestion oder ''Steal-Effekte'' entstehen. Haeufiger als die echten (angeborenen) Malformationen, wozu arteriovenoese Malformationen (AVMs), Kavernome und kapillaere Teleangiektasien gerechnet werden, sind die vermutlich erworbenen spinalen duralen arteriovenoesen Fisteln (SDAVF) des aelteren Patienten, die gesondert dargestellt werden. Die kapillaeren Teleangiektasien sind meist Zufallsbefunde, koennen aber differenzialdiagnostische Verwirrung verursachen. Kavernome sind eine wichtige Ursache fuer Blutungen, wobei sie sich

  20. Spine and spinal cord vascular malformations: pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Gariepy, J.-L.; Houdart, E.; Boukobza, M.; Chapot, R.; Cambra, R.; Merland, J.-J. [Hopital Lariboisiere, Service de Neuroradiologie Therapeutique et Interventionalle, Paris (France)

    1999-12-01

    Spine and spinal cord vascular malformations are an uncommon cause of acute, subacute, episodic or progressive myelopathy. They affect all age groups and constitute important clinical entities because of the high morbidity and even mortality associated with them if they are left untreated. These malformations are classified according to their anatomic location and angioarchitecture (Table 1). Today, magnetic resonance imaging (MRI) is the initial radiologic screening procedure of choice for acute or progressive myelopathy. This pictorial essay reviews the radiologic work-up and the imaging features of spinal vascular malformations, as well as the clinical presentation, the probable pathophysiology and the different treatment modalities. (author)

  1. Arteriovenous Malformations and Other Vascular Lesions of the Central Nervous System

    Science.gov (United States)

    ... Arteriovenous Malformations and Other Vascular Lesions of the Central Nervous System Fact Sheet What are arteriovenous malformations? What are ... What other types of vascular lesions affect the central nervous system? Besides AVMs, three other main types of vascular ...

  2. Vascular malformations of the lower limb with osseous involvement

    NARCIS (Netherlands)

    Breugem, C. C.; Maas, M.; Breugem, S. J. M.; Schaap, G. R.; van der Horst, C. M. A. M.

    2003-01-01

    Vascular malformations are rare congenital lesions which often have associated skeletal changes. Over a period of ten years, 90 patients at our clinic had a vascular anomaly of the lower limb, examined by either CT or MRI. Of these, 18 (20%) had bony involvement. A questionnaire was sent to these

  3. Angiographic findings of congenital vascular malformation in soft tissue

    International Nuclear Information System (INIS)

    Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

    1994-01-01

    We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

  4. Magnetic resonance venography of congenital vascular malformations of the extremities

    International Nuclear Information System (INIS)

    Laor, T.; Burrows, P.E.; Hoffer, F.A.

    1996-01-01

    Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

  5. Xenon-enhanced CT CBF measurements in intracranial vascular malformations

    International Nuclear Information System (INIS)

    Uchida, Kohichi; Tamura, Kiyotaka; Takayama, Hideichi; Kodaki, Kohei; Kawase, Takeshi; Shiga, Hayao; Toya, Shigeo

    1989-01-01

    In the management of intracranial vascular malformations, it is important to know the regional cerebral blood flow in its surrounding structure. However, CT scan with contrast medium and angiography have only a limited ability to estimate the rCBF. In this study, stable xenon-computerized tomography scanning by means of the end-tidal gas-sampling method was performed in eleven patients with intracranial vascular malformations. Seven of the patients had arteriovenous malformations, three had venous angiomas and one had aneurysm of the vein of Galen. In two patients with large arteriovenous malformations, in two with 'larger' venous angioma and in one with aneurysm of the vein of Galen, rCBF values were significantly reduced, particularly adjacent to the malformations. In contrast, there were no areas showing reduced rCBF in cases where the malformations were small. This indicates development of ischemia correlates with the size of malformations. From the xenon-enhanced CT scan and angiographic findings, the presence of steal phenomenon with venous congestion might be a cause of rCBF reduction in those cases where ischemia exists. (author)

  6. Vascular permeability in cerebral cavernous malformations

    DEFF Research Database (Denmark)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ...

  7. Imaging findings and therapeutic alternatives for peripheral vascular malformations

    International Nuclear Information System (INIS)

    Monsignore, Lucas Moretti; Nakiri, Guilherme Seizem; Santos, Daniela dos; Abud, Thiago Giansante; Abud, Daniel Giansante

    2010-01-01

    Peripheral vascular malformations represent a spectrum of lesions that appear through the lifetime and can be found in the whole body. Such lesions are uncommon and are frequently confounded with infantile hemangioma, a common benign neoplastic lesion. In the presence of such lesions, the correlation between the clinical and radiological findings is extremely important to achieve a correct diagnosis, which will guide the best therapeutic approach. The most recent classifications for peripheral vascular malformations are based on the blood flow (low or high) and on the main vascular components (arterial, capillary, lymphatic or venous). Peripheral vascular malformations represent a diagnostic and therapeutic challenge, and complementary methods such as computed tomography, Doppler ultrasonography and magnetic resonance imaging, in association with clinical findings can provide information regarding blood flow characteristics and lesions extent. Arteriography and venography confirm the diagnosis, evaluate the lesions extent and guide the therapeutic decision making. Generally, low flow vascular malformations are percutaneously treated with sclerosing agents injection, while in high flow lesions the approach is endovascular, with permanent liquid or solid embolization agents. (author)

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

    Science.gov (United States)

    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.

  9. Magnetic resonance imaging findings of vascular malformations of the lower extremity

    NARCIS (Netherlands)

    Breugem, C. C.; Maas, M.; van der Horst, C. M.

    2001-01-01

    Vascular malformations are congenital lesions resulting from a defect during embryogenesis. Magnetic resonance imaging (MRI) is a very effective method for demonstrating detailed information regarding involved structures, extent, and flow characteristics of vascular malformations. In previous MRI

  10. MR angiography and MR imaging of symptomatic vascular malformations.

    Science.gov (United States)

    Dobson, M J; Hartley, R W; Ashleigh, R; Watson, Y; Hawnaur, J M

    1997-08-01

    To define the appearance of peripheral vascular malformations at magnetic resonance angiography (MRA) and assess the role of magnetic resonance imaging (MRI) and MRA in the investigation of these lesions. Fourteen patients (aged 8-51 years) with clinical evidence of a vascular malformation were referred for MRI and MRA, performed on a 0.5T GE Vectra superconducting system (International General Electric, Slough, UK). Multisection T1-weighted spin-echo and T2-weighted fast spin-echo pulse sequences were performed, with an inversion recovery fast spin-echo sequence in two cases. Two-dimensional time of flight (2-D TOF) and/or 2-D phase contrast (PC) MRA was performed in 13 cases. Eleven patients had digital subtraction angiography (DSA) using a Phillips Integris V3000 digital angiographic unit. The findings at MRA and MRI were compared with the catheter angiograms, and the effective diagnostic input of MRA and MRI was determined. MRA demonstrated major feeding vessels and multiple intra-lesional vessels in relation to the high flow lesions, features absent in the low flow lesions. However, small feeding vessels to the AVMs were not clearly identified. MRI gave a clear demonstration of the anatomical extent of all lesions. AVMs (n = 6) and venous malformations (n = 6) were reliably distinguished, the former containing multiple serpentine signal voids on T1- and T2-weighted imaging, the latter being hyperintense to fat on T2-weighted images. Two other high-flow lesions diagnosed clinically as vascular malformations appeared solid on MRI, and were diagnosed histologically as a carotid body tumour and an angiomyolipoma. Although 2-D TOF MRA can distinguish AVMs from venous malformations, the technique adds little extra practical information to the diagnostic process, and cannot compete with catheter angiography for the detailed demonstration of AVM feeding vessels. These lesions can also be characterized using spin-echo sequences, though the primary role of MRI is to

  11. Intramuscular vascular malformations of an extremity: findings on MR imaging and pathologic correlation

    International Nuclear Information System (INIS)

    Kim, E.Y.; Ahn, J.M.; Yoon, H.K.; Do, Y.S.; Kim, S.H.; Choo, S.W.; Choo, I.W.; Suh, Y.L.; Kim, S.M.; Kang, H.S.

    1999-01-01

    Objective. To analyze the findings of intramuscular vascular malformations of an extremity on MR imaging and to correlate these findings with histopathologic examination.Design and patients. The findings on MR imaging and the medical records of 14 patients with an intramuscular vascular malformation of the extremity were retrospectively studied. All patients underwent surgical excision. Diagnoses were based on the results of pathologic examination. Findings on MR imaging were noted and correlated with the histopathologic findings.Results. Intramuscular vascular malformations of an extremity showed multi-septate, honeycomb, or mixed appearance on MR imaging. Multi-septate areas correlated with dilated and communicating vascular spaces with flattened endothelium. Honeycomb areas corresponded to vascular spaces with inconspicuous small lumina and thickened vascular walls. Areas of increased signal intensity on T2-weighted images were found in all intramuscular vascular malformations. Infiltrative margins were more commonly seen in intramuscular lymphaticovenous malformations. Adherence to neurovascular structures and orientation of the lesion along the long axis of the affected muscle were more commonly seen in intramuscular venous malformations.Conclusions. Intramuscular vascular malformations showed either a multi-septate, honeycomb, or mixed appearance, reflecting the size of the vascular spaces and the thickness of the smooth muscles of the vessel walls. Prediction of the subtype of an intramuscular vascular malformation of an extremity on MR imaging seems to be difficult, although there are associated findings that may be helpful in the differential diagnosis of each subtype. (orig.)

  12. Cardiac and vascular malformations; Fehlbildungen von Herz und Gefaessen

    Energy Technology Data Exchange (ETDEWEB)

    Ley, S. [Chirurgische Klinik Dr. Rinecker, Abteilung fuer Diagnostische und Interventionelle Radiologie, Muenchen (Germany); Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany); Ley-Zaporozhan, J. [Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Abteilung Paediatrische Radiologie, Muenchen (Germany)

    2015-07-15

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [German] Fehlbildungen von Herz und Gefaessen zeigen einen erheblichen Variationsspielraum. Es gibt zahlreiche Varianten und Defekte mit geringer Auspraegung, welche nur per Zufall im Lauf des Lebens detektiert werden; hierzu zaehlen z. B. die persistierende linke obere Hohlvene oder partielle Lungenvenenfehlmuendungen. Andere kardiovaskulaere Fehlbildungen zeigen sich frueh post partum und muessen zeitnah, meist operativ, versorgt werden. Zu diesem Zeitpunkt ist die Echokardiographie ein etabliertes und vollstaendig ausreichendes Verfahren zur morphologischen und funktionellen Charakterisierung. Nur in seltenen Faellen wird eine zusaetzliche Bildgebung mittels CT oder MRT benoetigt. Wenn ja, stellen die kleinen anatomischen Strukturen, die physiologische Tachykardie und Tachypnoe eine besondere Herausforderung fuer die Diagnostik dar. In dieser Uebersicht werden, unabhaengig vom diagnostischen Verfahren, die haeufigsten vaskulaeren, kardialen und komplexen kardiovaskulaeren Malformationen

  13. Vascular malformations in pediatrics; Vaskulaere Erkrankungen bei Neugeborenen, Saeuglingen und Kindern

    Energy Technology Data Exchange (ETDEWEB)

    Reith, W. [Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik Homburg/Saar (Germany); Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik, 66421, Homburg/Saar (Germany); Shamdeen, M.G. [Kinderklinik, Universitaetsklinikum Homburg/Saar (Germany)

    2003-11-01

    Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [German] Vaskulaere Malformationen sind die haeufigste Ursache einer intrakraniellen Blutung im Saeuglings- und Kindesalter. Deswegen sollte jedes Kind mit einer intrakraniellen Blutung auf eine vaskulaere Malformation und Kindesmisshandlung untersucht werden. Intrazerebrale Gefaessmalformationen beinhalten Vena-Galeni-Anomalien, arteriovenoese Malformationen (AVM), Kavernome, durale arteriovenoese Fisteln, kapillaere Teleangiektasien und venoese Anlagevarianten (DVA). Obwohl einige familiaere Gefaessmalformationen beschrieben sind, tritt die ueberwiegende Mehrzahl spontan auf. Die Klinik, Diagnostik und therapeutischen Optionen werden diskutiert. (orig.)

  14. Acquire uterine vascular malformation: Clinical outcome of transarterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Chae Hoon [Dept. of Radiology, Gangneung Asan Hospital, Gangneung (Korea, Republic of); Yang, Seung Boo; Goo, Dong Erk; Kim, Yong Jae; Lee, Jae Myung; Lee, Woong Hee [Dept. of Radiology, Soonchunhyang University Gumi Hospital, Gumi (Korea, Republic of)

    2017-02-15

    To evaluate clinical outcomes of transarterial embolization of bilateral uterine arteries (UAE) in patients with acquired uterine vascular malformation (UVM). This retrospective study was performed on the medical records of all 19 patients who underwent transarterial embolization of bilateral UAE for the treatment of symptomatic UVMs from January 2003 to June 2011. Embolization was performed via the unilateral femoral artery approach with a catheter and angiographic techniques. Clinical success was defined as definitive resolution of abnormal vaginal bleeding. Post-procedural complications included all adverse events related to the embolization procedure. A total of 20 procedures were performed in 19 patients. One patient required repeat embolization because of incomplete embolization related to prominent high flow malformation. Clinically, in all patients, bleeding was controlled immediately after embolization. No complications occurred in all patients during the follow up period. In all patients who underwent successful UAE, menstrual cycles were normally restored within 1-2 months. Normal pregnancy with term delivery was observed in two of the 19 cases. Transarterial bilateral UAE is a safe and effective treatment in patients with vaginal bleeding caused by acquired UVM, and it allows the possibility of future pregnancy.

  15. Non-fatal hemorrhage from pontine vascular malformations

    International Nuclear Information System (INIS)

    Yamashita, Junkoh; Aoyama, Ikuhiro; Gi, Hidefuku; Handa, Hajime

    1982-01-01

    Pontine vascular malformations have usually been found at autopsy as an incidental finding or as a cause of a fatal hemorrhage. In recent years, however, computerized tomography (CT) has made it possible to visualize these lesions while the patinents are still alive. In this paper, we report 2 cases with non-fatal hemorrhages from pontine vascular malformation. The first case was a 31-year-old housewife with cheif complaints of a sensory disturbance of the left half of the body, double vision, nausea, and vomiting of 2 weeks' duration. CT revealed a small high-density mass, which was partially slightly contrast-enhanced, in the right lower pontine tegmentum, affecting the medial and lateral lemnisci, abducens, facial and acoustic nerves, brachium pontis, medial longitudinal fasciculus, corticospinal and corticobulbar fibers, and parepontine reticular formation. The second case was a 52-year-old female clerk with chief complaints of a sensory disturbance of the right half of the body and gait disturbance of 7 months' duration. CT revealed a small high-density mass, which was partially contrast-enhanced, in the left midpontine tegmentum, affecting the medial and lateral lemnisci, lateral spinothalamic tract, ventral ascending tract of V, and brachium pontis. Although there was no evidence of subarachnoid hemorrhage, both cases were deterirating progressively, probably due to tepeated small intraparenchymal hemorrhages. They were treated by radiation therapy in order to prevent further rebleeding. Fortunately, their symptoms gradually subsided, and both of them were doing well 2 years and one and a half years respectively after radiation therapy. The value of radiation therapy for this disease entity has not yet been established, but it may be worthwhile when the symptoms are worsening and there is no other suitable treatment. (J.P.N.)

  16. Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)

    2012-10-15

    Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.

  17. Clinical application of the amplatzer vascular plug in the embolization of vascular malformations associated with congenital heart diseasee

    International Nuclear Information System (INIS)

    Pan Xin; Wang Cheng; Lu Jing; Wu Weihua; Fang Weiyi

    2009-01-01

    Objective: To evaluate the clinical efficacy of percutaneous transcatheter embolization by using Amplatzer vascular plug (AVP) for the treatment of vascular malformations associated with congenital heart diseases. Methods: During the period of June 2006-June 2008, 12 patients with congenital heart disease accompanied by vascular malformations received transcatheter occlusion of the anomalous vessels with AVP. The vascular malformations included solitary or multiple saccular pulmonary arteriovenous malformation (n = 7), coronary artery fistula (n = 2) and major aortopulmonary collaterals concomitant with severe Fallot' s tetralogy (n = 3). All patients were screened with transthoracic echocardiography (TTE) and thoracic CT angiography (CTA), and all the diagnoses were confirmed by routine cardioangiography. Results: Transcatheter occlusion of vascular malformations with AVP was successfully accomplished in all 12 patients. An angiographic check immediately after the procedure showed that complete occlusion was obtained in all patients and no embolism,migration or residual shunt were seen. Sixteen anomalous vessels were occluded. The mean internal diameter of these vessels was (5.2 ± 1.9) mm,while the mean diameter of AVP used was (9.2 ± 2.4) mm. After the operation (mean 3 months), the follow-up echocardiography and/or thoracic CT angiography showed that in all patients the occlusion remained in satisfactory condition and no residual shunt was found. Conclusions: Percutaneous transcatheter closure of congenital vascular malformations with AVP is technically feasible and clinically effective, this treatment can markedly improve patient's living quality and it is well worth extending its clinical application. (authors)

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

    Science.gov (United States)

    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.

  19. Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

    Directory of Open Access Journals (Sweden)

    Behnaz Moradi

    2017-12-01

    Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

  20. Diagnostic dilemma in vascular mal-formation of the upper lip: a ...

    African Journals Online (AJOL)

    Background: Vascular lesions are broad term used for a wide range of conditions that results in abnormal number, structure, or position of blood vessels now widely divided in two groups; vascular tumors and vascular malformations. These lesions could be clinically diagnosed with 90% accuracy, however radiographic ...

  1. Imaging and therapeutic approach of hemangiomas and vascular malformations in the pediatric age group

    International Nuclear Information System (INIS)

    Dubois, J.; Garel, L.

    1999-01-01

    Terminology regarding the vascular lesions of the soft tissues remains confusing. A single classification is necessary in order to decide on the proper investigation and the best treatment. At the Workshop on Vascular Anomalies in Rome in June 1996, the membership accepted the Mulliken and Glowacki classification, which differentiates vascular lesions into vascular tumors, including hemangiomas and vascular malformations. At Sainte-Justine, we have set up a multidisciplinary clinic for the discussion of problem patients with vascular anomalies, both in terms of diagnosis and treatment. In this review, we present our experience regarding the classification, the imaging modalities and the treatment of vascular anomalies. In our experience, Doppler ultrasound should be the initial imaging modality for recognizing vascular tumors from vascular malformations. CT scan or magnetic resonance imaging is best to evaluate the extent of the lesions prior to treatment. A multidisciplinary approach is essential to establish a correct diagnosis and define accordingly the appropriate treatment and follow-up. (orig.)

  2. Vein of Galen malformation: What to do when vascular access is not feasible?

    Directory of Open Access Journals (Sweden)

    Zenteno Marco

    2014-06-01

    Full Text Available Background: The vein of Galen aneurysmal malformation (GVAM is a rare congenital vascular lesion, with high morbidity and mortality without treatment, endovascular management is the best alternative available today.

  3. Gamma-radiosurgery of angiographically occult vascular malformations

    International Nuclear Information System (INIS)

    Kida, Yoshihisa; Kobayashi, Tatsuya; Tanaka, Takayuki; Oyama, Hirofumi; Iwakoshi, Takayasu

    1995-01-01

    Since the installation of Gamma-knife, we have treated 26 cases of AOVM (angiographically occult vascular malformations), who had enough follow-up period more than 12 months. There were 16 males and 10 females, whose ages ranged from 3 to 58 years with an average of 32.7. Their clinical presentations at the onset were hemorrhage in 17, seizure in 7, and progressive neurological deficits in 2. Three cases had multiple lesions of AOVM. Among 26 symptomatic lesions, 15 were located supratentorially, 7 in brain stem and 4 in cerebellar hemisphere. AOVMs were treated with radiosurgery at the marginal doses between 15 to 20 Gy (mean 17.9 Gy). Follow-up studies revealed a rebleeding in one after the treatment in the mean follow-up period of 17.7 months. Among 7 cases presented with seizure, 5 were improved and the other 2 showed no change. Imaging studies with MRI showed a major shrinkage in 1, minor shrinkage in 7, and no obvious change in 18. Symptomatic perifocal edema occurred in 5 (19.2%), especially those who were treated at the marginal dose more than 18 Gy. In conclusion our preliminary clinical results indicate that the radiosurgery with Gamma-knife has positive effects to prevent the rebleeding and to control the seizures associated with symptomatic AOVMs. (author)

  4. Extracranial vascular malformation: value of antenatal and postnatal MRI in management

    Energy Technology Data Exchange (ETDEWEB)

    Roche, C.J.; Pilling, D.W. [Dept. of Radiology, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom); Walkinshaw, S.A. [Dept. of Fetal Medicine, Liverpool Women' s Hospital (United Kingdom); May, P.L. [Dept. of Neurosurgery, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom)

    2001-10-01

    We report a case where fetal MRI using a low-field-strength magnet (0.5 T) accurately confirmed a large extracranial vascular malformation, which was suspected on antenatal US. Fetal MRI enabled better counselling of the parents and allowed suitable plans to be made regarding method of delivery and early management of the neonate. To our knowledge this is the first case of an extracranial vascular malformation imaged using fetal MRI. (orig.)

  5. RETINAL PIGMENT EPITHELIAL ATROPHY AFTER ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INJECTIONS FOR RETINAL ANGIOMATOUS PROLIFERATION.

    Science.gov (United States)

    Hata, Masayuki; Yamashiro, Kenji; Oishi, Akio; Ooto, Sotaro; Tamura, Hiroshi; Miyata, Manabu; Ueda-Arakawa, Naoko; Kuroda, Yoshimasa; Takahashi, Ayako; Tsujikawa, Akitaka; Yoshimura, Nagahisa

    2017-11-01

    To investigate the incidence rate and risk factors for development of retinal pigment epithelial (RPE) atrophy during anti-vascular endothelial growth factor (anti-VEGF) treatment for retinal angiomatous proliferation. This study included 46 eyes with treatment-naive retinal angiomatous proliferation. All patients were treated with ranibizumab or aflibercept injections. Color fundus photography, spectral-domain optical coherence tomography, and fundus autofluorescence were evaluated for RPE atrophy diagnosis. Baseline characteristics and gene polymorphisms of ARMS2 A69S, and CFH I62V were analyzed for association with development and progression of RPE atrophy. Among 21 eyes treated with ranibizumab without preexisting RPE atrophy at baseline, 5 eyes (23.8%) developed RPE atrophy at 12 months. Among 20 eyes treated with aflibercept without preexisting RPE atrophy at baseline, 10 eyes (50.0%) developed RPE atrophy at 12 months. Refractile drusen at baseline was associated with RPE atrophy development at 12 months (P = 0.014), and the progression rate of RPE atrophy area was negatively correlated with subfoveal choroidal thickness at baseline (R = -0.595, P = 0.019). Gene polymorphisms were not associated with RPE atrophy. Retinal pigment epithelial atrophy developed in 36.6% during 12 months after anti-VEGF treatment for retinal angiomatous proliferation. The presence of refractile drusen at baseline was identified as a novel significant risk factor for RPE atrophy development.

  6. Congenital vascular malformations: the persistence of marginal and embryonal veins.

    Science.gov (United States)

    Weber, J; Daffinger, N

    2006-05-01

    In about 18% of cases with conginental vascular malformations we find a perspective of an atypical truncular vein, located along the outside of the leg, frequently extended from the dorsal foot up to the bottom. In presence of a normally developed system of the deep collecting veins of the lower limb and within the pelvic outflow we are talking about a persisting marginal vein (MV). Hypoplasia or even aplasia of the main deep veins in contrary defines the persisting embryonal vein (EV). Already in childhood these truncular dysplastic veins tend to develop varicose enlargement, causing severe reflux of a huge volume of blood--even more when being associated with av-fistulas (46%). In consequence a rapidly growing chronic venous insufficiency will guide to additional injuries. We have analysed 97 patients showing a persisting MV (n: 92 ) within a total of 102 legs. A persistent embryonal vein (EV) was seen 10 times within this clientel. The persisting truncular veins, associated with phlebectasias and typical clinical symptoms have been examined in a diagnostic "step-by-step" procedure, mainly phlebographically (ascending leg phlebography and varicography), including direct venous blood pressure measurements (phlebodynamometry) and--if needed--by arteriography, showing av-shunting fistulae in 46% of cases. CT and MRI were consulted for the exact therapy planing (frequently initially offered as a non-invasive, however, inadequate key of diagnostic). Actually now these techniques cannot replace pre-operatively the angiographic imaging techniques. The analysis of clinical, morphologic and functional signs, guiding to a specific therapy-relevant classification of MV's and EV's will be presented. And a specific strategy of surgical repair, interventional treatment of av-fistulas and conservative compressive follow-up treatment attempting palliative recompensation of the diseased venous outflow will be discussed also.

  7. Pulmonary hypertensive crisis following ethanol sclerotherapy for a complex vascular malformation.

    Science.gov (United States)

    Cordero-Schmidt, G; Wallenstein, M B; Ozen, M; Shah, N A; Jackson, E; Hovsepian, D M; Palma, J P

    2014-09-01

    Anhydrous ethanol is a commonly used sclerotic agent for treating vascular malformations. We describe the case of a full-term 15-day-old female with a complex venolymphatic malformation involving the face and orbit. During treatment of the lesion with ethanol sclerotherapy, she suffered acute pulmonary hypertensive crisis. We discuss the pathophysiology of pulmonary hypertension related to ethanol sclerotherapy, and propose that hemolysis plays a significant role. Recommendations for evaluation, monitoring and management of this complication are also discussed.

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

    Energy Technology Data Exchange (ETDEWEB)

    Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

    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.

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

    International Nuclear Information System (INIS)

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

    2015-01-01

    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

  10. Functional Magnetic Resonance Imaging in the Presurgical Evaluation of Brain Vascular Malformations

    International Nuclear Information System (INIS)

    Montes, Natalia; Herrera, Diego A; Vargas Sergio A

    2010-01-01

    Objective: To describe our experience in presurgical evaluation of intracranial vascular malformations by means of functional magnetic resonance (fMRI). Method: To evaluate eight patients with cerebral vascular malformations (seven arterio-venous malformation [AVM ] and one cavernous malformation) to send to the eloquent cortex with RMf pre-surgical mapping is assessed. Used a technique that is dependent on the level of oxygen (BOLD) to locate these areas in the cerebral vascular malformation, by applying different paradigms. Results: We found one AVM at the right temporal lobe with activation of the parahipocampal gyrus at the contralateral side using a memory paradigm; another patient with an AVM at the right mesotemporal lobe showed activation of visual and spatial memory of the contralateral hippocampus and parahippocampus. One patient with an AVM at the left parietal lobe without compromise of sensorial and motor cortex; a cavernous malformation at the left angular gyrus with hemispheric language dominance in that side; one right thalamic AVM, one periventricular AVM bilateral language dominance; one left occipital AVM with decreased activation in visual association cortex; one temporoccipital AVM with left language dominance and neurovascular uncoupling. Conclusion: fMRI can delineate anatomically the relationship between the lesion and eloquent cortex, providing useful information for presurgical planning and allowing risk estimation of intervention.

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

    Energy Technology Data Exchange (ETDEWEB)

    Tay, Vincent Khwee-Soon, E-mail: vincentkstay@gmail.com [Singapore General Hospital, Department of Plastic, Reconstructive, and Aesthetic Surgery (Singapore); Mohan, P. Chandra, E-mail: chandra.mohan@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore); Liew, Wendy Kein Meng, E-mail: wendy.liew.km@kkh.com.sg [KK Women' s and Children' s Hospital, Department of Paediatrics (Neurology Service) (Singapore); Mahadev, Arjandas, E-mail: arjandas.mahadev@kkh.com.sg [KK Women' s and Children' s Hospital, Department of Orthopaedic Surgery (Singapore); Tay, Kiang Hiong, E-mail: tay.kiang.hiong@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore)

    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.

  12. Comparison between fast contrast-enhanced MR angiography and DSA in diagnosing spinal cord vascular malformations

    International Nuclear Information System (INIS)

    Wang Wu; Li Minghua; Fang Chun; Wang Jue; Xiao Yunfeng

    2007-01-01

    Objective: To evaluate the diagnostic and clinical value of fast contrast-enhanced MR angiography (CE-MRA) with elliptic centric phase-encoding in spinal cord vascular malformations. Methods Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding and superconducting 1.5T system was applied prospectively in twenty-five consecutive patients with clinically suspected of spinal cord vascular malformations. All cases were performed with selective spinal digital subtraction angiography, including 18 cases treated by surgery and 2 of them with embolization before surgery, MR angiography follow up were undertaken in ten patients after surgery. Comparing fast contrast-enhanced MR angiography with DSA in diagnosing spinal cord vascular malformations included the origin of feeding artery, the feeding artery, the fistula or the nidus, the draining vein, and the vessel image quality based on the gold standard of selective spinal digital subtraction angiography. Results: Surgically proven diseases included spinal arteriovenous malformations(3 cases), spinal cord perimedullary arteriovenous fistulas (5 cases), spinal dural arteriovenous fistulas (8 cases), paravertebral arteriovenous fistulas (1 case), and spontaneous spinal epidural hematomas (2 eases). Comparing with DSA, the accuracy of MR angiography in diagnosing spinal cord vascular malformations; and detecting the origin of the feeding artery, the feeding artery, the shunt or the nidus and the draining vein were 93.8%, 92%, 96.2%, 100% and 100%, respectively. Overall the degree vascular enhencement were judged to be similar(P>0.05), but the vessel continuity of MRA was inferior to DSA (P<0.05). However, 9 cases of MRA showed no abnormal vascular malformation coinciding with those of surgery. Posttreatment MR angiography did not depict any abnormal vessels again. Conclusions: Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding may provide

  13. Judicious use of ethanol embolization to improve the curative rate of vascular malformations

    International Nuclear Information System (INIS)

    Wang Jingbing; Fan Xindong; Cheng Yongde

    2010-01-01

    The incidence of vascular malformations is very low, and its clinical manifestations are infinite in variety, from an asymptomatic birthmark to life-threatening massive bleeding, even to congestive heart failure. The pathogenesis of vascular malformations is still unknown, therefore, its effective treatment is a real challenge. With the development of interventional technology and the accumulation of clinical experience in ethanol embolization, in local direct puncture injection and in endovascular embolization, the ethanol embolization will hopefully become the therapy of first choice for this kind of complicate and intractable disorders. (authors)

  14. Genetic tests in lymphatic vascular malformations and lymphedema.

    Science.gov (United States)

    Michelini, Sandro; Paolacci, Stefano; Manara, Elena; Eretta, Costantino; Mattassi, Raul; Lee, Byung-Boong; Bertelli, Matteo

    2018-04-01

    Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and loci , and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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

    International Nuclear Information System (INIS)

    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

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    International Nuclear Information System (INIS)

    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

  18. CO{sub 2} as a contrast medium in endoluminal treatment of high flow vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Gorriz, Elias; Carreira, Jose M.; Reyes, Ricardo; Gallardo, Laura; Pulido, Juan M.; Romero, Alejandro; Maynar, Manuel

    1999-09-01

    Purpose: To evaluate the diagnostic usefulness of CO{sub 2} as a radiologic contrast medium in pre and post-embolization of hemodynamically active vascular malformations. Material and methods: Eight pre and post-embolization angiographies were performed on five patients with hemodynamically active vascular malformations. In all cases sequentially iodinated contrast medium and CO{sub 2} were used. Procedures were performed using Philips Integris V equipped with specific software to process images obtained with CO{sub 2} as contrast medium and with a purpose-built gas injector pump. The images were assessed by three interventional radiologists who evaluated the findings by consensus. They were asked whether uptake of the malformations were better, worse or the same with iodinated contrast and CO{sub 2}. The images were judged according to the following characteristics; quality, the filling in of the contrast in afferent artery of the HAVM, caliber and number of vessels and existence of pathologic communications in HAVM. These characteristics were assessed in all the patients of the study, both before and after embolization. Results: The CO{sub 2} angiographic results were compared to those obtained using iodinated contrast material. Iodinated contrast provided superior image quality in all performed studies. The filling of arterial afference of HAVM was well defined with both contrast media. In all performed cases with CO{sub 2}, the malformations showed more vessels. No immediate nor subsequent complications developed with CO{sub 2} injections, except in one female patient, who presented an intense sensation of cramps in the lower limbs. Conclusion: CO{sub 2} is a useful diagnostic and assessment tool before and especially during the embolization of hemodynamically active vascular malformations. It improves quantification and uptake of the malformation's vascular architecture, detecting collateral circulation and arteriovenous shunts. It also detects residual

  19. Utility of the angio resonance in the diagnose of the vascular malformations

    International Nuclear Information System (INIS)

    Delgado de B, Jorge Andres; Pulgarin, Luis German; Toro, Nancy; Bolivar Guillermo

    1997-01-01

    Vascular malformations (VMS) can be successfully evaluated with a combination of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). The MRA gives good anatomic information while the MRA gives important functional and complementary structural information. The main objectives in a radiological evaluation of the (VMS) is to offer data about the feeding arteries, size and location of the nidus of some malformation, the morphology and the type of venous drainage and other important features that may have therapeutic and prognostic value. From a total of 186 MRA performed in our institution (IATM) from January of 1994 to June 1996, we have diagnosed 17 vascular malformations, most of them categorized as arteriovenous malformations (11 cases) the others were developmental venous anomalies (5 cases of venous angiomas) and one case of a cavernous malformation. Previous imaging did not identify many of the VMS detected by MRA. MRI-MRA is the most sensitive and specific non-invasive method for the evaluation of this congenital lesion

  20. Unexpected diagnosis of superficial neurofibroma in a lesion with imaging features of a vascular malformation

    Energy Technology Data Exchange (ETDEWEB)

    O' Keefe, Patrick; Reid, Janet; Morrison, Stuart [Cleveland Clinic Foundation, Department of Radiology, Cleveland, OH (United States); Vidimos, Allison [Cleveland Clinic Foundation, Department of Dermatology, Cleveland, OH (United States); DiFiore, John [Cleveland Clinic Foundation, Department of Pediatric Surgery, Cleveland, OH (United States)

    2005-12-01

    Plexiform neurofibroma is a pathognomonic, often disabling feature of neurofibromatosis type I. Although the target-like appearance of deep plexiform neurofibroma on T2-weighted MRI has been well-described, a second superficial form of plexiform neurofibroma has differing imaging features. We report a 15-year-old boy who presented with multiple cutaneous lesions exhibiting clinical and imaging characteristics of a venolymphatic malformation. These lesions were histologically proved to represent superficial plexiform neurofibromas. We wish to emphasize the unique MR findings of superficial plexiform neurofibromas; these findings are different from the imaging characteristics of the deep form and can be confused with a low-flow vascular malformation. (orig.)

  1. Intraoperative Localization of Vascular Malformation of Small Bowel by Selective Intra-arterial Dye Injection

    Science.gov (United States)

    Eshpuniyani, Priya B.; Kantharia, Chetan V.; Prabhu, RamKrishna Y.; Supe, Avinash N.

    2010-01-01

    Angiomatous malformation is the most common vascular abnormality, accounting for 30-40% cases of obscure GI bleeding from small bowel. Surgical resection is the treatment of choice in severe or recurrent hemorrhage requiring multiple blood transfusions. However, the diffuse nature of the lesions poses a challenge to localize them accurately preoperatively, for exact resection. We present a case in which we have used selective mesenteric angiography with selective cannulation and exact localization of the lesion by injecting dye such as methylene blue, indigo carmine, and fluorescein, to localize the angiomatous malformation before surgical resection and also to determine the exact resection to be done. PMID:20871200

  2. Spinal vascular malformations in non-perimesencephalic subarachnoid hemorrhage

    NARCIS (Netherlands)

    Germans, M. R.; Pennings, F. A.; Sprengers, M. E. S.; Vandertop, W. P.

    2008-01-01

    OBJECTIVE: In patients with non-traumatic subarachnoid hemorrhage (SAH) and no evidence for a cerebral aneurysm on angiography, a frequent cause of the hemorrhage is perimesencephalic hemorrhage or other cerebral vascular pathology. In some patients no cause is found. The exact incidence of a spinal

  3. Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy.

    Science.gov (United States)

    Lee, Margaret S; Liang, Marilyn G; Mulliken, John B

    2013-10-01

    Categorization of vascular anomalies with overgrowth is evolving rapidly with the aid of massively parallel genomic sequencing; however, accurate clinical diagnosis is still essential. We identified a group of patients with an extensive, diffuse, reticulate capillary malformation (CM) and variable hypertrophy without major complications. We sought to study a subset of patients with diffuse CM to better define prognosis and management. Chart review identified 73 patients with diffuse CM who did not fit the criteria for known disorders with CM and/or overgrowth. Soft-tissue or bony overgrowth did not correlate with location, morphology, or intensity of the vascular stain. Patients required periodic follow-up to monitor for leg length discrepancy. They were found to exhibit normal neurologic development and proportionate overgrowth rather than progressive, disproportionate asymmetry or vascular complications. This retrospective review was limited to observations documented at clinic visits; these patients require long-term assessment. Further studies are necessary to accurately assess Wilms tumor risk and clinical outcomes in older adults. We propose the term "diffuse capillary malformation with overgrowth" to designate this extensive reticular vascular staining with proportionate overgrowth. We differentiate diffuse capillary malformation with overgrowth from other disorders with CM and hypertrophy. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  4. Radiologic evaluation of the therapeutic effect of gamma knife radiosurgery in cerebral vascular malformation

    International Nuclear Information System (INIS)

    Kim, Ig Dae; Kim, Il; Jeon, Young Seup; Lee, Jong Yuk; Lee, Young Jun; Cha, Seong Suk; Eun, Choong Ki; Kim, Mu Seong; Sim, Jae Hong

    1998-01-01

    To evaluate the therapeutic effect of gamma knife radiosurgery in cerebral vascular malformation using a radiologic imaging method such as MRI or angiography. We retrospectively reviewed MRIs, CT scans and angiograms of 29 cases of arteriovenous malformation and 15 of cavernous malformation before and after gamma knife radiosurgery. The patients underwent follow-up radiologic studies for between 6 and 35 months after radiosurgery. No patient underwent other surgery or embolization. Radiological imaging analysis focused on changes in the volume of the nidus or central core. Other findings of edema, cystic change, hemorrhage, signal intensity, enhancement and distributional vascular markings were also studied. The volume of the AVM nidus was measured and assigned to one of four groups: 4-10cc and >10cc. In arteriovenous malformation cases, the volume of the nidus decreased by mean 60.2%;reduction was greatest(68.1%) in the 1-4cc group. Three cases showed complete loss of the nidus at 9, 12 and 25 months after radiosurgery, respectively. In nine cases, decreased caliber or loss of draining vein was noted. High signal intensity on T2-weighted MR images, suggesting either edema or demyelination, was observed in four cases. In cavernous angioma cases, core volume was reduced by 36.8%. Transient cerebral edema and presumed radiation necrosis were observed in two cases and one, respectively. Gamma knife surgery was effective in nearly all cases of arteriovenous malformation and some cases of cavernous malformation. More than two years follow-up involving radiologic imaging such as MRI is needed for the evaluation of therapeutic effect and diagnosis of complications.=20

  5. Smell and taste in patients with vascular malformation of the extracranial head and neck region.

    Science.gov (United States)

    Steinbach, Silke; Fasunla, Ayotunde J; Lahme, Carolin M E; Schäfers, Sophia P; Hundt, Walter; Wolf, Petra; Mandic, Robert; Werner, Jochen A; Eivazi, Behfar

    2014-01-01

    Olfactory and gustatory functions have not been investigated in patients with vascular malformation of the extracranial head and neck region with validated smell and taste tests. Although olfactory and gustatory deficiencies are often not outwardly apparent, they substantially affect daily life. Smell and taste tests using sniffin sticks and taste strips were administered in 40 patients. For all age groups and both sexes, odor threshold (THR) values were, on average, lower in patients than in healthy individuals; whereas, values of odor identification and discrimination were not significantly lower. Regarding odor THR, 33 (82.5%) patients were hyposmic. Taste values (sweet, sour, salty, bitter, and total taste) were, on average, lower in patients than in healthy individuals; 21 (52.5%) patients were hypogeusic. Disease duration did not correlate with smell and taste test values. Patients with and without tongue involvement had decreased odor threshold and taste values. No significant differences were identified when taste values on the left and right sides of the tongue were compared in patients without tongue involvement and with unilateral and bilateral tongue involvement. Patients with venous malformations had lower smell test values, and patients with lymphatic malformations had lower taste test values than patients with other malformations. Patients exhibit significantly reduced olfactory and gustatory function even when the nose and/or tongue are not malformed. Patients should be tested with validated smell and taste tests to adequately inform and advise them about overcoming smell and taste deficits.

  6. Sclerotherapy for low-flow vascular malformations of the head and neck: A systematic review of sclerosing agents

    NARCIS (Netherlands)

    Horbach, Sophie E. R.; Lokhorst, Max M.; Saeed, Peerooz; de Goüyon Matignon de Pontouraude, Claire M. F.; Rothová, Aniki; van der Horst, Chantal M. A. M.

    2016-01-01

    Sclerotherapy has become the gold standard for the first-line therapy of most venous (VMs) and lymphatic malformations (LMs) of the head and neck. Numerous sclerosing agents are used to treat these low-flow vascular malformations; however, to date, it remains unclear which sclerosing agent is

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

    International Nuclear Information System (INIS)

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

    2012-01-01

    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%.

  8. The use of 3D computer graphics in the diagnosis and treatment of spinal vascular malformations.

    Science.gov (United States)

    Takai, Keisuke; Kin, Taichi; Oyama, Hiroshi; Iijima, Akira; Shojima, Masaaki; Nishido, Hajime; Saito, Nobuhito

    2011-12-01

    Digital subtraction (DS) angiography is the gold standard for diagnosing spinal vascular malformations. Recently, multidetectorrow spiral CT and contrast-enhanced MR angiography have been introduced as screening examinations before DS angiography. These methods, however, do not always determine the accurate location of an arteriovenous shunt because the resulting images lack information about the spinal cord or the dura mater. Between April 2009 and December 2010, 13 patients underwent imaging evaluations for spinal vascular malformations at the authors' university hospital. This group included 8 patients with spinal dural arteriovenous fistulas (AVFs), 3 with perimedullary AVFs, and 2 with intramedullary arteriovenous malformations. Using data from these patients, the authors attempted to develop 3D computer graphics (CG) based upon the fusion of 3D rotational angiography and postmyelographic CT. They subsequently verified the accuracy of this imaging method. Ten of these 13 patients underwent surgical treatment for their lesions (11 AVFs), and for these 11 lesions the authors compared the diagnoses obtained using 3D CG with those obtained using conventional DS angiography. In all 13 cases, 3D CG images of the spinal lesions were successfully developed using the patients' actual data. Four (36%) of 11 AVFs were correctly identified using DS angiography, whereas 10 (91%) were correctly identified using 3D CG. Results from 3D CG of spinal AVFs corresponded well with operative findings, and 3D CG was significantly better than conventional DS angiography at predicting AVF location (p = 0.024, Fisher exact test). To the authors' knowledge, this is the first reported case series in which 3D CG of spinal vascular malformations was used to provide simultaneous, stereoscopic visualization of the spinal vascular system, spinal cord, dura mater, and bone. The 3D CG method provides precise visual images for the diagnosis and treatment of these lesions.

  9. Effects of physiotherapy combined with sirolimus in a patient with vascular malformation: A case report.

    Science.gov (United States)

    Akbayrak, Türkan; Orhan, Ceren; Baran, Emine; Kaya, Serap; Coskun, Gürsoy; Varan, Ali

    2016-01-01

    The aim of the present case report was to investigate the effects of a physiotherapy program combined with sirolimus in a child patient with upper extremity edema and joint limitation due to low-flow vascular malformation. This case report included an 11-year-old male patient (26 kg, 130 cm) diagnosed with congenital lymphovascular malformation on the left and right chest. The patient, who had edema on the upper left extremity and experienced joint limitations, was administered complete decongestive therapy (CDT) and manual therapy in combination with sirolimus. Physiotherapy included a total of 24 sessions, 3 sessions a week for 8 weeks. Following the physiotherapy, the patient was assigned to a home therapy program, and then the maintenance phase of the CDT was initiated. Evaluations were carried out at baseline, at the end of week 8, and after 12 months. Following the physiotherapy program combined with sirolimus, a decrease in extremity volume, an increase in joint movement range, and an improvement in disease-related complaints were observed. Physiotherapy methods combined with sirolimus may be an effective treatment method in patients with vascular malformations. However, further studies with larger sample size are warranted.

  10. Colonic arteriovenous malformation in a child misinterpreted as an idiopathic colonic varicosis on angiography: remarks on current classification of childhood intestinal vascular malformations

    International Nuclear Information System (INIS)

    Defreyne, L.; Meersschaut, V.; Damme, S. van; Praet, M.; Berrevoet, F.; Robberecht, E.

