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cavernous malformations

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https://www.readbyqxmd.com/read/29145060/familial-cerebral-cavernous-malformation-report-of-a-novel-krit1-mutation-in-a-portuguese-family
#1
Inês Rosário Marques, Francisco Antunes, Nadine Ferreira, Miguel Grunho
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis...
November 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29142773/suprasellar-and-third-ventricular-cavernous-malformation-lessons-learned-in-differential-diagnosis-and-surgical-planning
#2
Kay O Kulason, Julia R Schneider, Ralph Rahme, Fanni Ratzon, Todd A Anderson, Deborah R Shatzkes, Christopher G Filippi, Peter D Costantino, David J Langer, John A Boockvar
Background: While craniopharyngiomas (CPs) are the most common cystic suprasellar lesions in adults, cavernous malformations (CMs) only exceptionally occur in this location and are seldom considered in the differential diagnosis of such lesions. However, unlike CPs, suprasellar CMs are not typically approached via an endoscopic endonasal approach. Case Description: We present a unique clinical case of suprasellar and third ventricular CM mimicking a CP, posing a major decision-making dilemma at the levels of both preoperative diagnosis and surgical planning...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29131117/significant-hemorrhage-rate-reduction-after-gamma-knife-radiosurgery-in-symptomatic-cavernous-malformations-long-term-outcome-in-95-case-series-and-literature-review
#3
Remedios López-Serrano, Nuria E Martínez, M Elena Kusak, Alicia Quirós, Roberto Martínez
BACKGROUND: The natural history of cavernous malformations (CMs) has remained unclear. This lack of knowledge has made treatment decisions difficult. Indeed, the use of stereotactic radiosurgery is nowadays controversial. The purpose of this paper is to throw light on the effectiveness of Gamma Knife radiosurgery (GKRS) therapy. METHODS: The authors reviewed data collected from a prospectively maintained database. A total of 95 patients (57 female and 38 male) underwent GKRS for high-surgical-risk CMs...
November 4, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/29110746/lead-promotes-abnormal-angiogenesis-induced-by-ccm3-gene-defects-via-mitochondrial-pathway
#4
Y Sun, H Zhang, X Xing, Z Zhao, J He, J Li, J Chen, M Wang, Y He
Lead is one of the environmental pollutants with cardiovascular toxicity. The embryos are particularly sensitive to lead exposure, because it can move through the blood-placental barrier and the blood-brain barrier easily during embryonic development. Cerebral cavernous malformations 3 (CCM3) gene plays an important role in cardiovascular development, mainly affecting cell proliferation, differentiation and apoptosis. In this study, we established a blood vessel development model of mouse embryos in order to imitate human people with CCM3 genes defects and exposing to environment toxin Pb in utero...
November 7, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/29107796/periorbital-lesions-misdiagnosed-as-dermoid-cysts
#5
Ahmed Al-Muhaylib, Hind M Alkatan, Yasser H Al-Faky, Adel H Alsuhaibani
Several periorbital lesions can be clinically misdiagnosed as dermoid cyst. We retrospectively reviewed the histopathological findings for 97 biopsied periorbital lesions with a clinical diagnosis of dermoid cyst from January 2006 to July 2016 at a single center and identified 5 cases that were eventually found to have been misdiagnosed. The main presenting symptom was a long-standing mobile painless mass with intact overlying skin below the medial aspect of the brow in 4 patients and below the center of the brow in 1 patient...
October 28, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29099298/contralateral-anterior-interhemispheric-transcallosal-transrostral-approach-to-the-subcallosal-region-a-novel-surgical-technique
#6
Feres Chaddad-Neto, Marcos Devanir Silva da Costa, Baran Bozkurt, Hugo Leonardo Doria-Netto, Daniel de Araujo Paz, Ricardo da Silva Centeno, Andrew W Grande, Sergio Cavalheiro, Kaan Yağmurlu, Robert F Spetzler, Mark C Preul
OBJECTIVE The authors report a novel surgical route from a superior anatomical aspect-the contralateral anterior interhemispheric-transcallosal-transrostral approach-to a lesion located in the subcallosal region. The neurosurgical approach to the subcallosal region is challenging due to its deep location and close relationship with important vascular structures. Anterior and inferior routes to the subcallosal region have been described but risk damaging the branches of the anterior cerebral artery. METHODS Three formalin-fixed and silicone-injected adult cadaveric heads were studied to demonstrate the relationships between the transventricular surgical approach and the subcallosal region...
