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Cerebral Cavernous Malformations

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https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-s-disease-and-multiple-lypomatosis-case-report
#1
Belousova Olga, Okishev Dmitry, Ignatova Tatyana, Balashova Maria, Boulygina Eugene
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28590989/-it-s-not-a-tumor-a-rare-case-of-symptomatic-cerebellar-developmental-venous-anomaly
#2
Julie A Augenstein, Teresa Chapman, Michael J McNeil, Mark D Lo
Cerebral developmental venous anomalies (DVAs) are benign anatomical variants of the venous system and are commonly described as an incidental finding without clinical significance. Neurologic symptoms or abnormal examination findings are rare and usually attributed to hemorrhagic complications related to coexisting cavernous malformations. There have been limited case reports of symptomatic, uncomplicated DVAs described in the literature. The following case describes a previously healthy child who presented to the emergency department with an acute onset of altered mental status, headache, and focal neurologic examination abnormalities...
June 6, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28552155/pharmacotherapy-for-cavernous-malformations
#3
Robert F Rudy, Rose Du
Cerebral cavernous malformations, vascular abnormalities comprised of endothelial cells in the absence of connective tissue or muscle, are often epileptogenic and often treated initially with antiepileptic drugs. This chapter discusses the role of pharmacotherapy in managing focal epilepsy secondary to cavernous malformations in adults, children, and pregnant women. Several drugs are available and potentially efficacious in suppressing seizures stemming from cavernous malformations. In addition, antiepileptic pharmacotherapy following surgical resection is indicated to decrease the risk of postoperative seizures...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552151/supratentorial-cavernous-malformations
#4
Jason A Ellis, Daniel L Barrow
Supratentorial cavernous malformations are uncommon cerebral vascular lesions that may present many unique challenges for treating physicians. The vast majority will be discovered during workup for seizures or after symptomatic intracerebral hemorrhage. Supratentorial cavernous malformations are increasingly being discovered incidentally in patients who obtain brain imaging for unrelated reasons. Management strategies including watchful waiting, antiepileptic drug therapy, microsurgery, or an expanding array of "minimally invasive" therapies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552150/developmental-venous-anomalies
#5
Michael A Mooney, Joseph M Zabramski
Developmental venous anomalies (DVAs) are relatively common lesions, present in up to 3% of the population. The defining characteristic of these lesions is the confluence of radially oriented veins into a single dilated venous channel. DVAs are also known as cerebral venous angiomas, cerebral venous malformations, and cerebral venous medullary malformations. They are the most common type of cerebral vascular malformation found on autopsy studies, and they are often encountered as incidental findings on neuroimaging studies...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552147/radiology-and-imaging-for-cavernous-malformations
#6
Kevin Y Wang, Oluwatoyin R Idowu, Doris D M Lin
Cavernous malformations are low-flow vascular malformations that are histologically characterized by the lack of mural elements of mature vascular structures and intervening parenchymal neural tissue. They are often clinically quiescent, and may grow, bleed, and regress, but can also manifest clinically as neurologic deficits or seizures in the setting of an acute hemorrhage. The low-flow nature of cavernous malformations renders them inherently occult on cerebral angiography. Magnetic resonance imaging has become the mainstay imaging modality in evaluating cavernous malformations, producing characteristic imaging features that usually provide a straightforward diagnosis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28552144/natural-history-of-cerebral-cavernous-malformations
#7
Chibawanye Ene, Anand Kaul, Louis Kim
Cerebral cavernous malformations (CCM) are vascular abnormalities of the central nervous system with an incidence of 0.4-0.5% and an annual rate of hemorrhage ranging from 0.7% to 1%. Most lesions are located in the cerebral hemisphere but some occur in deeper locations such as the basal ganglia and pons. The most common symptoms during presentation are headache, seizures, and focal neurologic deficits. Surgery remains the most effective treatment modality for symptomatic CCM, while the management of incidental CCM remains controversial...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28548106/cerebrovascular-malformations-microbiota-promotes-cerebral-cavernous-malformations
#8
Charlotte Ridler
No abstract text is available yet for this article.
May 26, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28540119/a-case-of-a-cerebral-cavernous-malformation-of-the-third-ventricle-that-caused-the-syndrome-of-inappropriate-secretion-of-antidiuretic-hormone
#9
Takahiro Sasaki, Nobuhide Hayashi, Nagatsuki Tomura, Eisaku Tsuji, Hideo Okada, Toshikazu Kuwata
BACKGROUND: Cerebral cavernous malformations (CCMs, also known as cavernous hemanigiomas) of the third ventricle are uncommon. Here, we present a rare case of a CCM that caused the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). CASE DESCRIPTION: A 68-year-old man presented with acute-onset cognitive and memory disturbance. Endocrinological examinations revealed hyponatremia due to SIADH. Computed tomography indicated a high-density mass in the third ventricle that caused left unilateral hydrocephalus due to obstruction of the foramen Monroe...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28534135/automated-algorithm-for-counting-microbleeds-in-patients-with-familial-cerebral-cavernous-malformations
#10
Xiaowei Zou, Blaine L Hart, Marc Mabray, Mary R Bartlett, Wei Bian, Jeffrey Nelson, Leslie A Morrison, Charles E McCulloch, Christopher P Hess, Janine M Lupo, Helen Kim
PURPOSE: Familial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and subject to high variability. We aimed to develop an automated algorithm for counting CCM microbleeds (lesions <5 mm in diameter) on SWI images. METHODS: Fifty-seven familial CCM type-1 patients were included in this institutional review board-approved study...