    2003-01-01

    A case of lower gastrointestinal hemorrhage in a child caused by an arteriovenous malformation (AVM) of the colon is presented. On diagnostic angiography, the lesion was misinterpretated as an idiopathic colonic varicosis because none of the characteristic features of an AVM were present. The role of angiography and shortcomings in nomenclature and classification of intestinal vascular anomalies in childhood are discussed. (orig.)

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

    DEFF Research Database (Denmark)

    Girard, Romuald; Fam, Maged D; Zeineddine, Hussein A

    2017-01-01

    and quantifiable biomarkers of disease activity in CCMs. This may be applied in natural history studies and may help calibrate clinical trials. The 2 techniques are likely applicable in other disorders of vascular integrity and iron leakage such as aging, hemorrhagic microangiopathy, and traumatic brain injury....... permeability at baseline (p = 0.001), as well as higher regional permeability (p = 0.003) in the area that would later develop a new lesion as compared with the homologous contralateral brain region. CONCLUSIONS In vivo assessment of vascular permeability and iron deposition on MRI can serve as objective......OBJECTIVE Vascular permeability and iron leakage are central features of cerebral cavernous malformation (CCM) pathogenesis. The authors aimed to correlate prospective clinical behavior of CCM lesions with longitudinal changes in biomarkers of dynamic contrast-enhanced quantitative permeability...

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

    Directory of Open Access Journals (Sweden)

    Norma Elena de León Ojeda

    2012-01-01

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

  13. Diagnosis and differential diagnosis of cerebro-vascular malformations by CT

    International Nuclear Information System (INIS)

    Schumacher, M.; Stoeter, P.; Voigt, K.

    1980-01-01

    In 38 patients, the diagnosis of a cerebrovascular malformation (17 arteriovenous angiomas including one low-flow- and two venous angiomas; 10 aneurysms; 4 arteriovenous fistulae of the cavernous sinus, the tentorium and one of the Great Vein of Galen; 6 megadolical basilar arteries) was initially made by computertomographic (CT) examination, including contrast enhancement. The characteristic and pathognomonic CT findings are described and compared with those of cerebral angiography also done in these cases. The problems of differential diagnosis and the reasons for a false CT diagnosis in 5 other patients with a cerebro-vascular malformation are investigated; and the diagnostic value of cerebral angiography and CT is discussed and their complementary functions are being pointed out. (orig.) 891 MG/orig. 892 MKO [de

  14. Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations.

    Science.gov (United States)

    Kumar, Neeraj; Eggers, Scott D Z; Milone, Margherita; Keegan, B Mark

    2011-08-01

    Oculopalatal tremor is frequently accompanied by progressive ataxia. In symptomatic oculopalatal tremor the ataxia frequently is delayed in onset. Progressive ataxia is a defining clinical feature of superficial siderosis. We report 5 cases with palatal tremor and ataxia. Four cases had evidence of intraparenchymal hemosiderin deposition on T2-gradient-echo imaging. Three cases had a brainstem vascular malformation. In two cases the hemosiderin deposition was likely due to prior trauma. The significance of these associations and possible similarities between ataxia related to superficial siderosis and ataxia and intraparenchymal hemosiderin is discussed. Copyright © 2011 Elsevier Ltd. All rights reserved.

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

    International Nuclear Information System (INIS)

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

    1990-01-01

    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

  16. High-Flow Vascular Malformation in the Sigmoid Mesentery Successfully Treated with a Combination of Transarterial and Transvenous Embolization

    Energy Technology Data Exchange (ETDEWEB)

    Kamo, Minobu, E-mail: kamomino@luke.ac.jp; Yagihashi, Kunihiro [St. Luke’s International Hospital, Department of Radiology (Japan); Okamoto, Takeshi; Nakamura, Kenji; Fujita, Yoshiyuki [St. Luke’s International Hospital, Department of Gastroenterology (Japan); Kurihara, Yasuyuki [St. Luke’s International Hospital, Department of Radiology (Japan)

    2016-12-15

    Mesenteric high-flow vascular malformation can cause various clinical symptoms and demand specific therapeutic interventions owing to its peculiar hemodynamics. We report a case of high-flow vascular malformation in the sigmoid mesentery which presented with ischemic colitis. The main trunk of the inferior mesenteric vein was occluded. After partially effective transarterial embolization, transvenous embolization was performed using a microballoon catheter advanced to the venous component of the lesion via the marginal vein. Complete occlusion of the lesion was achieved. Combination of transarterial and transvenous embolization may allow us to apply endovascular treatment to a wider variety of high-flow lesions in the area and possibly avoid the bowel resection.

  17. CT and MR imaging features of oral and maxillofacial hemangioma and vascular malformation

    International Nuclear Information System (INIS)

    Kakimoto, Naoya; Tanimoto, Keiko; Nishiyama, Hideyoshi; Murakami, Shumei; Furukawa, Souhei; Kreiborg, Sven

    2005-01-01

    Purpose: To present CT and MR images and compare CT and MRI features of oral and maxillofacial hemangioma and vascular malformation. Material and methods: The clinical materials consisted of nine vascular tumors from nine patients examined by both CT and MR scanners between November 1996 and March 2002. Both CT and MR images were retrospectively evaluated. The following features were evaluated: detectability of the lesion, border of the lesion, tumor margin, inner nature of the lesion, contrast between the lesion and surrounding tissues, degree of CT value or signal intensity of the lesion, enhancement of contrast medium, inner nature of the lesion after contrast medium injection, detectability of phleboliths and detectability of bone resorption. Results: In two patients, we could not detect lesions in any of the CT images because of artifacts from the teeth and/or dental restorations. In contrast, we could detect all lesions on T2-weighted MR images and contrast enhanced T1-weighted MR images. On T2-weighted images with the fat suppression technique, tumors tended to show higher contrast compared to surrounding tissues. Conclusion: T2-weighted images with the fat suppression technique and contrast enhanced T1-weighted images with the fat suppression technique were very useful for the detection of vascular lesions. Observation from optional directions (axial, coronal and sagittal images) seemed appropriate for delineating the extension of the tumor. Phleboliths detectability on CT images was superior to that on MR images

  18. Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

    Directory of Open Access Journals (Sweden)

    Lončarević Olivera

    2016-01-01

    Full Text Available Introduction. Hereditary hemorrhagic telangiectasia (HHT also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor β (TGF-β. The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

  19. Pre- and postnatal MRI of the fetus with complex intracranial vascular malformation

    International Nuclear Information System (INIS)

    Blondin, D.; Turowski, B.; Moedder, U.; Schaper, J.

    2006-01-01

    Intracranial vascular malformations (IVM) on the whole occur in neonates very rarely. In such cases of IVM two different kinds can and must be discerned: (1) dural arteriovenous shunts (DAVS) and (2) vein of Galen aneurysmal malformations (VGAM). The latter seem to represent the majority of IVM of newborns. Several classifications are known for both types. Mortality of neonates and babies due to DAVS exceeds the average mortality from DAVS in adults. VGAM and DAVS can be diagnosed by prenatal ultrasonography only when the vessels behind the shunt are vasodilated because of the increasing flow stress. For that reason VGAM and DAVS are generally not recognized before the last trimenon or even postnatally. The prognosis of an IVM is influenced by the shunt capacity and its resulting cardiac stress as well as by the child's age. To plan the mostly interventional therapy, postnatal angiography (DSA) and MRI are employed and to an increasing extent also prenatal MRI examinations. We describe the case of a very complex IVM, the full dimensions of which could only be discerned by using pre- and postnatal MRI supplementary to the ultrasonography. Besides DAVS, flows from the pericallosal arteries as well as from the thalamic branches had to be considered. As a consequence DAVS and in addition VGAM existed in parallel. (orig.) [de

  20. Efficacy and safety of embolization in iatrogenic traumatic uterine vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Z.; Chen, J.; Shi, H.; Zhou, K.; Sun, H. [Department of Radiology, Peking Union Medical College Hospital, Beijing (China); Li, X., E-mail: pumch005@sina.com [Department of Radiology, Peking Union Medical College Hospital, Beijing (China); Pan, J.; Zhang, X.; Liu, W.; Yang, N.; Jin, Z. [Department of Radiology, Peking Union Medical College Hospital, Beijing (China)

    2012-06-15

    Aim: To retrospectively evaluate the efficacy of embolotherapy in patients with iatrogenic traumatic uterine arteriovenous malformations (AVMs). Materials and methods: A retrospective review of all patients who underwent uterine arterial embolization in Peking Union Medical College Hospital between January 2000 and December 2010 was performed. Forty-two patients were diagnosed with a uterine vascular malformation. All patients had obstetric manipulations before. Serial beta-human chorionic gonadotropin ({beta}-HCG) levels were measured to exclude gestational trophoblastic neoplasia. All patients underwent transcatheter embolization of bilateral uterine arteries. The complications, control of haemorrhage, and outcome of subsequent pregnancies were assessed. Results: A total of 49 embolization procedures were performed in 42 patients. Seven patients required repeated embolizations for recurrence of bleeding. The technical success rate of embolization was 100%. Bleeding was controlled in 35 of 42 patients (83%) after the first embolization procedures, and bleeding was controlled in another two patients who underwent repeat embolization at a median follow-up of 29 months (range 3 months to 5 years). The overall clinical success rate was 88% (37/42). Thirteen patients subsequently became pregnant and eight of 13 patients had uneventful intrauterine pregnancies carried to term. Seven patients had post-embolization syndrome and no other complication occurred. Conclusion: Percutaneous embolotherapy is a safe and effective treatment for traumatic AVMs. Future pregnancy is still possible after embolization.

  1. Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg

    NARCIS (Netherlands)

    Simmelink, Elisabeth K.; Rommers, Gerardus M.; Gardeniers, Jean W. M.; Zijlstra, Henk

    Background: The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Case description and methods: Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a

  2. Congenital vascular malformations - cerebral lesions differ from extracranial lesions by their immune expression of the glucose transporter protein GLUT1

    NARCIS (Netherlands)

    Meijer-Jorna, Lorine B.; Aronica, Eleonora; van der Loos, Chris M.; Troost, Dirk; van der Wal, Allard C.

    2012-01-01

    Background: Cerebral vascular malformations were investigated for the presence of the glucose transporter protein GLUT I, which is normally expressed in endothelial cells of the pre-existing microvasculature of the brain and absent in the vasculature of the choroid plexus and extracranial

  3. Aberrant Functional Connectivity and Structural Atrophy in Subcortical Vascular Cognitive Impairment: Relationship with Cognitive Impairments

    Directory of Open Access Journals (Sweden)

    Xia eZhou

    2016-02-01

    Full Text Available Abnormal structures in the cortical and subcortical regions have been identified in subcortical vascular cognition impairment (SVCI. However, little is known about the functional alterations in SVCI, and no study refers to the functional connectivity in the prefrontal and subcortical regions in this context. The medial prefrontal cortex (MPFC is an important region of the executive network and default mode network (DMN, and the subcortical thalamus plays vital roles in mediating or modulating these two networks. To investigate both thalamus- and MPFC-related functional connectivity as well as its relationship with cognition in SVCI, 32 SVCI patients and 23 control individuals were administered neuropsychological assessments. They also underwent structural and functional magnetic resonance imaging (MRI scans. Voxel-based morphometry (VBM and functional connectivity analysis were performed to detect gray matter (GM atrophy and to characterize the functional alterations in the thalamus and the MPFC. For structural data, we observed that GM atrophy was distributed in both cortical regions and subcortical areas. For functional data, we observed that the thalamus functional connectivity in SVCI was significantly decreased in several cortical regions (i.e., the orbitofrontal lobe (OFL, which are mainly involved in executive function and memory function. However, connectivity was increased in several frontal regions (i.e., the inferior frontal gyrus (IFG, which may be induced by the compensatory recruitment of the decreased functional connectivity. The MPFC functional connectivity was also decreased in executive- and memory-related regions (i.e., the anterior cingulate cortex (ACC along with a motor region (i.e., the supplementary motor region (SMA. In addition, the cognitive performance was closely correlated with functional connectivity between the left thalamus and the left OFL in SVCI. The present study thus provides evidence for an association

  4. Non-invasive magnetic resonance-guided high intensity focused ultrasound ablation of a vascular malformation in the lower extremity : a case report

    NARCIS (Netherlands)

    van Breugel, Marjolein; Nijenhuis, Robbert J; Ries, Mario G; Toorop, RJ; Vonken, EPA; Wijlemans, JW; van den Bosch, Maurice A A J

    2015-01-01

    INTRODUCTION: Therapy of choice for symptomatic vascular malformations consists of surgery, sclerotherapy, or embolization. However, these techniques are invasive with possible complications and require hospitalization. We present a novel non-invasive technique, i.e., magnetic resonance-guided

  5. Short-term side effects and patient-reported outcomes of bleomycin sclerotherapy in vascular malformations.

    Science.gov (United States)

    Mack, Joana M; Richter, Gresham T; Becton, David; Salem, Omar; Hill, Sarah E M; Crary, Shelley E

    2018-06-01

    Vascular malformations (VM) are congenital lesions that can be debilitating and cause significant aesthetic and functional limitations. The chemotherapeutic agent bleomycin has been utilized as a sclerosant, directly injected percutaneously into the VM. Unfortunately, little is known about the benefits and short-term side effects of bleomycin with intralesional injections. An IRB approved, retrospective chart review was performed on patients with VM who had been treated with intralesional bleomycin. Data included type of VM, number of treatments, total bleomycin dose per m², and adverse effects. A questionnaire was administered to available patients to assess subjective outcomes and side effects. Forty-six patients were treated with 141 procedures of bleomycin sclerotherapy for VM. Patient ages ranged from 1 to 20 years (median age 10 years). The median cumulative bleomycin dose was 16.3 units/m²/person (range of 1.7-97.0 units/m²/person). Sixty-three percent of patients were reached for a questionnaire to assess short-term side effects. Ninety percent of patients surveyed were satisfied to very satisfied with the results from the procedure. About 24% of patients experienced transient nausea, vomiting and/or local hyperpigmentation. Bleomycin sclerotherapy can be an effective treatment of VM with repeat exposure with minor risk of short-term side effects, however, long-term risks are of great concern. Further studies are required to assess systemic absorption and long-term risks. © 2018 Wiley Periodicals, Inc.

  6. Vein of Galen vascular malformations in infants: clinical, radiological and therapeutic aspect

    International Nuclear Information System (INIS)

    Borthne, A.; Carteret, M.; Baraton, J.; Courtel, J.V.; Brunelle, F.

    1997-01-01

    A series of 14 vein of Galen vascular malformations diagnosed in the pediatric populations and treated at the Hospital for Sick Children-Necker, Paris, between 1988 and 1994 is presented. Five of the patients were diagnosed in the neonatal period, of whom 4 presented with life-threatening, intractable cardiac decompensation and high-flow arteriovenous fistulae. Embolization was performed on vital indications in 4 patients during the first week after birth. One embolization failed with fatal outcome. Of the 3 who were embolized, 2 succumbed within 1 week and 1 survived with marked improvement of cardiac symptoms. The older children presented with hydrocephalus and neurologic symptoms. The 10 patients older than 1 year were embolized. These procedures were successful in 90%, with hemodynamic stabilization and improvement of clinical symptoms. In this group the mortality rate was 10%. The total mortality rate was 29%. Hydrocephalus was secondary to a compression of the Sylvian aqueduct in 44% of cases. Five patients had ventricular drainage before embolization followed by a staged elective embolization. Transarterial embolizations were performed in 11 patients, whereas 2 patients were embolized via the transvenous route. (orig.). With 5 figs., 4 tabs

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

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, Oriana S. [Yale Univ., New Haven, CT (United States); Deng, Hanqiang [Shanghai Jiao Tong Univ. School of Medicine (SJTU-SM), Shanghai (China); Liu, Dou [Yale Univ. School of Medicine, New Haven, CT (United States); Zhang, Ya [Yale Univ. School of Medicine, New Haven, CT (United States); Wei, Rong [Shanghai Jiao Tong Univ. School of Medicine (SJTU-SM), Shanghai (China); Deng, Yong [Yale Univ. School of Medicine, New Haven, CT (United States); Zhang, Fan [Yale Univ. School of Medicine, New Haven, CT (United States); Louvi, Angeliki [Yale Univ. School of Medicine, New Haven, CT (United States); Turk, Benjamin E. [Yale Univ., New Haven, CT (United States); Boggon, Titus J. [Yale Univ., New Haven, CT (United States); Su, Bing [Shanghai Jiao Tong Univ. School of Medicine (SJTU-SM), Shanghai (China)

    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.

  8. THERAPY OF SKIN VASCULAR MALFORMATIONS USING COPPER VAPOR LASER AND PULSED DYE LASER

    Directory of Open Access Journals (Sweden)

    Svetlana V. Klyuchareva

    2018-01-01

    Full Text Available Aim. Comparison of effectiveness of the application of copper vapor laser (CVL and pulsed dye laser (PDL in clinical practice. Development of choice criteria of the more effective method of treatment.Materials and methods. The clinical data using CVL and PDL in the treatment of skin vascular malformations are presented. The treatment gave good results in removing of dysplastic skin vessels in 2 and 6 months. The treatment was not painful, and patients did not need general and local anesthesia. The results were presented concerning computer modeling of selective heating of vessels in tissue with CVL and PDL radiation. These results allowed to determine the depth of location and dimensions of vessels for selective and secure removing and the safe dosage ranges were found.Results. On the base of the calculated data, one could conclude that the mode of heating of dysplastic vessels with micropulse series of CVL is more safe and effective than the mode of powerful short pulses in the case of PDL.

  9. A "blind" vascular ring in association with congenital cystic adenomatoid malformation: A case report.

    Science.gov (United States)

    Xia, Bo; Hong, Chun; Tang, Jing; Liu, Cuifen; Yu, Gang

    2017-12-01

    The occurrence of congenital cystic adenomatoid malformation (CCAM) and vascular ring (VR) is extremely rare. We present a case of left CCAM with VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. A high-risk male neonate with the diagnosis of left CCAM was diagnosed at 20 weeks gestational age by antenatal ultrasound. Chest CT revealed multiple cysts in the left inferior lung. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. left inferior lobectomy was performed. Cardiac CT showed VR consisting of a left aortic arch and right descending aorta with left tracheal compression causing atelectasis. Descending aorta transposition was performed. The patient recovered smoothly and remained asymptomatic during the 12-months of postoperative follow-up period. We report this rare case of CCAM with VR consisting of left aortic arch and right descending aorta with left tracheal compression causing atelectasis. From the findings of this report, early surgical treatment is recommended. Although the prognosis after surgery remained good, second surgery can be avoided if VR was detected early. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  10. Vein of Galen vascular malformations in infants: clinical, radiological and therapeutic aspect

    Energy Technology Data Exchange (ETDEWEB)

    Borthne, A. [Department of Pediatric Radiology, Ullevaal University Hospital, N-0407 Oslo (Norway); Carteret, M.; Baraton, J.; Courtel, J.V.; Brunelle, F. [Department of Pediatric Radiology, University Paris V, Hopital Necker-Enfants-Malades, 149, rue de Sevres, F-75 743 Paris Cedex 15 (France)

    1997-10-01

    A series of 14 vein of Galen vascular malformations diagnosed in the pediatric populations and treated at the Hospital for Sick Children-Necker, Paris, between 1988 and 1994 is presented. Five of the patients were diagnosed in the neonatal period, of whom 4 presented with life-threatening, intractable cardiac decompensation and high-flow arteriovenous fistulae. Embolization was performed on vital indications in 4 patients during the first week after birth. One embolization failed with fatal outcome. Of the 3 who were embolized, 2 succumbed within 1 week and 1 survived with marked improvement of cardiac symptoms. The older children presented with hydrocephalus and neurologic symptoms. The 10 patients older than 1 year were embolized. These procedures were successful in 90%, with hemodynamic stabilization and improvement of clinical symptoms. In this group the mortality rate was 10%. The total mortality rate was 29%. Hydrocephalus was secondary to a compression of the Sylvian aqueduct in 44% of cases. Five patients had ventricular drainage before embolization followed by a staged elective embolization. Transarterial embolizations were performed in 11 patients, whereas 2 patients were embolized via the transvenous route. (orig.). With 5 figs., 4 tabs.

  11. Periodontal growth in areas of vascular malformation in patients with Sturge-Weber syndrome: a management protocol.

    Science.gov (United States)

    Pontes, Flávia Sirotheau Corrêa; Conte Neto, Nicolau; da Costa, Rodrigo Moreira Bringel; Loureiro, Arlison Miranda; do Nascimento, Liliane Silva; Pontes, Hélder Antônio Rebelo

    2014-01-01

    Sturge-Weber syndrome (SWS) is a very rare condition characterized by abnormal vascular formations that encompass several manifestations: cutaneous, neurologic, ocular, and oral. Neurologic conditions are the most important factor, especially epilepsy, which frequently leads patients to make use of anticonvulsants. These drugs are capable of inducing abnormal tissue growth in the oral cavity that can be situated over areas with vascular malformation, requiring special attention by the clinician. This report describes 1 case of SWS and performs a literature review of treatments for this condition, providing a protocol of treatment for these clinical situations.

  12. Diode laser to treat small oral vascular malformations: A prospective case series study.

    Science.gov (United States)

    Bacci, Christian; Sacchetto, Luca; Zanette, Gastone; Sivolella, Stefano

    2018-02-01

    The current work examined a consecutive series of patients presenting vascular malformations (VMs) and venous lakes (VLs) of the lip and oral mucosa who were treated with transmucosal diode laser applications and assessed over a 1 year period. Fifty-nine patients (31 males and 28 females) presenting low-flow VMs or VLs of the oral cavity were treated transmucosally using a diode laser (with an 830 nm operating wavelength and 1.6 W output power) with a 320 µm diameter flexible fiber. All the lesions were assessed 7 days, 30 days, and 1 year after the laser treatment, and the lesion reduction percentage was scored on a one to five scale. The patients were also asked to assess their pain perception daily during the 7 days following the treatment using a visual analog scale (VAS). There were no procedure-related intra- or post-operative complications; only modest pain intensity was reported. Thirty days after the treatment, lesion reduction was described as excellent or good in 52 cases; it was fair or poor in 7. Six patients (F:M ratio 2:4) required a second diode laser application. At the 1 year follow-up, volume reduction was complete in 48 out of 59 patients; there were five recurrences (F:M ratio 3:2). No relevant gender-related differences were noted. The use of diode laser application to treat small oral VMs and VLs was associated to shorter operating times and fewer postoperative complications with respect to the scapel surgery approach. More than one session may nevertheless be required if the anomaly is larger than 10 mm. Lasers Surg. Med. 50:111-116, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  13. Psychological comorbidities and compliance to interventional treatment of patients with cutaneous vascular malformations.

    Science.gov (United States)

    Kenny, Stephanie A; Majeed, Nevin; Zhand, Naista; Glikstein, Rafael; Agid, Ronit; Dos Santos, Marlise P

    2016-08-01

    The aim of this study was to assess qualitatively the psychological stressors affecting patients with cutaneous vascular malformations and hemangiomas (CVM-H) and their impact on compliance to interventional treatment. A retrospective chart review was conducted of all patients with CVM-H treated by interventional neuroradiology at a single academic institution during a five-year period (2009-2014). Psychological complaints were documented during each clinic visit by a neuroradiologist. Compliance to interventional treatment was defined by adherence to the scheduled treatment sessions. Fisher's exact test was used to assess for associations between psychological complaints and compliance. Seventy-five patients were assessed, of whom 49 (65.3%) were female, with an age range of 2-78 years (mean age 30.2 years). All except one patient older than seven years of age (n = 71; 94.6%) had a psychological complaint, including fear of negative appearance (n = 53; 70.6%), dissatisfaction with appearance (n = 46; 61.3%), low self-esteem (n = 35; 46.6%), anxiety (n = 16; 21.3%), stress (n = 13; 17.3%), bullying (n = 5; 6.6%), and low mood (n = 4; 5.3%). Twenty-three (31%) patients were non-compliant. Low self-esteem was significantly associated with non-compliance (p = 0.0381). There is a high prevalence of psychological comorbidities among patients treated for CVM-H. This has potential implications for interventional treatment, as it was found that low self-esteem is significantly associated with non-compliance. These results suggest the need for early psychological support in these patients in order to maximize compliance to interventional treatment. © The Author(s) 2016.

  14. Pulmonary Arteriovenous Malformations Embolized Using a Micro Vascular Plug System: Technical Note on a Preliminary Experience

    Energy Technology Data Exchange (ETDEWEB)

    Boatta, Emanuele, E-mail: emanuele.boatta@yahoo.it; Jahn, Christine, E-mail: christine.jahn@chru-strasbourg.fr [Hôpitaux Universitaires de Strasbourg, Service de Imagerie Interventionelle, Nouvel Hôpital Civil (France); Canuet, Matthieu, E-mail: matthieu.canuet@chru-strasbourg.fr [Hôpitaux Universitaires de Strasbourg, Service Service de Pneumologie, Nouvel Hôpital Civil (France); Garnon, Julien, E-mail: juleiengarnon@gmail.com [Hôpitaux Universitaires de Strasbourg, Service de Imagerie Interventionelle, Nouvel Hôpital Civil (France); Ramamurthy, Nitin, E-mail: nitin-ramamurthy@hotmail.com [Norfolk and Norwich University Hospital, Department of Radiology (United Kingdom); Cazzato, Roberto Luigi, E-mail: gigicazzato@hotmail.it; Gangi, Afshin, E-mail: gangi@unistra.fr [Hôpitaux Universitaires de Strasbourg, Service de Imagerie Interventionelle, Nouvel Hôpital Civil (France)

    2017-02-15

    AIMTo report our preliminary experience using a Micro Vascular Plug (MVP) deployed through a 2.8Fr micro-catheter for the treatment of pulmonary arteriovenous malformations (PAVMs) in a cohort of patients affected by Hereditary Haemorrhagic Telangiectasia (HHT).Materials and MethodsFour consecutive female patients (mean age 38.0 years; range 25–55 years) with PAVMs diagnosed on echocardiogram/bubble test and contrast-enhanced CT (CECT) underwent MVP embolization. One patient was symptomatic with recent transient ischaemic attack. Follow-up was undertaken at 1-month post-procedure with CECT to assess PAVMs permeability and MVP positioning and at 1-, 6-, and 12-month post-procedure, with echocardiography/bubble test and standard neurological history, to confirm absence of right-to-left shunts and recurrent symptoms.ResultsEight PAVMs were treated in 4 patients over 5 interventional sessions (mean 1.6 PAVMs per session). All PAVMs were simple, with mean feeding artery diameter of 4.25 mm. Eight 6.5 mm MVPs were deployed in total (one per lesion). Technical success was 100%. Mean procedural time and patient dose per session were 70 min (range 40–70 min) and 53418 mGy.cm{sup 2} (range 6113–101628 mGy.cm{sup 2}), respectively. No signs of reperfusion neither of MPV migration were noted at 1-month CECT follow-up. At early follow-up (mean 3.75 months; range 1–12 months), clinical success was 100% with no evidence of recurrent right-to-left shunt, and no neurological symptoms. No immediate or late complications were observed.ConclusionsMVP embolization of PAVMs appears technically feasible, safe, and effective at early follow-up. Further prospective studies are required to confirm long-term safety and efficacy of this promising technique.

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

    Science.gov (United States)

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

    2013-12-01

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

  16. Balloon-Occluded Retrograde Transvenous Obliteration of a Gastric Vascular Malformation: An Innovative Approach to Treatment of a Rare Condition

    Energy Technology Data Exchange (ETDEWEB)

    Hansing, Catherine E., E-mail: catherine.e.hansing.mil@mail.mil [Naval Medical Center Portsmouth, Transitional Year/Graduate Medical Education Department, Medical Corps, United States Navy (United States); Marquardt, Joseph P.; Sutton, Daniel M.; York, John D. [Naval Medical Center Portsmouth, Radiology Department, Medical Corps, United States Navy (United States)

    2017-02-15

    Arteriovenous malformations (AVMs) are a high-flow form of a vascular malformation, which can be found anywhere in the body. While historically treated surgically, a multidisciplinary approach utilizing multiple specialties and treatment modalities is now commonly employed. In order to effectively treat an AVM, the nidus must be targeted and eradicated, which can be done via multiple approaches. We present the case of a 43-year-old male with a gastric wall AVM, which was initially incompletely treated using a percutaneous transarterial approach. The gastric AVM was noted to have dominant drainage through a gastrorenal shunt; therefore, Balloon-occluded Retrograde Transvenous Obliteration (BRTO) was utilized to eradicate the AVM nidus. This case illustrates the utility of Interventional Radiology, specifically BRTO, as another treatment option for challenging AVMs.

  17. Malformación vascular intraósea en el maxilar que se presenta en forma de sangrado gingival Intra-osseous vascular malformation in the maxilla

    Directory of Open Access Journals (Sweden)

    Naveenjayakumar

    2009-12-01

    Full Text Available Las malformaciones arterio-venosas intraóseas (MAVs en la región maxilofacial son entidades clínicas poco frecuentes. Ofrecen una amplia gama de presentación clínica y no siempre se diagnostican sin sorpresa. El tratamiento de estas lesiones siempre ha representado un reto para el cirujano debido a su intensa vascularización y a la elevada incidencia de recurrencia. Se presenta el caso de una malformación arterio-venosa intraósea en el maxilar superior que se manifiesta como sangrado gingival, cuyos exámenes radiológicos de rutina no fueron concluyentes. Se llevó a cabo la excisión quirúrgica y el empaquetado del hueso con cera, y se realizó el seguimiento del paciente durante 1 año sin que se produjera recurrencia. Las malformaciones vasculares deben tenerse en consideración en el diagnóstico diferencial del sangrado gingival con radiografías dentales no concluyentes.Intraosseous arterio-venous malformations (AVM in the maxillofacial region are rare clinical entities. They have a wide range of clinical presentation and are not always diagnosed without a surprise. Treatment of these lesions has always been a challenge to the surgeon due to extreme vascularity and the high recurrence rate. The case presented is that of an intraosseous arterio-venous malformation in the maxilla that started as gingival bleeding and routine radiographic examinations were inconclusive. Surgical excision and bone wax packing was performed there were no recurrences during 1-year of follow-up. Vascular malformations may be considered in differential diagnosis of gingival bleeding with inconclusive dental radiographs.

  18. Achados de imagem e alternativas terapêuticas das malformações vasculares periféricas Imaging findings and therapeutic alternatives for peripheral vascular malformations

    Directory of Open Access Journals (Sweden)

    Lucas Moretti Monsignore

    2010-06-01

    Full Text Available As malformações vasculares periféricas compreendem um espectro de lesões que se tornam aparentes no decorrer da vida e podem ser encontradas em praticamente todo o corpo. São pouco comuns e frequentemente confundidas com o hemangioma infantil. Estas doenças são completamente distintas tanto em relação à história clínica como ao prognóstico e às formas de tratamento. Nestas lesões, a história evolutiva e as características do exame físico são de extrema importância para o adequado diagnóstico clinicorradiológico, que guiará a melhor alternativa terapêutica. As classificações mais recentes dividem as malformações vasculares periféricas levando em consideração o fluxo sanguíneo (alto e baixo e os componentes vasculares envolvidos (arteriais, capilares, linfáticos e venosos. As malformações vasculares periféricas representam um desafio diagnóstico e terapêutico, e exames complementares como tomografia computadorizada, ultrassonografia com Doppler e ressonância magnética, em conjunto com a história clínica, podem trazer informações quanto às características de fluxo e à extensão das lesões. Arteriografia e flebografia confirmam o diagnóstico, avaliam a sua extensão e orientam a decisão terapêutica. Malformações de baixo fluxo geralmente são tratadas por abordagem percutânea e injeção de agente esclerosante, enquanto para as malformações de alto fluxo o acesso é endovascular com uso de agentes embolizantes permanentes líquidos ou sólidos.Peripheral vascular malformations represent a spectrum of lesions that appear through the lifetime and can be found in the whole body. Such lesions are uncommon and are frequently confounded with infantile hemangioma, a common benign neoplastic lesion. In the presence of such lesions, the correlation between the clinical and radiological findings is extremely important to achieve a correct diagnosis, which will guide the best therapeutic approach. The

  19. Early diagnosis of congenital vascular malformation as a condition to rapid prevention of complications – case study

    OpenAIRE

    Dominika Jaguś; Agata Rutkowska; Paweł Wareluk

    2017-01-01

    Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was ad...

  20. Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg.

    Science.gov (United States)

    Simmelink, Elisabeth K; Rommers, Gerardus M; Gardeniers, Jean W M; Zijlstra, Henk

    2014-04-01

    The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a normal socket fitting process was not possible. Using a multidisciplinary approach, a prosthesis was designed to enable full weight bearing in a flexed knee position with ischial tuberosity support to prevent full weight bearing on the tibial part of the stump. After training and adjustments to the design, a definitive prosthesis with a free motion mechanical knee joint could be used. During the training with this prosthesis, no skin problems were observed, and at the end of the rehabilitation, the patient had a high level of activities of daily living and sports. The above prosthetic solution with an adjusted socket design proved to be successful in this case. Clinical relevance In a patient with severe congenital vascular malformation deformity leading to a transtibial amputation, fitting of a good prosthesis without full weight bearing of the stump proved to be successful.

  1. Cone-beam CT: an additional imaging tool in the interventional treatment and management of low-flow vascular malformations.

    Science.gov (United States)

    Lightfoot, Christopher B; Ju, Yang; Dubois, Josée; Abdolell, Mohamed; Giroux, Marie-France; Gilbert, Patrick; Therasse, Eric; Oliva, Vincent; Soulez, Gilles

    2013-07-01

    To evaluate the impact of cone-beam computed tomography (CT) during sclerotherapy of low-flow vascular malformations. Eighty-seven cone-beam CT examinations were acquired during 81 sclerotherapy treatments of low-flow malformations in 48 patients: 81 were performed to evaluate sclerosing agent diffusion and six were performed to evaluate needle or catheter positioning before injection of therapeutic agent. Image quality was rated by two observers. Clinical impact of cone-beam CT in the assessment of therapeutic agent diffusion, needle or catheter positioning, subsequent treatment planning, and complication detection was evaluated. The κ-statistic was used to assess interobserver reliability and proportions, with associated 95% confidence intervals (CIs). All cone-beam CT images were successfully acquired. Image quality was rated as excellent or good for the majority of studies, with substantial interobserver reliability (κ = 0.648). Cone-beam CT studies improved assessment of therapeutic agent diffusion in 83% of cases (67 of 81; 95% CI, 75%-91%) for observer 1, who had access to ultrasound, fluoroscopic, and digital subtraction angiographic (DSA) imaging, and in 95% of cases (77 of 81; 95% CI, 90%-100%) for observer 2, who had access to only stored fluoroscopic spot radiographs and DSA images. Cone-beam CT impacted planning of the next treatment session in 49% of cases (40 of 81; 95% CI, 38%-60%). In 7% of cases (six of 81; 95% CI, 1%-13%), complications such as migration of therapeutic agent or compression of upper airways were detected that were not seen with other imaging. Cone-beam CT can be a useful adjunctive imaging tool, providing information to help decision-making during percutaneous sclerotherapy and ongoing management of low-flow vascular malformations. Copyright © 2013 SIR. Published by Elsevier Inc. All rights reserved.

  2. Time-resolved magnetic resonance angiography (MRA) at 3.0 Tesla for evaluation of hemodynamic characteristics of vascular malformations: description of distinct subgroups.

    Science.gov (United States)

    Hammer, Simone; Uller, Wibke; Manger, Florentine; Fellner, Claudia; Zeman, Florian; Wohlgemuth, Walter A

    2017-01-01

    Quantitative evaluation of hemodynamic characteristics of arteriovenous and venous malformations using time-resolved magnetic resonance angiography (MRA) at 3.0 Tesla. Time-resolved MRA with interleaved stochastic trajectories (TWIST) at 3.0 Tesla was studied in 83 consecutive patients with venous malformations (VM) and arteriovenous malformations (AVM). Enhancement characteristics were calculated as percentage increase of signal intensity above baseline over time. Maximum percentage signal intensity increase (signal max ), time intervals between onset of arterial enhancement and lesion enhancement (t onset ), and time intervals between beginning of lesion enhancement and maximum percentage of lesion enhancement (t max ) were analyzed. All AVMs showed a high-flow hemodynamic pattern. Two significantly different (p Tesla provides hemodynamic characterization of vascular malformations. VMs can be subclassified into two hemodynamic subgroups due to presence or absence of AVFs. • Time-resolved MRA at 3.0 Tesla provides quantitative hemodynamic characterization of vascular malformations. • Malformations significantly differ in time courses of enhancement and signal intensity increase. • AVMs show a distinctive high-flow hemodynamic pattern. • Two significantly different types of VMs emerged: VMs with and without AVFs.

  3. Analysis of 30 Spinal Angiograms Falsely Reported as Normal in 18 Patients with Subsequently Documented Spinal Vascular Malformations.

    Science.gov (United States)

    Barreras, P; Heck, D; Greenberg, B; Wolinsky, J-P; Pardo, C A; Gailloud, P

    2017-09-01

    The early diagnosis of spinal vascular malformations suffers from the nonspecificity of their clinical and radiologic presentations. Spinal angiography requires a methodical approach to offer a high diagnostic yield. The prospect of false-negative studies is particularly distressing when addressing conditions with a narrow therapeutic window. The purpose of this study was to identify factors leading to missed findings or inadequate studies in patients with spinal vascular malformations. The clinical records, laboratory findings, and imaging features of 18 patients with spinal arteriovenous fistulas and at least 1 prior angiogram read as normal were reviewed. The clinical status was evaluated before and after treatment by using the Aminoff-Logue Disability Scale. Eighteen patients with 19 lesions underwent a total of 30 negative spinal angiograms. The lesions included 9 epidural arteriovenous fistulas, 8 dural arteriovenous fistulas, and 2 perimedullary arteriovenous fistulas. Seventeen patients underwent endovascular (11) or surgical (6) treatment, with a delay ranging between 1 week and 32 months; the Aminoff-Logue score improved in 13 (76.5%). The following factors were identified as the causes of the inadequate results: 1) lesion angiographically documented but not identified (55.6%); 2) region of interest not documented (29.6%); or 3) level investigated but injection technically inadequate (14.8%). All the angiograms falsely reported as normal were caused by correctible, operator-dependent factors. The nonrecognition of documented lesions was the most common cause of error. The potential for false-negative studies should be reduced by the adoption of rigorous technical and training standards and by second opinion reviews. © 2017 by American Journal of Neuroradiology.

  4. Shared Decision-Making in the Management of Congenital Vascular Malformations

    NARCIS (Netherlands)

    Horbach, S.E.; Ubbink, D.T.; Stubenrouch, F.E.; Koelemay, M.J.; Vleuten, C.J.M. van der; Verhoeven, B.H.; Reekers, J.A.; Schultze Kool, L.J.; Horst, C.M. van der

    2017-01-01

    BACKGROUND: In shared decision-making, clinicians and patients arrive at a joint treatment decision, by incorporating best available evidence and the patients' personal values and preferences. Little is known about the role of shared decision-making in managing patients with congenital vascular

  5. Diagnostic dilemma in vascular mal-formation of the upper lip: a ...

    African Journals Online (AJOL)

    richard

    2014-09-08

    Sep 8, 2014 ... 1Department of Oral and Maxillofacial Surgery, College of Medicine, Lagos University Teaching. Hospital, Lagos. ... such as CT and MRI angiograms may be helpful in determining the extent, exact location and flow ... To present a case of vascular lesion on the upper lip and its management. Methods: We ...

  6. Proteus Syndrome with Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Ali Asilian

    2017-01-01

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

  7. Multiple focal nodular hyperplasia of the liver associated with hemihypertrophy and vascular malformations.

    Science.gov (United States)

    Haber, M; Reuben, A; Burrell, M; Oliverio, P; Salem, R R; West, A B

    1995-04-01

    A case of multiple focal nodular hyperplasia of the liver occurring in a 22-year-old woman with musculoskeletal hemihypertrophy and anomalous vascular supply to the liver is described. The patient had Klippel-Trénaunay-Weber syndrome and abdominal pain and tender massive hepatomegaly. Visceral angiography showed marked dilatation of the celiac axis and both the main trunk and peripheral branches of the hepatic artery. Large abdominal veins drained from the dome of the liver into the hepatic veins. The vascular anomalies were evident on contrast-enhanced computed tomography and magnetic resonance imaging. Multiple focal nodular hyperplasia was confirmed by laparoscopic liver biopsy. The findings in this patient support the concept that multiple focal nodular hyperplasia characteristically occurs in a syndromic form and is induced by an irregular arterial supply in the liver, with localized hyperfusion that leads to nodular areas of hepatocyte hyperproliferation.

  8. Transcatheter Arterial Embolization with n-Butyl Cyanoacrylate for the Treatment of Acquired Uterine Vascular Malformations

    Energy Technology Data Exchange (ETDEWEB)

    Picel, Andrew C., E-mail: apicel@ucsd.edu [University of California, San Diego, Department of Radiology (United States); Koo, Sonya J. [University of Texas Southwestern Medical Center, Department of Radiology (United States); Roberts, Anne C. [University of California, San Diego, Department of Radiology (United States)

    2016-08-15

    PurposeThe purpose of the study was to evaluate the technique and outcomes of transcatheter arterial embolization (TAE) with n-butyl cyanoacrylate (NBCA) for the treatment of acquired uterine arteriovenous malformations (AVMs).Materials and methodsA retrospective review identified five women treated for suspected acquired uterine AVMs with TAE at our institution. Four women (80 %) presented with heavy or intermittent vaginal bleeding after obstetric manipulation. One woman (20 %) was treated for an incidental AVM discovered on ultrasound after an uncomplicated cesarean section. Three women underwent one embolization procedure and two women required two procedures. Embolization material included NBCA in six procedures (80 %) and gelatin sponge in one procedure (20 %).ResultsEmbolization resulted in angiographic stasis of flow in all seven procedures. Four women (80 %) presented with vaginal bleeding which was improved after treatment. One woman returned 24 days after unilateral embolization with recurrent bleeding, which resolved after retreatment. One woman underwent two treatments for an asymptomatic lesion identified on ultrasound. There were no major complications. Three women (60 %) experienced mild postembolization pelvic pain that was controlled with non-steroidal anti-inflammatory drugs. Three women (60 %) had pregnancies and deliveries after embolization.ConclusionsTAE is a safe alternative to surgical therapy for acquired uterine AVMs with the potential to maintain fertility. Experience from this case series suggests that NBCA provides predictable and effective occlusion.

  9. Transcatheter Arterial Embolization with n-Butyl Cyanoacrylate for the Treatment of Acquired Uterine Vascular Malformations

    International Nuclear Information System (INIS)

    Picel, Andrew C.; Koo, Sonya J.; Roberts, Anne C.

    2016-01-01

    PurposeThe purpose of the study was to evaluate the technique and outcomes of transcatheter arterial embolization (TAE) with n-butyl cyanoacrylate (NBCA) for the treatment of acquired uterine arteriovenous malformations (AVMs).Materials and methodsA retrospective review identified five women treated for suspected acquired uterine AVMs with TAE at our institution. Four women (80 %) presented with heavy or intermittent vaginal bleeding after obstetric manipulation. One woman (20 %) was treated for an incidental AVM discovered on ultrasound after an uncomplicated cesarean section. Three women underwent one embolization procedure and two women required two procedures. Embolization material included NBCA in six procedures (80 %) and gelatin sponge in one procedure (20 %).ResultsEmbolization resulted in angiographic stasis of flow in all seven procedures. Four women (80 %) presented with vaginal bleeding which was improved after treatment. One woman returned 24 days after unilateral embolization with recurrent bleeding, which resolved after retreatment. One woman underwent two treatments for an asymptomatic lesion identified on ultrasound. There were no major complications. Three women (60 %) experienced mild postembolization pelvic pain that was controlled with non-steroidal anti-inflammatory drugs. Three women (60 %) had pregnancies and deliveries after embolization.ConclusionsTAE is a safe alternative to surgical therapy for acquired uterine AVMs with the potential to maintain fertility. Experience from this case series suggests that NBCA provides predictable and effective occlusion.