November 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29097334/brainstem-cavernous-malformations-surgical-indications-based-on-the-natural-history-and-surgical-outcomes
#7
REVIEW
Ming-Guo Xie, Da Li, Fang-Zhou Guo, Li-Wei Zhang, Jun-Ting Zhang, Zhen Wu, Guo-Lu Meng, Xin-Ru Xiao
Cavernous malformations (CMs) are uncommon lesions occurring in the central nervous system (CNS), with an incidence of approximately 0.5% in the general population and constituting 5-10% of all intracranial vascular malformations. Among CMs, prevalence within the brainstem as reported in the literature has ranged from 4 to 35%. With their precarious location and potentially devastating clinical events, brainstem CMs have attracted attention from neurosurgeons, and with their unrelenting efforts, the microsurgical techniques to treat these lesions in the brainstem have greatly improved in recent decades...
October 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29076420/antiepileptic-treatment-strategy-in-vascular-malformations
#8
Dimitrios Giakoumettis, Konstantinos Margetis, George Stranjalis, Nikolaos Haliasos, Theodoros G Papaioannou, Marios S Themistocleous
BACKGROUND: Antiepileptic treatment strategy plays an important role in the management of intracranial vascular malformations. The intracranial vascular malformations can be divided into cavernous hemangiomas, arteriovenous malformations, developmental venous anomalies and capillary telangiectasias. Seizures and hemorrhage are among their most common clinical manifestations. OBJECTIVE: The aim of this article is to review the current literature on the antiepileptic treatment in the setting of intracranial vascular malformations and offer an updated view on when antiepileptic drug treatment should be employed for each type of vascular malformation...
October 27, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29063812/reorganized-neural-activation-in-motor-cortex-following-subdural-fluid-collection-an-fmri-and-dti-study
#9
Layla Gould, Michael E Kelly, Marla J S Mickleborough, Chelsea Ekstrand, Kyle Brymer, Tasha Ellchuk, Ron Borowsky
We report a patient with a cavernous malformation involving the right lentiform nucleus. Pre-surgical planning included fMRI localization of language, motor, and sensory processing, and DTI of white matter tracts. fMRI results revealed no activation near the planned resection zone. However, post-surgery the patient developed a subdural fluid collection, which applied pressure to the primary motor cortex (M1). Follow-up scans revealed that motor activation had shifted due to pressure, and then shifted to a new location after the fluid collection subsided...
October 24, 2017: Neurocase
https://www.readbyqxmd.com/read/29046973/clinical-management-of-cavernous-malformations
#10
REVIEW
Kelly D Flemming
PURPOSE OF REVIEW: This study aims to review the current epidemiology and clinical management of patients with cavernous malformations (CM). RECENT FINDINGS: Hemorrhage is the most feared complication and leads to morbidity in patients with CM. Multiple studies including three meta-analyses have provided useful estimates of hemorrhage risk, but have failed to identify a modifiable risk factor for prevention of cavernous malformation related hemorrhage. In treating the CM itself, surgical risk is weighed against the natural history...
October 18, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/29040677/navigation-linked-heads-up-display-in-intracranial-surgery-early-experience
#11
Justin R Mascitelli, Leslie Schlachter, Alexander G Chartrain, Holly Oemke, Jeffrey Gilligan, Anthony B Costa, Raj K Shrivastava, Joshua B Bederson
BACKGROUND: The use of intraoperative navigation during microscope cases can be limited when attention needs to be divided between the operative field and the navigation screens. Heads-up display (HUD), also referred to as augmented reality, permits visualization of navigation information during surgery workflow. OBJECTIVE: To detail our initial experience with HUD. METHODS: We retrospectively reviewed patients who underwent HUD-assisted surgery from April 2016 through April 2017...
October 10, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29030748/neuroimaging-of-cavernous-malformations
#12
REVIEW
Maxim Mokin, Siviero Agazzi, Lowell Dawson, Christopher T Primiani
PURPOSE OF REVIEW: Cerebral cavernous malformations (CCMs) are common vascular abnormalities often discovered on imaging as an incidental finding. The most common clinical presentations of CCMs include seizure, headache, focal neurological deficits, and intracranial hemorrhage. This article discusses the most recent guidelines including imaging diagnostic criteria and radiographic standards of CCMs and reviews the utility of currently available imaging techniques. RECENT FINDINGS: Gradient echo T2*-weighted imaging and susceptibility-weighted imaging are the recommended imaging protocols for evaluation of suspected CCMs...