  10. Prevalence of oral hemangioma, vascular malformation and varix in a Brazilian population Prevalência de hemangioma, malformação vascular e variz de boca numa população brasileira

    Directory of Open Access Journals (Sweden)

    Priscila Henriques Corrêa

    2007-03-01

    Full Text Available Hemangioma, vascular malformation and varix are benign vascular lesions, common in the head and neck regions. Studies about the prevalence of these lesions in the oral cavity are scarce. The aim of this study was to estimate the prevalence of and to obtain clinical data on oral hemangioma, vascular malformation and varix in a Brazilian population. Clinical data on those lesions were retrieved from the clinical forms from the files of the Oral Diagnosis Service, School of Dentistry, Federal University of Minas Gerais, Brazil, from 1992 to 2002. Descriptive analysis was performed. A total of 2,419 clinical forms in the 10-year period were evaluated, of which 154 (6.4% cases were categorized as oral hemangioma, oral vascular malformation or oral varix. Oral varix was the most frequent lesion (65.6%. Females had more oral hemangioma and oral varix than males. Oral vascular malformation and oral varix were more prevalent in the 7th and 6th decades, respectively. Oral hemangioma and oral varix were more prevalent in the ventral surface of the tongue and oral vascular malformation, in the lips. Oral hemangioma was treated with sclerotherapy (54.5%, and vascular malformation was managed with sclerotherapy and surgery (19.4% each. The data of this study suggests that benign vascular lesions are unusual alterations on the oral mucosa and jaws.Hemangioma, malformação vascular e variz são lesões vasculares benignas comuns na região de cabeça e pescoço. Estudos sobre a prevalência dessas lesões em boca são escassos. O objetivo deste estudo foi estimar a prevalência e realizar um levantamento de dados clínicos de hemangioma, malformação vascular e variz de boca. Dados clínicos dessas lesões foram consultados em fichas clínicas do arquivo do Serviço de Diagnóstico Oral da Universidade Federal de Minas Gerais, Brasil, no período de 1992 a 2002. Uma análise descritiva foi realizada. Foram obtidas neste período de 10 anos 2.419 fichas cl

  11. Focal nodular hyperplasia in a child with hemihypertrophy and multiple cutaneous vascular malformations.

    Science.gov (United States)

    Al-Attar, M; Verma, R; Shannon, R S; McKeever, P A; Rickett, A

    2004-03-01

    A case of focal nodular hyperplasia of the liver occurring in a 9-year-old girl with musculoskeletal hemihypertrophy and multiple cutaneous capillary haemangiomata is described. The child presented because of limb length discrepancy and was found to have a large mass in the liver. Imaging showed a mass of similar characteristics to normal liver tissue. Prominent vascular supply to the liver was also seen. We present this case to emphasize the important diagnosis of focal nodular hyperplasia, which may occur in syndromic form in children with typical cutaneous and skeletal manifestations.

  12. Time-resolved magnetic resonance angiography (MRA) at 3.0 Tesla for evaluation of hemodynamic characteristics of vascular malformations: description of distinct subgroups

    Energy Technology Data Exchange (ETDEWEB)

    Hammer, Simone; Fellner, Claudia; Wohlgemuth, Walter A. [University Hospital Regensburg, Department of Radiology, Regensburg (Germany); Uller, Wibke [Boston Children' s Hospital and Harvard Medical School, Division of Vascular and Interventional Radiology, Boston, MA (United States); University Hospital Regensburg, Department of Radiology, Regensburg (Germany); Manger, Florentine [University Hospital Wuerzburg, Department of Nuclear Medicine, Wuerzburg (Germany); Zeman, Florian [University Hospital Regensburg, Center for Clinical Trials, Regensburg (Germany)

    2017-01-15

    Quantitative evaluation of hemodynamic characteristics of arteriovenous and venous malformations using time-resolved magnetic resonance angiography (MRA) at 3.0 Tesla. Time-resolved MRA with interleaved stochastic trajectories (TWIST) at 3.0 Tesla was studied in 83 consecutive patients with venous malformations (VM) and arteriovenous malformations (AVM). Enhancement characteristics were calculated as percentage increase of signal intensity above baseline over time. Maximum percentage signal intensity increase (signal{sub max}), time intervals between onset of arterial enhancement and lesion enhancement (t{sub onset}), and time intervals between beginning of lesion enhancement and maximum percentage of lesion enhancement (t{sub max}) were analyzed. All AVMs showed a high-flow hemodynamic pattern. Two significantly different (p < 0.001) types of venous malformations emerged: VMs with arteriovenous fistulas (AVF) (median signal{sub max} 737 %, IQR [interquartile range] = 511 - 1182 %; median t{sub onset} 5 s, IQR = 5 - 10 s; median t{sub max} 35 s, IQR = 26 - 40 s) and without AVFs (median signal{sub max} 284 %, IQR = 177-432 %; median t{sub onset} 23 s, IQR = 15 - 30 s; median t{sub max} 60 s, IQR = 55 - 75 s). Quantitative evaluation of time-resolved MRA at 3.0 Tesla provides hemodynamic characterization of vascular malformations. VMs can be subclassified into two hemodynamic subgroups due to presence or absence of AVFs. (orig.)

  13. Percutaneous occlusion of vascular malformations in pediatric and adult patients: 20-year experience of a single center.

    Science.gov (United States)

    Pereira-da-Silva, Tiago; Martins, José Diogo; de Sousa, Lídia; Fiarresga, António; Trigo Pereira, Conceição; Cruz Ferreira, Rui; Ferreira Pinto, Fátima

    2016-02-01

    A case series on different vascular malformations (VM) treated with percutaneous occlusion in children and adults is presented. Percutaneous occlusion is usually the preferred treatment method for VM. Previous series have mostly focused on single types of devices and/or VM. Retrospective analysis of all patients who underwent percutaneous occlusion of VM in a single center, from 1995 to 2014, excluding patent ductus arteriosus. Clinical and angiographic data, procedural details, implanted devices, and complications were assessed. Procedural success was defined as effective device deployment with none or minimal residual flow. Predictors of procedural failure and complications were determined by multivariate analysis. A total of 123 VM were intervened in 47 patients with median age of 12 years (25 days-76 years). The VM included 55 pulmonary arteriovenous fistulae, 39 aortopulmonary collaterals, 10 systemic venovenous collaterals, 8 peripheral arteriovenous fistulae, 5 Blalock-Taussig shunts, 4 coronary fistulae, and 2 Fontan fenestrations. The 143 devices used included 80 vascular plugs, 38 coils, 22 duct occluders, and 3 foramen ovale or atrial septal defect occluders. Median vessel size was 4.5 (2.0-16.0) mm and device/vessel size ratio was 1.4 (1.1-2.0). Successful occlusion was achieved in 118 (95.9%) VM, including three reinterventions. Four (3.3%) clinically relevant complications occurred, without permanent sequelae. Lower body weight was independently associated with procedural failure and complications. To our knowledge, this is the largest series on different VM occluded percutaneously in children and adults, excluding patent ductus arteriosus. Percutaneous occlusion was effective and safe, using different devices. © 2015 Wiley Periodicals, Inc.

  14. Evaluation of intra-aortic CT angiography performances for the visualisation of spinal vascular malformations' angioarchitecture

    Energy Technology Data Exchange (ETDEWEB)

    Clarencon, Frederic; Gabrieli, Joseph; Chiras, Jacques [Pitie-Salpetriere Hospital, Department of Interventional Neuroradiology, Paris (France); Paris VI University, Pierre et Marie Curie University, Paris (France); Di Maria, Federico; Sourour, Nader-Antoine; Shotar, Eimad; Cormier, Evelyne; Fahed, Robert [Pitie-Salpetriere Hospital, Department of Interventional Neuroradiology, Paris (France); Nouet, Aurelien [Pitie-Salpetriere Hospital, Department of Neurosurgery, Paris (France); Cornu, Philippe [Paris VI University, Pierre et Marie Curie University, Paris (France); Pitie-Salpetriere Hospital, Department of Neurosurgery, Paris (France)

    2016-10-15

    To evaluate the performances of the CT-angiography by direct intra-aortic contrast media injection (IA-CTA) for spinal vascular malformations (SVMs)' imaging. Thirteen patients (8 males, 5 females, mean age: 56 y) with suspected SVM underwent IA-CTAs by direct intra-aortic iodinated contrast media injection (5 cc/s; 100 cc) via an arterial femoral or humeral access. Two independent observers evaluated the angioarchitecture of the SVMs and the visualisation of both the Adamkiewicz artery and the anterior spinal artery. Then a consensus was obtained between the 2 reviewers; the results of the IA-CTA were finally compared with those of the full spinal DSA evaluated in consensus. The IA-CTA was feasible in all cases and depicted the SVM in all except one case (92 %). Interrater agreement was good for the location of the SVMs' level. Intermodality (IA-CTA/DSA) agreement was excellent for the level and side of the shunt point, as well as for the SVM subtype evaluation. In 77 % of the cases, the Adamkiewicz artery was satisfactorily seen at the same time on IA-CTA. IA-CTA is a new technique that seems helpful to reach a better understanding of SMVs and may help to tailor more precisely their treatment. (orig.)

  15. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations

    Directory of Open Access Journals (Sweden)

    Sherry M. Zakhary, DO

    2017-06-01

    Full Text Available A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5–10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits.

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

    Science.gov (United States)

    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.

  17. Aortic arch malformations

    International Nuclear Information System (INIS)

    Kellenberger, Christian J.

    2010-01-01

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  18. Fiber 1.56-1.9 μm lasers in treatment of vascular malformations in children and adults

    Science.gov (United States)

    Abushkin, Ivan A.; Privalov, Valeriy A.; Lappa, Alexander V.; Minaev, Vladimir P.

    2013-03-01

    A few new low invasive fiber laser technologies for treatment of 1) capillary malformations (port-wine stains), 2) venous, arterial, and arteriovenous malformations, 3) lymphatic malformations of 3 types: micro, small and large-cystic lymphangiomas are presented in this work. There were applied 1.56 μm laser distant photocoagulation, 1.56 μm laser endovascular thermotherapy, 1.9 μm laser instant ablation, 1.9 μm laser interstitial thermotherapy, and 1.9 μm laser excision. The technologies were applied to about 300 patients. Good clinical and esthetic results have been achieved in great majority cases.

  19. Associação de malformação vascular e gliomas: estudo de quatro casos Arteriovenous malformation-glioma association: study of four cases

    Directory of Open Access Journals (Sweden)

    Lia Raquel R. Borges

    2003-06-01

    Full Text Available Entre os pacientes operados no Hospital São Paulo e acompanhados pelo setor de neuro-oncologia no período de 1991 a 2000, avaliamos a apresentação clínica, aspectos de imagem e características histopatológicas de 4 pacientes (2 homens; idade entre 15 e 52 anos cujo diagnóstico histológico foi malformação vascular associada a glioma. O quadro inicial foi cefaléia progressiva com características de hipertensão intracraniana (em 3 e crises parciais motoras (em 1. O diagnóstico tomográfico inicial foi processo expansivo, sem que houvesse suspeita de malformação vascular pelo aspecto da imagem em nenhum caso. O exame histológico mostrou neoplasias de linhagem astrocítica associadas a malformações vasculares. Em nenhum paciente o componente vascular esteve localizado na intimidade da neoplasia. A associação de malformação vascular e gliomas é rara e deve ser caracterizada por nítida separação entre a malformação e a neoplasia, independente da vascularização própria do tumor.We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years presented with progressive headache with clinical evidence of intracranial hypertension (in 3 and partial seizures (in 1. CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

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

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Tiffany J. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Keck School of Medicine of the University of Southern California, Los Angeles, CA (United States); Girard, Erin [Siemens Corporation, Corporate Technology, Princeton, NJ (United States); Shellikeri, Sphoorti; Vossough, Arastoo; Ho-Fung, Victor; Cahill, Anne Marie [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Setser, Randolph [Siemens Medical Solutions USA, Inc., Hoffman Estates, IL (United States)

    2016-03-15

    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. (orig.)

  1. Early diagnosis of congenital vascular malformation as a condition to rapid prevention of complications – case study

    Directory of Open Access Journals (Sweden)

    Dominika Jaguś

    2017-06-01

    Full Text Available Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was admitted to the Department of Imaging Diagnostics for further diagnosis, where the triad characteristic for Klippel–Trénaunay syndrome and popliteal vein agenesis were diagnosed. Currently, a multidisciplinary team takes care of the boy in the Children’s Memorial Health Institute. Early and accurate diagnosis allows for rapid prevention of complications associated with Klippel–Trénaunay syndrome and enables patient-tailored treatment.

  2. Brain atrophy during aging

    International Nuclear Information System (INIS)

    Matsuzawa, Taiju; Yamada, Kenji; Yamada, Susumu; Ono, Shuichi; Takeda, Shunpei; Hatazawa, Jun; Ito, Masatoshi; Kubota, Kazuo

    1985-01-01

    Age-related brain atrophy was investigated in thousands of persons with no neurologic disturbances using X-CT and NMR-CT. Brain atrophy was minimal in 34-35 years old in both sexes, increased exponentially to the increasing age after 34-35 years, and probably resulted in dementia, such as vascular or multi-infarct dementia. Brain atrophy was significantly greater in men than in women at all ages. Brain volumes were maximal in 34-35 years old in both sexes with minimal individual differences which increased proportionally to the increasing age. Remarkable individual differences in the extent of brain atrophy (20 - 30 %) existed among aged subjects. Progression of brain atrophy was closely related to loss of mental activities independently of their ages. Our longitudinal study has revealed that the most important factors promoting brain atrophy during aging was the decrease in the cerebral blood flow. We have classified brain atrophy into sulcal and cisternal enlargement type (type I), ventricular enlargement type (type II) and mixed type (type III) according to the clinical study using NMR-CT. Brain atrophy of type I progresses significantly in almost all of the geriatric disorders. This type of brain atrophy progresses significantly in heavy smokers and drinkers. Therefore this type of brain atrophy might be caused by the decline in the blood flow in anterior and middle cerebral arteries. Brain atrophy of type II was caused by the disturbance of cerebrospinal fluid circulation after cerebral bleeding and subarachnoid bleeding. Brain atrophy of type III was seen in vascular dementia or multi-infarct dementia which was caused by loss of brain matter after multiple infarction, and was seen also in dementia of Alzheimer type in which degeneration of nerve cells results in brain atrophy. NMR-CT can easily detect small infarction (lacunae) and edematous lesions resulting from ischemia and hypertensive encephalopathy. (J.P.N.)

  3. Brain atrophy during aging

    International Nuclear Information System (INIS)

    Matsuzawa, Taiju; Takeda, Shumpei; Hatazawa, Jun

    1985-01-01

    Age-related brain atrophy was investigated in thousands of persons with no neurologic disturbances using X-CT and NMR-CT and following results were obtained. Brain atrophy was minimal in 34 -- 35 years old in both sexes, increased exponentially to the increasing age after 34 -- 35 years, and probably resulted in dementia, such as vascular or multiinfarct dementia. Brain atrophy was significantly greater in men than in women at all ages. Brain volumes were maximal in 34 -- 35 years old in both sexes with minimal individual differences which increased proportionally to the increasing age. Remarkable individual differences in the extents of brain atrophy (20 -- 30 %) existed among aged subjects. Some aged subjects had little or no atrophy of their brains, as seen in young subjects, and others had markedly shrunken brains associated with senility. From these results there must be pathological factors promoting brain atrophy with a great individual difference. We have studied the relation of intelligence to brain volume, and have ascertained that progression of brain atrophy was closely related to loss of mental activities independently of their ages. Our longitudinal study has revealed that the most important factors promoting brain atrophy during aging was decrease in the cerebral blood flow. MNR-CT can easily detected small infarction (lacunae) and edematous lesions resulting from ischemia and hypertensive encephalopathy, while X-CT can not. Therefore NMR-CT is very useful for detection of subtle changes in the brain. (J.P.N.)

  4. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Zlatareva, D.

    2012-01-01

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

  5. Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

    International Nuclear Information System (INIS)

    Tau, Noam; Atar, Eliyahu; Mei-Zahav, Meir; Bachar, Gil N.; Dagan, Tamir; Birk, Einat; Bruckheimer, Elchanan

    2016-01-01

    PurposeCoil embolization of pulmonary arteriovenous malformations (PAVMs) has a high re-canalization/re-perfusion rate. Embolization with Amplatzer plugs has been previously described, but the long-term efficacy is not established. This study reports the experience of a referral medical center with the use of coils and Amplatzer plugs for treating PAVMs in patients with hereditary hemorrhagic telangiectasia.MethodsThe study was approved by the Institutional Review Board with waiver of informed consent. The cohort included all patients who underwent PAVM embolization in 2004–2014 for whom follow-up imaging scans were available. The medical files were retrospectively reviewed for background data, embolization method (coils, Amplatzer plugs, both), and complications. Re-canalization of treated PAVMs was assessed from intrapulmonary angiograms (following percutaneous procedures) or computed tomography angiograms. Fisher’s exact test and Pearson Chi-squared test or t test were used for statistical analysis, with significance at p < 0.05.Results16 patients met the study criteria. Imaging scans were available for 63 of the total 110 PAVMs treated in 41 procedures. Coils were used for embolization in 37 PAVMs, Amplatzer plugs in 21, and both in five. Median follow-up time was 7.7 years (range 1.4–18.9). Re-canalization was detected in seven vessels, all treated with coils; there were no cases of re-canalization in plug-occluded vessels (p = 0.0413).ConclusionThe use of Amplatzer plugs for the embolization of PAVMs in patients with hemorrhagic telangiectasia is associated with a significantly lower rate of re-canalization of feeding vessels than coils. Long-term prospective studies are required to confirm these findings.

  6. Amplatzer Vascular Plugs Versus Coils for Embolization of Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

    Energy Technology Data Exchange (ETDEWEB)

    Tau, Noam, E-mail: taunoam@gmail.com; Atar, Eliyahu [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Mei-Zahav, Meir [Schneider Children’s Medical Center of Israel, Department of Pulmonology and National HHT Center (Israel); Bachar, Gil N. [Rabin Medical Center – Beilinson and HaSharon Campuses, Department of Diagnostic Imaging (Israel); Dagan, Tamir; Birk, Einat; Bruckheimer, Elchanan [Schneider Children’s Medical Center of Israel, Institute of Pediatric Cardiology (Israel)

    2016-08-15

    PurposeCoil embolization of pulmonary arteriovenous malformations (PAVMs) has a high re-canalization/re-perfusion rate. Embolization with Amplatzer plugs has been previously described, but the long-term efficacy is not established. This study reports the experience of a referral medical center with the use of coils and Amplatzer plugs for treating PAVMs in patients with hereditary hemorrhagic telangiectasia.MethodsThe study was approved by the Institutional Review Board with waiver of informed consent. The cohort included all patients who underwent PAVM embolization in 2004–2014 for whom follow-up imaging scans were available. The medical files were retrospectively reviewed for background data, embolization method (coils, Amplatzer plugs, both), and complications. Re-canalization of treated PAVMs was assessed from intrapulmonary angiograms (following percutaneous procedures) or computed tomography angiograms. Fisher’s exact test and Pearson Chi-squared test or t test were used for statistical analysis, with significance at p < 0.05.Results16 patients met the study criteria. Imaging scans were available for 63 of the total 110 PAVMs treated in 41 procedures. Coils were used for embolization in 37 PAVMs, Amplatzer plugs in 21, and both in five. Median follow-up time was 7.7 years (range 1.4–18.9). Re-canalization was detected in seven vessels, all treated with coils; there were no cases of re-canalization in plug-occluded vessels (p = 0.0413).ConclusionThe use of Amplatzer plugs for the embolization of PAVMs in patients with hemorrhagic telangiectasia is associated with a significantly lower rate of re-canalization of feeding vessels than coils. Long-term prospective studies are required to confirm these findings.

  7. Vascular steal associated with vein of Galen aneurysm

    International Nuclear Information System (INIS)

    Grossman, R.I.; Zimmerman, R.A.; Goldberg, H.I.; Bilaniuk, L.T.; Bruce, D.A.

    1984-01-01

    Seven patients presented with neonatal arteriovenous malformation and vein of Galen aneurysms. Six had a large degree of vascular steal demonstrated by cerebral angiography and all had significant parenchymal loss on initial CT. Angiographically, the steal affected the ophthalmic artery and branches of the middle and anterior cerebral arteries. Repeat CT in two patients, one of whom was untreated for 7 months, revealed pronounced atrophy. Patients with neonatal vein of Galen aneurysms present with parenchymal loss on CT which is related to vascular steal and may be progressive. (orig.)

  8. A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.

    Science.gov (United States)

    Thong, M K; Thompson, E; Keenan, R; Simmer, K; Harbord, M; Davidson, G; Haan, E

    1999-10-01

    Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

  9. Brain Malformations

    Science.gov (United States)

    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, ...

  10. Brain arteriovenous malformations: Report of a case | Adeyinka ...

    African Journals Online (AJOL)

    Brain Arteriovenous Malformation (BAVM) is a form of congenital vascular malformation that are present at birth, and may be evident clinically, and usually will grow commensurately with the child. We report an adult ,a 40-year-old woman with brain arteriovenous malformation presenting with headache and epileptic ...

  11. A case of pancreatic AV malformation in an elderly man.

    Science.gov (United States)

    Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

    2018-02-05

    A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

  12. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen

    2007-01-01

    The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs...... malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the risk...... of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital...

  13. Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports

    Directory of Open Access Journals (Sweden)

    Viader Fausto

    2011-07-01

    Full Text Available Abstract Background Paradoxical embolism due to pulmonary arteriovenous malformations is the main mechanism of brain infarction in patients with hereditary hemorrhagic telangiectasia. International Guidelines have recently been published to clarify the performance of screening tests and the effectiveness of treatment for pulmonary arteriovenous malformations. Case Presentation We present two cases of hereditary hemorrhagic telangiectasia patients of our hospital who experienced an acute stroke secondary to paradoxical embolism. Conclusions These two cases show that the guidelines must be followed to prevent the occurrence of ischemic stroke in patients with hereditary hemorrhagic telangiectasia, and that although they may be adequate in most cases, there are some patients who need a more personalized approach.

  14. A locus for hereditary capillary malformations mapped on chromosome 5q

    NARCIS (Netherlands)

    Breugem, Corstiaan C.; Alders, Marielle; Salieb-Beugelaar, Georgette B.; Mannens, Marcel M. A. M.; van der Horst, Chantal M.; Hennekam, Raoul C. M.

    2002-01-01

    Capillary malformations (port-wine stains) are the most common vascular malformations occurring in 0.3% of live births. Most capillary malformations occur sporadically and present as a solitary lesion. Capillary malformations can also occur as a component of well-described syndromes. Familial

  15. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

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

  16. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  17. [Superficial vascular anomalies of the face: apropos of six cases].

    Science.gov (United States)

    El Kohen, A; Benjelloun, A; El Quessar, A; El Hassani, M R; Benchekroun, L; Lazrak, A; Jazouli, M; Kzadri, N

    2003-12-01

    The classification of superficial vascular anomalies of the face recognizes two major categories: hemangiomas and vascular malformations. A multidisciplinary approach to these malformations is necessary. MRI of venous vascular malformations, pulsed Doppler and arteriography of arteriovenous malformations are key examinations in the exploration strategy for superficial vascular malformations. Hemangiomas always regress. Surgery is generally needed only for late sequelae although in some cases early surgery is beneficial. Percutaneous sclerotherapy and surgery are indicated for venous malformations in order to minimize or improve skin, muscle and bone distorsions. Arteriovenous malformations are the most dangerous vascular anomalies of the face. Superselective arterial embolization prepares the surgical excision of the nidus, complete resection is essential. We review 6 cases of superficial vascular malformations of the face treated surgically and discuss the diagnosis features and the treatment modalities of these vascular anomalies.

  18. Urogenital atrophy.

    Science.gov (United States)

    Calleja-Agius, J; Brincat, M P

    2009-08-01

    The major cause of urogenital atrophy in menopausal women is estrogen loss. The symptoms are usually progressive in nature and deteriorate with time from the menopausal transition. The most prevalent urogenital symptoms are vaginal dryness, vaginal irritation and itching. The classical changes in an atrophic vulva include loss of labial and vulvar fullness, with narrowing of the introitus and inflamed mucosal surfaces. Dyspareunia and vaginal bleeding from fragile atrophic skin are common problems. Other urogenital complaints include frequency, nocturia, urgency, incontinence and urinary tract infections. Atrophic changes of the vulva, vagina and lower urinary tract can have a large impact on the quality of life of the menopausal woman. However, hormonal and non-hormonal treatments can provide patients with the solution to regain previous level of function. Therefore, clinicians should sensitively question and examine menopausal women, in order to correctly identify the pattern of changes in urogenital atrophy and manage them appropriately.

  19. Interpretation of plain film radiology in infants and children with cardiac and vascular malformations. Pt. 2. Complex angiocardiopathies exemplified by pulmonary atresia and tricuspid valve atresia cases

    Energy Technology Data Exchange (ETDEWEB)

    Rautenburg, H.W.

    1987-04-01

    This second part shows that its interpreted correctly diagnostic plain film radiology may contribute important information to an often complicated differential diagnosis of complex angiocardiopthies exemplified here by various subforms and types of pulmonary and tricuspid atresias. Diagnostic plainfilm radiology, however, is just one part of total preliminary cardiological diagnostics. In many cases of congenital heart and vessel malformations, it is of great diagnostic value in the practical medical environment and does not compete with echo cardiography especially in easy diagnoses like that of lung perfusion.

  20. MR-guided sclerotherapy of low-flow vascular malformations using T2 -weighted interrupted bSSFP (T2 W-iSSFP): comparison of pulse sequences for visualization and needle guidance.

    Science.gov (United States)

    Xu, Di; Herzka, Daniel A; Gilson, Wesley D; McVeigh, Elliot R; Lewin, Jonathan S; Weiss, Clifford R

    2015-02-01

    Image-guided treatment of low-flow vascular (venous or lymphatic) malformations presents a challenging visualization problem, regardless of the imaging modality being used for guidance. The purpose of this study was to employ a new magnetic resonance imaging (MRI) sequence, T2 -weighted interrupted balanced steady-state free precession (T2 W-iSSFP), for real-time image guidance of needle insertion. T2 W-iSSFP uses variable flip angle balanced steady-state free precession (bSSFP, a.k.a. SSFP) to establish T2 -weighting and fat suppression. Swine (n = 3) and patients (n = 4, three female, all with venous malformations) were enrolled in the assessment. T2 -weighted turbo spin echo (T2 -TSE) with spectral adiabatic inversion recovery (SPAIR), SPAIR-T2 -TSE or T2 -TSE for short, was used as the reference. T2 -weighted half Fourier acquired single shot turbo spin echo (T2 -HASTE) with SPAIR (SPAIR-T2 -HASTE, T2 -HASTE for short), fat saturated bSSFP (FS-SSFP), and T2 W-iSSFP were imaged. Numeric metrics, namely, contrast-to-noise ratio (CNR) efficiency (CNR divided by the square root of acquisition time) and local sharpness (the reciprocal of edge width), were used to assess image quality. MR-guided sclerotherapy was performed on the same patients using real-time T2 W-iSSFP to guide needle insertion. Comparing the visualization of needles in the images of swine, the local sharpness (mm(-1) ) was: 0.21 ± 0.06 (T2 -HASTE), 0.48 ± 0.02 (FS-SSFP), and 0.49 ± 0.03 (T2 W-iSSFP). T2 W-iSSFP is higher than T2 -HASTE (P W-iSSFP). T2 W-iSSFP is higher than FS-SSFP (P W-iSSFP was 2.5-3.5 frames per second. All MR-guided sclerotherapy procedures were successful, with all needles (six punctures) placed in the targets. T2 W-iSSFP provides effective lesion identification and needle visualization. This new pulse sequence can be used for MR-guided sclerotherapy of low-flow vascular malformations. It may have potential use in other MR-guided procedures where heavily T2 -weighted real

  1. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Faisal Shamim

    2012-01-01

    Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

  2. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  3. Congenital bronchopulmonary foregut malformations: concepts and controversies

    International Nuclear Information System (INIS)

    Newman, Beverley

    2006-01-01

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  4. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  5. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

    2006-08-15

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  6. Spinal Muscular Atrophy FAQ

    Science.gov (United States)

    ... SMA: Frequently Asked Questions What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a genetic neuromuscular ... future trials in SMA. What is Spinal Muscular Atrophy with Respiratory Distress (SMARD)? SMARD and SMA are ...

  7. [Value of angiography and embolisation in treatment of head and neck vascular malformations at Otolaryngology Department, Poznań University of Medical Sciences, Poland].

    Science.gov (United States)

    Wróbel, Maciej; Kopeć, Tomasz; Juszkat, Robert; Szyfterl, Witold; Borucki, Łukasz

    2008-01-01

    Angiography is an invasive, radiological investigation of vascular system. It plays an important role within variety of diagnostic tools in head and neck pathologies. In selected cases with well defined tumor supply vessels, angiography may be combined with intravascular obliteration. This possibility widen indications, which comprise diagnostic arteriographies - visualization of blood supply and extension of vascularization; therapeutic and diagnostic arteriographies - palliative or radical in character, dependent on pathology; and therapeutic angiographies as adjuvant therapy prior to surgical treatment. Authors present their experience with endovascular techniques application in head and neck pathologies. Material comprised 59 angiographies performed in patients treated at Otolaryngology Department at Poznań University of Medical Sciences between 2000-2007. In conclusion authors emphasize advantages and disadvantages, as well as, the role of the endovascular treatment in head and neck surgery.

  8. Abernethy malformation: a case report

    Directory of Open Access Journals (Sweden)

    Pathak Ashish

    2012-05-01

    Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

  9. A severe case of astrogliosis and encephalomalacia in a neonate with a massive vein of Galen malformation (VGM

    Directory of Open Access Journals (Sweden)

    F Ismail

    2011-05-01

    Full Text Available Vein of Galen malformations (VGMs are rare anomalies of intracranial circulation that constitute 1% of all intracranial vascular malformations. We describe a case of severe encephalomalacia associated with a VGM, which has not been previously described.

  10. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises...

  11. Contemporary diagnosis of venous malformation

    Directory of Open Access Journals (Sweden)

    Lee BB

    2013-11-01

    Full Text Available BB Lee,1 I Baumgartner21Department of Surgery, George Washington University, Washington, DC, USA; 2Swiss Cardiovascular Center, University Hospital Bern, Bern, SwitzerlandAbstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts, growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones or externally (eg, by trauma or surgery. These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular

  12. Multiple System Atrophy (MSA)

    Science.gov (United States)

    Multiple system atrophy (MSA) Overview Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting your body's involuntary (autonomic) functions, including blood pressure, breathing, bladder function and muscle ...

  13. [Macrocephaly-capillary malformation. A neonatal case].

    Science.gov (United States)

    Coste, K; Sarret, C; Cisse, A; Delabaere, A; Francannet, C; Vanlieferinghen, P

    2012-09-01

    Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities. Since 2007, this syndrome has been renamed macrocephaly-capillary malformation. The pregnancy was marked by polyhydramnios associated with fetal macrosomia and macrocephaly. Clinical examination of the newborn confirmed overgrowth, macrocephaly, and found skin abnormalities with diffuse marbled skin, filtrum and upper lip vascular anomaly, and several superficial capillary malformations on the chest and abdomen, partial bilateral syndactyly between the 2nd and 3rd toes, and right hemi-hypertrophy of the body. Brain magnetic resonance imaging showed moderate right hemimegalencephaly. Radiological examination of the skeleton showed asymmetry of the limbs. At 8 months, the medical follow-up confirmed the diagnosis and its neurosurgical treatment of hydrocephalus secondary to an Arnold Chiari malformation. The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry. We describe the major components of this multiple malformative syndrome that is rarely reported in the pediatric literature, especially in newborns. This syndrome should be detected early because medical multidisciplinary follow-up is necessary to prevent different complications (neurological, orthopedic, or oncologic). Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  14. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    Alorainy, Ibrahim A.

    2006-01-01

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  15. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    Griffiths, P.D.; Humphreys, R.P.

    1998-01-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  16. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  17. Imaging evaluation of fetal vascular anomalies

    International Nuclear Information System (INIS)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Koch, Bernadette L.; Laor, Tal; Adams, Denise M.; Gupta, Anita; Lim, Foong-Yen

    2015-01-01

    Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can guide diagnosis. We present a case-based pictorial essay to illustrate the prenatal imaging characteristics in 11 pregnancies with vascular malformations (5 lymphatic malformations, 2 Klippel-Trenaunay syndrome, 1 venous-lymphatic malformation, 1 Parkes-Weber syndrome) and vascular tumors (1 congenital hemangioma, 1 kaposiform hemangioendothelioma). Concordance between prenatal and postnatal diagnoses is analyzed, with further discussion regarding potential pitfalls in identification. (orig.)

  18. Imaging evaluation of fetal vascular anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Koch, Bernadette L.; Laor, Tal [MLC 5031 Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Adams, Denise M. [Cincinnati Children' s Hospital Medical Center, Department of Pediatrics and Hemangioma and Vascular Malformation Center, Cincinnati, OH (United States); Gupta, Anita [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Pediatric Surgery and Fetal Center of Cincinnati, Cincinnati, OH (United States)

    2015-08-15

    Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can guide diagnosis. We present a case-based pictorial essay to illustrate the prenatal imaging characteristics in 11 pregnancies with vascular malformations (5 lymphatic malformations, 2 Klippel-Trenaunay syndrome, 1 venous-lymphatic malformation, 1 Parkes-Weber syndrome) and vascular tumors (1 congenital hemangioma, 1 kaposiform hemangioendothelioma). Concordance between prenatal and postnatal diagnoses is analyzed, with further discussion regarding potential pitfalls in identification. (orig.)

  19. Dandy-Walker malformation

    Directory of Open Access Journals (Sweden)

    Maria Silian Mandu Fonseca

    2017-03-01

    Full Text Available Dandy-Walker malformation is characterized by complete or partial agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa with displacement of the lateral sinuses. This article aims to present current, anatomical, etiological, pathophysiological, syndromic and treatment aspects of this malformation.

  20. Split Cord Malformations

    Directory of Open Access Journals (Sweden)

    Yurdal Gezercan

    2015-06-01

    Full Text Available Split cord malformations are rare form of occult spinal dysraphism in children. Split cord malformations are characterized by septum that cleaves the spinal canal in sagittal plane within the single or duplicated thecal sac. Although their precise incidence is unknown, split cord malformations are exceedingly rare and represent %3.8-5 of all congenital spinal anomalies. Characteristic neurological, urological, orthopedic clinical manifestations are variable and asymptomatic course is possible. Earlier diagnosis and surgical intervention for split cord malformations is associated with better long-term fuctional outcome. For this reason, diagnostic imaging is indicated for children with associated cutaneous and orthopedic signs. Additional congenital anomalies usually to accompany the split cord malformations. Earlier diagnosis, meticuolus surgical therapy and interdisciplinary careful evaluation and follow-up should be made for good prognosis. [Cukurova Med J 2015; 40(2.000: 199-207

  1. [Congenital spinal malformations].

    Science.gov (United States)

    Ertl-Wagner, B B; Reiser, M F

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered.

  2. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  3. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  4. Vascular neoplasms.

    Science.gov (United States)

    Williams, H B

    1980-07-01

    Vascular neoplasms in the broad sense represent a very common group of tumors or hamartomas that show great variability in gross appearance, microscopic appearance, and clinical course. Generally, neoplasms are composed of one cell type, but vascular neoplasms are collections of endothelial-lined tubes or tubules with connective tissue walls that may contain smooth muscle cells, pericytes, and nerve elements according to the specific tissues of origin. The classification of vascular neoplasms as outlined in this article attempts to delineate each tumor or hamartoma according to its histologic appearance and clinical behavior. The clinical course ranges from completely benign, self-involuting malformations such as the strawberry hemangioma to highly malignant angiosarcomas with their rapid growth and frequent metastases. Defects in the lymphatic system show gradations from simple lymphangiomas through lymphedema and lymphangiectasia, which can probably be explained by faulty embryologic development. Management of these lesions has been discussed, including brief descriptions of most of the currently accepted treatment methods for these frequently encountered clinical problems.

  5. Pulmonary Arteriovenous Malformations

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM.......Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM....

  6. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

    1986-01-01

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

  7. Bed Rest Muscular Atrophy

    Science.gov (United States)

    Greenleaf, John E.

    2000-01-01

    A major debilitating response from prolonged bed rest (BR) is muscle atrophy, defined as a "decrease in size of a part of tissue after full development has been attained: a wasting away of tissue as from disuse, old age, injury or disease". Part of the complicated mechanism for the dizziness, increased body instability, and exaggerated gait in patients who arise immediately after BR may be a result of not only foot pain, but also of muscular atrophy and associated reduction in lower limb strength. Also, there seems to be a close association between muscle atrophy and bone atrophy. A discussion of many facets of the total BR homeostatic syndrome has been published. The old adage that use determines form which promotes function of bone (Wolff's law) also applies to those people exposed to prolonged BR (without exercise training) in whom muscle atrophy is a consistent finding. An extreme case involved a 16-year-old boy who was ordered to bed by his mother in 1932: after 50 years in bed he had "a lily-white frame with limbs as thin as the legs of a ladder-back chair". These findings emphasize the close relationship between muscle atrophy and bone atrophy. In addition to loss of muscle mass during deconditioning, there is a significant loss of muscle strength and a decrease in protein synthesis. Because the decreases in force (strength) are proportionately greater than those in fiber size or muscle cross-sectional area, other contributory factors must be involved; muscle fiber dehydration may be important.

  8. Porencephaly in dogs and cats: relationships between magnetic resonance imaging (MRI) features and hippocampal atrophy.

    Science.gov (United States)

    Hori, Ai; Hanazono, Kiwamu; Miyoshi, Kenjirou; Nakade, Tetsuya

    2015-07-01

    Porencephaly is the congenital cerebral defect and a rare malformation and described few MRI reports in veterinary medicine. MRI features of porencephaly are recognized the coexistence with the unilateral/bilateral hippocampal atrophy, caused by the seizure symptoms in human medicine. We studied 2 dogs and 1 cat with congenital porencephaly to characterize the clinical signs and MRI, and to discuss the associated MRI with hippocampal atrophy. The main clinical sign was the seizure symptoms, and all had hippocampal atrophy at the lesion side or the larger defect side. There is association between hippocampal atrophy or the cyst volume and the severe of clinical signs, and it is suggested that porencephaly coexists with hippocampal atrophy as well as humans in this study.

  9. Chronic intestinal bleeding caused by congenital arteriovenous malformations

    NARCIS (Netherlands)

    Haringsma, J.; Tytgat, G. N.

    1988-01-01

    A case of vascular malformation over the entire length of the colon and small intestine in a 41-year-old male with an almost life-long history of gastrointestinal hemorrhage, is presented. The patient's history, in connection with the findings at colonoscopy and surgery, was highly suggestive of

  10. Conjunctival venous malformations: a case report | Hamza | Pan ...

    African Journals Online (AJOL)

    The mass extended to the superolateral fornix and was associated with a larg flat subconjunctival hemorrhage (D). The cornea was clear, the iris and the lens were normal. There was no proptosis, globe displacement, or motility disturbance. This is characteristic of periocular vascular malformation and it satisfies the criteria ...

  11. Radiological features of childhood giant cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

    2011-04-15

    Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

  12. Surgical management of a hemorrhagic pediatric brainstem cavernous malformation – A case report

    Directory of Open Access Journals (Sweden)

    Deborah X. Xie

    2017-06-01

    Full Text Available Vascular malformations of the central nervous system such as cavernous malformations and arteriovenous malformations are rare lesions with controversial management recommendations in the pediatric population. We report a case of a 3-year-old male who presented with multiple discrete episodes of focal neurological deficits including ataxia and an abducens nerve palsy. Imaging revealed a 1.5 cm hemorrhagic mass located in the pons that was concerning for a cavernous malformation. This lesion was completely excised via a combined transpetrosal approach, and the patient had complete resolution of neurologic symptoms at three-month follow-up.

  13. MRI of the brain: malformations

    International Nuclear Information System (INIS)

    Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

    1990-01-01

    Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

  14. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  15. Congenital cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Kamal M. Alshamiri

    2017-12-01

    Full Text Available Congenital pulmonary airway malformation of the lung is a rare lesion that commonly affects the lower respiratory tract, which manifests as progressive respiratory distress in the neonatal period. This case is highlighted to raise awareness of the variable evolving morphological and radiological appearance of this entity.

  16. Uterine Vascular Lesions

    Science.gov (United States)

    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

  17. Vascular lesions of the hand

    Energy Technology Data Exchange (ETDEWEB)

    Drape, Jean-Luc [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France)]. E-mail: jean-luc.drape@cch.ap-hop-paris.fr; Feydy, Antoine [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France); Guerini, Henri [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France); Desmarais, Eric [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France); Godefroy, Didier [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France); Viet, Dominique Le [Institut de la main, Paris (France); Chevrot, Alain [Service de Radiologie B, Hopital Cochin, APHP, Universite Paris, 27 rue du Fbg Saint-Jacques, 75014 Paris (France)

    2005-12-15

    The vascular malformations are not uncommon on the hand and offer diagnostic and therapeutic challenges. Enjolras and Mulliken's classification is exposed. Their depiction and pretreatment assessment may benefit from non-invasive imaging as color-Doppler ultrasound and MRI combined with magnetic resonance angiography (MRA). Some chronic traumatic vascular injuries as the hypothenar hammer syndrome may also take advantage of these imaging modalities.

  18. [Vascular anomalies in the neonatal period].

    Science.gov (United States)

    Bejarano, M; Vicario, F; Soria, A; Parri, F J; Albert, A

    2017-07-20

    Vascular anomalies in the neonatal period are a diagnostic challenge for the lack of evident signs, symptoms and follow-up, and the convenience of restricting aggressive diagnostic tests. The aim of this work is to review the characteristics of neonatal cases presented to our Vascular Anomalies Unit in the last 5 years. All cases of suspected vascular anomaly presented to our unit before 1 month of age between 2010 and 2015 were reviewed, diagnostic tests and treatments carried out with chronology were analyzed. Presumptive diagnosis and final diagnosis (when available) were compared. Fifteen vascular tumors were found, 2 with visceral involvement: 6 infantile hemangiomas (IH), 3 NICH, 4 RICH, 1 tufted hemangioma, 1 unspecified liver vascular tumor, 3 venous malformations (2 equivocal MRI and a hyperkeratotic venous malformation), 4 lymphatic malformations, 3 of them macrocystic, and 2 vascular lesions that were diagnosed of fibrosarcoma and sclerema neonatorum and they were not vascular anomalies. Only 3 patients with macrocystic lymphatic malformations had prenatal diagnosis. Accurate diagnosis of vascular anomalies during the first month of life is difficult, even with MRI. Only in a few cases early treatment is needed, so it is worth taking time to follow-up. Different types of treatment (observation, propranolol, biopsy, laser, embolization, and resection) will depend on the condition to be treated. A continuous observation can avoid unnecessary procedures and risks.

  19. Contemporary Management of Pulmonary Arteriovenous Malformations.

    Science.gov (United States)

    Rauh, Nicholas; Gurley, John; Saha, Sibu

    2017-12-01

    Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Advancements in diagnostic methods and operative techniques have allowed for more effective treatment of the disease. Most recently, the use of vascular plug transcatheter embolization has been described as an effective therapeutic procedure in the management of PAVMs. In this report, we present our experience with nine cases of PAVMs treated at the University of Kentucky, including special consideration of an exemplary case that illustrates the typical course of treatment for the disease.

  20. Uncommon cavernous malformation of the optic chiasm: a case report

    Directory of Open Access Journals (Sweden)

    Ning Xianbin

    2012-08-01

    Full Text Available Abstract Cavernous malformation (CM is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.

  1. Pulmonary Arteriovenous Malformations

    OpenAIRE

    Shovlin, Claire L.

    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 ...

  2. Multiple cerebral cavernous malformations in a pediatric patient with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Nicholas T. Gamboa, B.S.

    2017-12-01

    Full Text Available Turner syndrome (TS; 45,X0 is a relatively common chromosomal disorder that is associated with characteristic phenotypic stigmata: short stature, webbed neck, broad (“shield” chest with widely spaced nipples, cubitus valgus, ovarian dysgenesis (“streak ovary”, primary amenorrhea, renal anomalies, lymphedema of the hands or feet, and various vascular abnormalities. Abnormalities of the cardiovascular system are commonly reported in patient with TS, and vascular anomalies affecting various other organ systems are also frequently reported. To date, however, few reports of intracranial vascular malformations exist. The authors report the case of a patient with TS who was found to have multiple cerebral cavernous malformations on imaging.

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

    Science.gov (United States)

    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.

  4. Dominant optic atrophy

    DEFF Research Database (Denmark)

    Lenaers, Guy; Hamel, Christian; Delettre, Cécile

    2012-01-01

    DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC) an......) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain....

  5. Progressive hemifacial atrophy with ciliary body atrophy and ocular hypotony

    Directory of Open Access Journals (Sweden)

    T Ashwini Kini

    2015-01-01

    Full Text Available Progressive hemifacial atrophy (PHA is a disease of unknown etiology affecting one-half of the face. Ocular involvement is uncommon. Atrophy of iris is rare, with only a few cases of partial atrophy being reported in the literature. We report a case of total atrophy of iris and ciliary body with associated ocular hypotony in a 16-year-old girl with PHA. We believe this is the first reported case of complete atrophy of iris and ciliary body in PHA. Ocular hypotony in PHA was thought to be due to intra-ocular inflammation. However in our case it appears to be secondary to severe atrophy of the ciliary body.

  6. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  7. Cerebral malformations without antenatal diagnosis

    International Nuclear Information System (INIS)

    Girard, Nadine J.

    2010-01-01

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  8. Multiple malformations and maternal smoking.

    Science.gov (United States)

    Källén, K

    2000-07-01

    The Swedish health registries were used to investigate a possible effect of maternal smoking on the incidence of multiple malformations. Among 1413811 infants born in 1983-96 and with known smoking exposure in early pregnancy, 26619 with isolated malformations and 1409 with two or more malformations were selected. After controlling for year of birth, maternal age, parity and educational level, a statistically significant association between maternal smoking and multiple malformations was found (OR 1.15; 95% CI 1.02, 1.29). Among isolated malformations, the estimated OR for maternal smoking was close to unity (OR 1.02; 95% CI 0.99, 1.05), but a strong heterogeneity of the magnitude of the association between maternal smoking and the different malformations was found. Among multimalformed, no such heterogeneity was indicated. The ORs for maternal smoking were calculated for all possible pairwise combinations of 44 selected malformations, but no association between maternal smoking and any specific combination could be detected. The ORs for maternal smoking among probable cases of VATER, CHARGE or OEIS non-random associations, respectively, were estimated, but no association was indicated between maternal smoking and any of the malformation complexes. The results of the present study indicate that maternal smoking is associated with a non-specific increased risk of multiple malformations, but further research is needed before such an inference can be made.

  9. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  10. Muscular atrophy in diabetic neuropathy

    DEFF Research Database (Denmark)

    Andersen, H; Gadeberg, P C; Brock, B

    1997-01-01

    Diabetic patients with polyneuropathy develop motor dysfunction. To establish whether motor dysfunction is associated with muscular atrophy the ankle dorsal and plantar flexors of the non-dominant leg were evaluated with magnetic resonance imaging in 8 patients with symptomatic neuropathy, in 8 non...... confirmed that the atrophy predominated distally. We conclude that muscular atrophy underlies motor weakness at the ankle in diabetic patients with polyneuropathy and that the atrophy is most pronounced in distal muscles of the lower leg indicating that a length dependent neuropathic process explains...

  11. Atypical MRI features in soft-tissue arteriovenous malformation: a novel imaging appearance with radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Patel, Anand S. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); University of California, San Francisco, Department of Interventional Radiology, San Francisco, CA (United States); Schulman, Joshua M.; Ruben, Beth S. [University of California, San Francisco, Departments of Pathology and Dermatology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Plastic Surgery, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Dowd, Christopher F. [University of California, San Francisco, Department of Interventional Neuroradiology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Hess, Christopher P. [University of California, San Francisco, Department of Neuroradiology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States)

    2015-09-15

    The absence of a discrete mass, surrounding signal abnormality and solid enhancement are imaging features that have traditionally been used to differentiate soft-tissue arteriovenous malformations from vascular tumors on MRI. We have observed that these findings are not uncommon in arteriovenous malformations, which may lead to misdiagnosis or inappropriate treatment. To estimate the frequency of atypical MRI features in soft-tissue arteriovenous malformations and assess their relationship to lesion size, location, tissue type involved and vascular architecture. Medical records, MRI and histopathology were reviewed in consecutive patients with soft-tissue arteriovenous malformations in a multidisciplinary vascular anomalies clinic. Arteriovenous malformations were divided into those with and without atypical MRI findings (perilesional T2 signal abnormality, enhancement and/or a soft-tissue mass). Lesion location, size, tissue involved and vascular architecture were also compared between groups. Tissue stains were reviewed in available biopsy or resection specimens to assess relationships between MRI findings and histopathology. Thirty patients with treatment-naive arteriovenous malformations were included. Fifteen lesions demonstrated atypical MRI. There was no difference in age, gender, lesion size or involved body part between the groups. However, more than half of the atypical lesions demonstrated multicompartmental involvement, and tiny intralesional flow voids were more common in atypical arteriovenous malformations. Histopathology also differed in atypical cases, showing densely packed endothelial cells with connective tissue architectural distortion and edema. Arteriovenous malformations may exhibit features of a vascular tumor on MRI, particularly when multicompartmental and/or containing tiny internal vessels. These features are important to consider in suspected fast-flow vascular malformations and may have implications with respect to their treatment

  12. Chroroideremie et Atrophie Gyrata

    Directory of Open Access Journals (Sweden)

    G. Chams

    1957-01-01

    Full Text Available The authors describe case history of three patients who one-side progressive atrophy of the iris. Two of these'; cases became later a glaucoma which could' not' be treated' even surgidily. third patient' had a betercebromi~'of the same side. The authors. discuss t4e different theories for the pathogenesi~ o~ the pl:imary. progl:lcssive att:«;>phy o( the iris bu~ believe that sy~pathetic theory which is nearer to Fuchs' syndrom is more accepJable..

  13. Primary cerebellar tuberculoma in Arnold-Chiari malformation mimicking posterior cranial fossa tumor: the first report.

    Science.gov (United States)

    Nabiuni, Mohsen; Sarvarian, Saeedeh

    2011-12-01

    Chiari malformations are a congenital heterogeneous group of disorders characterized by anatomic anomalies of the cerebellum, brain stem, and craniocervical junction associated with downward displacement of the cerebellum, alone or with lower medulla, into the cervical spine canal. The patient was a 23-year-old woman, a known case of Arnold-Chiari malformation with peripheral neuropathy and muscular atrophy, who presented with headache, drowsiness, decreased vision, and severe gait dysfunction lasting for several years. Brain magnetic resonance imaging confirmed a hypointense signal mass in the left hemisphere of the cerebellum causing mass effects on the fourth ventricle, which shifted it, accompanied with dilation of third and lateral ventricles.

  14. Local Model of Arteriovenous Malformation of the Human Brain

    International Nuclear Information System (INIS)

    Telegina, Nadezhda; Chupakhin, Aleksandr; Cherevko, Aleksandr

    2013-01-01

    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.

  15. Congenital intrahepatic arterioportal and portosystemic venous fistulae with jejunal arteriovenous malformation depicted on multislice spiral CT

    International Nuclear Information System (INIS)

    Chae, Eun Jin; Goo, Hyun Woo; Yoon, Chong Hyun; Kim, Seong-Chul

    2004-01-01

    We report a symptomatic infant with very rare congenital arterioportal and portosystemic venous fistulae in the liver. Multislice CT after partial transcatheter embolisation revealed not only the complicated vascular architecture of the lesion, but also an incidental jejunal arteriovenous malformation which explained the patient's melena. The patient underwent ligation of the hepatic artery and resection of the jejunal arteriovenous malformation. Postoperative multislice CT clearly demonstrated the success of the treatment. (orig.)

  16. Sacral agenesis and caudal spinal cord malformations.

    Science.gov (United States)

    Pang, D

    1993-05-01

    Thirty-three children and one adult with sacral agenesis (SA) were studied by computed tomographic myelography and/or magnetic resonance imaging and were monitored for a mean period of 4.7 years. Four children had the OEIS (concurrent omphalocele, cloacal exstrophy, imperforate anus, and spinal deformities) complex, and three others had VATER (vertebral abnormality, anal imperforation, tracheoesophageal fistula, and renal-radial anomalies) syndrome. All patients shared some of the characteristic features of SA, namely, a short, intergluteal cleft, flattened buttocks, narrow hips, distal leg atrophy, and talipes deformities. Neurologically, lumbosacral sensation was much better preserved than the motor functions, and urinary and bowel symptoms were universal. The level of the vertebral aplasia was correlated with the motor but not with the sensory level. The important neuroimaging findings of SA were as follows: 1) 12 patients (35%) had nonstenotic, tapered narrowing of the caudal bony canal, and 2 patients had hyperostosis indenting the caudal thecal sac; 2) 16 patients (47%) had nonstenotic, tapered narrowing and shortening of the dural sac, but 3 patients (9%) had true, symptomatic dural stenosis, in which the cauda equina was severely constricted by a pencil-sized caudal dural sac; 3) the coni could be divided into those ending above the L1 vertebral body (Group 1, 14 patients) and those ending below L1 (Group 2, 20 patients). Thirteen of 14 Group 1 coni were club or wedge-shaped, terminating abruptly at T11 or T12, as if the normal tip was missing. All 20 Group 2 coni were tethered: 13 were tethered by a thick filum; 2 were extremely elongated and had a terminal hydromyelia; 3 were terminal myelocystoceles; and 2 were tethered by a transitional lipoma. High blunt coni were highly correlated with high (severe) sacral malformations (sacrum ending at S1), but low-lying tethered coni were highly correlated with low sacral malformations (S2 or lower pieces present

  17. The inheritance of peripapillary atrophy

    NARCIS (Netherlands)

    Healey, Paul R.; Mitchell, Paul; Gilbert, Clare E.; Lee, Anne J.; Ge, Dongliang; Snieder, Harold; Spector, Timothy D.; Hammond, Christopher J.

    PURPOSE. To estimate the relative importance of genes and environment in peripapillary atrophy type beta (beta-PPA) in a classic twin study. METHODS. Female twin pairs (n = 506) aged 49 to 79 years were recruited from the St. Thomas' UK Adult Twin Registry. Peripapillary atrophy was identified from

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    International Nuclear Information System (INIS)

    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

  20. Spinal lipomatous malformations.

    Science.gov (United States)

    Jindal, A; Mahapatra, A K

    2000-05-01

    Spinal lipomatous malformations (SLM) include all the closed neural tube defects (NTD) with excessive lipomatous tissue in the spinal cord or filum terminale. We evaluated 65 cases of SLM seen & operated at our department in the last 7 years. Of these only 9 were asymptomatic and 8 were below 2 years of age. There were more males than females. In addition to subcutaneous lipoma many patients also had hypertrichiosis and dermal sinus as cutaneous makes. Twenty patients had foot deformity and 5 had unilateral limb shortening. Sixty-two patients had MRI and 3 had CT myelogram for evaluation. These revealed 7 patients with Chiari malformations, 10 with focal syrinx and 2 patients underwent VP shunt for hydrocephalus. Sacral agenesis was seen in 5 patients. Clinical features were similar to other cases of spinal dysraphism except that sensory loss and trophic ulcer were more frequent. Intradural lipoma and tethering was seen in 18 cases whereas intramedullary lipoma & conus lipoma was seen in 40 & 7 cases respectively. Additional tethering lesion was seen in 1/3 cases and was treated simultaneously. Preoperative deficits improved in 28 cases and stabilized in 33 cases. Three patients developed fresh deficits after surgery. We observed 8 CSF leaks and 4 wound infections in postoperative period. It is very clear from our data that a patient has about 95% chances that his neurological status may improve or stabilize following surgery and the risk of developing fresh deficits is about 5%. We, therefore, suggest that all patients of SLM should be treated with aggressive surgical management for best results.

  1. Imaging of the cloacal malformation

    International Nuclear Information System (INIS)

    Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

    1989-01-01

    Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

  2. Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants.

    Science.gov (United States)

    Arcos-Machancoses, Jose Vicente; Marín-Reina, Purificación; Romaguera-Salort, Eugenia; García-Camuñas, Yolanda; Pérez-Aytés, Antonio; Vento, Máximo

    2015-02-01

    The presence of a single umbilical artery (SUA) is a fetal soft marker of congenital abnormalities. Among the most common related malformations, there are cardiological, nephrourological and digestive anomalies, most of which are considered to have a vascular etiology. There is an association between increased incidence of intrauterine growth retardation and adverse perinatal indicators, but whether this association is due to related anomalies or isolated SUA (iSUA) is controvisal. We reviewed 96 cases of iSUA and non-isolated SUA (niSUA), diagnosed in a period of two years in a referral hospital for high-risk pregnancies. Data on prenatal explorations, including fetal ultrasonography and karyotyping, were obtained. niSUA was diagnosed when no malformations were found prenatally or in postnatal evaluation. Sixty-six newborns (68.8%) had no other anomalies and 30 (31.3%) presented with a variety of malformations including heart diseases, urophaties, digestive, nervous and musculoskeletal disorders, genetic abnormalities and complex malformations. Cardiological and nephrourological abnormalities were found to be the most frequent association with a SUA (both in 23.8% of malformed SUA newborns). Intrauterine growth restriction was not higher in iSUA newborns than in a normal population. Ultrasound allowed optimal prenatal diagnosis in most cases. The prognosis of the fetus with a SUA is determined by the presence of other malformations observed by an expert sonographer. If no other findings are made, only a routine physical examination should be performed in newborns, but no other complementary examinations are required.

  3. Pulmonary arteriovenous malformations.

    Science.gov (United States)

    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.

  4. Radiosurgery of arteriovenous malformations

    International Nuclear Information System (INIS)

    Kawamoto, Shunsuke

    1994-01-01

    Steiner has first published a report of a case of cerebral arteriovenous malformation (AVM) treated with gamma knife radiosurgery in 1972. Since the mid-1980s, radiosurgery has increasingly received much attention. There have already been more than 6,000 radiosurgically treated AVM cases. This article reviews radiosurgery in the context of the following: (1) radiosurgery according to gamma knife, linear accelerator, heavy-charged particle Bragg-peak radiation and neutron; (2) therapeutic outcome in view of angiographically proven complete obliteration (CO) of AVM, including the time required for CO and factors regulating CO (such as the volume of AVM, radiation doses, correlation between the volume of AVM and radiation doses, age, and site of AVM), histopathological findings, and clinical complaints (such as headache and epilepsy) after radiosurgery; (3) bleeding after radiosurgery; (4) complications (including angiography-related complications, those immediately after radiosurgery, delayed complications, factors influencing delayed complications, and endocrine or growth retardation); (5) other problems (such as radiation doses, follow-up strategy, approaches to giant AVMs, and repeat irradiation); (6) indication of radiosurgery for lesions other than brain stem, and lesions of the mid-brain, pons and bulb. (N.K.) 134 refs

  5. Vascular anomalies of the upper limb

    Directory of Open Access Journals (Sweden)

    G Balakrishnan

    2011-01-01

    Full Text Available Vascular anomalies of the upper extremity are a surgical challenge to the hand surgeons. The treatment modality varies with respect to the presentation, extent of the lesion, progression and their complications. Based on our experience in treating patients with vascular malformations, a protocol has been formulated for their management, which we have found to be very useful and successful. With the use of the tumescent technique and good planning, haemangiomas are best excised in infancy or early childhood. Investigations like contrast computed tomography and magnetic resonance imaging have been found to be a useful tool in the diagnosis and planning of surgery for venous malformations. Embolisation seems to be a safe option in arteriovenous malformations.

  6. Ethanol embolization of auricular arteriovenous malformations

    International Nuclear Information System (INIS)

    Fan Xindong; Zheng Lianzhou; Yi Hongying; Su Lixin; Zheng Jiawei

    2009-01-01

    Objective: To present the authors' initial experience of treating auricular arteriovenous malformations(AVMs) with ethanol embolization and to assess the clinical effectiveness of this therapeutic method. Methods: Twenty-two patients with AVMs were enrolled in this study. Through local puncturing or super-selective catheterization the absolute ethanol,or diluted alcohol (based on the pattern of the AVMs), was manually injected into the abnormal vascular plexus of the auricular lesion. The clinical results were estimated with physical examination or angiography at intervals of 3-4 month, and telephone questionnaire was made at monthly intervals for all patients. Results: Thirty-eight ethanol embolization procedures were performed, the amount of ethanol used during the procedure ranged from 4 ml to 65 ml. After the treatment the clinical symptoms were improved, which were manifested as healing of the ulceration, stop of bleeding, disappearing or alleviation of tinnitus. Angiographic examination showed that the abnormal vascular lesion was completely vanished in 9 cases, decreased by 50%-75% in 8 cases and decreased less than 50% in remaining 5 cases. The common complications included irreversible local necrosis and vesiculation. Conclusion: For the treatment of auricular AVMs ethanol embolization is an effective and safe method,which might become the therapy of first choice. (authors)

  7. The Active Malformations Surveillance Program, Boston in 1972-2012: Methodology and demographic characteristics.

    Science.gov (United States)

    Holmes, Lewis B; Nasri, Hanah; Westgate, Marie-Noel; Toufaily, M Hassan; Lin, Angela E

    2018-01-01

    Malformations surveillance programs have been carried out in consecutive populations of newborn infants at single hospitals, as well as in several hospitals in defined populations. A surveillance program begins with the review of the findings recorded by the examining pediatrician in each infant's medical record. The results of diagnostic tests, consultations, and imaging studies are obtained, also, from that infant's medical record. Some malformations surveillance programs identify additional malformations over several months, as the infants have hospitalizations and additional diagnostic testing. 289,365 infants (liveborn, stillborn, and fetuses in pregnancies terminated because of anomalies) were surveyed from 1972 to 2012 at an urban maternity center in Boston to identify each infant with one or more malformations. Each mother was interviewed to obtain demographic characteristics, results of prenatal testing, family history, and information about exposures in pregnancies. Specific diagnoses were established by the study geneticists. 7,020 (2.4%) of the 289,365 infants surveyed had one or more malformations. The etiologies identified included chromosome abnormalities, phenotypes attributed to dominant or recessive autosomal or X-linked mutations, vascular disruption, environmental factors, and complications of twinning. The surveillance of a large consecutive population of newborn infants, stillbirths, and aborted fetuses can identify with high reliability all infants with one or more malformations. This process of ascertainment of affected newborns can be used to improve genetic counseling, identify "new" phenotypes, and serve as a system for testing new technologies to establish more causes of congenital malformations. © 2018 Wiley Periodicals, Inc.

  8. Colonic atresia and anorectal malformation in a Haitian patient: a case study of rare diseases.

    Science.gov (United States)

    Derenoncourt, Max Herby; Baltazar, Gerard; Lubell, Tamar; Ruscica, Alice; Sahyoun, Cyril; Velcek, Francisca

    2014-01-01

    Colonic atresia and anorectal malformation are rare congenital anomalies individually. Few reports of the conditions combined in a single patient have been published in the literature. Neither colonic atresia, anorectal malformation or a combination of the disorders has previously been reported in the Haitian population. A 5-day-old female presented with feculent emesis, failure to pass stool since birth and an imperforate and stenotic anus. Exploratory laparotomy revealed colorectal atresia distal to a malformed cecum and a Wingspread low subtype anorectal malformation without any associated urogenital fistulae. Temporizing percutaneous ileal drainage was followed by second-stage anal perforation and dilation, ileal J-pouch and pull through. This is the first reported case of colonic atresia, anorectal malformation or the combination of the disorders among the Haitian population and one of only a handful of such cases reported worldwide. Although vascular accidents in utero have been implicated as the etiology of colonic atresia, simultaneous presence of anorectal malformation suggests a multifactorial cause. Investigation for multisystem abnormalities is warranted. Two-staged operative correction is considered the best treatment; however, long-term postoperative outcomes are uncertain. The coexistence of colonic atresia and anorectal malformation is a very rare occurrence and presents unique clinical and operative challenges. Investigation for additional congenital abnormalities is appropriate, and although two-stage operative correction is considered the best treatment, long-term outcomes are uncertain.

  9. Activity patterns in malformed fetuses.

    Science.gov (United States)

    Rayburn, W F; Barr, M

    1982-04-15

    Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.

  10. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    Directory of Open Access Journals (Sweden)

    Nikolaos Mouchtouris

    2015-01-01

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

  11. MRI of cardiovascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kastler, Bruno [Centre Hospitalier Univ. Jean Minjoz, Besancon (France); Universite de Franche-Comte, Besancon (FR). Lab. I4S (Health, Innovation, Intervention, Imaging, Engineering); Centre Hospitalier Sherbrooke Univ., PQ (Canada). Dept. of Radiology

    2011-07-01

    MRI is a non-invasive and non-ionizing imaging modality that is perfectly suited for the diagnosis and follow-up of both pediatric and adult congenital heart disease. It provides a large field of view and has the unique ability to depict complex cardiac and vascular anatomy and to measure cardiac function and flow within one examination. MRI is the ideal complement to echocardiography whenever the information provided by the latter is limited. This book has been conceived as a self-teaching manual that will assist qualified radiologists, cardiologists, and pediatricians, as well as those in training. It is richly illustrated with numerous images and drawings that cover all usual and most unusual anomalies. The principal author, Professor Bruno Kastler, is head of radiology at Besancon University Hospital, France and is board certified in both radiology and cardiology. (orig.)

  12. Arteriovenous malformation of the mandible

    International Nuclear Information System (INIS)

    Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

    1995-01-01

    The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

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

    Science.gov (United States)

    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.

  14. Venous thrombosis and coagulation parameters in patients with pure venous malformations

    NARCIS (Netherlands)

    van Es, J.; Kappelhof, N. A.; Douma, R. A.; Meijers, J. C. M.; Gerdes, V. E. A.; van der Horst, C. M. A. M.

    2017-01-01

    Venous malformations (VMs) are ubiquitous, low-flow vascular anomalies known to be occasionally painful due to thrombotic episodes within the lesion. The prevalence of superficial or deep vein thrombosis is unclear. A cross-sectional study among outpatients aged ≥ 12 years with pure VMs was

  15. [Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

    Science.gov (United States)

    Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

    2016-01-01

    Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

  16. Screening for pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Oxhøj, H; Kjeldsen, A D; Nielsen, G

    2000-01-01

    Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...

  17. Contemporary vascular smartphone medical applications.

    Science.gov (United States)

    Carter, Thomas; O'Neill, Stephen; Johns, Neil; Brady, Richard R W

    2013-08-01

    Use of smartphones and medical mHealth applications (apps) within the clinical environment provides a potential means for delivering elements of vascular care. This article reviews the contemporary availability of apps specifically themed to major vascular diseases and the opportunities and concerns regarding their integration into practice. Smartphone apps relating to major vascular diseases were identified from the app stores for the 6 most popular smartphone platforms, including iPhone, Android, Blackberry, Nokia, Windows, and Samsung. Search terms included peripheral artery (arterial) disease, varicose veins, aortic aneurysm, carotid artery disease, amputation, ulcers, hyperhydrosis, thoracic outlet syndrome, vascular malformation, and lymphatic disorders. Forty-nine vascular-themed apps were identified. Sixteen (33%) were free of charge. Fifteen apps (31%) had customer satisfaction ratings, but only 3 (6%) had greater than 100. Only 13 apps (27%) had documented medical professional involvement in their design or content. The integration of apps into the delivery of care has the potential to benefit vascular health care workers and patients. However, high-quality apps designed by clinicians with vascular expertise are currently lacking and represent an area of concern in the mHealth market. Improvement in the quality and reliability of these apps will require the development of robust regulation. Copyright © 2013 Elsevier Inc. All rights reserved.

  18. A Patient With PHACE Syndrome With Marked Ipsilateral Cerebral Atrophy

    Directory of Open Access Journals (Sweden)

    Nan-Koong Wang

    2010-04-01

    Full Text Available The association of posterior fossa malformation, facial cavernous hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects and eye abnormalities (PHACE syndrome represents a rare congenital anomaly with a broad spectrum of clinical manifestations and female predominance. We herein report on a girl who manifested the typical clinical features of PHACE syndrome, unusually associated with severe ipsilateral cerebral atrophy and hemiplegia. She received surgical aortoplasty, local steroid injection and laser therapy for the hemangioma, and intense physical therapy soon after diagnosis. The etiology of PHACE syndrome remains unclear, and its clinical spectrum is broad. The current case suggests that the spectrum of PHACE syndrome should be further expanded to include other forms of cerebral disorder.

  19. Craniofacial Vascular Malformations in Wyburn-Mason Syndrome

    Directory of Open Access Journals (Sweden)

    Chao-Bao Luo

    2006-12-01

    Conclusion: WMS has a wide spectrum of multiple AVMs involving unilateral or bilateral craniofacial regions. The most common involved site is the orbit, followed by the brain. WMS should be considered in patients with ocular AVMs associated with brain AVMs.

  20. Valproate-Induced Congenital Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-07-01

    Full Text Available The risk of congenital malformations in infants of women with epilepsy treated with antiepileptic drugs (AEDs during the first trimester of pregnancy and in those whose mothers had discontinued AEDs before pregnancy was compared in a study at the Universities of Tampere and Oulu, Finland.

  1. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  2. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  3. Vascular Cures

    Science.gov (United States)

    ... vascular disease, such as stroke, aneurysm and pulmonary artery disease. Each one has their own unique story about their battle with vascular disease and their road to recovery. SEE PATIENT STORIES Our Supporters Caring ...

  4. Types of SMA (Spinal Muscular Atrophy)

    Science.gov (United States)

    ... genes other than the SMN1 gene. Spinal Muscular Atrophy Respiratory Distress (SMARD) SMARD is a very rare ... and 50. It causes muscle weakness and wasting (atrophy) throughout the body, which is most noticeable in ...

  5. Hemifacial atrophy treated with autologous fat transplantation

    Directory of Open Access Journals (Sweden)

    Gandhi Vijay

    2005-01-01

    Full Text Available A 23-year-old male developed right hemifacial atrophy following marphea profunda. Facial asymmetry due to residual atrophy was treated with autologous fat harvested from buttocks with marked cosmetic improvement.

  6. Omphalocele and gastroschisis and associated malformations.

    Science.gov (United States)

    Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

    2008-05-15

    The etiology of gastroschisis and omphalocele is unclear and their pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with omphalocele and gastroschisis, we assessed these associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 86 patients with omphalocele, 64 (74.4%) had associated malformations. These included patients with chromosomal abnormalities (25, 29.0%); non-chromosomal syndromes including Beckwith-Wiedemann syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, Oto-palato-digital type II syndrome, CHARGE syndrome, and fetal valproate syndrome; malformation sequences, including ectopia cordis, body stalk anomaly, exstrophy of bladder, exstrophy of cloaca, and OEIS (Omphalocele, Exstrophy of bladder, Imperforate anus, Spinal defect); malformation complexes including Pentalogy of Cantrell, and non-syndromic multiple congenital anomalies (MCA) (26, 30.2%). Malformations of the musculoskeletal system (31, 23.5%), urogenital system (27, 20.4%), cardiovascular system (20, 15.1%), and central nervous system (12, 9.1%) were the most common other congenital malformations in patients with omphalocele and non-syndromic MCA. Of the 60 patients with gastroschisis, 10 (16.6%) had associated malformations. In contrast to omphalocele, gastroschisis was rarely associated with a complex pattern of malformation, that is, one each (1.7%) with a chromosomal abnormality (trisomy 21), sequence (amyoplasia congenita), unspecified dwarfism, and 7 (11.7%) with MCA. We observed a striking difference in the prevalence of total malformations (74.4% vs. 16.6%, P < 0.001) and specific patterns of malformations associated with omphalocele and gastroschisis which emphasizes the need to evaluate all patients with omphalocele and gastroschisis for possible associated malformations. Malformation surveillance programs should be aware that the

  7. High-field MR imaging of spinal cord vascular lesions

    International Nuclear Information System (INIS)

    Blas, C.; Halimi, P.; Sigal, R.; Doyon, D.; Hurth, M.

    1986-01-01

    MR imaging (1.5T) was performed in 20 patients with spinal cord vascular malformations and hemangioblastomas. MR imaging findings were correlated with data obtained by other imaging modalities (myelography, CT and selective angiography). A diagnosis of vascular legions was suspected or established in 15 patients. Seven had a history of embolization or surgery prior to MR imaging. Six of seven hemangioblastomas were detected on MR imaging. The diagnosis was incorrect in one case because of the small size of the hemangioblastoma nodule, although the cystic part of the lesion was correctly identified. In three cases, the diagnosis was made first on MR imaging and then confirmed on angiography and surgery. Eleven vascular malformations were studied. Malformative thrombosis was found in four of the 11, as suggested by high-intensity signals on T1- and T2-weighted images

  8. Diverse Imaging characteristics of a mandibular intraosseous vascular lesion

    Energy Technology Data Exchange (ETDEWEB)

    Handa, Hina; Naidu, Giridhar S.; Dara, Balaji Gandhi Babu; Deshpande, Ashwini; Raghavendra, Raju [Peoples Dental Academy, Bhopal (Iran, Islamic Republic of)

    2014-03-15

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

  9. Birt-Hogg-Dube syndrome accompanied by pulmonary arteriovenous malformation.

    Science.gov (United States)

    Matsutani, Noriyuki; Dejima, Hitoshi; Takahashi, Yusuke; Uehara, Hirofumi; Iinuma, Hisae; Tanaka, Fumihiko; Kawamura, Masafumi

    2016-10-01

    A 25-year-old male with Birt-Hogg-Dube (BHD) syndrome who developed hemothorax caused by ruptured of pulmonary arteriovenous malformation was reported. The patient was admitted to the hospital due to chest pain. A chest X-ray showed pleural fluid in his left lung, and a chest CT showed the presence of a tumor with enhanced contrast in the lower left lobe of approximately 5 cm in a diameter. Pleural fluid was collected by tap and indicated the presence of blood; therefore, hemothorax was suspected. Thoracoscopic surgery was performed to remove the mass for homostasis. Pathological findings indicated that the resected tumor-like lesion was an intrapulmonary hematoma, and aggregated vascular vessels of various diameters forming incomplete media elastic lamina was observed around the hematoma; therefore, it was diagnosed as pulmonary arteriovenous malformation. Family history of the patient indicated the presence of pneumothorax and malignant diseases, and the patient presented with papules and multiple pulmonary cysts. The genetic test revealed a deletion of exon 11 of the BHD gene; therefore, the patient was diagnosed with BHD syndrome. This report is the first to describe BHD syndrome accompanied by pulmonary arteriovenous malformation.

  10. Endovascular venous approach in the treatment of ruptured intra-cerebral arterio-venous malformation

    Directory of Open Access Journals (Sweden)

    Ayman Z. Ahmed

    2014-06-01

    Full Text Available Trans-venous approach has been described for endovascular treatment of many vascular lesions namely the intracranial dural, cavernous and intra-orbital malformations. A patient with a ruptured left deep parietal arteriovenous malformation (AVM treated with primary transvenous Onyx 18 embolization is reported. Trans-arterial approaches were unsuccessful because of the tiny tortuous feeding arteries and hence a transvenous approach was used for embolization. Follow-up angiography at 3 month revealed persistent angiographic cure of the AVM. Our case illustrates that in patients with ruptured small AVM having a single draining vein, transvenous treatment can be utilized to achieve occlusion resulting in AVM cure.

  11. Isolated sixth nerve palsy from hemorrhage of a pontine cavernous malformation.

    Science.gov (United States)

    Mallery, Robert M; Klein, Joshua P; Pless, Misha L

    2012-12-01

    A 32-year-old woman who developed binocular horizontal diplopia was found to have an isolated fascicular sixth nerve palsy secondary to hemorrhage of a cavernous malformation within the left pontine tegmentum. There was sparing of the paramedian pontine reticular formation and absence of a horizontal gaze palsy. The natural history of cavernous malformations and a mechanism by which hemorrhage of these vascular lesions may produce minimal neurologic signs, including isolated ocular motor cranial nerve palsies, is discussed. Magnetic resonance imaging (MRI) that includes susceptibility-weighted sequences leads to their accurate diagnosis.

  12. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    Brachner, A.; Grosche, B.

    1991-10-01

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG) [de

  13. [Chromosome aberrations in malformed newborns].

    Science.gov (United States)

    Centeno Malfaz, F; Beltrán Pérez, A; Ruiz Labarga, C; Centeno Robles, T; Macías Pardal, J; Martín Bermejo, M

    2001-06-01

    To determine the prevalence of chromosome abnormalities in malformed newborn infants and to analyze the distribution of the types of anomalies, and the variation in their frequency with maternal age. We used the data collected according to the Spanish Collaborative Study of Congenital Malformations (ECEMC) methodology from March 1982 -September 1996. Of 33,562 newborns (live and stillborn), 1,409(4.1%) malformed infants were identified. A total of 332 karyotypes were performed in peripheral blood, representing 23.5% of the newborns with congenital defects. Results The frequency at birth of chromosome abnormalities was 5.4% of malformed newborns. There were 59 infants with Down's syndrome, 6 with trisomy 18, 3 with Turner's syndrome, 2 with trisomy 13, 2 with "Triple X", 1 tetraploidy, 1 triploidy, 1 trisomy 9 p, and 1 infant with a complex XXY mosaicism. The prevalence of Down's syndrome in the general population is 0.17%. The mean age of mothers with Down's syndrome infants was 34.2 years and paternal age was 36 years, and a non-statistically significant diminishing trend in mean maternal age was observed during the course of the study. The prevalence of Down's syndrome was higher in mothers aged more than 35 years. A non-statistically significant increase of the prevalence of Down's syndrome in newborns with mothers aged between 31 and 34 years was observed with time. The mean number of previous pregnancies was 2.81. Among a total of 49 mothers and fathers, two chromosome alterations were found. The prevalence of chromosome abnormalities in newborns with birth defects was 5.4%. The frequency of Down's syndrome was higher. Down's syndrome was more prevalent in mothers aged more than 35 years. The mean maternal age of Down's syndrome infants gradually diminished, and accumulated between the ages of 31 and 34 years.

  14. Headache in children with Chiari I malformation.

    Science.gov (United States)

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  15. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  16. MRI phenotypes of localized intravascular coagulopathy in venous malformations

    International Nuclear Information System (INIS)

    Koo, Kevin S.H.; Dowd, Christopher F.; Hess, Christopher P.; Mathes, Erin F.; Frieden, Ilona J.; Rosbe, Kristina W.; Hoffman, William Y.

    2015-01-01

    The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

  17. MRI phenotypes of localized intravascular coagulopathy in venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Koo, Kevin S.H. [Boston Children' s Hospital, Department of Radiology, Boston, MA (United States); Dowd, Christopher F.; Hess, Christopher P. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Mathes, Erin F.; Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, San Francisco, CA (United States); Rosbe, Kristina W. [University of California, San Francisco, Department of Otolaryngology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Surgery, San Francisco, CA (United States)

    2015-10-15

    The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

  18. Neuronal involvement in muscular atrophy

    Directory of Open Access Journals (Sweden)

    Bruno Alejandro Cisterna

    2014-12-01

    Full Text Available The innervation of skeletal myofibers exerts a crucial influence on the maintenance of muscle tone and normal operation. Consequently, denervated myofibers manifest atrophy, which is preceded by an increase in sarcolemma permeability. Recently, de novo expression of hemichannels formed by connexins and other none selective channels, including P2X7 receptors, TRPV2 channels were demonstrated in denervated fast skeletal muscles. The denervation-induced atrophy was drastically prevented in denervated muscles deficient in connexins 43 and 45. Nonetheless, the transduction mechanism by which the nerve represses the expression of the above mentioned none selective channels remains unknown. The paracrine action of extracellular signaling molecules including ATP, neurotrophic factors (i.e., BDNF, agrin/Lrp4/MuSK and acetylcholine are among the possible perpetrators of repression for connexin expression. This review discusses the possible role of relevant factors in maintaining the normal functioning of fast skeletal muscles and suppression of connexin hemichannel expression.

  19. Internal anal sphincter atrophy in patients with systemic sclerosis.

    Science.gov (United States)

    Thoua, Nora M; Schizas, Alexis; Forbes, Alastair; Denton, Christopher P; Emmanuel, Anton V

    2011-09-01

    SSc is a connective tissue, multisystem disorder of unknown aetiology. The gastrointestinal tract (GIT) is affected in up to 90% of patients. The exact pathophysiology of GIT involvement is not known, but it is related to both neurogenic and myogenic abnormalities as well as possible vascular and ischaemic changes. Thinning of the internal anal sphincter (IAS) has been demonstrated in SSc with faecal incontinence. We aimed to investigate anal sphincter structure in patients with SSc. Forty-four SSc patients [24 symptomatic (Sx) and 20 asymptomatic (ASx)] and 20 incontinent controls (ICs) were studied. Patients underwent anorectal manometry and endoanal US. In the ICs, external anal sphincter defects were more common, but the IAS was less atrophic, evident by both atrophy scores and IAS thickness. There was no significant difference in atrophy scores [Sx: 2 (1.5-3) vs ASx: 2 (1-2)] or IAS thickness [Sx: 1.85 (1.5-2.3) vs ASx: 1.8 (1.7-2.25)] between the Sx and ASx SSc patients. Patients with SSc (both Sx and ASx) have thin and atrophic IAS, suggesting that IAS atrophy develops even in ASx patients and this may be amenable to treatment with sacral neuromodulation.

  20. Lobar atrophy without Pick bodies.

    Science.gov (United States)

    Hulette, C M; Crain, B J

    1992-01-01

    Four patients from the Kathleen Price Bryan Brain Bank with clinical Pick's syndrome are presented. Thorough neurological evaluation revealed no evidence of a movement disorder. The brains showed marked knife-blade type atrophy of the frontal and temporal lobes with relative sparing of the superior temporal gyrus and parietal and occipital lobes. There was marked caudate atrophy in all four. Histologically there was severe neuronal loss and gemistocytic astrocytosis in the involved areas with marked myelin pallor in the deep white matter and subcortical gliosis. There was sometimes marked spongiform change in cortical layer 2. There was severe neuronal loss and gliosis of the caudate nucleus. The gross and microscopic features were characteristic of Pick's disease except that careful search failed to uncover either Pick's bodies or Pick's cells. Review of the literature revealed that fronto-temporal cortical and caudate atrophy with clinical features of Pick's disease has received many different names including Pick's disease type C, Pick's disease type II, progressive subcortical gliosis, presenile glial dystrophy, long duration Creutzfeldt-Jakob disease, frontal lobe degeneration, dysphasic dementia, and dementia lacking distinctive histologic features. Nevertheless, the morphologic findings in the present cases so closely resemble Pick's disease that they may well represent endstage Pick's disease. In our experience, such cases account for a significant proportion of non-Alzheimer disease dementia.

  1. Diabetes mellitus, hypertension and medial temporal lobe atrophy: the LADIS study

    DEFF Research Database (Denmark)

    Korf, E S C; van Straaten, E C W; de Leeuw, F-E

    2007-01-01

    was visually scored for the left and right medial temporal lobe (score 0-4), and meaned. RESULTS: Mean age was 73.5 years (sd 5.1), 54% was female. Of the subjects, 15% had DM, and 70% had a history of hypertension. The likelihood of having MTA score 3 was significantly higher in subjects with DM (OR 2.9; 95......HYPOTHESIS: Based on recent findings on the association between vascular risk factors and hippocampal atrophy, we hypothesized that hypertension and diabetes mellitus (DM) are associated with medial temporal lobe atrophy (MTA) in subjects without disability, independent of the severity of white...

  2. Stroke injury, cognitive impairment and vascular dementia☆

    Science.gov (United States)

    Kalaria, Raj N.; Akinyemi, Rufus; Ihara, Masafumi

    2016-01-01

    The global burden of ischaemic strokes is almost 4-fold greater than haemorrhagic strokes. Current evidence suggests that 25–30% of ischaemic stroke survivors develop immediate or delayed vascular cognitive impairment (VCI) or vascular dementia (VaD). Dementia after stroke injury may encompass all types of cognitive disorders. States of cognitive dysfunction before the index stroke are described under the umbrella of pre-stroke dementia, which may entail vascular changes as well as insidious neurodegenerative processes. Risk factors for cognitive impairment and dementia after stroke are multifactorial including older age, family history, genetic variants, low educational status, vascular comorbidities, prior transient ischaemic attack or recurrent stroke and depressive illness. Neuroimaging determinants of dementia after stroke comprise silent brain infarcts, white matter changes, lacunar infarcts and medial temporal lobe atrophy. Until recently, the neuropathology of dementia after stroke was poorly defined. Most of post-stroke dementia is consistent with VaD involving multiple substrates. Microinfarction, microvascular changes related to blood–brain barrier damage, focal neuronal atrophy and low burden of co-existing neurodegenerative pathology appear key substrates of dementia after stroke injury. The elucidation of mechanisms of dementia after stroke injury will enable establishment of effective strategy for symptomatic relief and prevention. Controlling vascular disease risk factors is essential to reduce the burden of cognitive dysfunction after stroke. This article is part of a Special Issue entitled: Vascular Contributions to Cognitive Impairment and Dementia edited by M. Paul Murphy, Roderick A. Corriveau and Donna M. Wilcock. PMID:26806700

  3. Associated malformations in patients with anorectal anomalies.

    Science.gov (United States)

    Stoll, C; Alembik, Y; Dott, B; Roth, M P

    2007-01-01

    Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple congenital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes-Brocks, Walker-Warburg, Ivemark, Fetal alcohol, Klippel-Feil, Pallister-Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1%) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to 1 in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases.

  4. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  5. Pulmonary vascular complications of hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Circo, Sebastian; Gossage, James R

    2014-09-01

    The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmonary vascular complications associated with hereditary haemorrhagic telangiectasia (HHT): pulmonary arteriovenous malformations (PAVMs), pulmonary arterial hypertension (PAH), pulmonary hypertension associated with high output cardiac failure or liver vascular malformations, haemoptysis, haemothorax and thromboembolic disease. Transthoracic contrast echocardiography has been validated as a screening tool for PAVM in patients with suspected HHT. Advancements in genetic testing support its use in family members at risk as a cost-effective measure. Therapy with bevacizumab in patients with high output cardiac failure and severe liver AVMs showed promising results. PAH tends to be more aggressive in HHT type 2 patients. Patients suffering from this elusive disease should be referred to HHT specialized centres to ensure a standardized and timely approach to diagnosis and management.

  6. Congenital Retinal Macrovessel and the Association of Retinal Venous Malformations With Venous Malformations of the Brain.

    Science.gov (United States)

    Pichi, Francesco; Freund, K Bailey; Ciardella, Antonio; Morara, Mariachiara; Abboud, Emad B; Ghazi, Nicola; Dackiw, Christine; Choudhry, Netan; Souza, Eduardo Cunha; Cunha, Leonardo Provetti; Arevalo, J Fernando; Liu, T Y Alvin; Wenick, Adam; He, Lingmin; Villarreal, Guadalupe; Neri, Piergiorgio; Sarraf, David

    2018-04-01

    Congenital retinal macrovessel (CRM) is a rarely reported venous malformation of the retina that is associated with venous anomalies of the brain. To study the multimodal imaging findings of a series of eyes with congenital retinal macrovessel and describe the systemic associations. In this cross-sectional multicenter study, medical records were retrospectively reviewed from 7 different retina clinics worldwide over a 10-year period (2007-2017). Patients with CRM, defined as an abnormal, large, macular vessel with a vascular distribution above and below the horizontal raphe, were identified. Data were analyzed from December 2016 to August 2017. Clinical information and multimodal retinal imaging findings were collected and studied. Pertinent systemic information, including brain magnetic resonance imaging findings, was also noted if available. Of the 49 included patients, 32 (65%) were female, and the mean (SD) age at onset was 44.0 (20.9) years. A total of 49 eyes from 49 patients were studied. Macrovessel was unilateral in all patients. Color fundus photography illustrated a large aberrant dilated and tortuous retinal vein in all patients. Early-phase frames of fluorescein angiography further confirmed the venous nature of the macrovessel in 40 of 40 eyes. Optical coherence tomography angiography, available in 17 eyes (35%), displayed microvascular capillary abnormalities around the CRM, which were more evident in the deep capillary plexus. Of the 49 patients with CRM, 39 (80%) did not illustrate any evidence of ophthalmic complications. Ten patients (20%) presented with retinal complications, typically an incidental association with CRM. Twelve patients (24%) were noted to have venous malformations of the brain with associated magnetic resonance imaging. Of these, location of the venous anomaly in the brain was ipsilateral to the CRM in 10 patients (83%) and contralateral in 2 patients (17%), mainly located in the frontal lobe in 9 patients (75%). Our study has

  7. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  8. Giant congenital malformation of the perirectal plexus in computed tomography imaging – case report

    International Nuclear Information System (INIS)

    Kędzierski, Bartłomiej; Nowak, Grzegorz; Kuśmierska, Małgorzata; Jaźwiec, Przemysław; Szuba, Andrzej

    2013-01-01

    Congenital arteriovenous malformation (AVM) in the pelvic area is uncommon in males. The described case is of a giant lesion of this type that caused recurrent hemorrhaging in the lower part of the gastrointestinal tract. Preliminary diagnosis of vascular pathology was made on the basis of an endoscopic examination that revealed numerous pulsating protuberances of the rectal wall, in which blood flow was identified by means of transrectal ultrasonography. Complementing the diagnostics with a CT revealed a considerable extent of malformation, as well as its morphology and anatomical relations with the surrounding tissues. Following a two-year follow-up period, the malformation did not progress or demonstrate any intensification of clinical symptoms, therefore the patient continues to undergo conservative treatment

  9. Management of Pulmonary Arteriovenous Malformations

    Science.gov (United States)

    Meek, Mary E.; Meek, James C.; Beheshti, Michael V.