October 13, 2017: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/29026674/chronic-headache-caused-by-a-titanium-fixation-plate-report-of-two-cases
#13
Shigeomi Yokoya, Akihiko Hino, Hideki Oka
BACKGROUND: We report two patients with chronic postcraniotomy headache who showed rapid alleviation of pain after removal of titanium miniplates. CASE DESCRIPTION: (Case 1) A 26-year-old woman underwent a right frontal craniotomy and excision of the entire cerebral cavernous malformation. Eleven years later, she developed headache. The titanium plate was removed and the patient presented complete amelioration of headache. (Case 2) A 50-year-old man underwent an aneurysm clipping via the lateral supraorbital approach of the left side...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026673/endoscopic-management-of-a-cavernous-malformation-on-the-floor-of-third-ventricle-and-aqueduct-of-sylvius-technical-case-report-and-review-of-the-literature
#14
Luis Alberto Ortega-Porcayo, Alexander Perdomo-Pantoja, Isaac Jair Palacios-Ortíz, Salomon Cohen Cohen, Juan Pablo González-Mosqueda, Juan Luis Gómez-Amador
BACKGROUND: Intraventricular cavernous malformations are unusual intracranial vascular malformations; their deep anatomical location complicates their surgical management. Microsurgical approaches are the gold standard approaches for the resection of ventricular lesions, however, they imply considerable neurovascular risks. CASE DESCRIPTION: A 51-year-old patient presented with acute headache, diplopia, vertigo, blurred vision, and a depressed level of consciousness...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29017984/superficial-siderosis-associated-with-a-pineal-cavernous-malformation
#15
Takafumi Ogura, Atsushi Kambe, Makoto Sakamoto, Yuki Shinohara, Toshihide Ogawa, Masamichi Kurosaki
BACKGROUND: Cavernous malformations in the pineal region are very rare and are difficult to anticipate from preoperative evaluation in patients with pineal apoplexy. We herein report the first case of a pineal cavernous malformation with superficial siderosis. Radiological findings were helpful in identifying the presence of the cavernous malformation. CASE DESCRIPTION: A 47-year-old female presented with a 4-month history of progressive headache, nausea, and dizziness...
October 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28992740/apoplexy-of-a-collision-tumour-composed-of-subependymoma-and-cavernous-like-malformation-in-the-lateral-ventricle-a-case-report
#16
Motaz Alsereihi, Fatima Turkistani, Fahad Alghamdi, Saleh Baeesa
Subependymomas are rare benign tumours arising from subependymal glial precursors that usually remain asymptomatic or may present due to obstruction of cerebrospinal fluid pathways. We describe the first report of intraventricular haemorrhage from subependymoma and cavernous-like malformation collision tumour in a 74-year-old male presented with an impaired level of consciousness.
October 10, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28989925/genital-tract-cavernous-hemangioma-as-a-rare-cause-of-postpartum-hemorrhage
#17
Bo Ram Yu, Ga Eul Lee, Dong Hyu Cho, Young Ju Jeong, Jeong Heon Lee
Cavernous hemangiomas rarely involve the female genital tract. It is difficult to identify vascular malformations when these lesions are concealed in the vagina or deep vulva area. We present a rare case of vaginal cavernous hemangioma in a 30-year-old primiparous woman with an early severe postpartum hemorrhage (PPH) and delayed continuous bleeding from the episiotomy site. She was treated successfully with transarterial embolization of the left vaginal artery. To our knowledge, this is the first reported case of PPH caused by rupture of a vaginal hemangioma during vaginal delivery in English literature...
September 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28973695/supracerebellar-infratentorial-approach-for-resection-of-tectal-and-thalamic-cavernous-malformations-3-dimensional-operative-video
#18
Arnau Benet, Halima Tabani, Dylan Griswold, Sonia Yousef, Roberto Rodriguez Rubio, Michael T Lawton
No abstract text is available yet for this article.
June 10, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28973676/surgical-resection-of-cavernous-malformation-of-the-optic-nerve
#19
Thomas J Sorenson, John Chen, Anthony Burrows, Giuseppe Lanzino
No abstract text is available yet for this article.
July 25, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28970240/thrombospondin1-tsp1-replacement-prevents-cerebral-cavernous-malformations
#20
Miguel Alejandro Lopez-Ramirez, Gregory Fonseca, Hussein A Zeineddine, Romuald Girard, Thomas Moore, Angela Pham, Ying Cao, Robert Shenkar, Bart-Jan de Kreuk, Frederic Lagarrigue, Jack Lawler, Christopher K Glass, Issam A Awad, Mark H Ginsberg
KRIT1 mutations are the most common cause of cerebral cavernous malformation (CCM). Acute Krit1 gene inactivation in mouse brain microvascular endothelial cells (BMECs) changes expression of multiple genes involved in vascular development. These changes include suppression of Thbs1, which encodes thrombospondin1 (TSP1) and has been ascribed to KLF2- and KLF4-mediated repression of Thbs1 In vitro reconstitution of TSP1 with either full-length TSP1 or 3TSR, an anti-angiogenic TSP1 fragment, suppresses heightened vascular endothelial growth factor signaling and preserves BMEC tight junctions...
November 6, 2017: Journal of Experimental Medicine
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