    2011-01-01

    Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up. PMID:22379273

  10. Embolization of spinal arteriovenous malformations

    International Nuclear Information System (INIS)

    Son, Mi Young; Kim, Sun Yong; Park, Bok Hwan

    1990-01-01

    Recently, therapeutic embolization has been advocated as the treatment of choice for spinal AVM(arteriovenous malformations). The authors review our experience with two cases of spinal AVM treated by embolization using coaxial Tracker-18 microcatheter with Latvian. The patients included a 10 year old male with glomus type and a 14 year old female with juvenile type spinal AVM revealed recanalization 5 month later. Embolization provides curative or temporary treatment for spinal AVM. After embolic occlusion, delayed reassessment with arteriography is indicated, particularly if symptoms persist or recur

  11. Thymic Atrophy: Experimental Studies and Therapeutic Interventions.

    Science.gov (United States)

    Majumdar, S; Nandi, D

    2018-01-01

    The thymus is essential for T cell development and maturation. It is extremely sensitive to atrophy, wherein loss in cellularity of the thymus and/or disruption of the thymic architecture occur. This may lead to lower naïve T cell output and limited TCR diversity. Thymic atrophy is often associated with ageing. What is less appreciated is that proper functioning of the thymus is critical for reduction in morbidity and mortality associated with various clinical conditions including infections and transplantation. Therefore, therapeutic interventions which possess thymopoietic potential and lower thymic atrophy are required. These treatments enhance thymic output, which is a vital factor in generating favourable outcomes in clinical conditions. In this review, experimental studies on thymic atrophy in rodents and clinical cases where the thymus atrophies are discussed. In addition, mechanisms leading to thymic atrophy during ageing as well as during various stress conditions are reviewed. Therapies such as zinc supplementation, IL7 administration, leptin treatment, keratinocyte growth factor administration and sex steroid ablation during thymic atrophy involving experiments in animals and various clinical scenarios are reviewed. Interventions that have been used across different scenarios to reduce the extent of thymic atrophy and enhance its output are discussed. This review aims to speculate on the roles of combination therapies, which by acting additively or synergistically may further alleviate thymic atrophy and boost its function, thereby strengthening cellular T cell responses. © 2017 The Foundation for the Scandinavian Journal of Immunology.

  12. Microvillous inclusion disease (microvillous atrophy

    Directory of Open Access Journals (Sweden)

    Goulet Olivier

    2006-06-01

    Full Text Available Abstract Microvillous inclusion disease (MVID or microvillous atrophy is a congenital disorder of the intestinal epithelial cells that presents with persistent life-threatening watery diarrhea and is characterized by morphological enterocyte abnormalities. MVID manifests either in the first days of life (early-onset form or in the first two months (late-onset form of life. MVID is a very rare disorder of unknown origin, probably transmitted as an autosomal recessive trait. To date, no prevalence data are available. Ultrastructural analyses reveal: 1 a partial to total atrophy of microvilli on mature enterocytes with apical accumulation of numerous secretory granules in immature enterocytes; 2 the highly characteristic inclusion bodies containing rudimentary or fully differentiated microvilli in mature enterocytes. Light microscopy shows accumulation of PAS-positive granules at the apical pole of immature enterocytes, together with atrophic band indicating microvillus atrophy and, in parallel, an intracellular PAS or CD10 positive line (marking the microvillous inclusion bodies seen on electron microscopy. Intestinal failure secondary to diarrhea is definitive. To date, no curative therapy exists and children with MVID are totally dependent on parenteral nutrition. Long-term outcome is generally poor, due to metabolic decompensation, repeated states of dehydration, infectious and liver complications related to the parenteral nutrition. As MVID is a very rare disorder, which is extremely difficult to diagnose and manage, children with MVID should be transferred to specialized pediatric gastro-intestinal centers, if possible, a center equipped to perform small bowel transplantation. Early small bowel transplantation resulting in intestinal autonomy gives new hope for disease management and outcome.

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

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    2011-05-01

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

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

    Science.gov (United States)

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

    2011-05-01

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

  15. Recurrent High-Flow Arterio-Venous Malformation of the Thyroid Gland.

    Science.gov (United States)

    Borchert, D H; Massmann, A; Kim, Y J; Bader, C A; Wolf, G; Eisele, R; Minko, P; Bücker, A; Glanemann, M

    2015-09-01

    Vascular malformations and hemangiomas of the thyroid gland are rare disorders. The first case of a patient with recurrent high-flow arterio-venous malformation of the right thyroid gland involving the right endolarynx is presented. In June 2013, a 42-year-old female patient presented to the surgical department with recurrent hoarseness and a soft, vibrating mass on the right side of her neck. In 1993, she underwent right subtotal hemithyroidectomy with embolization on the day before surgery for a high-flow arterio-venous malformation of the thyroid gland. Diagnostic work-up in 2013 demonstrated a complex recurrent high-flow arterio-venous malformation on the right side of her neck involving the endolarynx. Full function of the right vocal fold could not be ascertained. The lesion was embolized again and excised the following day. Intraoperative gross bleeding and scar tissue prevented visualization and monitoring of the recurrent laryngeal nerve. Gross bleeding was also noted on hemithyroidectomy after embolization in 1993. No therapy was needed for the endolaryngeal part of the lesion. Histology showed large arterio-venous malformations with thyroid tissue. She remains well without signs of recurrence 18 month later but with a definitive voice handicap. This is the first report of a recurrent high-flow arterio-venous malformation originally developing from the right thyroid gland involving the right endolarynx. Counseling, diagnostic, and therapeutic work-up of the patient was possible only with an interdisciplinary team. The endolaryngeal part of the hemangioma dried out after embolization and completion hemithyroidectomy. Her hoarseness has greatly improved but a definitive voice handicap remains. High-flow arterio-venous malformations of the thyroid gland are a rare disease, and recurrent lesions have not been reported. Interdisciplinary management of these patients is mandatory due to the complex nature of the underlying pathology. Recurrence might develop

  16. Are congenital malformations more frequent in fetuses with intrahepatic persistent right umbilical vein? A comparative study.

    Science.gov (United States)

    Adiego-Calvo, Ignacio; Saviron-Cornudella, Ricardo; Martinez-Payo, Cristina; Rubio-Aranda, Encarna; Sancho-Sauco, Javier; Cisneros-Gimeno, Ana Isabel; Perez-Perez, Pilar; Lerma-Puertas, Diego; Whyte-Orozco, Jaime

    2016-12-01

    Persistent right umbilical vein (PRUV) is a vascular anomaly where the right umbilical vein remains as the only conduit that returns oxygenated blood to the fetus. It has classically been described as associated with numerous defects. We distinguish the intrahepatic variant (better prognosis) and the extrahepatic variant (associated with worse prognosis). The objective of this study was to compare rates of congenital malformations in fetuses with intrahepatic PRUV (I-PRUV) versus singleton pregnancies without risk factors. A multicenter, crossover design, comparative study was performed between 2003 and 2013 on fetuses diagnosed with I-PRUV (n=56), and singleton pregnancies without congenital malformation risk factors (n=4050). Fifty-six cases of I-PRUV were diagnosed (incidence 1:770). A statistically significant association between I-PRUV and the presence of congenital malformations (odds ratio 4.321; 95% confidence interval 2.15-8.69) was found. This positive association was only observed with genitourinary malformations (odds ratio 3.038; 95% confidence interval 1.08-8.56). Our rate of malformations associated with I-PRUV (17.9%) is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis. Copyright © 2016. Published by Elsevier B.V.

  17. Ten-year detection rate of brain arteriovenous malformations in a large, multiethnic, defined population.

    Science.gov (United States)

    Gabriel, Rodney A; Kim, Helen; Sidney, Stephen; McCulloch, Charles E; Singh, Vineeta; Johnston, S Claiborne; Ko, Nerissa U; Achrol, Achal S; Zaroff, Jonathan G; Young, William L

    2010-01-01

    To evaluate whether increased neuroimaging use is associated with increased brain arteriovenous malformation (BAVM) detection, we examined detection rates in the Kaiser Permanente Medical Care Program of northern California between 1995 and 2004. We reviewed medical records, radiology reports, and administrative databases to identify BAVMs, intracranial aneurysms (IAs: subarachnoid hemorrhage [SAH] and unruptured aneurysms), and other vascular malformations (OVMs: dural fistulas, cavernous malformations, Vein of Galen malformations, and venous malformations). Poisson regression (with robust standard errors) was used to test for trend. Random-effects meta-analysis generated a pooled measure of BAVM detection rate from 6 studies. We identified 401 BAVMs (197 ruptured, 204 unruptured), 570 OVMs, and 2892 IAs (2079 SAHs and 813 unruptured IAs). Detection rates per 100 000 person-years were 1.4 (95% CI, 1.3 to 1.6) for BAVMs, 2.0 (95% CI, 1.8 to 2.3) for OVMs, and 10.3 (95% CI, 9.9 to 10.7) for IAs. Neuroimaging utilization increased 12% per year during the time period (PIAs (PIAs (PIAs in this large, multiethnic population were similar to those in other series. During 1995 to 2004, a period of increasing neuroimaging utilization, we did not observe an increased rate of detection of unruptured BAVMs, despite increased detection of unruptured IAs.

  18. Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Dompmartin, Anne; Barrellier, Marie-Therese [Universite de Caen Basse Normandie, CHU Caen, Department of Dermatology, Caen (France); Blaizot, Xavier; Chene, Yannick; Gaillard, Cathy [Universite de Caen Basse Normandie, CHU Caen, Clinical Research and Biostatistical Unit, Caen (France); Theron, Jacques [Universite de Caen Basse Normandie, CHU Caen, Neuroradiology, Caen (France); Hammer, Frank [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Department of Vascular and Interventional Radiology, Center for Vascular Anomalies, Brussels (Belgium); Labbe, Daniel [Universite de Caen Basse Normandie, CHU Caen, Plastic Surgery, Caen (France); Leroyer, Robert; Chedru, Valerie; Ollivier, Catherine [Universite de Caen Basse Normandie, CHU Caen, Pharmacy Department, Caen (France); Vikkula, Miikka [Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium); Boon, Laurence M. [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Division of Plastic Surgery, Center for Vascular Anomalies, Brussels (Belgium); Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium)

    2011-12-15

    To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. The mean Visual Analogue Scores were 5.20 {+-} 2.81 before and 1.52 {+-} 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. (orig.)

  19. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  20. Current concepts in the classification, diagnosis and treatment of vascular anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Ernemann, Ulrike, E-mail: ulrike.ernemann@med.uni-tuebingen.d [Department of Diagnostic and Interventional Neuroradiology, Radiological Clinic, University Hospital Tuebingen, Hoppe-Seyler-Strasse 3, 72076 Tuebingen (Germany); Kramer, Ulrich; Miller, Stephan [Department of Diagnostic and Interventional Radiology, Radiological Clinic, University Hospital Tuebingen (Germany); Bisdas, Sotirios [Department of Diagnostic and Interventional Neuroradiology, Radiological Clinic, University Hospital Tuebingen, Hoppe-Seyler-Strasse 3, 72076 Tuebingen (Germany); Rebmann, Hans [Department of Paediatrics, Children' s Hospital, University Hospital Tuebingen (Germany); Breuninger, Helmut [Department of Dermatology, University Hospital Tuebingen (Germany); Zwick, Christine [Department of Hand, Plastic, Reconstructive and Burns Surgery, BG Trauma Clinic Tuebingen, University Hospital Tuebingen (Germany); Hoffmann, Juergen [Department of Oral and Maxillofacial Surgery, University Hospital Tuebingen (Germany)

    2010-07-15

    Patients with extended vascular anomalies may suffer from significant aesthetic and functional impairment and represent a challenge to therapeutic planning, which is best met by an interdisciplinary concept. In agreement with the International Society for the Study of Vascular Anomalies (ISSVA), vascular lesions are classified into haemangiomas as proliferating endothelial tumours on the one hand and congenital vascular malformations on the other. According to the preponderant vascular channels and hemodynamic characteristics, malformations are subdivided into low flow (venous, lymphatic and capillary) lesions and high-flow malformations. Diagnostic imaging should be targeted at the specific structural and functional informations required for treatment planning. The imaging modality of choice to provide these informations is magnetic resonance imaging (MRI) supplemented by magnetic resonance angiography (MRA) with high spatial and temporal resolution. Treatment indications for haemangiomas depend on the proliferative behaviour of the lesion and comprise {beta}-blockers in order to induce involution as well as cryotherapy, laser and open surgery. Interventional radiological procedures have evolved as an essential element in an interdisciplinary treatment plan for vascular malformations and include percutaneous sclerotherapy with ethanol and OK-432 for venous and lymphatic malformations and transarterial embolization for high-flow lesions.

  1. Current concepts in the classification, diagnosis and treatment of vascular anomalies

    International Nuclear Information System (INIS)

    Ernemann, Ulrike; Kramer, Ulrich; Miller, Stephan; Bisdas, Sotirios; Rebmann, Hans; Breuninger, Helmut; Zwick, Christine; Hoffmann, Juergen

    2010-01-01

    Patients with extended vascular anomalies may suffer from significant aesthetic and functional impairment and represent a challenge to therapeutic planning, which is best met by an interdisciplinary concept. In agreement with the International Society for the Study of Vascular Anomalies (ISSVA), vascular lesions are classified into haemangiomas as proliferating endothelial tumours on the one hand and congenital vascular malformations on the other. According to the preponderant vascular channels and hemodynamic characteristics, malformations are subdivided into low flow (venous, lymphatic and capillary) lesions and high-flow malformations. Diagnostic imaging should be targeted at the specific structural and functional informations required for treatment planning. The imaging modality of choice to provide these informations is magnetic resonance imaging (MRI) supplemented by magnetic resonance angiography (MRA) with high spatial and temporal resolution. Treatment indications for haemangiomas depend on the proliferative behaviour of the lesion and comprise β-blockers in order to induce involution as well as cryotherapy, laser and open surgery. Interventional radiological procedures have evolved as an essential element in an interdisciplinary treatment plan for vascular malformations and include percutaneous sclerotherapy with ethanol and OK-432 for venous and lymphatic malformations and transarterial embolization for high-flow lesions.

  2. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...

  3. Renal tract malformations: perspectives for nephrologists.

    NARCIS (Netherlands)

    Kerecuk, L.; Schreuder, M.F.; Woolf, A.S.

    2008-01-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or

  4. Spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Lieberman, Andrew P

    2018-01-01

    Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor. That SBMA exclusively affects males reflects the fact that critical pathogenic events are hormone-dependent. These include translocation of the polyglutamine androgen receptor from the cytoplasm to the nucleus and unfolding of the mutant protein. Studies of the pathology of SBMA subjects have revealed nuclear aggregates of the mutant androgen receptor, loss of lower motor neurons in the brainstem and spinal cord, and both neurogenic and myopathic changes in skeletal muscle. Mechanisms underlying disease pathogenesis include toxicity in both lower motor neurons and skeletal muscle, where effects on transcription, intracellular transport, and mitochondrial function have been documented. Therapies to treat SBMA patients remain largely supportive, although experimental approaches targeting androgen action or promoting degradation of the mutant androgen receptor protein or the encoding RNA are under active study. Copyright © 2018 Elsevier B.V. All rights reserved.

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

    International Nuclear Information System (INIS)

    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

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  7. Vascular Vertigo

    Directory of Open Access Journals (Sweden)

    Mazyar Hashemilar

    2017-02-01

    Full Text Available Vertigo is a common complaint in neurology and medicine. The most common causes of vertigo are benign paroxysmal positional vertigo, vestibular neuritis, Meniere’s disease, and vascular disorders. Vertigo of vascular origin is usually limited to migraine, transient ischemic attacks, and ischemic or hemorrhagic stroke. Vascular causes lead to various central or peripheral vestibular syndromes with vertigo. This review provides an overview of epidemiology and clinical syndromes of vascular vertigo. Vertigo is an illusion of movement caused by asymmetrical involvement of the vestibular system by various causes. Migraine is the most frequent vascular disorder that causes vertigo in all age groups. Vertigo may occur in up to 25% of patients with migraine. The lifetime prevalence of migrainous vertigo is almost 1%. Cerebrovascular disorders are estimated to account for 3% to 7% of patients with vertigo. Vestibular paroxysmia has been diagnosed in 1.8% to 4% of cases in various dizziness units. Vasculitic disorders are rare in the general population, but vertigo may be seen in almost up to 50% of patients with different vasculitic syndromes. Conclusions: Migraine, cerebrovascular disorders especially involving the vertebrobasilar territory, cardiocirculatory diseases, neurovascular compression of the eighth nerve, and vasculitis are vascular causes of vertigo syndromes.

  8. Neonate With Severe Heart Failure Related to Vein of Galen Malformation

    Directory of Open Access Journals (Sweden)

    Meng-Yu Chen

    2010-08-01

    Full Text Available We report a full-term female neonate who presented with respiratory distress and severe heart failure soon after birth. Heart failure secondary to perinatal infection was initially suspected. Subsequent echocardiography revealed aortic runoff, which led to consideration of an intracranial vascular abnormality. Ultrasound and magnetic resonance imaging of the brain confirmed a diagnosis of vein of Galen aneurismal malformation (VGAM. Endovascular coil embolization of the vascular anomaly was performed, resulting in improvement of heart failure. VGAM should be considered in the differential diagnosis of neonatal congestive heart failure with a structurally normal heart. Urgent endovascular embolization and aggressive medical treatment of heart failure improve prognosis in neonatal VGAM.

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

    International Nuclear Information System (INIS)

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

    2013-01-01

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

  10. Seronegative Intestinal Villous Atrophy: A Diagnostic Challenge

    Directory of Open Access Journals (Sweden)

    Cláudio Martins

    2016-01-01

    Full Text Available Celiac disease is the most important cause of intestinal villous atrophy. Seronegative intestinal villous atrophy, including those that are nonresponsive to a gluten-free diet, is a diagnostic challenge. In these cases, before establishing the diagnosis of seronegative celiac disease, alternative etiologies of atrophic enteropathy should be considered. Recently, a new clinical entity responsible for seronegative villous atrophy was described—olmesartan-induced sprue-like enteropathy. Herein, we report two uncommon cases of atrophic enteropathy in patients with arterial hypertension under olmesartan, who presented with severe chronic diarrhea and significant involuntary weight loss. Further investigation revealed intestinal villous atrophy and intraepithelial lymphocytosis. Celiac disease and other causes of villous atrophy were ruled out. Drug-induced enteropathy was suspected and clinical improvement and histologic recovery were verified after olmesartan withdrawal. These cases highlight the importance for clinicians to maintain a high index of suspicion for olmesartan as a precipitant of sprue-like enteropathy.

  11. Ubiquitin ligases MuRF1 and MAFbx in human skeletal muscle atrophy.

    Science.gov (United States)

    de Palma, Luigi; Marinelli, Mario; Pavan, Matteo; Orazi, Alessandro

    2008-01-01

    Several pathological conditions can induce skeletal muscle atrophy and seem to share common enzyme pathways. In catabolic states where proteolysis is increased, two genes specific to muscle atrophy, MuRf1 and MAFbx, are upregulated. These encode ubiquitin ligases, which bind to and mediate ubiquitination of myofibrillar proteins for subsequent degradation during muscle atrophy. Fifteen patients undergoing leg amputation were divided into two groups. Group A included 12 elderly patients (mean age 79years) amputated for vascular disease (complicated by diabetes in four), chronic osteomyelitis or squamous cell carcinoma. Group B included three car accident victims (mean age 32years) amputated due to acute arterial insufficiency. Gastrocnemius muscle biopsies were collected for a histochemical and immunohistochemical (anti-MuRf1, anti-MAFbx) study. Group A specimens showed a decreased cross-sectional fiber area and length, adipose tissue replacement, and MuRf1 and MAFbx immunoreactivity. Muscle cells showed MuRf1 and MAFbx subsarcolemmal immunoreactivity and weak extracellular matrix immunoreactivity. Group B samples exhibited mild muscle structural changes; they did not stain with anti-MuRf1 or anti-MAFbx, and neither did sections showing muscle degeneration and adipose tissue replacement. Results of our preliminary study showed upregulation of MuRf1 and MAFbx in atrophied muscle and support their role as regulatory peptides in various conditions that lead to muscle atrophy. Data suggest that the study of cellular pathways can help identify promising targets for effective new treatments for skeletal muscle atrophy. The treatment of several orthopedic conditions is complicated by muscle atrophy; potential treatments could be directed to specific sites where these proteins are localized.

  12. Chiari III malformation: imaging features.

    Science.gov (United States)

    Castillo, M; Quencer, R M; Dominguez, R

    1992-01-01

    To analyze and discuss the MR and CT features of Chiari type III malformations. MR and CT studies in nine neonates born at term with Chiari type III malformations were retrospectively reviewed. High cervical/low occipital encephaloceles were present in all cases. Hypoplasia of the low and midline aspects of the parietal bones was seen in four patients. The encephaloceles contained varying amounts of brain (cerebellum and occipital lobes, six cases; cerebellum only, three cases), ventricles (fourth, six cases; lateral, three cases), cisterns, and in one case, the medulla and pons. Associated anomalies included: petrous and clivus scalloping (five cases/nine cases), cerebellar hemisphere overgrowth (two cases/nine cases), cerebellar tonsillar herniation (three cases/seven cases), deformed midbrain (nine cases), hydrocephalus (two cases/nine cases), dysgenesis of the corpus callosum (six cases/nine cases), posterior cervical vertebral agenesis (three cases/eight cases), and spinal cord syrinxes (two cases/seven cases). In four patients who underwent surgical resection and closure, aberrant deep draining veins and ectopic venous sinuses within the encephaloceles were found. Pathology examination of the encephalocele (four cases/nine cases) showed multiple anomalies (necrosis, gliosis, heterotopias, meningeal fibrosis) that were not demonstrable by either MR or CT. The marked disorganization of the tissues contained within the cephalocele may account for the lack of MR sensitivity to these abnormalities. Preoperative determination of the position of the medulla and pons is essential and is easily accomplished by MR. To avoid surgical complications, the high incidence of venous anomalies should be kept in mind.

  13. A new classification for cochleovestibular malformations.

    Science.gov (United States)

    Sennaroglu, Levent; Saatci, Isil

    2002-12-01

    The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a

  14. Chiari malformations: diagnosis, treatments and failures.

    Science.gov (United States)

    Abd-El-Barr, M M; Strong, C I; Groff, M W

    2014-12-01

    Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

  15. A case of the vein of Galen malformation

    International Nuclear Information System (INIS)

    Eun, Tchoong Kie; Cha, Seong Sook; Han, Sang Suk; Chung, Duck Hwan

    1986-01-01

    The vein of Galen malformation is a rare midline intracranial arteriovenous malformation. The majority of the malformations were seen in neonate, infancy and childhood, and the clinical symptoms and prognosis depended on age of presentation. The authors report a case of the vein of Galen malformation in 17 month-old female with hydrocephalus, which is confirmed by computed tomography and digital subtraction angiography.

  16. Pattern and outcome of gross congenital malformations at birth ...

    African Journals Online (AJOL)

    Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

  17. [Vascular disruption birth defects are not associated to chromosomal alterations].

    Science.gov (United States)

    Pachajoa, Harry; Ariza, Yoseth; Isaza, Carolina; Méndez, Fabián

    2015-11-01

    It is estimated that 2 to 35 of newborns present a congenital malformation. Some publications suggest that vascular disruption birth defects are not associated with chromosomal alterations detected by conventional karyotype. to determine the frequency of chromosomal alterations detected by high resolution G banded karyotype in patients with vascular disruption birth defects in a Colombian population (South America). transversal study. Population: a sample of patients identified by an epidemiological surveillance system of congenital malformations in a reference hospital in Cali, Colombia. 41 cases of vascular disruption birth defects were identified during a 36 month period; in a descending order those were: transverse reduction defects, hydranencephaly and gastroschisis. Two expert cytogenetists performed independent evaluation of the genetic material of the patients, and no chromosomal alterations detectable by G banded karyotype were identified. It is recommended that genetic counseling in cases of defects by vascular disruption is carried out taking into account the empirical recurrence risks reported for each one the types of defects by vascular disruption and the use of karyotype should be limited to cases with other malformations or chromosomal abnormality suspected by phenotype.

  18. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Kulak, W.; Okurowska-Zawada, B.; Sobaniec, W.; Goscik, M.; Olenski, J.

    2008-01-01

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  19. Site-specific induction of lymphatic malformations in a rat model for image-guided therapy

    International Nuclear Information System (INIS)

    Short, Robert F.; Shiels, William E.; Sferra, Thomas J.; Nicol, Kathleen K.; Schofield, Minka; Wiet, Gregory J.

    2007-01-01

    Lymphatic malformation is a common benign mass in children and adults and is representative of a derangement in lymphangiogenesis. These lesions have high recurrence rates and significant morbidity associated with surgery. Several sclerotherapy regimens have been developed clinically to treat lymphatic malformations; however, an animal model has not been developed that is adequate to test the efficacy of image-guided therapeutic interventions. To develop an animal model suitable for evaluation of percutaneous treatments of lymphatic malformations. Male Harlan Sprague-Dawley rats (n = 9) received two US-guided injections of Incomplete Freund's Adjuvant (IFA) over a 2-week period. All nine rats were injected twice into the peritoneum (IP); a subgroup (n = 3) received additional injections into the neck. Three animals that received IP injections of saline were used as controls. The injection sites were monitored for the development of lesions by high-resolution ultrasonography at 2-week intervals for 100 days. High-resolution (4.7 Tesla) magnetic resonance imaging was then performed on two animals noted to have developed masses. The rats were sacrificed and histologic examination of the identified lesions was performed, including immunohistochemical staining for vascular (CD31) and lymphatic (Flt-4 and Prox-1) endothelium. All animals injected with IFA developed cystic lesions. The three animals injected at dual sites were noted to have both microcystic and macrocystic malformations in the neck and microcystic plaque-like lesions in the peritoneum. The macrocystic malformations (≥5 mm) in the neck were detected by ultrasonography and grossly later during necropsy. Histopathologic analysis revealed the cystic spaces to be lined by lymphatic endothelium supported by a connective tissue stroma. Control animals did not exhibit detectable lesions with either ultrasonography or necropsy. This model represents a promising tool for translational development of image

  20. Therapeutics development for spinal muscular atrophy

    OpenAIRE

    Sumner, Charlotte J.

    2006-01-01

    Spinal muscular atrophy is an autosomal recessive motor neuron disease that is the leading inherited cause of infant and early childhood mortality. Spinal muscular atrophy is caused by mutation of the telomeric copy of the survival motor neuron gene (SMN1), but all patients retain a centromeric copy of the gene,SMN2. SMN2 produces reduced amounts of full-length SMN mRNA, and spinal muscular atrophy likely results from insufficient levels of SMN protein in motor neurons. The SMN protein plays ...

  1. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

    Hecker, W.C.; Angerpointner, T.A.

    1980-01-01

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG) [de

  2. Chiari I malformation associated with turner syndrome

    Directory of Open Access Journals (Sweden)

    Kamble Jayaprakash Harsha

    2017-01-01

    Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

  3. Clinical and imaging findings in spinal cord arteriovenous malformations

    International Nuclear Information System (INIS)

    Kim, Sang Heum; Kim, Dong Ik; Yoon, Pyeong Ho; Jeon, Pyoung; Ihn, Yeon Kwon

    1997-01-01

    The purpose of this study is to evaluate the findings of magnetic resonance (MR) imaging and selective spinal angiography of spinal cord arteriovenous malformations (SCAVMs) and to investigate the correlation of these findings with the development of clinical symptoms. In 16 patients diagnosed as suffering from SCAVMs, MR imaging and selective spinal angiograms were retrospectively analyzed and correlated with clinical symptoms. Clinical data were reviewed, especially concerning the mode of onset of clinical symptoms, and MR images of SCAVMs were evaluated with regard to the following parameters: spinal cord swelling with T2 hyperintensity, cord atrophy, intramedullary hemorrhage, and contrast enhancement of the spinal cord. Selective spinal angiographic findings of SCAVMs were also evaluated in terms of the following , parameters: type of SCAVM, presence of aneurysms, and patterns of venous drainage. Imaging findings were also correlated with the development of clinical symptoms. Systematic evaluation of the findings of MR imaging and angiography provides detailed information on the type of AVM and status of the spinal cord parenchyma, and this can be correlated with clinical manifestations of SCAVM. In patients suffering from this condition, spinal cord dysfunction due to venous congestion appears to be the main cause of clinical symptoms. (author). 18 refs., 2 tabs., 3 figs

  4. Vascular dementia

    African Journals Online (AJOL)

    Adele

    2003-12-10

    Dec 10, 2003 ... ischaemic VaD includes multiple lacunes and subcortical arteriosclerotic encephalopathy (Binswanger's disease) and imaging shows multiple deep ... culitis, multiple sclerosis, acute demyelinating encephalomy- ... Table I. The NINDS-AIREN criteria for the diagnosis of Vascular Dementia. 12. Require both ...

  5. VASCULAR SURGERY

    African Journals Online (AJOL)

    2016-06-02

    Jun 2, 2016 ... with the literature from South Africa over the last four decades, and reflects the high rate of interpersonal violence in the country.14,15 As expected, cervical ... via the intact circle of Willis in young patients is the most likely explanation for the lack of strokes. Five patients were referred to the Durban vascular ...

  6. Ultrasound -- Vascular

    Science.gov (United States)

    ... waves from passing into your body. The sonographer (ultrasound technologist) or radiologist then places the transducer on the ... is specialized and is best performed by a technologist and physician with experience in vascular ultrasound imaging. top of page Additional Information and Resources ...

  7. Terminal hemimyelocystocele associated with Chiari II malformation

    Directory of Open Access Journals (Sweden)

    Umamaheswara Reddy V.

    2014-06-01

    Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

  8. Common congenital malformations of the brain

    International Nuclear Information System (INIS)

    Naidich, T.P.; Zimmerman, R.A.

    1987-01-01

    In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

  9. Termination of pregnancy for renal malformations.

    Science.gov (United States)

    Simoens, Eva; Hindryckx, An; Moerman, Philippe; Claus, Filip; De Catte, Luc

    2015-09-01

    We studied the correlation between prenatal diagnosis and postmortem investigations in pregnancies terminated for renal malformations. Over a 5-year period, 77 cases of termination of pregnancy (TOP) for renal malformations were reviewed. Chromosomal anomalies (n = 9) and cases without conventional or virtual autopsy were excluded (n = 15). In 53 cases, prenatal ultrasound diagnosis and conventional autopsy findings were compared. In addition, we compared the accuracy of conventional and virtual autopsy findings in 17 cases. Full agreement was observed in 60.4% (32/53) of cases. In 26.4% (14/53) of the cases, the presence of additional malformations did not alter the final diagnosis. However, in 11.3% (6/53) the final diagnosis was adjusted because of major additional findings. One case showed a total disagreement. Conventional and virtual autopsy were in full agreement in 52.9% (9/17). Postmortem magnetic resonance imaging (MRI) description and detection of malformations was less complete and failed to correctly diagnose 5/17 cases (29.4%). In 17.6% (3/17) of the cases, postmortem MRI revealed malformations not confirmed by conventional autopsy. A high correlation between prenatal ultrasound and postmortem investigations was observed. Conventional autopsy remains the gold standard to reveal additional major and minor malformations, leading to a correct final diagnosis. The added value of virtual necropsy for renal pathology was limited.

  10. Vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of white matter lesions on MRI: the evaluation of vascular care in Alzheimer's disease (EVA) study.

    Science.gov (United States)

    Richard, Edo; Gouw, Alida A; Scheltens, Philip; van Gool, Willem A

    2010-03-01

    White matter lesions (WMLs) and cerebral infarcts are common findings in Alzheimer disease and may contribute to dementia severity. WMLs and lacunar infarcts may provide a potential target for intervention strategies. This study assessed whether multicomponent vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of WMLs and prevents occurrence of new infarcts. A randomized controlled clinical trial, including 123 subjects, compared vascular care with standard care in patients with Alzheimer disease with cerebrovascular lesions on MRI. Progression of WMLs, lacunes, medial temporal lobe atrophy, and global cortical atrophy were semiquantitatively scored after 2-year follow-up. Sixty-five subjects (36 vascular care, 29 standard care) had a baseline and a follow-up MRI and in 58 subjects, a follow-up scan could not be obtained due to advanced dementia or death. Subjects in the vascular care group had less progression of WMLs as measured with the WML change score (1.4 versus 2.3, P=0.03). There was no difference in the number of new lacunes or change in global cortical atrophy or medial temporal lobe atrophy between the 2 groups. Vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of WMLs. Treatment aimed at vascular risk factors in patients with early Alzheimer disease may be beneficial, possibly in an even earlier stage of the disease.

  11. Management of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Miyamoto, Susumu; Takahashi, Jun C.

    2008-01-01

    Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

  12. Vertebral Malformations in French Bulldogs

    Directory of Open Access Journals (Sweden)

    Mária KURICOVÁ

    2017-07-01

    Full Text Available The aim of this study was to detect vertebral malformations among French Bulldogs admitted between the years 2011 – 2016 due to the high popularity of the breed and the intentions to increase the breed welfare by reducing the occurrence of congenital anomalies. Besides, we aimed to look for gender predisposition, possible vertebral predisposition, occurrence of clinical symptoms and radiographic findings. A total of 73 French Bulldogs met the inclusion criteria (radiographs of the whole spine. In 67.12% (49 dogs we confirmed a vertebral anomaly and 32.88% (24 dogs were free of any vertebral anomaly. We identified a total of 67 abnormal vertebrae in 49 dogs, 13 cervical vertebrae (19.4%, 43 thoracic vertebrae (64.2%, and 11 abnormal lumbar vertebrae (16.4%. In this study, we found 44 hemivertebrae (65.7% out of 67 abnormal vertebrae. We identified 64.4% (47/73 dogs with clinical signs (30 males, 17 females and 36.6% (26/73 dogs without clinical signs (19 males, 7 females. Although the incidence of male dogs was higher in this study, the statistical evaluation did not confirm any predisposed gender, and we found no statistically significant predisposition for any particular abnormal vertebra.

  13. Giant pediatric cervicofacial lymphatic malformations.

    Science.gov (United States)

    Benazzou, Salma; Boulaadas, Malik; Essakalli, Leila

    2013-07-01

    Lymphatic malformations (LMs) are benign lesions. Most of them are found in head and neck regions as asymptomatic mass, but giant lymphangiomas may affect breathing or swallowing and constitute a major therapeutic challenge. A retrospective analysis of giant head and neck LMs with impairment of respiration or swallow for the past 11 years was performed in the Department of Maxillofacial Surgery and ENT of the Avicenne Medical University Center. Seven patients with large and extensive LMs of the head and neck were identified. There were 3 males and 4 females with a mean age of 6 years. The predominant reason for referral was airway compromise necessitating tracheostomy (57%) and dysphagia (43%). Three patients had macrocystic lesions; others were considered mixed or microcystic. All the patients underwent surgical excision as a primary treatment modality. Complete surgical resection was realized in 4 patients, and subtotal resection in 3 patients. Of 7 patients, 4 patients had complications including nerve damage and recurrence of the disease. The majority of the patients underwent only a single surgical procedure. Cervicofacial LMs in children should be managed in multidisciplinary setting. Surgery remains the first treatment for managing giant, life-threatening lesions.

  14. Genetics Home Reference: spinal muscular atrophy

    Science.gov (United States)

    ... Pro56Ser VAPB mutation: proximal SMA with dysautonomia. Muscle Nerve. 2006 Dec;34(6):731-9. Citation on PubMed Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor ...

  15. A quantitative study of the physiological cerebral atrophy with aging

    International Nuclear Information System (INIS)

    Nagata, K.

    1987-01-01

    A new method of discriminating pathological cerebral atrophy from physiological atrophy during aging is reported. The authors advocate a pixel counting method using a minicomputer for the quantitative measurement of cerebral atrophy. Five hundred cases were studied with this quantitative method and the normal range of the physiological atrophy was determined statistically. In order to estimate the degree of cerebral atrophy easily, the conventional linear measurement methods were compared with the pixel counting method using multivariant analysis, and a simple formula for the calculation of the degree of cerebral atrophy is proposed. Using this formula and the normal range, pathological cerebral atrophy is easily detectable. (orig.)

  16. A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

    Directory of Open Access Journals (Sweden)

    Mariasofia Cotelli

    2014-01-01

    Full Text Available Glycogenosis II (GSDII is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spectrum. Clinical findings may include muscle weakness, respiratory insufficiency, vascular abnormalities, low bone mineral density and higher risk of developing osteoporosis. Craniovertebral junction (CVJ malformations have never been described so far. We here report on a GSDII 43-year-old woman who harbored the mutations IVS1-13T>G and c.2237G>A in the acid alpha-glucosidase gene. She recurrently suffered from headache, neck pain and dizziness. Brain MRI and CT scan showed the presence of a very rare complex CVJ malformation composed of basilar invagination, basiocciput hypoplasia, partial C1 assimilation, C1 posterior arch aplasia and C1 lateral mass hypoplasia and offset. Although we cannot rule out their coincidental occurrence, the rarity of multiple CVJ malformations in the general population as well as the well-known GSDII multisystem involvement should suggest to study the CVJ in the diagnostic process of GSDII patients in order to assess the CVJ malformation frequency in GSDII population and verify a possible relationship between these two conditions.

  17. Infraspinatus muscle atrophy in professional baseball players.

    Science.gov (United States)

    Cummins, Craig Anthony; Messer, Terry M; Schafer, Michael F

    2004-01-01

    Infraspinatus muscle atrophy has been observed in athletes who stress their upper extremities in an overhead fashion. The majority of such case reports have been in volleyball players, with far fewer cases reported in baseball players. Infraspinatus muscle atrophy occurs to a notable degree in professional baseball players. Retrospective cohort study. At the end of the 1999 baseball season, data were collected from all Major League Baseball teams in regards to players affected with infraspinatus muscle atrophy. Twelve of the 1491 major league professional baseball players were identified as having appreciable infraspinatus muscle atrophy. There was an increased prevalence of the muscle atrophy in professional pitchers (10 of 494, 4%) compared to position players (2 of 997, 0.2%) (P relief pitchers (2 of 10) (P = 0.036), pitchers who had played for more years at the major league level (8.7 +/- 4.9 versus 5.2 +/- 4.0) (P = 0.017), and pitchers who had thrown for more innings at the major league level (971.4 +/- 784.4 versus 485.0 +/- 594.6) (P <0.001). Infraspinatus atrophy was identified in 4.4% of major league starting pitchers and occurred in those pitchers who pitched for more years and innings during their major league career.

  18. Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India

    Directory of Open Access Journals (Sweden)

    Surekha Bangal

    2012-12-01

    Full Text Available AbstractGyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascular pigmentation in the equatorial region. Fundus fluroscein angiography revealed characteristic staining pattern. Other ocular associations included myopia and posterior sub capsular cataract. Progressive systemic proximal myopathy was one of the associated features. Dietary supplementation of vitamin B6 was advised.

  19. Coexistence of extra-axial cavernous malformation and cerebellar developmental venous anomaly in the cerebellopontine angle.

    Science.gov (United States)

    Wu, Bo; Liu, Weidong; Zhao, Yuan

    2012-01-01

    The coexistence of cavernous malformations (CMs) and developmental venous anomalies (DVAs) in the cerebellopontine angle (CPA) is exceedingly rare. To the authors' knowledge, only one case of CPA CM with concurrence of a neighboring DVA has been reported to date. The authors presented such vascular malformations in a 36-year-old man with progressive CPA syndrome during the course of six weeks. Preoperative neuroimaging suggested the diagnosis of an extra-axial hemorrhagic lesion in the CPA cistern with a cerebellar DVA in the close vicinity. The lesion was totally removed with the DVA untouched and was confirmed to be extra-axial in intimate contact with only the VII-VIII complex and the draining veins of DVA. Pathology revealed a CM. The patient underwent partial improvement in neurological function postoperatively. The radiographic follow-up at one year revealed no recurrence. CMs should be considered in the differential diagnosis of any extra-axial hemorrhagic mass, especially with a DVA in the proximity. The coexistence of CM and DVA in CPA, although maybe just a coincidence, suggests the possibility of a new subtype of extra-axial CPA CM secondary to a preexisting DVA. A long-term follow-up is justified in discovering the potential mechanism and biology of such uncommon vascular malformations. Copyright © 2012 Elsevier Inc. All rights reserved.

  20. Anomalous facial nerve canal with cochlear malformations.

    Science.gov (United States)

    Romo, L V; Curtin, H D

    2001-05-01

    Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

  1. Epidemiology, genetics, pathophysiology, and prognostic classifications of cerebral arteriovenous malformations.

    Science.gov (United States)

    Ozpinar, Alp; Mendez, Gustavo; Abla, Adib A

    2017-01-01

    Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. The literature suggests that most brain AVMs (bAVMs) are identified following evaluation of the etiology of acute cerebral hemorrhage, or incidentally on imaging associated with seizure or headache workup. Given the low incidence of this disease, most of the data accrued on this pathology comes from single-center experiences. This chapter aims to distill the most important information from these studies as well as examine meta-analyses on bAVMs in order to provide a comprehensive introduction into the natural history, classification, genetic underpinnings of disease, and proposed pathophysiology. While there is yet much to be elucidated about AVMs of the central nervous system, we aim to provide an overview of bAVM etiology, classification, genetics, and pathophysiology inherent to the disease process. © 2017 Elsevier B.V. All rights reserved.

  2. Subdural hematoma from a cavernous malformation.

    Science.gov (United States)

    Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

    2014-01-01

    To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. Can endoscopic atrophy predict histological atrophy? Historical study in United Kingdom and Japan.

    Science.gov (United States)

    Kono, Shin; Gotoda, Takuji; Yoshida, Shigeaki; Oda, Ichiro; Kondo, Hitoshi; Gatta, Luigi; Naylor, Greg; Dixon, Michael; Moriyasu, Fuminori; Axon, Anthony

    2015-12-14

    To assess the diagnostic concordance between endoscopic and histological atrophy in the United Kingdom and Japan. Using published data, a total of 252 patients, 126 in the United Kingdom and 126 in Japan, aged 20 to 80 years, were evaluated. The extent of endoscopic atrophy was classified into five subgroups according to a modified Kimura-Takemoto classification system and was compared with histological findings of atrophy at five biopsy sites according to the updated Sydney system. The strength of agreement of the extent of atrophy between histology and visual endoscopic inspection showed good reproducibility, with a weighted kappa value of 0.76 (P atrophy (OR = 0.10, 95%CI: 0.03-0.36). The strength of agreement between endoscopic and histological atrophy, assessed by cancer risk-oriented grading, was reproducible, with a kappa value of 0.81 (95%CI: 0.75-0.87). Only nine patients (3.6%) were endoscopically underdiagnosed with antral predominant rather than extensive atrophy and were considered false negatives. Endoscopic grading can predict histological atrophy with few false negatives, indicating that precancerous conditions can be identified during screening endoscopy, particularly in patients in western countries.

  4. Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model

    DEFF Research Database (Denmark)

    Hauerslev, Simon; Vissing, John; Krag, Thomas O

    2014-01-01

    control factor, myostatin and atrophy markers MAFbx and MuRF1. Hypoxia-induced atrophy was partially restored by hepatocyte growth factor combined with leukemia inhibitory factor treatment. Dividing satellite cells were three-fold increased in the treatment group compared to control. Finally, we...

  5. Extensive Delayed Brain Atrophy after Resuscitation in a Patient with Multiple System Atrophy

    Directory of Open Access Journals (Sweden)

    Sazuku Nisitani

    2018-01-01

    Full Text Available Brain magnetic resonance imaging (MRI of multiple system atrophy (MSA shows atrophy in the cerebrum, cerebellum, and brainstem. It is also characterized by specific patterns such as hyperintense lateral putaminal rim. MRI of hypoxic encephalopathy shows atrophy mainly in the gray matter, and laminar necrosis in the cerebral cortex is often observed. Here, we report an MSA patient damaged by hypoxic insult and resuscitated after 18-min cardiac arrest. The brain of the patient developed severe atrophy within a period of 10 months. Furthermore, brain atrophy was observed in the white and gray matter, which preserved the brain atrophy pattern in MSA. We assume that alpha-synuclein oligomerization is involved in the neural cell death and brain atrophy. It might have caused further neural cell death in the brain damaged by hypoxia. Alpha-synuclein, which is involved in the pathogenesis of MSA, is suggested to be a prion. Misfolded alpha-synuclein may propagate through cell-to-cell transmission and cause wide pathological change, visible as atrophied MR imaging.

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

    Science.gov (United States)

    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.

  7. Mandibular Arteriovenous Malformation in an 8-year-old Child: A Case Report.

    Science.gov (United States)

    Rudagi, B M; Patil, Sudha; Hammannavar, Reshma; Jaiswal, Tejus

    2016-01-01

    Arteriovenous (AV) malformation is a congenital vascular anomaly in which there is an abnormal connection between the arterial and venous system resulting from developmental arrest during embryogenesis. In children, they are rare and potentially life-threatening. In the present case, an 8-year-old male patient presented with a simple gingival swelling associated with mobility of the corresponding teeth, which appeared relatively simple to excise but had an AV malformation associated with it. Timely diagnosis and investigations revealed its presence and hence prevented a catastrophy from occurring. Conventional method of surgical ligation of the external carotid artery was done as an emergency procedure and surgical resection was done without compromising the associated anatomic structures. This procedure helped control the bleeding as well as achieved an uneventful healing. This case report intends to create an awareness among Pediatric Dentists regarding the condition and thereby preventing an uncontrolled and unmanageable hemorrhage occurring in the Dental Office.

  8. A case report of Ggeneralized uterine arteriovenous malformation after molar pregnancy in an infertile woman

    Directory of Open Access Journals (Sweden)

    Firoozeh Ahmadi

    2018-02-01

    Full Text Available Background: Uterine arteriovenous malformation (UAVM is a rare vascular condition in reproductive age presented mostly with bleeding. Although this malformation is infrequent, it is potentially life-threatening. Transvaginal Doppler ultrasonography is a widely available, noninvasive and excellent diagnostic method. Case: The case is a 30-yr-old woman with a history of eight-yr infertility.following intrauterine insemination treatment, she had a molar pregnancy. Despite methotrexate treatment, there was persistent vaginal bleeding. Assessment of this patient was done with transvaginal sonography and color Doppler. According to suspicious appearances, angiography was planned for confirmation of UAVM. Conclusion: UAVM is one of the molar pregnancy complications. The first step for diagnosis of UAVM is transvaginal ultrasonography and color Doppler assessment. Embolization is the best treatment for women who intend to preserve fertility.

  9. Vascular ultrasound.

    Science.gov (United States)

    Pilcher, D B; Ricci, M A

    1998-04-01

    Surgeon-interpreted diagnostic ultrasound has become the preferred screening test and often the definitive test for the diagnosis of arterial stenosis, aneurysm, and venous thrombosis. As a modality for surveillance, its noninvasive quality makes it particularly appealing as the test of choice to screen patients for abdominal aortic aneurysms or to perform follow-up examinations on those patients with a carotid endartectomy or in situ bypass grafts. The increasing reliance on intraoperative duplex imaging of vascular procedures demands that the surgeon learn the skills to perform the studies without a technologist or radiologist to interpret the examination.

  10. Color coded duplex sonography. Interdisciplinary vascular ultrasonography

    International Nuclear Information System (INIS)

    Kubale, R.; Stiegler, H.

    2002-01-01

    An interdisciplinary team of experts impart the state of the art in color coded duplex sonography applied for examination of all anatomic areas. Detailed information is given for every vascular area, describing the examination procedure, possible origins of mistakes or faults, and means to avoid them. In addition to the classical applications, eg. for examination of the extra- and intracranial vessels, vessels of the limbs, visceral vessels and the vessels of liver and kidney, there are chapters devoted to: haemodialysis shunts, arteriovenous malformations, duplex sonography of the penis, tumor vascularisation. (orig./CB) [de

  11. Meningitis after cochlear implantation in Mondini malformation.

    Science.gov (United States)

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

  12. [Diagnosis and management of Mondini malformation].

    Science.gov (United States)

    Yang, W; Fang, Y; Yang, S

    1997-02-01

    Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

  13. Outpatient percutaneous treatment of deep venous malformations using pure ethanol at low doses under local anesthesia

    Directory of Open Access Journals (Sweden)

    José Luiz Orlando

    2010-01-01

    Full Text Available INTRODUCTION: Venous malformations are the most frequent vascular malformation. Deep venous malformations are located in subcutaneous tissue or in the muscles. Percutaneous sclerotherapy is the treatment of choice, and the use of ethanol at low doses has not yet been described. OBJECTIVE: To analyze the results of treating Deep venous malformations patients with low doses of ethanol. METHODS: Thirty-nine patients treated between July 1995 and June 2007 were followed up prospectively over a median period of 18 months. Twenty-nine were female (74.4% and 10 were male (25.6%, with ages ranging from 11 to 59 years (median of 24 years. All of the lesions affected limbs, and the main symptom reported was pain (97.4%. Each patient underwent fortnightly alcohol application sessions under local anesthesia on an outpatient basis. The lesions were classified into three groups according to size using nuclear magnetic resonance imaging: small, up to 3 cm (4 patients; medium, between 3 and 15 cm (27 patients; and large, greater than 15 cm (8 patients. RESULTS: The symptoms completely disappeared in 14 patients (35.9% and improved in 24 (61.5%. The lesion size reduced to zero in 6 patients (15.4% and decreased in 32 (82%. The median number of sessions was 7. There were no complications in 32 patients (82%, while 3 presented local paresthesia (7.7%, 2 superficial trombophlebites (5.1%, 1 skin ulcer (2.6%, and 1 case of hyperpigmentation (2.6%. CONCLUSION: Outpatient treatment for Deep venous malformations patients using ethanol at low doses was effective, with a low complication rate.

  14. Skeletal malformations in fetuses with Meckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B; Keeling, J W

    1999-01-01

    four types, based on the number and morphology of metacarpals and metatarsals. In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between the pattern of malformation seen in the hands and that seen in the feet. Only......In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rump length 130-170 mm) the skeleton was examined as part of the autopsy procedure using whole body radiography and special radiographic techniques. In the upper and lower limbs we found similar types of polydactyly. We noted...

  15. Pattern of congenital orthopeadic malformations in an African ...

    African Journals Online (AJOL)

    Conclusion: Congenital talipes equinovarus deformity is the most common congenital orthopaedic malformation in this environment while congenital hip dislocation (CDH) is rare when compared with the Caucasians. Keywords: congenital malformations, orthopaedic, environment. West African Journal of Medicine Vol.

  16. Genetics Home Reference: microcephaly-capillary malformation syndrome

    Science.gov (United States)

    ... GeneReviews (1 link) Microcephaly-Capillary Malformation Syndrome Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Sources for This Page Carter ...

  17. Surgical excision of a cerebral arteriovenous malformation in a dog

    International Nuclear Information System (INIS)

    Thomas, W.B.; Schueler, R.O.; Kornegay, J.N.

    1995-01-01

    A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

  18. Factors affecting risks of congenital malformations. II. Effect of maternal diabetes on congenital malformations.

    Science.gov (United States)

    Chung, C S; Myrianthopoulos, N C

    1975-01-01

    The effect of maternal diabetes on the risk of congenital malformations was investigated in 23,695 pregnancies of white mothers, inclucing 339 patients of the Joslin Clinic, and in 24,742 pregnancies of Negro mothers, drawn from the prospective Collaborative Perinatal Project. Of these, 372 mothers had gestational diabetes and 567 had overt diabetes (before and during pregnancy). Pregnancy outcomes studied included stillbirths and live births. Among core women (excluding the Joslin Clinic cases), the frequencies of diabetic pregnancies were 1.31% and 1.18% for white and Negro mothers, respectively; in both groups, approximately two thirds of these pregnancies had gestational diabetes. There was no increase in malformation risk in the pregnancies of mothers with gestational diabetes over that of nondiabetic mothers in either racial group. However, the risk of malformation for white mothers with overt diabetes was double that of nondiabetic mothers for both major and minor categories of malformations. The incidences of major and minor types of malformations in the pregnancies of white mothers with overt diabetes were 17.94% and 10.94%, respectively, compared to the corresponding incidences of 8.34% and 6.25% for the white nondiabetic group. In Negro mothers with overt diabetes, a smaller increase of risk was seen only in major malformations; the incidences were 13.64% and 8.45% for the diabetic and nondiabetic groups, respectively. The increased risks for malformations were distributed generally throughout the organ systems. Multiple malformations occurred more frequently in the overt diabetic than in the nondiabetic group, suggesting that maternal diabetes must act adversely an an early stage of fetal development. Two cases with the caudal regression syndrome were observed in children of diabetic mothers, whereas none was found among births from nondiabetic mothers. Insulin (or analog) therapy of diabetes neither decreased nor increased the risk of malformation in

  19. Diabetes mellitus, hypertension and medial temporal lobe atrophy: the LADIS study

    DEFF Research Database (Denmark)

    Korf, E S C; van Straaten, E C W; de Leeuw, F-E

    2007-01-01

    HYPOTHESIS: Based on recent findings on the association between vascular risk factors and hippocampal atrophy, we hypothesized that hypertension and diabetes mellitus (DM) are associated with medial temporal lobe atrophy (MTA) in subjects without disability, independent of the severity of white...... matter hyperintensities. METHODS: In the Leukoaraiosis And DISability in the elderly (LADIS) study, we investigated the relationships between DM, hypertension, blood pressure and MTA in 582 subjects, stratified by white matter hyperintensity severity, using multinomial logistic regression. MTA...... was visually scored for the left and right medial temporal lobe (score 0-4), and meaned. RESULTS: Mean age was 73.5 years (sd 5.1), 54% was female. Of the subjects, 15% had DM, and 70% had a history of hypertension. The likelihood of having MTA score 3 was significantly higher in subjects with DM (OR 2.9; 95...

  20. CT features of olivopontocerebellar atrophy in children

    International Nuclear Information System (INIS)

    Kumar, S.D.; Gururaj, A.K.; Jeans, W.D.

    1995-01-01

    Between 1990 and 1992, 14 children were seen in whom a clinical diagnosis of olivopontocerebellar atrophy (OPCA) had been made. The majority of patients presented with cerebellar ataxia and hypotonia. Five children had a family history of a similar illness in first-degree relatives. All cases had undergone clinical and neurologic examinations, routine laboratory tests and cranial CT. CT features were graded to quantitative the degree of atrophy in each cerebellar hemisphere, vermis and brain stem. All patients had varying degrees of atrophic changes of cerebellum, brain stem and cerebrum. These CT features appear to be distinctive enough to enable the diagnosis of OPCA to be made. (orig.)

  1. multiple congenital skeletal malformations in a associated with

    African Journals Online (AJOL)

    A ewe was relieved of dystocia by manual manipulation. The lamb was found to be malformed. There were multiple skeletal malformations which included brachygnathia, arthrogryposis and kyphoscoliosis. Other malformations included patella absence, resulting in bowing of both fore. "and hind limbs with poorly developed ...

  2. Perinatal outcome of obvious congenital malformation as seen at the ...

    African Journals Online (AJOL)

    Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

  3. Multiple congenital skeletal malformations in a lamb associated with ...

    African Journals Online (AJOL)

    A ewe was relieved of dystocia by manual manipulation. The lamb was found to be malformed. There were multiple skeletal malformations which included brachygnathia, arthrogryposis and kyphoscoliosis. Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed ...

  4. Multislice spiral computed tomography imaging in congenital inner ear malformations.

    Science.gov (United States)

    Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

    2008-01-01

    The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

  5. Neuroradiological findings in vascular dementia

    Energy Technology Data Exchange (ETDEWEB)

    Guermazi, Ali; Miaux, Yves; Suhy, Joyce; Pauls, Jon; Lopez, Ria [Synarc, Inc., Department of Radiology Services, San Francisco, CA (United States); Rovira-Canellas, Alex [Hospital General Universitari Vall d' Hebron, Unita de Resonancia Magnetica, Barcelona (Spain); Posner, Holly [Eisai, Inc., Teaneck, NJ (United States)

    2007-01-15

    There are multiple diagnostic criteria for vascular dementia (VaD) that may define different populations. Utilizing the criteria of the National Institute of Neurological Disorders and Stroke and Association Internationale pour la Recherche et l'Enseignement en Neurosciences (NINDS-AIREN) has provided improved consistency in the diagnosis of VaD. The criteria include a table listing brain imaging lesions associated with VaD. The different neuroradiological aspects of the criteria are reviewed based on the imaging data from an ongoing large-scale clinical trial testing a new treatment for VaD. The NINDS-AIREN criteria were applied by a centralized imaging rater to determine eligibility for enrollment in 1,202 patients using brain CT or MRI. Based on the above data set, the neuroradiological features that are associated with VaD and that can result from cerebral small-vessel disease with extensive leukoencephalopathy or lacunae (basal ganglia or frontal white matter), or may be the consequence of single strategically located infarcts or multiple infarcts in large-vessel territories, are illustrated. These features may also be the consequence of global cerebral hypoperfusion, intracerebral hemorrhage, or other mechanisms such as genetically determined arteriopathies. Neuroimaging confirmation of cerebrovascular disease in VaD provides information about the topography and severity of vascular lesions. Neuroimaging may also assist with the differential diagnosis of dementia associated with normal pressure hydrocephalus, chronic subdural hematoma, arteriovenous malformation or tumoral diseases. (orig.)

  6. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  7. Frequency of congenital malformations and chromosomal disorders ...

    Indian Academy of Sciences (India)

    2015-12-03

    Dec 3, 2015 ... are different in area, number of inhabitants, level of economic and social development, etc. The data ... [Popa C.-E. and Ghiorghit˘a G. 2015 Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties .... avoiding an abnormal neuro-motor development of a child.

  8. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... malformations affect about 0.5 percent of the population worldwide. Related Information What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? Genetic Changes Mutations in at least three genes, KRIT1 (also ...

  9. Frequency of congenital malformations and chromosomal disorders ...

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 94; Issue 4 ... congenital malformations; chromosomal disorders; frequency; human populations. Abstract. This paper presents the state of genetic health of the human populations in two Romanian counties, Bacau and Vaslui, as they are different in area, number of inhabitants, ...

  10. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  11. Ketogenic Diet for Epilepsy and Focal Malformation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-09-01

    Full Text Available The efficacy and long-term treatment outcome of a classic ketogenic diet (KD addon treatment (4:1 lipid/nonlipid ratio, without initial fasting and fluid restriction were evaluated retrospectively in 47 children with intractable epilepsy and focal malformation of cortical development, in a study at Severance Children’s and Sanggye Park Hospitals, Seoul, Korea.

  12. The posterior urethra in anorectal malformations.

    Science.gov (United States)

    Mickelson, Jennifer J; MacNeily, Andrew E; Blair, Geoffrey K

    2007-03-01

    Anorectal malformations are commonly associated with recto-urethral fistulas. Definitive repair of these anomalies may result in injury to the bladder and urethra. Accurate preoperative assessment of the anatomy is imperative to identify the structures and avoid unnecessary injury. This brief report provides radiographic images that demonstrate these anomalies.

  13. Congenital cystic adenomatoid malformation: case report | Wafula ...

    African Journals Online (AJOL)

    Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University Hospital. In presenting ...

  14. Hemihypertrophy and the Chiari I malformation.

    Science.gov (United States)

    Tubbs, R Shane; Smyth, Matthew D; Wellons, John C; Oakes, W Jerry

    2003-05-01

    We report two children with hemihypertrophy and Chiari I malformation (CIM) and review the extant medical literature regarding CIM and overgrowth disorders. We propose that these two entities do not represent a spurious association but rather share a common dysembryology of mesoderm. Copyright 2003 S. Karger AG, Basel

  15. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  16. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  17. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-01-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  18. Congenital lung malformations: correlation between prenatal and ...

    African Journals Online (AJOL)

    Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

  19. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...

  20. MR findings of congenital anorectal malformation

    International Nuclear Information System (INIS)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

    1995-01-01

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

  1. Underdiagnosis of Mild Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Jonker, Jara E.; Trzpis, Monika; Broens, Paul M. A.

    Objective: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. Study design: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal

  2. Challenges of congenital malformations: an African perspective ...

    African Journals Online (AJOL)

    Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the supernatural had been in ...

  3. Angular craniometry in craniocervical junction malformation.

    Science.gov (United States)

    Botelho, Ricardo Vieira; Ferreira, Edson Dener Zandonadi

    2013-10-01

    The craniometric linear dimensions of the posterior fossa have been relatively well studied, but angular craniometry has been poorly studied and may reveal differences in the several types of craniocervical junction malformation. The objectives of this study were to evaluate craniometric angles compared with normal subjects and elucidate the main angular differences among the types of craniocervical junction malformation and the correlation between craniocervical and cervical angles. Angular craniometries were studied using primary cranial angles (basal and Boogard's) and secondary craniocervical angles (clivus canal and cervical spine lordosis). Patients with basilar invagination had significantly wider basal angles, sharper clivus canal angles, larger Boogard's angles, and greater cervical lordosis than the Chiari malformation and control groups. The Chiari malformation group does not show significant differences when compared with normal controls. Platybasia occurred only in basilar invagination and is suggested to be more prevalent in type II than in type I. Platybasic patients have a more acute clivus canal angle and show greater cervical lordosis than non-platybasics. The Chiari group does not show significant differences when compared with the control, but the basilar invagination groups had craniometric variables significantly different from normal controls. Hyperlordosis observed in the basilar inavagination group was associated with craniocervical kyphosis conditioned by acute clivus canal angles.

  4. Scalp arteriovenous malformation : a case report.

    Science.gov (United States)

    Mohamed, Wan Najwa Zaini Wan; Abdullah, Noreen Norfaraheen Lee; Muda, Ahmad Sobri

    2008-07-01

    We report a rare case of Arteriovenous malformation (AVM) of the scalp in a 30 year-old Malay gentleman who presented with painless forehead swelling since birth. Magnetic Resonance Imaging (MRI) and cerebral angiogram performed and the findings are discussed.

  5. Congenital malformations prevalent among Egyptian children and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    Congenital malformations;. Egyptian children;. Risk factors;. Antenatal care;. Consanguinity;. Birth weight. Abstract According to the World Health Organization the term congenital anomaly includes .... is the most popular country in the Middle East and the third ..... multiple systems, as well as Down syndrome, increased with.

  6. Cerebral and pulmonary arteriovenous malformations CASE REPORT

    African Journals Online (AJOL)

    Computed tomography (CT) examination of the brain with intrave- nous contrast revealed multiple arteriovenous malformations (AVMs), predominantly involving the left cerebral hemisphere and thalamic region (Fig. 2). On magnetic resonance imaging (MRI) multiple tightly packed masses of flow voids were found (Figs 3 ...

  7. Spontaneous regression of a mandibular arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Scott B. Raymond, MD, PhD

    2015-06-01

    Full Text Available Mandibular arteriovenous malformations (AVMs are rare lesions that may initially present as catastrophic bleeding during dental surgical procedures. Owing to the significant risk of bleeding, most mandibular AVMs are treated definitively by resection or embolization. In this report, we describe a mandibular AVM that spontaneously regressed after biopsy.

  8. Management of ruptured brain arteriovenous malformations

    NARCIS (Netherlands)

    Zacharia, B.E.; Vaughan, K.A.; Jacoby, A.; Hickman, Z.L.; Bodmer, D.; Connolly, E.S., Jr.

    2012-01-01

    Intracranial arteriovenous malformations (AVMs) are a common cause of stroke in younger patients, and often present as intracerebral hemorrhages (ICH), associated with 10 % to 30 % mortality. Patients who present with a hemorrhage from an AVM should be initially stabilized according to acute

  9. Photoreceptor atrophy in acute zonal occult outer retinopathy

    DEFF Research Database (Denmark)

    Zibrandtsen, N.; Munch, I.C.; Klemp, K.

    2006-01-01

    and multifocal electroretinography. Results: All three patients demonstrated partial or complete photoreceptor atrophy corresponding to partial or complete scotomata of retinal origin. Conclusion: Photoreceptor atrophy can be demonstrated early in the course of AZOOR, before ophthalmoscopically visible changes...

  10. Genetics Home Reference: spinal muscular atrophy with progressive myoclonic epilepsy

    Science.gov (United States)

    ... myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Printable PDF Open All Close All Enable Javascript ... boxes. Description Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes ...

  11. Recurrence of a paediatric arteriovenous malformation 9 years postcomplete excision: case report and review of literature.

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are a common congenital vascular anomaly, which often present in both children and adults. Surgery is considered curative once postoperative angiography confirms the absence of vessels. We describe a 6-year-old girl, who had a Spetzler-Martin Grade II AVM resected successfully, in which a recurrent AVM was detected on routine follow-up over 9 years post excision. The aetiopathogenesis of this rare occurrence with a review of literature is discussed. Long-term postoperative follow-up in the form of MRI\\/MR angiogram is recommended for all fully resected AVMs in the paediatric age group, anticipating the possibility of future recurrence.

  12. Giant arteriovenous malformation of the floor of the mouth presenting with dysarthria and difficulty in swallowing.

    Science.gov (United States)

    Taskin, Umit; Yigit, Ozgur; Bilici, Suat; Kocer, Naci

    2012-03-01

    Arteriovenous malformation (AVM) is a vascular abnormality resulting in the development of abnormal connection between an artery and vein without capillary connections. An AVM develops mainly intracranially. Extracranial AVMs are rarely seen. Cheek, ear, nose, auricle, and forehead are the more common sites in the extracranial involvement. They cause cosmetic problems when located in the head and neck region. We report a case of a giant AVM in the floor of the mouth, which has not been specified and has not been reported until now. The lesion, in an elderly man, was supplied by multiple vessels and caused difficulty in speaking and swallowing. The lesion was totally excised after embolization of feeding vessels.

  13. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

    Directory of Open Access Journals (Sweden)

    Anjurani Siddesh

    2017-01-01

    Interpretation & conclusions: Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

  14. Fluid biomarkers in multiple system atrophy

    DEFF Research Database (Denmark)

    Laurens, Brice; Constantinescu, Radu; Freeman, Roy

    2015-01-01

    Despite growing research efforts, no reliable biomarker currently exists for the diagnosis and prognosis of multiple system atrophy (MSA). Such biomarkers are urgently needed to improve diagnostic accuracy, prognostic guidance and also to serve as efficacy measures or surrogates of target engagem...

  15. Sensorimotor gating deficits in multiple system atrophy

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Biernat, Heidi Bryde; Nikolic, Miki

    2014-01-01

    Prepulse inhibition (PPI) of the auditory blink reflex is a measure of sensorimotor gating, which reflects an organism's ability to filter out irrelevant sensory information. PPI has never been studied in patients with multiple system atrophy (MSA), although sensorimotor deficits are frequently...

  16. Assessment of vaginal atrophy: a review

    NARCIS (Netherlands)

    Weber, M. A.; Limpens, J.; Roovers, J. P. W. R.

    2015-01-01

    The aim of this study is to provide an evidence-based definition of vaginal atrophy (VA) and present an overview of subjective and objective measurements of VA applicable in clinical practice and research. A systematic literature search was performed in MEDLINE and EMBASE to identify studies

  17. Cube propagation for focal brain atrophy estimation

    DEFF Research Database (Denmark)

    Pai, Akshay Sadananda Uppinakudru; Sørensen, Lauge; Darkner, Sune

    2013-01-01

    Precise and robust whole brain, ventricle, and hippocampal atrophy measurements are important as they serve as biomarkers for Alzheimer’s disease. They are used as secondary outcomes in drug trials, and they correlate with the cognitive scores. When two successive scans are non-linearly aligned...

  18. Progressive Hemifacial Atrophy with Morphea of Cheek

    Directory of Open Access Journals (Sweden)

    Ajit Auluck

    2006-01-01

    Full Text Available Scleroderma is a rare collagen disorder in which fibrosis of skin, subcutaneous tissues and muscles can occur with occasional involvement of bones. Localized scleroderma is a benign condition but can cause significant deformity when it affects the face. We report a case of localized scleroderma of the face causing progressive hemifacial atrophy.

  19. White Matter Hyperintensities, Medial Temporal Lobe Atrophy, Cortical Atrophy, and Response to Electroconvulsive Therapy in Severely Depressed Elderly Patients

    NARCIS (Netherlands)

    Oudega, Mardien L.; van Exel, Eric; Wattjes, Mike P.; Comijs, Hannie C.; Scheltens, Philip; Barkhof, Frederik; Eikelenboom, Piet; de Craen, Anton J. M.; Beekman, Aartjan T. F.; Stek, Max L.

    2011-01-01

    Objective: Electroconvulsive therapy (ECT) is a valuable treatment option in severely depressed elderly patients. Structural abnormalities in the brain, such as white matter hyperintensities, medial temporal lobe atrophy (MTA), or global cortical atrophy, may influence therapeutic response. The

  20. Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

    International Nuclear Information System (INIS)

    Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine; Flunker, Sabrina; Couture, Alain; Eurin, Danielle; Grange, Gilles; Garel, Catherine; Richter, Brigitte; Geissler, Frederic

    2008-01-01

    Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

  1. Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

    Energy Technology Data Exchange (ETDEWEB)

    Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine [Hopital Saint Vincent de Paul, Service de Radiopediatrie, Paris (France); Flunker, Sabrina; Couture, Alain [Hopital Arnaud de Villeneuve, Service de Radiopediatrie, Montpellier cedex 5 (France); Eurin, Danielle [Hopital Charles Nicolle, Service de Radiopediatrie, Rouen (France); Grange, Gilles [Hopital Cochin, Service de Gyneco-Obstetrique, Maternite Port-Royal, Paris (France); Garel, Catherine [Hopital Armand Trousseau, Service de Radiopediatrie, Paris (France); Richter, Brigitte [Hopital Clemenceau, Service de Radiopediatrie, Caen (France); Geissler, Frederic [Centre Hospitalier Universitaire, Service de Radiopediatrie, Clermont Ferrand (France)

    2008-04-15

    Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n = 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

  2. Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

    Science.gov (United States)

    Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

    2013-08-01

    Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

  3. New Trends in Management of Epilepsy in Patients with Cerebral Venous Malformations: Our Experience

    Directory of Open Access Journals (Sweden)

    Ivan P. Artyukhov

    2016-09-01

    Full Text Available Background: Venous vascular malformations, also known as venous angiomas or, more exactly, developmental venous anomalies (DVAs, represent congenital, anatomically variant pathways in the normal venous drainage of the brain area. In general neurological practice, DVAs are not considered epileptogenic, therefore, in conducting neuroimaging as a rule, not taken into account. A positive correlation, however, between the location of the DVAs and the electroencephalographic seizure focus is debated. Materials and Methods: The present study provides a complete analysis of clinical and MRI characteristics of symptomatic epilepsies associated with cerebral venous malformations in children and adults. Patients were selected after a retrospective search through the database of the Neurological Center of Epileptology, Neurogenetics and Brain Research of the University Clinic into which, since 2016, patients were prospectively entered. To date (February 2016, there is a total of 5,856 patients with epilepsy of which there are 105 patients with congenital malformations of the brain, and 32 of them were found to have principal diagnosis of DVA. Results: Cavernous angiomas prevailed among venous anomalies (53.1%; DVAs were registered in 46.9% of cases. The associated analysis of DVA localization and the epileptic seizure types showed a direct relationship in 60.0% cases. Conclusion: DVAs as a cause of seizures are important to consider when examining patients with epileptic seizures.

  4. Cerebral atrophy in Parkinson's disease - represented in CT

    International Nuclear Information System (INIS)

    Becker, H.; Schneider, E.; Hacker, H.; Fischer, P.A.; Frankfurt Univ.

    1979-01-01

    To clarify the importance of brain atrophy in relation to the symptoms of Parkinson's disease, 173 patients were examined by computed tomography (CT). In 51.4% of the CT findings, brain atrophy was considered to be pathological. Statistically significant relations of age and sex were found with regard to the extent and localization of brain atrophy. Cortical atrophy also showed a significant dependence on duration of disease. Linear measurements at the lateral ventricles and the third ventricle lead us to assume that brain atrophy in Parkinson's patients is more prevalent than in normal patients within the scope of age involution. (orig.)

  5. Rare presentation of an arteriovenous malformation within the internal auditory canal

    Directory of Open Access Journals (Sweden)

    Noor Sulieman

    2018-03-01

    Full Text Available While cerebral arteriovenous malformations (AVM are common, a presentation of this vascular lesion involving the internal auditory canal (IAC is rare. We describe a case of an un-ruptured AVM within the right IAC of a 55-year-old male who presented following a whiplash injury and left-ear (contralateral to the lesion unilateral non-pulsatile tinnitus. On magnetic resonance imaging (MRI, an incidental atypical linear enhancement suspicious for a vascular lesion within the right IAC was identified and investigated further using magnetic resonance angiography and venography (MRA/MRV, which illustrated serpentine flow voids that confirmed the presence of an AVM. Given the patient's intact hearing and rare location of the AVM, treatment options including watchful waiting, stereotactic radiosurgery, embolization, and microsurgery were discussed, of which observation was chosen.

  6. Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy

    Directory of Open Access Journals (Sweden)

    Aditi Jha

    2016-01-01

    Full Text Available Glomuvenous malformations (GVMs present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.

  7. Venous Thromboembolism in Pediatric Vascular Anomalies

    Directory of Open Access Journals (Sweden)

    Taizo A. Nakano

    2017-07-01

    Full Text Available The presence of a vascular anomaly suggests that capillaries, veins, arteries, and/or lymphatic vessels have demonstrated abnormal development and growth. Often dilated and misshaped, these vessels augment normal flow of blood and lymphatic fluids that increases the overall risk to develop intralesional thrombosis. Abnormal endothelial and lymphoendothelial cells activate hemostasis and hyperfibrinolytic pathways through poorly understood mechanisms, which contribute to the development of localized intravascular coagulopathy. Vascular malformations, tumors, and complex combined syndromes demonstrate varying degrees of prothrombotic activity and consumptive coagulopathy depending on the vessels involved and the pattern and extent of abnormal growth. The clinical impact of venous thromboembolism in pediatric vascular anomalies varies from painful syndromes that disrupt quality of life to life-threatening embolic disease. There remains little literature on the study, evaluation, and treatment of thrombosis in pediatric vascular anomalies. However, there have been great advances in our ability to image complex lesions, to surgically and interventionally augment disease, and to provide enhanced supportive care including patient education, compression therapy, and strategic use of anticoagulation.

  8. De Novo Arteriovenous Malformation after Aneurysm Clipping.

    Science.gov (United States)

    Shidoh, Satoka; Kobayashi, Masahito; Akaji, Kazunori; Kano, Tadashige; Tanizaki, Yoshio; Mihara, Ban

    2017-07-01

    We report a 73-year-old woman with de novo arteriovenous malformations (AVMs) that developed in the ipsilateral parietal lobe after craniotomy and aneurysm clipping. While intracerebral AVMs are considered to be congenital lesions, there have been several reported cases of acquired AVM arising after ischemic or traumatic episodes. We summarize previously reported cases of such acquired 'de novo' AVMs with a discussion of some pathophysiological responses or factors suggested to promote their development.

  9. Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita.

    Science.gov (United States)

    Samuel, Bennett P; Duffner, Ulrich A; Abdel-Mageed, Aly S; Vettukattil, Joseph J

    2015-01-01

    Pulmonary arteriovenous malformations (PAVMs) are rare lesions known to cause cyanosis due to abnormal communication between the pulmonary arteries and veins. They are commonly seen in association with hereditary hemorrhagic telangiectasia, congenital heart disease, hepatopulmonary syndrome, and portopulmonary shunting, but rarely in patients with dyskeratosis congenita (DC). We describe a patient previously diagnosed with DC confirmed to have microscopic PAVMs after bone marrow transplantation and discuss possible pathogenic mechanisms. © 2015 Wiley Periodicals, Inc.

  10. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    Reither, M.; Peltner, H.U.; Weigel, W.; Braune, M.; Heiming, E.

    1980-01-01

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.) [de

  11. NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

    Science.gov (United States)

    Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

    2017-08-10

    Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

  12. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  13. Abortion, premature delivery, stillborn, and malformations

    International Nuclear Information System (INIS)

    Sato, Yukio

    1992-01-01

    Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

  14. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  15. Developmental malformations of the cerebral cortex

    International Nuclear Information System (INIS)

    Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

    2010-01-01

    Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

  16. Neuroradiological evaluation of dorsal cyst malformations

    International Nuclear Information System (INIS)

    Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

    1988-01-01

    We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

  17. Developmental biology and the study of malformations.

    Science.gov (United States)

    Hughes, A F

    1976-05-01

    Experimental work on abnormal conditions of incubation in the chick has been undertaken to acquire a scientific approach to malformations. More precise experiments on causing abnormalities had a common origin with experimental embryology. Progress in experimental teratology during the last 50 years is reviewed in a commentary on the 4 principles formulated by Stockard in 1921. The results of cytogenetical studies in man and in other organisms have led to the tracing of some relationships between them. Present knowledge concerning malformations of the neural tube, originating either experimentally, spontaneously, or phenotypically, has been presented and the teratological implications of some recent theories on the expression of the genotype are discussed in particular reference to problems of hormones as teratogens, the implication of carbohydrate metabolism, and teratogenesis. It is speculated that teratogenesis is possibly related to cationic balance in early development and that 1 factor retarding progress in the understanding of malformations is the tendency toward the development of teratology in an adequately close relationship with other branches of cell biology.

  18. CT findings in Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

    1981-12-01

    CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

  19. Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition

    Directory of Open Access Journals (Sweden)

    Lucile Fievet

    2015-01-01

    Full Text Available In adults, congenital pulmonary malformations are candidates for surgery due to symptoms. A pre-natal diagnosis is simple and effective, and allows an early thoracoscopic surgical treatment. A retrospective study was performed to assess management in two different populations of adults and children to define the best strategy. Subjects and Methods: Pulmonary malformations followed at the University Hospital from 2000 to 2012 were reviewed. Clinical history, malformation site, duration of hospitalisation, complications and pathology examinations were collected. Results: A total of 52 cases (33 children, 19 adults were identified. In children, 28 asymptomatic cases were diagnosed pre-natally and 5 during the neonatal period due to infections. Surgery was performed on the children between the ages of 2 and 6 months. Nineteen adults underwent surgery, 16 because of symptoms and 3 adults for anomalies mimicking tumours. The mean age within the adult group was 42.5 years. In children, there was one thoracotomy and 32 thoracoscopies, with 7 conversions for difficult exposure, dissection of vascular pedicles, bleeding or bronchial injury. In the adults, there were 15 thoracotomies and 4 thoracoscopies, with one conversion. Post-operative complications in the adults were twice as frequent than in children. The mean time of the children′s hospitalisation was 7.75 days versus 7.16 days for the adults. Pathological examinations showed in the children: 7 sequestrations, 18 congenital cystic pulmonary malformations (CPAM, 8 CPAM associated sequestrations; in adults: 16 sequestrations, 3 intra-pulmonary cysts. Conclusion: Early thoracoscopic surgery allows pulmonary parenchyma conservation with pulmonary development, reduces respiratory and infectious complications, eliminates a false positive cancer diagnosis later in life and decreases risks of thoracic parietal deformation.

  20. The diagnostic dilemma of progressive muscular atrophy.

    Science.gov (United States)

    Ayaz, Saeed Bin; Matee, Sumeera; Gill, Zaheer Ahmed; Khan, Atif Ahmed

    2015-02-01

    Progressive muscle atrophy is a rare subtype of motor neuron disease that affects only the lower motor neurons and presents as asymmetrical rapidly progressive muscle weakness, atrophy and normal sensations. The diagnostic electrophysiological findings are denervation potentials in three out of four body segments (bulbar, cervical, thoracic and lumbosacral). The disease is fatal and the management is supportive. We present the report of a 45-year-old female patient who presented with unilateral foot drop and rapidly progressed to profound weakness in muscles of all limbs, neck and back along with dysarthria and dysphagia. She had been operated twice for suspected cervical and lumbosacral intervertebral disc herniations and ultimately guided in right direction after muscle biopsy, nerve conduction studies and electromyography.

  1. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

    1997-08-01

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

  2. Functional and morphological effects of resistance exercise on disuse-induced skeletal muscle atrophy

    Directory of Open Access Journals (Sweden)

    H. Nicastro

    2011-11-01

    Full Text Available Abstract The reduction of skeletal muscle loss in pathological states, such as muscle disuse, has considerable effects in terms of rehabilitation and quality of life. Since there is no currently effective and safe treatment available for skeletal muscle atrophy, the search for new alternatives is necessary. Resistance exercise (RE seems to be an important tool in the treatment of disuse-induced skeletal muscle atrophy by promoting positive functional (strength and power and structural (hypertrophy and phenotypic changes adaptive responses. Human and animal studies using different types of resistance exercise (flywheel, vascular occlusion, dynamic, isometric, and eccentric have obtained results of great importance. However, since RE is a complex phenomenon, lack of strict control of its variables (volume, frequency, intensity, muscle action, rest intervals limits the interpretation of the impact of the manipulation on skeletal muscle remodeling and function under disuse. The aim of this review is to critically describe the functional and morphological role of resistance exercise in disuse-induced skeletal muscle atrophy with emphasis on the principles of training.

  3. A newborn infant with congenital cerebral arteriovenous malformation, and congestive heart failure: case report

    Directory of Open Access Journals (Sweden)

    Hamed Tabasizadeh

    2017-06-01

    Full Text Available Background: Cerebral arteriovenous malformations are rare congenital anomalies presenting as different symptoms depending on their size and the age of patient. Congestive heart failure is a rare condition in neonatal period and is most common due to structural heart defects, but rarely may be a result of peripheral shunts such as cerebral arteriovenous malformation. Case presentation: A term male newborn infant who was delivered by Caesarean Section in Chamran Hospital, Ferdows, South Khorasan Province, June 2016. The infant was admitted to neonatal care unit due to nonreactive nonstress (NST with normal Apgar score. In first postpartum visit, a systolic heart murmur was detected. Echocardiography showed small atrial septal defect secundum type and patent foramen ovale (PFO. He presented clinical manifestations of heart failure after 72 hours of birth. Antibiotic and treatment of heart failure was started. Following excluding most common etiologies of heart failure such as sepsis, anemia and arrhythmias, for detecting less common conditions such as cerebral vascular aneurism a transfontanelle ultrasonography was performed which showed dilated cerebral venous system. Magnetic resonance imaging (MRI and Magnetic resonance venography (MRV revealed a large congenital cerebral arterio-venous malformation (CAVM, in right cerebral hemisphere. Finally, he was expired 9 days after birth due to severe heart failure before any definitive treatment for closing CAVM could be done.  Conclusion: CAVM are extremely rare vascular anomalies in newborns which may present occasionally as congestive heart failure in neonatal period. So after excluding other most common etiologies of heart failure such as structural heart defects, screening CAVMs should be done. Inspite of early diagnosis, usually they have extremely poor prognosis.

  4. Cerebellar and cerebral atrophy in trichothiodystrophy

    International Nuclear Information System (INIS)

    Yoon, Hye-Kyung; Sargent, Michael A.; Poskitt, Kenneth J.; Prendiville, Julie S.

    2005-01-01

    Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy. (orig.)

  5. Cerebellar and cerebral atrophy in trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye-Kyung; Sargent, Michael A.; Poskitt, Kenneth J. [British Columbia Children' s Hospital, Department of Radiology, Vancouver, BC (Canada); Prendiville, Julie S. [British Columbia Children' s Hospital, Division of Paediatric Dermatology, Department of Paediatrics, Vancouver, BC (Canada)

    2005-10-01

    Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy. (orig.)

  6. Space travel directly induces skeletal muscle atrophy

    Science.gov (United States)

    Vandenburgh, H.; Chromiak, J.; Shansky, J.; Del Tatto, M.; Lemaire, J.

    1999-01-01

    Space travel causes rapid and pronounced skeletal muscle wasting in humans that reduces their long-term flight capabilities. To develop effective countermeasures, the basis of this atrophy needs to be better understood. Space travel may cause muscle atrophy indirectly by altering circulating levels of factors such as growth hormone, glucocorticoids, and anabolic steroids and/or by a direct effect on the muscle fibers themselves. To determine whether skeletal muscle cells are directly affected by space travel, tissue-cultured avian skeletal muscle cells were tissue engineered into bioartificial muscles and flown in perfusion bioreactors for 9 to 10 days aboard the Space Transportation System (STS, i.e., Space Shuttle). Significant muscle fiber atrophy occurred due to a decrease in protein synthesis rates without alterations in protein degradation. Return of the muscle cells to Earth stimulated protein synthesis rates of both muscle-specific and extracellular matrix proteins relative to ground controls. These results show for the first time that skeletal muscle fibers are directly responsive to space travel and should be a target for countermeasure development.

  7. Proximal spinal muscular atrophy: current orthopedic perspective

    Directory of Open Access Journals (Sweden)

    Haaker G

    2013-11-01

    Full Text Available Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective "survival motor neuron" (SMN protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach. Keywords: spinal muscular atrophy, scoliosis, contractures, fractures, lung function, treatment, rehabilitation, surgery, ventilation, nutrition, perioperative management

  8. Cellular and molecular mechanisms of muscle atrophy

    Directory of Open Access Journals (Sweden)

    Paolo Bonaldo

    2013-01-01

    Full Text Available Skeletal muscle is a plastic organ that is maintained by multiple pathways regulating cell and protein turnover. During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of muscle fibers. Excessive loss of muscle mass is associated with poor prognosis in several diseases, including myopathies and muscular dystrophies, as well as in systemic disorders such as cancer, diabetes, sepsis and heart failure. Muscle loss also occurs during aging. In this paper, we review the key mechanisms that regulate the turnover of contractile proteins and organelles in muscle tissue, and discuss how impairments in these mechanisms can contribute to muscle atrophy. We also discuss how protein synthesis and degradation are coordinately regulated by signaling pathways that are influenced by mechanical stress, physical activity, and the availability of nutrients and growth factors. Understanding how these pathways regulate muscle mass will provide new therapeutic targets for the prevention and treatment of muscle atrophy in metabolic and neuromuscular diseases.

  9. Corpus callosum atrophy correlates with gray matter atrophy in patients with multiple sclerosis.

    Science.gov (United States)

    Klawiter, Eric C; Ceccarelli, Antonia; Arora, Ashish; Jackson, Jonathan; Bakshi, Sonya; Kim, Gloria; Miller, Jennifer; Tauhid, Shahamat; von Gizycki, Christian; Bakshi, Rohit; Neema, Mohit

    2015-01-01

    Atrophy of the corpus callosum is a recognized characteristic of multiple sclerosis (MS). We describe a new reliable method for measuring corpus callosum atrophy and correlate this with global cerebral atrophy measures. Whole brain 3T MRI was performed in 38 relapsing-remitting MS subjects and 21 healthy controls (HC). Brain global gray and white matter volumes were segmented with SPM8. The contour of the corpus callosum was outlined on the midline of 3-D T1-weighted images by a semiautomated edge-detection technique to determine the corpus callosum area (CCA). Normalized CCA was correlated with other brain atrophy measures in MS subjects. CCA was disproportionately lower in MS subjects vs. HC (20.1% mean decrease; P corpus callosum can have sensitivity as a useful imaging biomarker in patients with MS, even in patients with low disability levels. Both gray and white matter involvement in MS contribute to corpus callosum atrophy. Copyright © 2014 by the American Society of Neuroimaging.

  10. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.

    Science.gov (United States)

    Siddesh, Anjurani; Gupta, Geetika; Sharan, Ram; Agarwal, Meenal; Phadke, Shubha R

    2017-04-01

    Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings. This retrospective study was conducted in a tertiary care hospital in north India from January 2007 to December 2013. The details of cases with prenatally detected CNS malformations were collected and were related with the foetal chromosomal analysis and autopsy findings. Amongst 6044 prenatal ultrasonographic examinations performed; 768 (12.7%) had structural malformations and 243 (31.6%) had CNS malformations. Neural tube defects (NTDs) accounted for 52.3 per cent of CNS malformations and 16.5 per cent of all malformations. The other major groups of prenatally detected CNS malformations were ventriculomegaly and midline anomalies. Chromosomal abnormalities were detected in 8.2 per cent of the 73 cases studied. Foetal autopsy findings were available for 48 foetuses. Foetal autopsy identified additional findings in eight foetuses and the aetiological diagnosis changed in two of them (4.2%). Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

  11. Imaging and radiological-pathological correlation in histologically proven cases of focal cortical dysplasia and other glial and neuronoglial malformative lesions in adults

    Energy Technology Data Exchange (ETDEWEB)

    Gomez-Anson, B. [Dept. of Neuroradiology, Addenbrooke' s NHS Trust, Cambridge (United Kingdom); Thom, M.; Moran, N.; Stevens, J.; Scaravilli, F. [National Hospital for Neurology and Neurosurgery, London (United Kingdom)

    2000-03-01

    Focal cortical dysplasia (FCD) is a pathological entity first described in 1971. Other more subtle cortical malformations found in patients with epilepsy include microdysgenesis (MD), and glioneuronal hamartias. Although these glial and neuronoglial malformations have distinct histological features, there is terminological confusion in the radiological literature. Few cases have been reported in adults with both imaging and histology. We address these issues, giving a radiological-pathological correlation of histologically proven cortical malformations in adults. We describe clinical, radiological and histological features of 12 cases (five FCD, five MD with glioneuronal hamartias, and two hamartomas), unassociated with other conditions, and discuss them in the light of the literature. FCD is usually seen on MRI as cortical thickening, with or without signal change, which may extend into the adjacent white matter. On histology, abnormal neurons and/or glial cells, blurring of the grey-white matter interface, myelin pallor, demyelination, and gliosis may be found. Glioneuronal hamartias and hamartomas usually appear as complex masses on MRI. FCD and hamartias may be associated, and a combination of imaging findings may be seen on MRI. Atrophy of the ipsilateral hippocampus may be present on MRI in patients with hamartias, and minor cell loss on histology, but not definitive hippocampal sclerosis. Although the imaging findings of cortical malformations are protean, some characteristic MRI features, with histological correlates, may be found. The relevance of most of these observations remains unclear. (orig.)

  12. Imaging and radiological-pathological correlation in histologically proven cases of focal cortical dysplasia and other glial and neuronoglial malformative lesions in adults.

    Science.gov (United States)

    Gómez-Ansón, B; Thom, M; Moran, N; Stevens, J; Scaravilli, F

    2000-03-01

    Focal cortical dysplasia (FCD) is a pathological entity first described in 1971. Other more subtle cortical malformations found in patients with epilepsy include microdysgenesis (MD), and glioneuronal hamartias. Although these glial and neuronoglial malformations have distinct histological features, there is terminological confusion in the radiological literature. Few cases have been reported in adults with both imaging and histology. We address these issues, giving a radiological-pathological correlation of histologically proven cortical malformations in adults. We describe clinical, radiological and histological features of 12 cases (five FCD, five MD with glioneuronal hamartias, and two hamartomas), unassociated with other conditions, and discuss them in the light of the literature. FCD is usually seen on MRI as cortical thickening, with or without signal change, which may extend into the adjacent white matter. On histology, abnormal neurons and/or glial cells, blurring of the grey-white matter interface, myelin pallor, demyelination, and gliosis may be found. Glioneuronal hamartias and hamartomas usually appear as complex masses on MRI. FCD and hamartias may be associated, and a combination of imaging findings may be seen on MRI. Atrophy of the ipsilateral hippocampus may be present on MRI in patients with hamartias, and minor cell loss on histology, but not definitive hippocampal sclerosis. Although the imaging findings of cortical malformations are protean, some characteristic MRI features, with histological correlates, may be found. The relevance of most of these observations remains unclear.

  13. Fever in pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Sass, L.; Urhoj, S. K.; Kjærgaard, J.

    2017-01-01

    fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

  14. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  15. Haemangiomas and venous malformations of the head and neck: A retrospective analysis of endovascular management in 358 patients

    Directory of Open Access Journals (Sweden)

    Kumbhar Sachin

    2013-01-01

    Full Text Available Background: Haemangioma (HM and venous malformations of the head and neck are formidable lesions as they cause cosmetic deformity and psychological problems. Their surgical excision is difficult and fraught with problems like operative blood loss, incomplete excision, disfigurement and recurrence. Endovascular techniques like sclerotherapy and embolization are increasingly being used in the treatment of these difficult lesions. Objectives: This study was undertaken to analyse the efficacy and safety of endovascular techniques in the treatment of HM and slow flow vascular malformations. Materials and Methods: We retrospectively reviewed the records and clinical photographs of 358 patients of HM and slow flow vascular malformations treated in our institute by endovascular approach over a 15 year period. Pre- and post-treatment photographs were compared and outcomes categorized as complete resolution (>90% reduction, considerable reduction (60-90% reduction, partial reduction (20-60% reduction and no change (<20% reduction. Results: Complete resolution of the lesion was seen in 30% of the patients while 50% patients showed considerable reduction of the swelling. Complications occurred in 6.4% of patients. Conclusion: We conclude that sclerotherapy is an effective and safe treatment modality for these lesions and may be considered as the primary modality in the treatment of these challenging lesions.

  16. Clinico-roentgenological atlas of congenital malformations in human limbs

    International Nuclear Information System (INIS)

    Luzina, E.V.; Shakirov, Eh.A.

    1990-01-01

    The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

  17. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  18. Cranial CT signs of the Chiari II malformation

    International Nuclear Information System (INIS)

    Naidich, T.P.; Pudlowski, R.M.

    1980-01-01

    Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.) [de

  19. Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok [Cheongju St. Mary' s Hospital, Cheongju (Korea, Republic of)

    1999-09-01

    Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation.

  20. Imaging findings of arteriovenous malformations involving lung and liver in hereditary hemorrhagic telangiectasia(Osler-weber-rendu disease): two cases report

    International Nuclear Information System (INIS)

    Yi, Jeong Geun; Lee, Joo Hyuk; Seong, Su Ok

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by repeated episodes of bleeding. Multiple telangiectases consisting of thin-walled, dilated vascular channels with arteriovenous communication may involve, for example, mucocutaneous tissue, the gastrointestinal tract, and the liver, lung, and brain. We report the imaging findings of two cases of HHT involving arteriovenous malformation of both the lungs and liver, a rare condition. Chest radiography revealed a round mass, while helical CT showed a feeding artery and draining vein with arteriovenous malformation in the lung. Color Doppler sonography revealed an enlarged and tortuous hepatic artery with high systolic velocity. CT demonstrated an enlarged hepatic artery, arteriovenous shunt, and early draining hepatic vein in the liver. Celiac angiography showed arteriovenous malformation

  1. Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

    Science.gov (United States)

    Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

    2017-06-01

    The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

  2. MR imaging of anorectal malformations and associated anomalies

    International Nuclear Information System (INIS)

    Nievelstein, R.A.J.; Valk, J.; Vos, A.

    1998-01-01

    Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

  3. [Clinical analysis of 102 patients with congenital inner ear malformation].

    Science.gov (United States)

    Zhu, X; Lian, N; Cai, Z

    1995-01-01

    Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

  4. Ten years of laser treatment of congenital vascular disorders: techniques and results

    Science.gov (United States)

    Philipp, Carsten M.; Berlien, Hans-Peter; Poetke, Margitta; Waldschmidt, Juergen

    1994-12-01

    During the period of January 1984 - July 1993, we have treated 611 children with more than 2000 lesions of congenital vascular disorders (CVD) such as hemangiomas and vascular malformations. This number does not include the patients with port wine stains, which also have been treated by means of laser. Most of the CVD patients (n equals 467) presented hemangiomas of the face, the anogenital region, and the extremities, some were located in the trachea or mouth or in the urogenital tract. All of these hemangiomas were growing prior to intervention or showed complications such as bleeding, ulceration, superinfection, or obstruction. Nearly a quarter (n equals 144) of the patients presented vascular malformations, either of singular vessel type involvement or of mixed vascular genesis (venous, arterio- venous, veno-lymphatic or lymphatic) with various complications like tracheal obstruction or recurrent thrombophlebitis. According to our step program, which is based on a clinical classification, the hemangiomas were treated as early as possible, while the vascular malformations were only treated with laser when no other therapeutic technique (embolization, resection) was suitable. All patients were referred for laser treatment from other centers. The lasers used were Nd:YAG and Argon lasers with transcutaneous application with or without continuous ice-cube surface cooling or interstitial laser application. The treatments were performed either on in- or outpatient basis according to age, localization and with good to excellent results in most cases and a complication rate of less than 2%.

  5. Network structure of brain atrophy in de novo Parkinson's disease.

    Science.gov (United States)

    Zeighami, Yashar; Ulla, Miguel; Iturria-Medina, Yasser; Dadar, Mahsa; Zhang, Yu; Larcher, Kevin Michel-Herve; Fonov, Vladimir; Evans, Alan C; Collins, D Louis; Dagher, Alain

    2015-09-07

    We mapped the distribution of atrophy in Parkinson's disease (PD) using magnetic resonance imaging (MRI) and clinical data from 232 PD patients and 117 controls from the Parkinson's Progression Markers Initiative. Deformation-based morphometry and independent component analysis identified PD-specific atrophy in the midbrain, basal ganglia, basal forebrain, medial temporal lobe, and discrete cortical regions. The degree of atrophy reflected clinical measures of disease severity. The spatial pattern of atrophy demonstrated overlap with intrinsic networks present in healthy brain, as derived from functional MRI. Moreover, the degree of atrophy in each brain region reflected its functional and anatomical proximity to a presumed disease epicenter in the substantia nigra, compatible with a trans-neuronal spread of the disease. These results support a network-spread mechanism in PD. Finally, the atrophy pattern in PD was also seen in healthy aging, where it also correlated with the loss of striatal dopaminergic innervation.

  6. Somatic Mutations in Cerebral Cortical Malformations

    Science.gov (United States)

    Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

    2014-01-01

    BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. RESULTS Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. CONCLUSIONS Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.) PMID:25140959

  7. [Obstructive azoospermia and malformations of seminal tract].

    Science.gov (United States)

    Terrone, C; Ceratti, G; Bonazzi, A; Rocca Rossetti, S; Bianchi, M

    1996-12-01

    About 10% of the cases of male infertility is represented by the obstruction of the seminal tract, which may be congenital or secondary to inflammatory events or surgery. The most frequent obstructive malformation of the seminal tract is the bilateral agenesia of the vas deferens. Such malformation is typical of the cystic fibrosis (CF), an autosomal recessive disorder determining chronic respiratory infections with bronchiectasia, and pancreatic failure. Recently the defective gene responsible for CF has been identified on the long arm of the chromosome 7. Congenital bilateral absence of the vas deferens (CBAVD) may be present in otherwise healthy males without clinical evidence of CF. Genetics studies demonstrated that most CBAVD display at least one detectable CF mutation, therefore this disease can be considered as an incomplete clinical form of CF. With the realization that a man with CBAVD may have CF, albeit a genital form, considerable care is required not only to document his specific mutations, but also to test his partner for CF mutations to evaluate the risk that their child would have CF. The association of chronic suppurating respiratory disease with obstructive azoospermia characterizes also the Young's syndrome. In this disease the obstruction could possibly be the result of defective epididymal sperm transport, related to an abnormality in the mucus. Despite some clinical common aspects, CF and Young's syndrome are two distinct entity. In fact, no CF mutations have been demonstrated in Young's syndrome. Congenital obstructive abnormalities of the vas deferens and epididymis are often associate to cryptorchidism (36-68% of the cases) and to patent processus vaginalis. The degree of testicular retention and processus vaginalis closure correlates well with the incidence of associated epididymal defects. Rare causes of congenital obstructive azoospermia are represent by the cyst of Müllerian or Wolffian origin. An obstruction to the progression of the

  8. [The newborn with cardiological problems. The dilemma between malformative and non-malformative pathology].

    Science.gov (United States)

    Distefano, G

    2003-04-01

    Cardiovascular impairment is frequent during the neonatal period and can be expression of malformative or not-malformative pathology. In both conditions the clinical presentation is often dramatic with cyanosis and/or heart failure. The neonatologist has to make differential diagnosis as soon as possible, because cardiac malformations in the neonatal period are usually ductus arteriosus-dependent and can worsen suddenly after its closure. Since colour Doppler-echocardiography is not available in all the neonatal units in order to be helped in the diagnosis, it is very important that neonatologists learn to use the indications obtained with a careful physical examination and with some simple instrumental tests, as chest X-ray, electrocardiogram and blood gas analysis. In this article a review is made of the most frequent heart malformations associated with cyanosis and/or heart failure during the neonatal period (complete transposition of the great arteries, Fallot's tetralogy, tricuspid and pulmonary atresia, aortic coarctation, interventricular septal defect, persistence of ductus arteriosus) and the most common neonatal pathologic conditions simulating congenital heart diseases (persistence of fetal circulation, neonatal transitory myocardial ischemia, hypervolemia, hypoglycemia, hypocalcemia). Some clinical, instrumental and laboratory findings that could be useful for the diagnosis in absence of echocardiography are also reported.

  9. Body growth in urinary tract malformations.

    Science.gov (United States)

    Seidel, C; Schaefer, F; Schärer, K

    1993-04-01

    Body height and height velocity were analysed in 54 children with obstructive urinary tract malformations over a mean period of 8.7 years, using new auxological methods. At the time of diagnosis, 9% of patients had a height of more than 2 standard deviations below the normal mean. Mean relative height changed significantly from the first to the last observation, the standard deviation score (SDS) increasing from -0.16 to +0.36 in patients with hydronephrosis compared with normal children (P pubertal spurt. Final height and target height calculated from parents' height differed only slightly from that of the normal population.

  10. Unique double recurrence of cerebral arteriovenous malformation.

    Science.gov (United States)

    Nagm, Alhusain; Horiuchi, Tetsuyoshi; Ichinose, Shunsuke; Hongo, Kazuhiro

    2015-09-01

    Surgically treated patients with arteriovenous malformations (AVMs) are considered cured when the postoperative angiogram proves complete resection. However, despite no residual nidus or early draining vein on postoperative angiogram, rare instances of AVM recurrence have been reported in adults. In this paper, the authors present a case of a 24-year-old woman with asymptomatic double recurrence of her cerebral AVM after angiographically proven complete resection. To the authors' knowledge, this patient represents the first case with double de novo asymptomatic recurrence of Spetzler-Martin grade I AVM. Also, she represents the first case with unique AVM criteria in each recurrence.

  11. Novel in vitro platform to investigate myotube atrophy

    OpenAIRE

    Oelkrug, Christopher; Horn, Katharina; Makert, Gustavo R.; Schubert, Andreas

    2015-01-01

    The electrical current exclusion (ECE) principle provides an alternative to common methods of cell diameter measurement and especially in atrophy and cancer associated cachexia research. C2C12 myoblasts were differentiated into myotubes and treated with 100 μM dexamethasone to induce atrophy in vitro. Subsequently, they were incubated for 24 h with media containing different concentrations of curcumin and/or branched-chain amino acids (BCAAs) in order to counteract atrophy. After treatment wi...

  12. Automated tracking of the vascular tree on DSA images

    International Nuclear Information System (INIS)

    Alperin, N.; Hoffmann, K.R.; Doi, K.

    1990-01-01

    Determination of the vascular tree structure is important for reconstruction of three-dimensional vascular tree from biplane images, for assessment of the significance of a lesion, and for planning treatment for arteriovenous malformation. To automate these analyses, the authors of this paper are developing a method to determine the vascular tree structure from digital subtraction angiography (DSA) images. The authors have previously described a vessel tracking method, based on the double-square-box technique. To improve the tracking accuracy, they have developed and integrated with the previous method a connectivity test and guided-sector-search technique. The connectivity test, based on region growing techniques, eliminates tracking across nonvessel regions. The guided sector-search method incorporates information from a larger are of the image to guide the search for the next tracking point

  13. Acceleration of hippocampal atrophy rates in asymptomatic amyloidosis.

    Science.gov (United States)

    Andrews, K Abigail; Frost, Chris; Modat, Marc; Cardoso, M Jorge; Rowe, Chris C; Villemagne, Victor; Fox, Nick C; Ourselin, Sebastien; Schott, Jonathan M

    2016-03-01

    Increased rates of brain atrophy measured from serial magnetic resonance imaging precede symptom onset in Alzheimer's disease and may be useful outcome measures for prodromal clinical trials. Appropriate trial design requires a detailed understanding of the relationships between β-amyloid load and accumulation, and rate of brain change at this stage of the disease. Fifty-two healthy individuals (72.3 ± 6.9 years) from Australian Imaging, Biomarkers and Lifestyle Study of Aging had serial (0, 18 m, 36 m) magnetic resonance imaging, (0, 18 m) Pittsburgh compound B positron emission tomography, and clinical assessments. We calculated rates of whole brain and hippocampal atrophy, ventricular enlargement, amyloid accumulation, and cognitive decline. Over 3 years, rates of whole brain atrophy (p atrophy (p = 0.001, p = 0.023), and ventricular expansion (p atrophy rates were also independently associated with β-amyloid accumulation over the first 18 months (p = 0.003). Acceleration of left hippocampal atrophy rate was associated with baseline β-amyloid load across the cohort (p atrophy are associated with both baseline β-amyloid load and accumulation, and that there is presymptomatic, amyloid-mediated acceleration of hippocampal atrophy. Clinical trials using rate of hippocampal atrophy as an outcome measure should not assume linear decline in the presymptomatic phase. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Mechanisms regulating skeletal muscle growth and atrophy.

    Science.gov (United States)

    Schiaffino, Stefano; Dyar, Kenneth A; Ciciliot, Stefano; Blaauw, Bert; Sandri, Marco

    2013-09-01

    Skeletal muscle mass increases during postnatal development through a process of hypertrophy, i.e. enlargement of individual muscle fibers, and a similar process may be induced in adult skeletal muscle in response to contractile activity, such as strength exercise, and specific hormones, such as androgens and β-adrenergic agonists. Muscle hypertrophy occurs when the overall rates of protein synthesis exceed the rates of protein degradation. Two major signaling pathways control protein synthesis, the IGF1-Akt-mTOR pathway, acting as a positive regulator, and the myostatin-Smad2/3 pathway, acting as a negative regulator, and additional pathways have recently been identified. Proliferation and fusion of satellite cells, leading to an increase in the number of myonuclei, may also contribute to muscle growth during early but not late stages of postnatal development and in some forms of muscle hypertrophy in the adult. Muscle atrophy occurs when protein degradation rates exceed protein synthesis, and may be induced in adult skeletal muscle in a variety of conditions, including starvation, denervation, cancer cachexia, heart failure and aging. Two major protein degradation pathways, the proteasomal and the autophagic-lysosomal pathways, are activated during muscle atrophy and variably contribute to the loss of muscle mass. These pathways involve a variety of atrophy-related genes or atrogenes, which are controlled by specific transcription factors, such as FoxO3, which is negatively regulated by Akt, and NF-κB, which is activated by inflammatory cytokines. © 2013 The Authors Journal compilation © 2013 FEBS.

  15. Congenital malformations of pediatric surgical interest: prevalence, risk factors, and prenatal diagnosis between 2005 and 2012 in the capital city of a developing country. Bogotá, Colombia.

    Science.gov (United States)

    Correa, Catalina; Mallarino, Christina; Peña, Rafael; Rincón, Luis Carlos; Gracia, Gloria; Zarante, Ignacio

    2014-07-01

    Congenital anomalies (CAs) cause nearly one third of infant deaths worldwide. Various surveillance systems have been established, such as the Bogota Congenital Malformations Surveillance Program (BCMSP). Some CAs are of special interest to pediatric surgeons: omphalocele, gastroschisis, intestinal and esophageal atresia, anorectal malformations, vascular anomalies, diaphragmatic hernias, hypospadias and cryptorchidism. The aim of this study is to determine the prevalence of such CAs, and identify possible risk factors. Data from the BCMSP were collected between January 2005 and April 2012. CAs were classified in accordance with the ICD-10 and grouped for analysis purposes. Data on CA frequencies were obtained from the BCMSP. Association analyses were performed using the case-control methodology. 282,523 births were registered. 4682 (1.66%) had one or more CAs at birth. The prevalence of CAs requiring pediatric surgery was 1 in 1000. The most frequent CAs were vascular anomalies, hypospadias, and anorectal malformations. Exposure to external factors was significantly associated with selected CAs. 51% of selected birth defects were not diagnosed in prenatal ultrasound. This study highlights the importance of evaluating the local prevalence of congenital malformations. We propose the creation of specialized centers in Bogota to manage patients with CAs. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Collagen vascular disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001223.htm Collagen vascular disease To use the sharing features on ... were previously said to have "connective tissue" or "collagen vascular" disease. We now have names for many ...

  17. Vascular Anomalies in Pediatrics.

    Science.gov (United States)

    Foley, Lisa S; Kulungowski, Ann M

    2015-08-01

    A standardized classification system allows improvements in diagnostic accuracy. Multidisciplinary vascular anomaly centers combine medical, surgical, radiologic, and pathologic expertise. This collaborative approach tailors treatment and management of vascular anomalies for affected individuals.

  18. Peripheral Vascular Disease

    Science.gov (United States)

    ... Topics FAQs Peripheral Vascular Disease Peripheral vascular disease (PVD) involves damage to or blockage in the blood ... the organs in and below your stomach area. PVD may also affect the arteries leading to your ...

  19. Cardiac atrophy after bed rest and spaceflight

    Science.gov (United States)

    Perhonen, M. A.; Franco, F.; Lane, L. D.; Buckey, J. C.; Blomqvist, C. G.; Zerwekh, J. E.; Peshock, R. M.; Weatherall, P. T.; Levine, B. D.

    2001-01-01

    Cardiac muscle adapts well to changes in loading conditions. For example, left ventricular (LV) hypertrophy may be induced physiologically (via exercise training) or pathologically (via hypertension or valvular heart disease). If hypertension is treated, LV hypertrophy regresses, suggesting a sensitivity to LV work. However, whether physical inactivity in nonathletic populations causes adaptive changes in LV mass or even frank atrophy is not clear. We exposed previously sedentary men to 6 (n = 5) and 12 (n = 3) wk of horizontal bed rest. LV and right ventricular (RV) mass and end-diastolic volume were measured using cine magnetic resonance imaging (MRI) at 2, 6, and 12 wk of bed rest; five healthy men were also studied before and after at least 6 wk of routine daily activities as controls. In addition, four astronauts were exposed to the complete elimination of hydrostatic gradients during a spaceflight of 10 days. During bed rest, LV mass decreased by 8.0 +/- 2.2% (P = 0.005) after 6 wk with an additional atrophy of 7.6 +/- 2.3% in the subjects who remained in bed for 12 wk; there was no change in LV mass for the control subjects (153.0 +/- 12.2 vs. 153.4 +/- 12.1 g, P = 0.81). Mean wall thickness decreased (4 +/- 2.5%, P = 0.01) after 6 wk of bed rest associated with the decrease in LV mass, suggesting a physiological remodeling with respect to altered load. LV end-diastolic volume decreased by 14 +/- 1.7% (P = 0.002) after 2 wk of bed rest and changed minimally thereafter. After 6 wk of bed rest, RV free wall mass decreased by 10 +/- 2.7% (P = 0.06) and RV end-diastolic volume by 16 +/- 7.9% (P = 0.06). After spaceflight, LV mass decreased by 12 +/- 6.9% (P = 0.07). In conclusion, cardiac atrophy occurs during prolonged (6 wk) horizontal bed rest and may also occur after short-term spaceflight. We suggest that cardiac atrophy is due to a physiological adaptation to reduced myocardial load and work in real or simulated microgravity and demonstrates the plasticity

  20. Quantitative volumetric analysis of head and neck venous and lymphatic malformations to assess response to percutaneous sclerotherapy.

    Science.gov (United States)

    Alexander, Matthew D; McTaggart, Ryan A; Choudhri, Omar A; Pandit, Rajul P; Wu, Allison; Ross, Michael; Do, Huy M

    2016-02-01

    Venous and lymphatic malformations of the head and neck can be successfully treated with percutaneous sclerotherapy. To examine the utility of three-dimensional volumetric analysis to assess these lesions and their response to therapy. Prospectively maintained procedure records were retrospectively reviewed to identify all patients with vascular malformations who underwent percutaneous sclerotherapy. Clinical data were used to classify lesions by apparent size and degree of visible physical asymmetry due to the lesions. Lesion volume was calculated using magnetic resonance images. Cohen's weighted kappa coefficients were calculated to assess both intra- and inter-rater agreement. Pearson coefficients were calculated to identify correlation between clinical and volumetric measures, both at initial diagnosis and following treatment. Thirty-seven patients with head and neck venous or lymphatic malformations underwent 55 treatment sessions. Cohen's weighted kappa coefficients were 0.84 and 0.77 for intra- and inter-rater agreement, respectively. Clinical size did not significantly correlate with measured volume at diagnosis (ρ = 0.08, P = 0.57). For lymphatic malformations, total lesion volume correlated with volume of macrocystic components (ρ = 0.47, P < 0.01). Total volume reduction significantly correlated with clinical response grade (ρ = 0.46, P = 0.02). For lymphatic malformations, reduction of volume of the macrocystic component significantly correlated with clinical response grade (ρ = 0.44, P = 0.03). Changes in calculated volume corresponded to clinical measures of treatment response. Variability of qualitative approaches to lesion analysis may have led to the lack of correlation between initial size of a lesion based on clinical measures and calculated volume. Future research should include quantitative metrics to augment qualitative clinical results. © The Foundation Acta Radiologica 2015.

  1. Twin pregnancy in the congenital malformed uterus.

    Science.gov (United States)

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  2. Imaging in spine and spinal cord malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rossi, Andrea E-mail: a.rossi@panet.itandrearossi@ospedale-gaslini.ge.it; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo

    2004-05-01

    Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis.

  3. Evolutionary hypothesis for Chiari type I malformation.

    Science.gov (United States)

    Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme

    2013-10-01

    Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (≥5 mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7 million years. Copyright © 2013 Elsevier Ltd. All rights reserved.

  4. Three dimensional animated images of anorectal malformations

    International Nuclear Information System (INIS)

    Ueno, Shigeru; Yanagimachi, Noriharu; Muro, Isao; Komiya, Taizo; Yokoyama, Seishichi; Hirakawa, Hitoshi; Tajima, Tomoo; Mitomi, Toshio; Suto, Yasuzo.

    1996-01-01

    Accurate reconstruction of the pelvic structures is a most important factor in obtaining a desirable result after anorectoplasty for a patient with anorectal malformation. Preoperative evaluation of the anatomy is indispensable for choosing an appropriate operative method in each case. To facilitate preoperative evaluation, three dimensional animated images of the pelvic structure of patients with anorectal malformations were constructed by computer graphics based upon tomographic images obtained from magnetic resonance imaging. Axial 1-mm thick images of the pelvic portion were generated with spoiling pulse gradient echo sequences using short repetition times (13 msec TR) and short echo times (6 msec TE) with a flip angle of 25 degrees with the patient in the jack-knife position. Graphic data from MR images were transferred to a graphic work station and processed on it. The skin surface, the ano-rectum, the lower urinary tract and the sphincter musculature were segmented by thresholding images by the signal intensity. Three dimensional images were displayed by surface rendering method using the segmented data of each organ and then animation images of these organs were obtained. The anatomy of each type of anomaly was easily recognized by 3-D visualization, and animation of the pelvic viscera and the sphincter musculature made the images more realistic. Animated images of the musculature were especially useful for simulating surgical procedures and could be helpful for reviewing surgical results. (author)

  5. NPHP4 variants are associated with pleiotropic heart malformations.

    NARCIS (Netherlands)

    French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

    2012-01-01

    RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic

  6. NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

    NARCIS (Netherlands)

    French, Vanessa M.; van de Laar, Ingrid M. B. H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M. E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

    2012-01-01

    Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identify genetic

  7. Profile of congenital malformations in Sagamu, Nigeria | Oloyede ...

    African Journals Online (AJOL)

    The profile of congenital malformations seen in Sagamu, Southwestern Nigeria during a period of eight years is described. The result of this retrospective cross sectional study showed an incidence of congenital malformation of 10.7 per 1000 live births. Low order of parity (1 and 2) was mostly affected (65.8%), and 80.0% of ...

  8. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

  9. Multiple congenital skeletal malformations in a lamb associated with ...

    African Journals Online (AJOL)

    Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

  10. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  11. Dandy-Walker malformation | Hamid | Egyptian Journal of Medical ...

    African Journals Online (AJOL)

    Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

  12. Congenital malformation of the systemic heart of Sepia officinalis l ...

    African Journals Online (AJOL)

    Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

  13. First report of microcephaly-capillary malformations syndrome in ...

    African Journals Online (AJOL)

    Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

  14. Pattern of anorectal malformations and early outcomes of ...

    African Journals Online (AJOL)

    Subjects: All infants diagnosed with ARM (Anorectal malformations) at MTRH from November 2011 to April 2013. Main outcome measures: Sub-types of the Anorectal malformations, coexisting abnormalities morbidity and mortality rates. Results: There were 42 participants including 24 (57%) males and 18 (43%) females.

  15. Lymphatic Malformation Architecture: Implications for Treatment With OK-432.

    Science.gov (United States)

    Malic, Claudia C; Guilfoyle, Regan; Courtemanche, Rebecca J M; Arneja, Jugpal S; Heran, Manraj K S; Courtemanche, Douglas J

    2017-10-01

    Herein, the authors aim to describe their findings of novel architectural types of lymphatic malformations (LM) and explain the relationship between these architectures and OK-432 treatment outcomes. A retrospective review was conducted of all patients diagnosed with a LM treated with OK-432 at the Vascular Anomalies Clinic at BC Children's Hospital from December 2002 to January 2012. Twenty-seven patients were included in the study. Sixty percent of lesions were present by 2 years of age with the majority located in the head and neck (59%). The average number of sclerotherapy procedures was 1.4 per patient. Treatment under fluoroscopic guidance revealed 3 new LM architectures: open-cell microcystic, closed-cell microcystic, and lymphatic channel. Response to treatment was complete or good for 14/19 macrocystic and for 1/2 mixed lesions. Open-cell microcystic LMs gave a complete or good response for 3/3, which was attributed to OK-432 freely communicating between cysts. Closed-cell microcystic LM had localized cysts that did not allow OK-432 to freely communicate and were associated with partial responses, 2/2. The lymphatic channel had a partial response. There were 2 minor complications and 1 instance of recurrence. The identification of 3 new LM architectures expands the current accepted classification to include: open-cell microcystic, closed-cell microcystic, and lymphatic channels. The majority of complete responses to OK-432 were found with macrocystic lesions. Open-cell microcystic lesions respond better to OK-432 than closed-cell microcystic lesions, and lymphatic channels may respond to OK-432. These key architecture-response relationships have direct clinical implications for treatment with OK-432 sclerotherapy.

  16. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

    2009-01-01

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  17. Transcatheter arterial embolization for congenital renal arteriovenous malformation

    International Nuclear Information System (INIS)

    Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

    2008-01-01

    Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

  18. Congenital malformations of the external and middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, S. [University of Halle, Department of Diagnostic Radiology (Germany)], E-mail: sabrina.koesling@medizin.uni-halle.de; Omenzetter, M. [University of Halle, Department of Diagnostic Radiology (Germany); Bartel-Friedrich, S. [University of Halle, Department of Otorhinolaryngology - Head and Neck Surgery, Section of Phoniatrics and Pedaudiology (Germany)

    2009-02-15

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented.

  19. Abnormal pain perception in patients with Multiple System Atrophy.

    Science.gov (United States)

    Ory-Magne, F; Pellaprat, J; Harroch, E; Galitzsky, M; Rousseau, V; Pavy-Le Traon, A; Rascol, O; Gerdelat, A; Brefel-Courbon, C

    2018-03-01

    Patients with Parkinson's disease or Multiple System Atrophy frequently experience painful sensations. The few studies investigating pain mechanisms in Multiple System Atrophy patients have reported contradictory results. In our study, we compared pain thresholds in Multiple System Atrophy and Parkinson's disease patients and healthy controls and evaluated the effect of l-DOPA on pain thresholds. We assessed subjective and objective pain thresholds (using a thermotest and RIII reflex), and pain tolerance in OFF and ON conditions, clinical pain, motor and psychological evaluation. Pain was reported in 78.6% of Multiple System Atrophy patients and in 37.5% of Parkinson's disease patients. In the OFF condition, subjective and objective pain thresholds were significantly lower in Multiple System Atrophy patients than in healthy controls (43.8 °C ± 1.3 vs 45.7 °C ± 0.8; p = 0.0005 and 7.4 mA ± 3.8 vs 13.7 mA ± 2.8; p = 0.002, respectively). They were also significantly reduced in Multiple System Atrophy compared to Parkinson's disease patients. No significant difference was found in pain tolerance for the 3 groups and in the effect of l-DOPA on pain thresholds in Multiple System Atrophy and Parkinson's disease patients. In the ON condition, pain tolerance tended to be reduced in Multiple System Atrophy versus Parkinson's disease patients (p = 0.05). Multiple System Atrophy patients had an increase in pain perception compared to Parkinson's disease patients and healthy controls. The l-DOPA effect was similar for pain thresholds in Multiple System Atrophy and Parkinson's disease patients, but tended to worsen pain tolerance in Multiple System Atrophy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  20. Urogenital atrophy: diagnosis, sequelae, and management.

    Science.gov (United States)

    Keil, Kristinell

    2002-08-01

    It is estimated that 17% of our population will be over the age of 65 by the year 2030. As the body ages, many physiologic processes begin to decline. Health-care providers will need to be well-educated in the many sequelae of aging. Practitioners will especially need to focus on the health-care needs of women, since women have a longer life expectancy than men. Estrogen deprivation occurs in all women. Some will not have any symptoms, while others may experience all of its debilitating side effects: hot flashes, osteoporosis, insomnia, irritability, depression, and urogenital atrophy. Even though the latter is not life-threatening, it can alter a woman's quality of life considerably. Because it is easily treatable with minimal risk, all practitioners should become familiar with its presentation and management. This article discusses the many sequelae of urogenital atrophy: vulvovaginal irritation, urinary tract irritative symptoms and infection, urinary incontinence, and sexual dysfunction. Diagnosis and current management strategies are also discussed in detail.

  1. Advances in spinal muscular atrophy therapeutics.

    Science.gov (United States)

    Parente, Valeria; Corti, Stefania

    2018-01-01

    Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the SMN1 gene. In the absence of treatments able to modify the disease course, a considerable burden falls on patients and their families. Greater knowledge of the molecular basis of SMA pathogenesis has fuelled the development of potential therapeutic approaches, which are illustrated here. Nusinersen, a modified antisense oligonucleotide that modulates the splicing of the SMN2 mRNA transcript, is the first approved drug for all types of SMA. Moreover, the first gene therapy clinical trial using adeno-associated virus (AAV) vectors encoding SMN reported positive results in survival and motor milestones achievement. In addition, other strategies are in the pipeline, including modulation of SMN2 transcripts, neuroprotection, and targeting an increasing number of other peripheral targets, including the skeletal muscle. Based on this premise, it is reasonable to expect that therapeutic approaches aimed at treating SMA will soon be changed, and improved, in a meaningful way. We discuss the challenges with regard to the development of novel treatments for patients with SMA, and depict the current and future scenarios as the field enters into a new era of promising effective treatments.

  2. Oats induced villous atrophy in coeliac disease

    Science.gov (United States)

    Lundin, K E A; Nilsen, E M; Scott, H G; Løberg, E M; Gjøen, A; Bratlie, J; Skar, V; Mendez, E; Løvik, A; Kett, K

    2003-01-01

    The current trend is to allow coeliac disease (CD) patients to introduce oats to their gluten free diet. We sought further data from the clinical setting with regards to oats consumption by coeliac patients. Several oat products were tested for wheat contamination using a commercial enzyme linked immunoassay (ELISA) kit, and six samples were examined by an ELISA using a cocktail of monoclonal antibodies, mass spectrometry, and western blot analysis. Nineteen adult CD patients on a gluten free diet were challenged with 50 g of oats per day for 12 weeks. Serological testing and gastroduodenoscopy was performed before and after the challenge. Biopsies were scored histologically and levels of mRNA specific for interferon γ were determined by reverse transcription-polymerase chain reaction analysis. Oats were well tolerated by most patients but several reported initial abdominal discomfort and bloating. One of the patients developed partial villous atrophy and a rash during the first oats challenge. She subsequently improved on an oats free diet but developed subtotal villous atrophy and dramatic dermatitis during a second challenge. Five of the patients showed positive levels of interferon γ mRNA after challenge. Some concerns therefore remain with respect to the safety of oats for coeliacs. PMID:14570737

  3. Geographic atrophy: Etiopathogenesis and current therapies.

    Science.gov (United States)

    Sastre-Ibáñez, M; Barreiro-González, A; Gallego-Pinazo, R; Dolz-Marco, R; García-Armendariz, B

    2018-01-01

    Geographic atrophy is characterized by severe visual deficit whose etiology and pathophysiology are yet to be elucidated. As a working hypothesis, oxidative damage could trigger a chronic inflammation in Bruch's membrane-RPE-choriocapillaris complex, mostly due to complement pathway overactivation. Some individuals with mutations in the complement system and other factors have diminished capacity in the modulation of the inflammatory response, which results in cell damage and waste accumulation. This accumulation of intracellular and extracellular waste products manifests as drusen and pigmentary changes that precede the atrophy of photoreceptors, RPE, choriocapillaris with an ischemic process with decreased choroid flow. All these processes can be detected as tomographic findings and autofluorescence signals that are useful in the evaluation of patients with atrophic AMD, which helps to establish an individualized prognosis. Anti-inflammatory, antioxidant and therapies that decrease the accumulation of toxins for the preservation of the RPE cells and photoreceptors are being investigated in order to slow down the progression of this disease. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  4. Hippocampal Atrophy Following Subarachnoid Hemorrhage Correlates with Disruption of Astrocyte Morphology and Capillary Coverage by AQP4

    DEFF Research Database (Denmark)

    Anzabi, Maryam; Ardalan, Maryam; Iversen, Nina Kerting

    2018-01-01

    techniques to detect differences in astrocyte morphology, and global spatial sampling method was used to quantify the length density of Aquaporin-4 (AQP4) positive capillaries. Our results indicated that hippocampal volume, as measured both by MRI and by histological approaches, was significantly lower...... in SAH animals than in the sham-operated group. Accordingly, in this animal model of SAH, hippocampal atrophy existed already at the time of DCI onset in humans. SAH induced retraction of GFAP positive astrocyte processes, accompanied by a significant reduction in the length density of AQP4 positive...... capillaries as well as narrowing of hippocampal capillaries. Meanwhile, astrocyte volume was higher in SAH mice compared with the sham-operated group. Morphological changes in hippocampal astrocytes seemingly disrupt glia-vascular interactions early after SAH and may contribute to hippocampal atrophy. We...

  5. Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.

    Science.gov (United States)

    Sadda, Srinivas R; Guymer, Robyn; Holz, Frank G; Schmitz-Valckenberg, Steffen; Curcio, Christine A; Bird, Alan C; Blodi, Barbara A; Bottoni, Ferdinando; Chakravarthy, Usha; Chew, Emily Y; Csaky, Karl; Danis, Ronald P; Fleckenstein, Monika; Freund, K Bailey; Grunwald, Juan; Hoyng, Carel B; Jaffe, Glenn J; Liakopoulos, Sandra; Monés, Jordi M; Pauleikhoff, Daniel; Rosenfeld, Philip J; Sarraf, David; Spaide, Richard F; Tadayoni, Ramin; Tufail, Adnan; Wolf, Sebastian; Staurenghi, Giovanni

    2018-04-01

    To develop consensus terminology and criteria for defining atrophy based on OCT findings in the setting of age-related macular degeneration (AMD). Consensus meeting. Panel of retina specialists, image reading center experts, retinal histologists, and optics engineers. As part of the Classification of Atrophy Meetings (CAM) program, an international group of experts surveyed the existing literature, performed a masked analysis of longitudinal multimodal imaging for a series of eyes with AMD, and reviewed the results of this analysis to define areas of agreement and disagreement. Through consensus discussions at 3 meetings over 12 months, a classification system based on OCT was proposed for atrophy secondary to AMD. Specific criteria were defined to establish the presence of atrophy. A consensus classification system for atrophy and OCT-based criteria to identify atrophy. OCT was proposed as the reference standard or base imaging method to diagnose and stage atrophy. Other methods, including fundus autofluorescence, near-infrared reflectance, and color imaging, provided complementary and confirmatory information. Recognizing that photoreceptor atrophy can occur without retinal pigment epithelium (RPE) atrophy and that atrophy can undergo an evolution of different stages, 4 terms and histologic candidates were proposed: complete RPE and outer retinal atrophy (cRORA), incomplete RPE and outer retinal atrophy, complete outer retinal atrophy, and incomplete outer retinal atrophy. Specific OCT criteria to diagnose cRORA were proposed: (1) a region of hypertransmission of at least 250 μm in diameter, (2) a zone of attenuation or disruption of the RPE of at least 250 μm in diameter, (3) evidence of overlying photoreceptor degeneration, and (4) absence of scrolled RPE or other signs of an RPE tear. A classification system and criteria for OCT-defined atrophy in the setting of AMD has been proposed based on an international consensus. This classification is a more complete

  6. Congenital vascular anomalies: current perspectives on diagnosis, classification, and management

    Directory of Open Access Journals (Sweden)

    Blei F

    2016-07-01

    Full Text Available Francine Blei,1 Mark E Bittman2 1Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, 2Department of Radiology, New York University Langone Medical Center, New York, NY, USA Abstract: The term "congenital vascular anomalies" encompasses those vascular lesions present at birth. Many of these lesions may be detected in utero. This review serves to apprise the readership of newly identified diagnoses and updated classification schemes. Attention is focused on clinical features, patterns of presentation, clinical manifestations and behavior, diagnostic tools, and treatment modalities. It is an invigorating period for this field, with a surge in vascular anomalies-related basic and clinical research, genetics, pharmacology, clinical trials, and patient advocacy. A large number of professional conferences now include vascular anomalies in the agenda, and trainees in multiple specialties are gaining expertise in this discipline. We begin with a summary of classification schemes and introduce the updated classification adopted by the International Society for the Study of Vascular Anomalies. Disease entities are described, with liberal use of photographs, as many diagnoses can be established based on a thorough history and visual appearance and it is thus essential to develop a familiarity with diagnosis-specific physical features. Peripheral (non-central nervous system vascular anomalies are the focus of this review. We focus on those entities in which diagnostic radiology is routinely used and accentuate when histologic confirmation is essential. We also underscore some differences in approach to the pediatric vs adolescent or adult patient. A list of Internet-based resources is included, with hyperlinks to informative sites. References are limited to seminal discoveries and review articles. We hope that our enthusiasm in writing this review will be shared by those who read this review. Keywords: vascular anomalies, hemangiomas, vascular

  7. Evaluating Alzheimer's disease progression using rate of regional hippocampal atrophy.

    Directory of Open Access Journals (Sweden)

    Edit Frankó

    Full Text Available Alzheimer's disease (AD is characterized by neurofibrillary tangle and neuropil thread deposition, which ultimately results in neuronal loss. A large number of magnetic resonance imaging studies have reported a smaller hippocampus in AD patients as compared to healthy elderlies. Even though this difference is often interpreted as atrophy, it is only an indirect measurement. A more direct way of measuring the atrophy is to use repeated MRIs within the same individual. Even though several groups have used this appropriate approach, the pattern of hippocampal atrophy still remains unclear and difficult to relate to underlying pathophysiology. Here, in this longitudinal study, we aimed to map hippocampal atrophy rates in patients with AD, mild cognitive impairment (MCI and elderly controls. Data consisted of two MRI scans for each subject. The symmetric deformation field between the first and the second MRI was computed and mapped onto the three-dimensional hippocampal surface. The pattern of atrophy rate was similar in all three groups, but the rate was significantly higher in patients with AD than in control subjects. We also found higher atrophy rates in progressive MCI patients as compared to stable MCI, particularly in the antero-lateral portion of the right hippocampus. Importantly, the regions showing the highest atrophy rate correspond to those that were described to have the highest burden of tau deposition. Our results show that local hippocampal atrophy rate is a reliable biomarker of disease stage and progression and could also be considered as a method to objectively evaluate treatment effects.

  8. Agreement between endoscopic and histological gastric atrophy scores

    NARCIS (Netherlands)

    Liu, Yi; Uemura, Naomi; Xiao, Shu-Dong; Tytgat, Guido N. J.; Kate, Fiebo J. W. Ten

    2005-01-01

    Background. This study was conducted to investigate the strength of agreement between the endoscopic atrophic border (EAB) and the histological score for atrophy. Methods. A series of 298 dyspeptic Japanese patients underwent upper endoscopy. The grade of gastric atrophy was estimated according to

  9. Detection of muscle atrophy on routine sonography of the shoulder.

    Science.gov (United States)

    Sofka, Carolyn M; Haddad, Ziyad K; Adler, Ronald S

    2004-08-01

    To describe the utility of sonography in visualizing muscle atrophy during routine sonographic examination of the shoulder for evaluation of the rotator cuff tendons. A retrospective review of 199 shoulder sonographic examinations performed by 2 musculoskeletal radiologists trained in musculoskeletal sonography with knowledge of the typical sonographic findings of muscle atrophy was performed. Reports were reviewed for the presence of muscle atrophy. If atrophy was present, the reports from those examinations were rereviewed for concomitant rotator cuff abnormalities. Forty-five examinations (23%) showed atrophy in at least 1 muscle on the basis of the criteria of increased echogenicity and decreased bulk. There were a total of 81 individual muscles that showed atrophy, with the following distribution: 16% supraspinatus (n = 13), 31% infraspinatus (n = 25), 36% teres minor (n = 29), 2% subscapularis (n = 2), and 6% biceps brachii (n = 5). In 34 of the 45 examinations with muscle atrophy, there were 57 concomitant full-thickness tendon tears: 64% supraspinatus (n = 29), 38% infraspinatus (n = 17), 7% subscapularis (n = 3), 0% teres minor (n = 0), 16% long head of biceps (n = 7), and 2% deltoid (n = 1). Although primary sonographic evaluation of the painful shoulder concentrates on the tendons of the rotator cuff, we suggest that examination of the muscles should become a standard component of the comprehensive shoulder sonographic examination, particularly given the potential clinical implications of muscle atrophy on the outcome of rotator cuff surgery.

  10. MRI study of degenerative process in multiple system atrophy

    International Nuclear Information System (INIS)

    Yagishita, Toshiyuki; Kojima, Shigeyuki; Hirayama, Keizo

    1995-01-01

    The characteristic morphological changes of the brainstem and cerebellar regions of multiple system atrophy (MSA) were studied by MRI in varing subtypes, that is olivoponto cerebellar atrophy (OPCA: 23 cases), striatonigral degeneration (SND: 7 cases) and Shy-Drager's syndrome (SDS: 9 cases). OPCA was characterized by atrophy of the entire regions of the brainstem and the cerebellum. SND and SDS tended to show atrophy similar in type but lessin extent to OPCA. The common lesions in MSA were atrophy of the pontine base and cerebellum, and dilation of the fourth ventricle. Atrophy of the pontine base was more dominant in the inferior part than in the superior part, and cerebellar atrophy was more dominant in the superior part than in the inferior part, indicating that degeneration of the pontocerebellar pathway proceeds principally along fibers connecting the inferior part of the pons and the superior part of the cerebellum. Dilation of the fourth ventricle indicated atrophy of the middle cerebellar peduncle. In almost all the cases of OPCA and about a half the cases of SND and SDS, the pontine base and the middle cerebellar peduncle appeared as high signal intensity on T 2 weighted image and as low intensity on T 1 , suggesting degeneration and demyelination. In a few cases of OPCA, the dorsolateral part of the putamen were demonstrated as low signal intensity on T 2 weighted image. (author)

  11. MRI study of degenerative process in multiple system atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Yagishita, Toshiyuki; Kojima, Shigeyuki; Hirayama, Keizo [Chiba Univ. (Japan). School of Medicine

    1995-02-01

    The characteristic morphological changes of the brainstem and cerebellar regions of multiple system atrophy (MSA) were studied by MRI in varing subtypes, that is olivoponto cerebellar atrophy (OPCA: 23 cases), striatonigral degeneration (SND: 7 cases) and Shy-Drager`s syndrome (SDS: 9 cases). OPCA was characterized by atrophy of the entire regions of the brainstem and the cerebellum. SND and SDS tended to show atrophy similar in type but lessin extent to OPCA. The common lesions in MSA were atrophy of the pontine base and cerebellum, and dilation of the fourth ventricle. Atrophy of the pontine base was more dominant in the inferior part than in the superior part, and cerebellar atrophy was more dominant in the superior part than in the inferior part, indicating that degeneration of the pontocerebellar pathway proceeds principally along fibers connecting the inferior part of the pons and the superior part of the cerebellum. Dilation of the fourth ventricle indicated atrophy of the middle cerebellar peduncle. In almost all the cases of OPCA and about a half the cases of SND and SDS, the pontine base and the middle cerebellar peduncle appeared as high signal intensity on T{sub 2} weighted image and as low intensity on T{sub 1}, suggesting degeneration and demyelination. In a few cases of OPCA, the dorsolateral part of the putamen were demonstrated as low signal intensity on T{sub 2} weighted image. (author).

  12. Corpus callosum atrophy in patients with mild Alzheimer's disease

    DEFF Research Database (Denmark)

    Frederiksen, Kristian Steen; Garde, Ellen; Skimminge, Arnold

    2011-01-01

    Several studies have found atrophy of the corpus callosum (CC) in patients with Alzheimer's disease (AD). However, it remains unclear whether callosal atrophy is already present in the early stages of AD, and to what extent it may be associated with other structural changes in the brain......, such as age-related white matter changes (ARWMC) and progression of the disease....

  13. Gynecologic anatomic abnormalities following anorectal malformations repair.

    Science.gov (United States)

    Vilanova-Sanchez, Alejandra; Reck, Carlos A; McCracken, Kate A; Lane, Victoria A; Gasior, Alessandra C; Wood, Richard J; Levitt, Marc A; Hewitt, Geri D

    2018-04-01

    Patients may present with gynecologic concerns after previous posterior sagittal anorectoplasty (PSARP) for repair of an anorectal malformation (ARM). Common findings include an inadequate or shortened perineal body, as well as introital stenosis, retained vaginal septum, and remnant rectovestibular fistula. An inadequate or shortened perineal body may impact fecal continence, sexual function and recommendations regarding obstetrical mode of delivery. We describe our experience with female patients referred to our center for evaluation of their previously repaired ARM, with a specific focus on perineal body anatomy and concomitant gynecologic abnormalities. We outline our collaborative evaluation process and findings as well as subsequent repair and outcomes. A single site retrospective chart review from May 2014 to May 2016 was performed. Female patients with a history of prior ARM repair who required subsequent reoperative surgical repair with perineoplasty were included. The decision for reoperation was made collaboratively after a multidisciplinary evaluation by colorectal surgery, urology, and gynecology which included examination under anesthesia (EUA) with cystoscopy, vaginoscopy, rectal examination, and electrical stimulation of anal sphincters. The type of original malformation, indication for reoperative perineoplasty, findings leading to additional procedures performed at time of perineoplasty, postoperative complications, and the length of follow up were recorded. During the study period 28 patients were referred for evaluation after primary ARM repair elsewhere and 15 patients (60%) met inclusion criteria. Thirteen patients (86.6%) originally had a rectovestibular fistula with prior PSARP and 2 patients (13.4%) originally had a cloacal malformation with prior posterior sagittal anorectovaginourethroplasty. The mean age at the time of the subsequent perineoplasty was 4.6years (0.5-12). Patients had an inadequate perineal body requiring reoperative

  14. Fibrosis, low vascularity, and fewer slow fibers after rotator-cuff injury.

    Science.gov (United States)

    Gigliotti, Deanna; Xu, Mark C; Davidson, Michael J; Macdonald, Peter B; Leiter, Jeff R S; Anderson, Judy E

    2017-05-01

    Rotator-cuff injury (RCI) represents 50% of shoulder injuries, and prevalence increases with age. Even with successful tendon repair, muscle and joint function may not return. To explore the dysfunction, supraspinatus and ipsilateral deltoid (control) muscles were biopsied during arthroscopic RCI repair for pair-wise histological and protein-expression studies. Supraspinatus showed fiber atrophy (P atrophy from mechanical unloading of supraspinatus after tendon tear. Treatment to promote growth and vascularity in atrophic supraspinatus muscle may help improve functional outcome after surgical repair. Muscle Nerve 55: 715-726, 2017. © 2016 Wiley Periodicals, Inc.

  15. Deformation-Based Atrophy Estimation for Alzheimer’s Disease

    DEFF Research Database (Denmark)

    Pai, Akshay Sadananda Uppinakudru

    Alzheimer’s disease (AD) - the most common form of dementia, is a term used for accelerated memory loss and cognitive abilities enough to severely hamper day-to-day activities. One of the most globally accepted markers for AD is atrophy, in mainly the brain parenchyma. The goal of the PhD project...... is to develop a deformation-based atrophy estimation pipeline that is reliable and stable. We investigate the application of image registration using freeform deformation and stationary velocity fields in atrophy estimation. In the process, we propose a new multi-scale model for the transformation model...... and a new way to estimate atrophy from a deformation field. We demonstrate the performance of the proposed solution but applying it on the publicly available Alzheimer’s disease neuroimaging data (ADNI) initiative and compare to existing state-of-art atrophy estimation methods....

  16. CT findings of brain atrophy after chemotherapy in acute leukemia

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Jun; Park, Seog Hee; Kim, Choon Yul; Bahk, Yong Whee [Catholic University Medicine College, Seoul (Korea, Republic of)

    1988-10-15

    A study was performed to evaluate the atrophic changes of the central nerve system after chemotherapy in the patients with acute leukemia. The computed tomographic findings and medical records of 20 proven acute leukemia patients under 35 years-old who developed various CNS symptoms and signs during and/or after 2 courses of chemotherapy were reviewed. The results were as follows: 1. Age distribution was from 14 to 5 years (mean was 26 years). Male was 15. 2. Presenting clinical symptoms and signs were headache (16/20), nausea and vomiting (11/20) and loss of consciousness (5/20). 3. Brain atrophy was noted in 16 patients including cortical and subcortical atrophy 15 cases and subcortical atrophy 1 case. 4. Two cases of hemorrhage, one each of intracranial hematoma and chronic subdural hematoma were found in addition to brain atrophy. This showed that chemotherapeutic agents cause brain atrophy in a considerable number of the patients with symptomatic acute leukemia.

  17. Computed tomographic angiography: An alternative to catheter-angiography in the evaluation of a scalp arterio-venous malformation

    Directory of Open Access Journals (Sweden)

    Anas Ismail

    2014-01-01

    Full Text Available Arterio-venous malformation (AVM is an uncommon abnormality, characterized by abnormally dilated pathologic vessels resulting in shunting of blood from arteries to veins without intermediary capillaries. The management of AVM is challenging because of high shunt flow and complex vascular anatomy. A 28-year-old female patient presented with a pulsatile occipital swelling. Sonographic findings of the AVM were confirmed on computed tomographic angiography, showing dilated, and tortuous vessels in the occipital region with feeders from the vertebral arteries and the right external carotid, which drained to the right internal jugular vein. She was treated by ligating the feeders.

  18. A case of Multiple Unilateral Pulmonary arteriovenous Malformation Relapse: Efficacy of embolization treatment

    Directory of Open Access Journals (Sweden)

    Masiello Rossella

    2015-01-01

    Full Text Available Pulmonary arteriovenous Malformations (PAVMs are a rare vascular alteration characterized by abnormal communications between the pulmonary arteries and veins resulting in an extracardiac right-to-left (R-L shunt. The majority of PAVMs are associated with an autosomal dominant vascular disorder also known as Osler-Weber- Rendu Syndrome. PAVMs appearance can be both single and multiple. Clinical manifestations include hypoxemia, dyspnea cyanosis, hemoptysis and cerebrovascular ischemic events or abscesses. We report a case of an 18 year old female with severe respiratory failure caused by a relapse of multiple unilateral pulmonary arterovenous fistula. Symptoms at admission include dyspnea, cyanosis and clubbing. The patient underwent pulmonary angio-TC scan, brain CT and echocardiography. The thoracic angio-CT scan showed the presence of PAVMs of RUL and RLL; a marked increase of right bronchial artery caliber and its branches with an aneurismatic dilatation was also observed. The patient underwent percutaneous transcatheter embolization using Amplatzer Vascular Plug IV; a relevant clinical and functional improvement was subsequently recorded. Embolization is effective in the treatment of relapsing PAVMS.

  19. Management of patients with brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Soederman, Michael; Andersson, Tommy; Karlsson, Bengt; Wallace, M. Christopher; Edner, Goeran

    2003-01-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms--fixed or unstable--such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably 10 ml could benefit from targeted partial embolisation followed by radiosurgery or surgery, depending on the angioarchitecture; and (IV) AVMs >20 ml nidus volume usually have a high treatment risk with any treatment modality and are not obvious targets for treatment at all

  20. Symptomatic Chiari malformation in infancy and adolescence

    International Nuclear Information System (INIS)

    Fukushima, Takeo; Matsuda, Toshihiro; Tsugu, Hitoshi; Sakamoto, Seisaburou; Tomonaga, Masamichi; Asakawa, Koji; Mitsudome, Akihisa; Hashimoto, Takahisa.

    1994-01-01

    Of the 7 children and adolescents with Chiari malformation reported here 5 had Chiari type 1 and 2 had Chiari type 2 disease. All 5 Chiari type 1 patients had syringomyelia and scoliosis, but the Chiari type 2 patients did not. All the patients except one with localized syringomyelia (case 3) underwent posterior decompression with suboccipital craniectomy, upper cervical laminectomy and duraplasty, and their clinical signs and symptoms improved. Case 3 received a syringo-subarachnoid shunt and improved clinically. Motor function was restored better than sensory function. Cranial nerve signs were cleared up in the Chiari type 2 patients. In the Chiari type 1 patients postoperative neurological improvement correlated well with the collapse of syringomyelia. Cine MR imaging was useful in the evaluation of CSF dynamics at the cranio-vertebral junction and in the syringomyelic cavity before and after surgery. (author)

  1. PET in malformations of cortical development

    International Nuclear Information System (INIS)

    Bouilleret, V.; O'Brien, T.J.; Bouilleret, V.; Bouilleret, V.; Chiron, C.; Chiron, C.

    2009-01-01

    Within the group of malformations of cortical development, focal cortical dysplasia (FCD) are an increasingly recognized cause of intractable epilepsy that can be cured by surgery. The success of cortical resection for intractable epilepsy is highly dependent on the accurate pre-surgical delineation of the regions responsible for generating seizures. [ 18 F]-FDG PET, which images cerebral metabolism studying brain glucose uptake, is the most established functional imaging modality in the evaluation of patients with epilepsy. The aim of this article is to review [ 18 F]-FDG PET usefulness as a pre-surgical tool in the evaluation of medically refractory partial epilepsy. It has an established place in assisting in the localisation and definition of FCD in patients with no lesion, or only a subtle abnormality, on MRI. The role of FDG-PET in defining the extent of the surgical resection is still uncertain and needs to be the focus of future research. (authors)

  2. Cerebral arteriovenous malformations: comparison of novel magnetic resonance angiographic techniques and conventional catheter angiography.

    Science.gov (United States)

    Warren, Daniel James; Hoggard, Nigel; Walton, Lee; Radatz, Matthias Walter Richard; Kemeny, Andras A; Forster, David Martin Campbell; Wilkinson, Iain David; Griffiths, Paul David

    2007-07-01

    To investigate the potential of novel magnetic resonance (MR) angiographic techniques for the assessment of cerebral arteriovenous malformations. Forty patients who were about to undergo stereotactic radiosurgery were prospectively recruited. Three-dimensional, sliding-slab interleaved ky (SLINKY), time-of-flight acquisition was performed, as was a dynamic MR digital subtraction angiography (DSA) procedure in which single thick slices (6-10 cm) were obtained using a radiofrequency spoiled Fourier-acquired steady-state sequence (1 image/s). Sixty images were acquired, in two or three projections, during passage of a 6- to 10-ml bolus of gadolinium chelate. Subtraction and postprocessing were performed, and images were viewed in an inverted cine mode. SLINKY time-of-flight acquisition was repeated after the administration of gadolinium. Routine stereotactic conventional catheter angiography was performed after MR imaging. All images were assessed (in a blinded randomized manner) for Spetzler-Martin grading and determination of associated vascular pathological features. Forty-one arteriovenous malformations were assessed in 40 patients. Contrast-enhanced (CE) SLINKY MR angiography was the most consistent MR imaging technique, yielding a 95% correlation with the Spetzler-Martin classification defined by conventional catheter angiography; MR DSA exhibited 90% agreement, and SLINKY MR angiography exhibited 81% agreement. CE SLINKY MR angiography provided improved nidus delineation, compared with non-CE SLINKY MR angiography. Dynamic information from MR DSA significantly improved the observation of early-draining veins and associated aneurysms. CE SLINKY MR angiographic assessment of cerebral arteriovenous malformations offers significant advantages, compared with the use of non-CE SLINKY MR angiography, including improved nidus demonstration. MR DSA shows promise as a noninvasive method for dynamic angiography but is presently restricted by limitations in both temporal

  3. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, R.A. [Univ. of Toronto, St. Michael' s Hospital, Dept. of Medical Imaging, Toronto, Ontario (Canada)

    2001-04-01

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized

  4. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    International Nuclear Information System (INIS)

    Pugash, R.A.

    2001-01-01

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized with increasing

  5. Posterior cerebral atrophy in the absence of medial temporal lobe atrophy in pathologically-confirmed Alzheimer's disease

    NARCIS (Netherlands)

    Lehmann, M.; Koedam, E.L.G.E.; Barnes, J.; Bartlett, J.W.; Ryan, N.S.; Pijnenburg, Y.A.L.; Barkhof, F.; Wattjes, M.P.; Scheltens, P.; Fox, N.C.

    2012-01-01

    Medial temporal lobe atrophy (MTA) is a recognized marker of Alzheimer's disease (AD), however, it can be prominent in frontotemporal lobar degeneration (FTLD). There is an increasing awareness that posterior atrophy (PA) is important in AD and may aid the differentiation of AD from FTLD. Visual

  6. Presence of vascular anomalies with congenital hemihypertrophy and Wilms tumor: an evidence-based evaluation.

    Science.gov (United States)

    Kundu, Roopal V; Frieden, Ilona J

    2003-01-01

    Congenital hemihypertrophy is an uncommon condition of unknown etiology characterized by unilateral overgrowth of part or all of one side of the body. Hemihypertrophy is known to be associated with certain childhood tumors, most notably Wilms tumor (or nephroblastoma), and for this reason infants with hemihypertrophy are often followed with serial abdominal ultrasounds. Klippel-Trénaunay syndrome (KTS) is the triad of port-wine stain, venous varicosities, and soft tissue and/or bony hypertrophy. Children with KTS typically have localized rather than generalized hemihypertrophy, but occasionally the hypertrophy is more extensive than the vascular anomaly itself. Information is lacking about whether hemihypertrophy in this setting can also be a risk factor for Wilms tumor. We systematically reviewed the medical literature to determine whether well-documented cases of Wilms tumor in the setting of both hemihypertrophy and vascular anomalies have been described, and if found, whether the association was sufficiently frequent that routine screening for Wilms tumor in this setting should be recommended. A review of case reports and case series in the pediatric population was undertaken using specific inclusion and exclusion criteria. We found 4 of 58 subjects with hemihypertrophy and Wilms tumor had a reported vascular anomaly, but in only one case was a clear-cut diagnosis of KTS confirmed. The relationship of the other three vascular anomalies reported was of uncertain significance. In conclusion, our review suggests that the risk of Wilms tumor in the setting of localized soft-tissue hypertrophy in conjunction with a vascular malformation is quite low. More extensive hemihypertrophy extending to body sites remote from the vascular malformation itself could have a higher risk of Wilms tumor, although the magnitude of this risk is uncertain. Our findings suggest that routine serial abdominal ultrasounds in patients with vascular malformations in association with

  7. [Mortality due to congenital malformations in Chile (1969-1997)].

    Science.gov (United States)

    Bedregal, P; Orfali, C; Norero, E; Vercellino, M

    2000-04-01

    Congenital malformations are defined as those structural, metabolic or functional defects found at birth. To study the mortality due to congenital malformations in Chile between 1969 and 1997, their type, individual, temporal and geographic variations. A descriptive analysis of deaths registered by the National Statistics Institute and the Ministry of Health. Means, frequencies, raw and adjusted rates were calculated and inferences for some variables were carried out. Between 1969 and 1997 ther was tendency towards a reduction in rates of mortality due to congenital malformations and an increment in their relative importance. During the period, the risk for chromosome (98%) and osteomuscular (67%) malformations increased. Men and children of less than one year had the higher risk. In 1995, 1167 deaths due to congenital malformations were registered, 90% in children of less than 5 years. Higher risks occurred in urban zones (with a rate of 8.25 per 100,000) in the third region (rate 11.59) and second region (rate 11.2). Most deaths occurred in hospitals (85%). Main causes of death were circulatory system, central nervous system and chromosome malformations. The differences in regional deaths due to congenital malformations suggests specific risks that deserve further study.

  8. Diagnostic imaging and cataloguing of female genital malformations

    Directory of Open Access Journals (Sweden)

    Pedro Acién

    2016-08-01

    Full Text Available Abstract To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment. Diagnostic imaging of the different genito-urinary anomalies are exposed, placing particular emphasis on the anomalies within group II of the embryological and clinical classification (distal mesonephric anomalies, all of them associated with unilateral renal agenesis or dysplasia. Similarly, emphasis is placed on cases of cervico-vaginal agenesis, cavitated noncommunicated uterine horns, and cloacal and urogenital sinus anomalies and malformative combinations, all of them complex malformations. Diagnostic imaging for all these anomalies is essential. The best imaging tools and when to evaluate for other anomalies are also analysed in this review. Teaching points • The appropriate cataloguing of female genital malformations is controversial. • An embryological classification system suggests the best diagnosis and appropriate management. • The anomalies most frequently diagnosed incorrectly are the distal mesonephric anomalies (DMAs. • DMAs are associated with unilateral renal agenesis or renal dysplasia with ectopic ureter. • We analyse other complex malformations. Diagnostic imaging for these anomalies is essential.

  9. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and regis......OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010...... and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized...... estimating equation for binary outcomes, with adjustment for potential confounders. MAIN OUTCOME MEASURES: Groups of congenital malformations. RESULTS: Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i...

  10. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  11. Assessing atrophy measurement techniques in dementia: Results from the MIRIAD atrophy challenge

    Science.gov (United States)

    Cash, David M.; Frost, Chris; Iheme, Leonardo O.; Ünay, Devrim; Kandemir, Melek; Fripp, Jurgen; Salvado, Olivier; Bourgeat, Pierrick; Reuter, Martin; Fischl, Bruce; Lorenzi, Marco; Frisoni, Giovanni B.; Pennec, Xavier; Pierson, Ronald K.; Gunter, Jeffrey L.; Senjem, Matthew L.; Jack, Clifford R.; Guizard, Nicolas; Fonov, Vladimir S.; Collins, D. Louis; Modat, Marc; Cardoso, M. Jorge; Leung, Kelvin K.; Wang, Hongzhi; Das, Sandhitsu R.; Yushkevich, Paul A.; Malone, Ian B.; Fox, Nick C.; Schott, Jonathan M.; Ourselin, Sebastien

    2015-01-01

    Structural MRI is widely used for investigating brain atrophy in many neurodegenerative disorders, with several research groups developing and publishing techniques to provide quantitative assessments of this longitudinal change. Often techniques are compared through computation of required sample size estimates for future clinical trials. However interpretation of such comparisons is rendered complex because, despite using the same publicly available cohorts, the various techniques have been assessed with different data exclusions and different statistical analysis models. We created the MIRIAD atrophy challenge in order to test various capabilities of atrophy measurement techniques. The data consisted of 69 subjects (46 Alzheimer's disease, 23 control) who were scanned multiple (up to twelve) times at nine visits over a follow-up period of one to two years, resulting in 708 total image sets. Nine participating groups from 6 countries completed the challenge by providing volumetric measurements of key structures (whole brain, lateral ventricle, left and right hippocampi) for each dataset and atrophy measurements of these structures for each time point pair (both forward and backward) of a given subject. From these results, we formally compared techniques using exactly the same dataset. First, we assessed the repeatability of each technique using rates obtained from short intervals where no measurable atrophy is expected. For those measures that provided direct measures of atrophy between pairs of images, we also assessed symmetry and transitivity. Then, we performed a statistical analysis in a consistent manner using linear mixed effect models. The models, one for repeated measures of volume made at multiple time-points and a second for repeated “direct” measures of change in brain volume, appropriately allowed for the correlation between measures made on the same subject and were shown to fit the data well. From these models, we obtained estimates of the

  12. Contribution of rare copy number variants to isolated human malformations.

    Directory of Open Access Journals (Sweden)

    Clara Serra-Juhé

    Full Text Available BACKGROUND: Congenital malformations are present in approximately 2-3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. METHODOLOGY/PRINCIPAL FINDINGS: We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations. Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46% or from lung or liver (54% was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV [>100 kb, either absent (n = 7 or very uncommon (n = 15, <1/2,000 in the control population] in 20/95 fetuses with congenital malformations (21%, including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%, with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. CONCLUSIONS/SIGNIFICANCE: Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.

  13. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

    Directory of Open Access Journals (Sweden)

    Millino Caterina

    2009-04-01

    Full Text Available Abstract Background Spinal muscular atrophy (SMA is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons. SMN has a role in neurons but its deficiency may have a direct effect on muscle tissue. Methods We applied microarray and quantitative real-time PCR to study at transcriptional level the effects of a defective SMN gene in skeletal muscles affected by the two forms of SMA: the most severe type I and the mild type III. Results The two forms of SMA generated distinct expression signatures: the SMA III muscle transcriptome is close to that found under normal conditions, whereas in SMA I there is strong alteration of gene expression. Genes implicated in signal transduction were up-regulated in SMA III whereas those of energy metabolism and muscle contraction were consistently down-regulated in SMA I. The expression pattern of gene networks involved in atrophy signaling was completed by qRT-PCR, showing that specific pathways are involved, namely IGF/PI3K/Akt, TNF-α/p38 MAPK and Ras/ERK pathways. Conclusion Our study suggests a different picture of atrophy pathways in each of the two forms of SMA. In particular, p38 may be the regulator of protein synthesis in SMA I. The SMA III profile appears as the result of the concurrent presence of atrophic and hypertrophic fibers. This more favorable condition might be due to the over-expression of MTOR that, given its role in the activation of protein synthesis, could lead to compensatory hypertrophy in SMA III muscle fibers.

  14. Trigeminal Neuralgia Caused by Cerebellopontine Angle Arteriovenous Malformation Treated With Gamma Knife Radiosurgery.

    Science.gov (United States)

    Işik, Semra; Ekşi, Murat Şakir; Yilmaz, Baran; Toktaş, Zafer Orkun; Akakin, Akin; Kiliç, Türker

    2016-01-01

    Trigeminal neuralgia is a facial pain syndrome characterized as sudden onset and lightening-like sensation over somatosensorial branch(es) of fifth cranial nerve. Rarely, some underlying diseases or disorders could be diagnosed, such as multiple sclerosis, brain tumors, and vascular malformations. The authors present a 47-year-old man with trigeminal neuralgia over left V2 and V3 dermatomes. He had a previous transarterial embolization and long use of carbamazepine with partial response to treatment. Gamma knife radiosurgery (GKR) was planned. A marginal dose of 15 Gy was given to 50% isodose line. His pain was relieved by GKR in 1.5 years. Treatment of posterior fossa arteriovenous malformations causing trigeminal neuralgia, with GKR has a very limited use in the literature. It, however, is obvious that success rate as pain relief, in a very challenging field of functional neurosurgery, is satisfactory. Large series, however, are in need to make a more comprehensive statement about efficacy and safety of the procedure in these pathologies.

  15. Synergistic effect of lidocaine with pingyangmycin for treatment of venous malformation using a mouse spleen model

    Science.gov (United States)

    Bai, Nan; Chen, Yuan-Zheng; Mao, Kai-Ping; Fu, Yanjie; Lin, Qiang; Xue, Yan

    2014-01-01

    Aims: To explore whether lidocaine has the synergistic effect with pingyangmycin (PYM) in the venous malformations (VMs) treatment. Methods: The mouse spleen was chosen as a VM model and injected with different concentration of lidocaine or PYM or jointly treated with lidocaine and PYM. After 2, 5, 8 or 14 days, the mouse spleen tissues were acquired for hematoxylin-eosin (HE) staining, transmission electron microscopy (TEM) analysis, TUNEL assay and quantitative RT-PCR analysis to examine the toxicological effects of lidocaine and PYM on splenic vascular endothelial cells. Results: 0.4% of lidocaine mildly promoted the apoptosis of endothelial cells, while 2 mg/ml PYM significantly elevated the apoptotic ratios. However, the combination of 0.2% lidocaine and 0.5 mg/ml PYM notably elevated the apoptotic ratios of splenic cells and severely destroyed the configuration of spleen, compared to those of treatment with 0.5 mg/ml PYM alone. Conclusion: Lidocaine exerts synergistic effects with PYM in promoting the apoptosis of mouse splenic endothelial cells, indicating that lidocaine possibly promotes the therapeutic effects of PYM in VMs treatment via synergistically enhancing the apoptosis of endothelial cells of malformed venous lesions. PMID:24966943

  16. Choroidal Round Hyporeflectivities in Geographic Atrophy.

    Directory of Open Access Journals (Sweden)

    Eleonora Corbelli

    Full Text Available In geographic atrophy (GA, choroidal vessels typically appear on structural optical coherence tomography (OCT as hyperreflective round areas with highly reflective borders. We observed that some GA eyes show choroidal round hyporeflectivities with highly reflective borders beneath the atrophy, and futher investigated the charcteristcs by comparing structural OCT, indocyanine green angiography (ICGA and OCT angiography (OCT-A.Round hyporeflectivities were individuated from a pool of patients with GA secondary to non-neovascular age-related macular degeneration consecutively presenting between October 2015 and March 2016 at the Medical Retina & Imaging Unit of the University Vita-Salute San Raffaele. Patients underwent a complete ophthalmologic examination including ICGA, structural OCT and OCT-A. The correspondence between choroidal round hyporeflectivities beneath GA on structural OCT and ICGA and OCT-A imaging were analyzed.Fifty eyes of 26 consecutive patients (17 females and 9 males; mean age 76.8±6.2 years with GA were included. Twenty-nine round hyporeflectivities have been found by OCT in choroidal layers in 21 eyes of 21 patients (42.0%; estimated prevalence of 57.7%. All 29 round hyporeflectivities showed constantly a hyperreflective border and a backscattering on structural OCT, and appeared as hypofluorescent in late phase ICGA and as dark foci with non detectable flow in the choroidal segmentation of OCT-A. Interestingly, the GA area was greater in eyes with compared to eyes without round hyporeflectivities (9.30±5.74 and 5.57±4.48mm2, respectively; p = 0.01.Our results suggest that most round hyporeflectivities beneath GA may represent non-perfused or hypo-perfused choroidal vessels with non-detectable flow.

  17. Choroidal Round Hyporeflectivities in Geographic Atrophy.

    Science.gov (United States)

    Corbelli, Eleonora; Sacconi, Riccardo; De Vitis, Luigi Antonio; Carnevali, Adriano; Rabiolo, Alessandro; Querques, Lea; Bandello, Francesco; Querques, Giuseppe

    2016-01-01

    In geographic atrophy (GA), choroidal vessels typically appear on structural optical coherence tomography (OCT) as hyperreflective round areas with highly reflective borders. We observed that some GA eyes show choroidal round hyporeflectivities with highly reflective borders beneath the atrophy, and futher investigated the charcteristcs by comparing structural OCT, indocyanine green angiography (ICGA) and OCT angiography (OCT-A). Round hyporeflectivities were individuated from a pool of patients with GA secondary to non-neovascular age-related macular degeneration consecutively presenting between October 2015 and March 2016 at the Medical Retina & Imaging Unit of the University Vita-Salute San Raffaele. Patients underwent a complete ophthalmologic examination including ICGA, structural OCT and OCT-A. The correspondence between choroidal round hyporeflectivities beneath GA on structural OCT and ICGA and OCT-A imaging were analyzed. Fifty eyes of 26 consecutive patients (17 females and 9 males; mean age 76.8±6.2 years) with GA were included. Twenty-nine round hyporeflectivities have been found by OCT in choroidal layers in 21 eyes of 21 patients (42.0%; estimated prevalence of 57.7%). All 29 round hyporeflectivities showed constantly a hyperreflective border and a backscattering on structural OCT, and appeared as hypofluorescent in late phase ICGA and as dark foci with non detectable flow in the choroidal segmentation of OCT-A. Interestingly, the GA area was greater in eyes with compared to eyes without round hyporeflectivities (9.30±5.74 and 5.57±4.48mm2, respectively; p = 0.01). Our results suggest that most round hyporeflectivities beneath GA may represent non-perfused or hypo-perfused choroidal vessels with non-detectable flow.

  18. Surgical experience with arteriovenous malformations of the brain

    International Nuclear Information System (INIS)

    Stein, B.M.

    1984-01-01

    Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

  19. About kinetics of paramagnetic radiation malformations in beryllium ceramics

    International Nuclear Information System (INIS)

    Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

    1999-01-01

    This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

  20. A genetic model for cloacal exstrophy, the extreme cloacal malformation.

    Science.gov (United States)

    Robin, Nathaniel H; Sathienkijkanchai, Achara; Herndon, C D Anthony

    2007-06-01

    Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Limb anomalies are also seen with CE. Unlike the OEIS complex, limb anomalies occur as independent malformations. Here, we present two cases of CE with limb anomalies that are consistent with the phenotype seen in Disorganization (Ds), an unusual human malformation syndrome. From reviewing the mouse model, it may be that the Ds gene is a candidate for isolated CE as well.

  1. MR imaging evaluation of congenital malformation of the spine

    International Nuclear Information System (INIS)

    Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

    1988-01-01

    One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

  2. Evaluation of magnetic resonance imaging of Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Yoshino, Kimihiro; Suga, Masakazu; Takemoto, Motohisa

    1987-06-01

    We evaluated the usefulness of magnetic resonance imaging (MRI) in the diagnosis of the Arnold-Chiari malformation. The patient, a 52-year-old man, complained of dizziness on walking. He initially refused to undergone myelography, but 4 months later, underwent MRI test, which lead to the diagnosis of Arnold-Chiari malformation (I type). Not all patients with symptoms of Arnold-Chiari malformation, syringomyelia, syringobulbia and cervical spinal tumor, undergone myelography, which is an invasive technique, therefore MRI should be the first examination for the patients with disorders involving the craniocervical junction.

  3. CEREBRAL CAVERNOUS MALFORMATION COEXISTING WITH PITUITARY ADENOMA, HASHIMOTO THYROIDITIS AND MENTAL ILLNESS: FIRST CASE REPORT.

    Directory of Open Access Journals (Sweden)

    Sara Guido

    2017-10-01

    Full Text Available Cerebral Cavernous Malformations (CCMs are vascular lesions involving brain capillaries. They may occur sporadically or be inherited as autosomal dominant character. Due to incomplete penetrance, CCMs incidence is underestimated and, overall sporadic cases, are often accidentally diagnosed. Rarely CCMs are linked to other pathological conditions. Here we present the first case in literature of a young woman affected by sporadic CCM, pituitary adenoma, Hashimoto thyroiditis and mental illness of unknown etiology. Symptoms’ analysis suggests that she may suffer of Hashimoto encephalopathy (HE, a condition that in very few cases develops together with Hashimoto thyroiditis. Genetic bases of HE are still unknown and symptomatology is very heterogeneous. This paper is a preliminary report of the case and is focused on complexity of clinical manifestations that makes the diagnosis uncertain. If our hypothesis will be confirmed by further analysis, our aim will be to clarify genetic causes of HE.

  4. The impact of vascular endothelial growth factor and basic fibroblast growth factor on cardiac fibroblasts grown under altered gravity conditions

    DEFF Research Database (Denmark)

    Ulbrich, Claudia; Leder, Annekatrin; Pietsch, Jessica

    2010-01-01

    Myocardium is very sensitive to gravitational changes. During a spaceflight cardiovascular atrophy paired with rhythm problems and orthostatic intolerance can occur. The aim of this study was to investigate the impact of basic fibroblast growth factor (bFGF) and vascular endothelial growth factor...... (VEGF) on cardiac fibroblasts (CF) grown under altered gravity conditions....

  5. Vascularity in thyroid neoplasms

    DEFF Research Database (Denmark)

    Larsen, Karen Kjaer; Andersen, Niels Frost; Melsen, Flemming

    2006-01-01

    The aim of the present study was to evaluate the reliability of four different methods (vascular grading, Chalkley count, microvessel density (MVD) and stereological estimation) for quantifying intratumoral microvascularity in thyroid neoplasms, by comparing the variability within and between...... count should be the preferred method for assessing microvascularity in thyroid neoplasms. The diagnostic evaluation revealed a tendency towards higher degree of vascularity in FA compared to both FC and PC for all methods. No statistically significant association was seen between vascular density...

  6. Mechanisms of Botulinum Neurotoxin Induced Skeletal Muscle Atrophy

    Science.gov (United States)

    Hain, Brian A.

    Our previous research suggests that the mechanism of botulinum neurotoxintype A (BoNT/A)-induced atrophy does not occur via a NF-kappaB/Foxo-dependent process. We thus hypothesized that the primary mechanism would be activation of either the proteosomal or calpain pathways. BoNT/A injection induced elevations in proteolytic activity markers of the ubiquitin-proteasome-system (UPS) and calpain systems after 3 days of a single dose. Inhibition of the proteasome significantly attenuated BoNT/Ainduced atrophy 3-days post BoNT/A injection. Calpastatin overexpression prevented BoNT/A-induced calpain activity at 3 days, and but did not result in a significant attenuation of atrophy. Concurrent attenuation of the UPS and calpain systems was sufficient to attenuate all of the atrophy associated with BoNT/A induced atrophy. In conclusion, it appears that the UPS and calpain system work in an additive fashion with neurotoxin-induced muscle atrophy. Inhibiting both of these pathways while administering BoNT/A attenuates all of the observed muscle atrophy.

  7. Reviewing the options for local estrogen treatment of vaginal atrophy

    Directory of Open Access Journals (Sweden)

    Lindahl SH

    2014-03-01

    Full Text Available Sarah H Lindahl Sutter East Bay Medical Foundation, SEBMF – Diablo Division, Castro Valley, CA, USA Background: Vaginal atrophy is a chronic condition with symptoms that include vaginal dryness, pain during sex, itching, irritation, burning, and discharge, as well as various urinary problems. Up to 45% of postmenopausal women may be affected, but it often remains underreported and undertreated. This article aims to review the current recommendations for treatment of vaginal atrophy, and current data on the effectiveness and safety of local vaginal estrogen therapies. Methods: Literature regarding vaginal atrophy (2007–2012 was retrieved from PubMed and summarized, with emphasis on data related to the treatment of vaginal atrophy with local vaginal estrogen therapy. Results: Published data support the effectiveness and endometrial safety of low-dose local estrogen therapies. These results further support the general recommendation by the North American Menopause Society that a progestogen is not needed for endometrial protection in patients using low-dose local vaginal estrogen. Benefits of long-term therapy for vaginal atrophy include sustained relief of symptoms as well as physiological improvements (eg, decreased vaginal pH and increased blood flow, epithelial thickness, secretions. Conclusion: Currently available local vaginal estrogen therapies are well tolerated and effective in relieving symptoms of vaginal atrophy. Recent data support the endometrial safety of low-dose regimens for up to 1 year. Keywords: menopause, estrogen, local estrogen therapy, vaginal atrophy

  8. The causes and the nursing interventions of the complications due to repeated embolization therapy for huge cerebral arteriovenous malformations

    International Nuclear Information System (INIS)

    Sun Lingfang; Sun Ge

    2010-01-01

    Objective: To investigate the causes of the complications occurred after repeated embolization therapy for huge cerebral arteriovenous malformations and to discuss their nursing interventions. Methods: A total of 54 embolization procedures were performed in 17 patients with huge cerebral arteriovenous malformations. The clinical data were retrospectively analyzed. The causes of complications were carefully examined and the preventive measures were discussed. The prompt and necessary nursing interventions were formulated in order to prevent the complications or serious consequences. Results: Among the total 17 patients, one patient gave up the treatment because of the cerebral hemorrhage which occurred two months after receiving 3 times of embolization therapy. One patient experienced cerebral vascular spasm during the procedure, which was relieved after antispasmodic medication and no neurological deficit was left behind. Two patients developed transient dizziness and headache, which were alleviated spontaneously. One patient presented with nervousness, fear and irritability, which made him hard to cooperate with the operation and the basis intravenous anesthesia was employed. No complications occurred in the remaining cases. Conclusion: The predictive nursing interventions for the prevention of complications are very important for obtaining a successful repeated embolization therapy for huge cerebral arteriovenous malformations, which will ensure that the patients can get the best treatment and the complications can be avoided. (authors)

  9. Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    Full Text Available Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i a primary defect in the generation of caudal mesoderm, ii a primary vascular defect that leaves the caudal part of the embryo hypoperfused. Interestingly, Sirenomelia has been shown to have a genetic basis in mice, and although it has been considered a sporadic condition in humans, recently some possible familial cases have been reported. Here, we report that the removal of one or both functional alleles of Shh from the Bmp7-null background leads to a sirenomelia phenotype that faithfully replicates the constellation of external and internal malformations, typical of the human condition. These mutants represent an invaluable model in which we have analyzed the pathogenesis of sirenomelia. We show that the signaling defect predominantly impacts the morphogenesis of the hindgut and the development of the caudal end of the dorsal aortas. The deficient formation of ventral midline structures, including the interlimb mesoderm caudal to the umbilicus, leads to the approximation and merging of the hindlimb fields. Our study provides new insights for the understanding of the mechanisms resulting in caudal body malformations, including sirenomelia.

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

    Science.gov (United States)

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

    2017-01-01

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

  11. Arteriovenous malformation of the thyroid gland as a very rare cause of mechanical neck syndrome: a case report.

    Science.gov (United States)

    Černá, Monika; Třeška, Vladislav; Krčma, Michal; Daum, Ondřej; Šlauf, František

    2015-02-02

    Vascular malformations of the thyroid gland represent a very rare, often accidentally diagnosed, disease that in the case of eufunctional goitre may be the cause of mechanical neck syndrome. The authors present here the complex differential-diagnosis and treatment approach and stress the importance of histopathology for determining the final diagnosis. Using various imaging methods (ultrasound, multidetector computed tomography of the neck), the cause of breathing difficulties in a 64-year-old old man from the Czech Republic with normal thyroid gland function was found to be an arteriovenous malformation of the left lobe of his thyroid gland, 80 × 70 × 55 mm in size, reaching retrosternally between the major arteries branching from his aortic arch and displacing his trachea 10mm to the right. In preparation for surgery, he underwent a radio-interventional procedure with embolisation of the arteries supplying the left lobe. This was followed by a lobectomy on the left via a partial sternotomy. The definitive histology result confirmed that the arteriovenous malformation was the benign cause of the mechanical neck syndrome. The case report presented here extends the differential diagnostic options in cases of mechanical neck syndrome. It describes a very rare disease of the thyroid gland, which prior to surgery may arouse suspicion of malignancy. It stresses the importance of close team cooperation between the endocrinologist, interventional radiologist and surgeon within the framework of preoperative diagnosis as well as preparation for surgery. Determination of the definitive histopathological diagnosis requires a pathologist experienced in such issues.

  12. Linear atrophy and vascular fragility following ultrasoundguided triamcinolone injection for DeQuervain tendonitis

    OpenAIRE

    Willardson, Hal B; Buck, Shannon; Neiner, James

    2017-01-01

    A 64 year-old woman presented with a one-yearhistory of purpuric, atrophic, linear patches alongthe left lateral forearm. The patient had receivedtwo ultrasound-guided triamcinolone injectionsone year earlier into her left extensor pollicis brevisand abductor pollicis longus tendon sheathsfor DeQuervain tendonitis. In the seven monthsfollowing the second injection, the patient developedatrophy, purpura, and telangiectasias starting at thesite of injection and extending proximally, followingth...

  13. Prostatic urethra malformation associated with retrograde ejaculation: a case report.

    Science.gov (United States)

    Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

    2016-12-21

    Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

  14. Screening for congenital heart malformation in child health centres

    NARCIS (Netherlands)

    R.E. Juttmann (Rikard); J. Hess (Jakob); C.W.N. Looman (Caspar); G.J. van Oortmarssen (Gerrit); P.J. van der Maas (Paul)

    1998-01-01

    textabstractBACKGROUND: Although screening for congenital heart malformations is part of the child health care programme in several countries, there are very few published evaluations of these activities. This report is concerned with the evaluation of this screening at

  15. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  16. Urinary lithiasis and urinary tract malformations in children: A ...

    African Journals Online (AJOL)

    -pelvic junction obstruction (7 cases) and vesico-ureteric refl ux (8 cases), but its malformative origin could not be confi rmed. Treatment consisted of lithiasis extraction in 32 cases associated with specific treatment of the uropathy in 27 cases.

  17. Anxiety Disorder in a Case of Arnold-Chiari Malformation

    Science.gov (United States)

    Chisholm, B. Terry; Velamoor, R.; Chandarana, P.C.; Cochrane, David K.

    1993-01-01

    This report describes a patient who suffered concurrently from panic disorder with agoraphobia and Arnold-Chiari malformation. Surgical correction of the neuroanatomical anomaly altered the patient's symptom pattern, enabling a more clear delineation of her anxiety disorder. PMID:8461284

  18. Prolonged expiratory apnoea with cyanosis in Arnold Chiari II malformation.

    Science.gov (United States)

    Zafar, Adnan; Hussain, Nahin

    2017-03-01

    Apnoea associated with Arnold Chiari malformation is a known entity and can be obstructive or central. Differentiating between two types is vital to deciding management pathway and prognosticating disease process.

  19. The Chiari malformations: a review with emphasis on anatomical traits.

    Science.gov (United States)

    Cesmebasi, Alper; Loukas, Marios; Hogan, Elizabeth; Kralovic, Sara; Tubbs, R Shane; Cohen-Gadol, Aaron A

    2015-03-01

    Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. © 2014 Wiley Periodicals, Inc.

  20. Brain atrophy in multiple sclerosis: therapeutic, cognitive and clinical impact

    Directory of Open Access Journals (Sweden)

    Juan Ignacio Rojas

    2016-03-01

    Full Text Available ABSTRACT Multiple sclerosis (MS was always considered as a white matter inflammatory disease. Today, there is an important body of evidence that supports the hypothesis that gray matter involvement and the neurodegenerative mechanism are at least partially independent from inflammation. Gray matter atrophy develops faster than white matter atrophy, and predominates in the initial stages of the disease. The neurodegenerative mechanism creates permanent damage and correlates with physical and cognitive disability. In this review we describe the current available evidence regarding brain atrophy and its consequence in MS patients.