May 22, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28503485/surgical-approaches-for-symptomatic-cerebral-cavernous-malformations-of-the-thalamus-and-brainstem
#11
Dale Ding, Robert M Starke, R Webster Crowley, Kenneth C Liu
OBJECTIVE: Surgical resection of thalamic and brainstem cerebral cavernous malformations (CCMs) is associated with significant operative morbidity, but it may be outweighed, in some cases, by the neurological damage from recurrent hemorrhage in these eloquent areas. The goals of this retrospective cohort study are to describe the technical nuances of surgical approaches and determine the postoperative outcomes for CCMs of the thalamus and brainstem. MATERIALS AND METHODS: We reviewed an institutional database of patients harboring thalamic or brainstem CCMs, who underwent surgical resection from 2010 to 2014...
March 2017: Journal of Cerebrovascular and Endovascular Neurosurgery
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#12
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28500274/combined-hmg-coa-reductase-and-prenylation-inhibition-in-treatment-of-ccm
#13
Sayoko Nishimura, Ketu Mishra-Gorur, JinSeok Park, Yulia V Surovtseva, Said M Sebti, Andre Levchenko, Angeliki Louvi, Murat Gunel
Cerebral cavernous malformations (CCMs) are common vascular anomalies that develop in the central nervous system and, more rarely, the retina. The lesions can cause headache, seizures, focal neurological deficits, and hemorrhagic stroke. Symptomatic lesions are treated according to their presentation; however, targeted pharmacological therapies that improve the outcome of CCM disease are currently lacking. We performed a high-throughput screen to identify Food and Drug Administration-approved drugs or other bioactive compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28499904/completely-thrombosed-distal-middle-cerebral-artery-aneurysm-mimicking-a-cavernous-angioma-case-report-and-review-of-the-literature
#14
Sokol Trungu, Placido Bruzzaniti, Stefano Forcato, Marco Cimatti, Antonino Raco
BACKGROUND: Distal middle cerebral artery (MCA) aneurysms originate from branches of MCA distal to its main bifurcation or the peripheral branches. Distal MCA aneurysms are uncommon compared with saccular aneurysms, which develop along the proximal trunks of MCA. However, thrombotic aneurysms, characterized by organized intraluminal thrombus and solid mass, are frequently in the large and giant size range, whereas complete thrombosis of non-giant MCA aneurysms is very rare. CASE PRESENTATION: We present the clinical case of a 53 years-old woman with a completely thrombosed medium distal MCA aneurysm mimicking a cavernous angioma...
May 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28492932/population-based-prevalence-of-cerebral-cavernous-malformations-in-older-adults-mayo-clinic-study-of-aging
#15
Kelly D Flemming, Jonathan Graff-Radford, Jeremiah Aakre, Kejal Kantarci, Giuseppe Lanzino, Robert D Brown, Michelle M Mielke, Rosebud O Roberts, Walter Kremers, David S Knopman, Ronald C Petersen, Clifford R Jack
Importance: The prevalence of cerebral cavernous malformation (CCM) is unknown. Case ascertainment in most previous studies was based on autopsy data or clinical convenience samples, often without detailed clinical or radiologic information. Objective: To determine the prevalence of CCM in a population-based sample of older adults. Design, Setting, and Participants: This prospective imaging study included 4721 participants aged 50 to 89 years who were enrolled between January 1, 2004, and December 15, 2015, in the Mayo Clinic Study of Aging, a longitudinal, population-based study of residents of Olmsted County, Minnesota...
May 8, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28489816/endothelial-tlr4-and-the-microbiome-drive-cerebral-cavernous-malformations
#16
Alan T Tang, Jaesung P Choi, Jonathan J Kotzin, Yiqing Yang, Courtney C Hong, Nicholas Hobson, Romuald Girard, Hussein A Zeineddine, Rhonda Lightle, Thomas Moore, Ying Cao, Robert Shenkar, Mei Chen, Patricia Mericko, Jisheng Yang, Li Li, Ceylan Tanes, Dmytro Kobuley, Urmo Võsa, Kevin J Whitehead, Dean Y Li, Lude Franke, Blaine Hart, Markus Schwaninger, Jorge Henao-Mejia, Leslie Morrison, Helen Kim, Issam A Awad, Xiangjian Zheng, Mark L Kahn
Cerebral cavernous malformations (CCMs) are a cause of stroke and seizure for which no effective medical therapies yet exist. CCMs arise from the loss of an adaptor complex that negatively regulates MEKK3-KLF2/4 signalling in brain endothelial cells, but upstream activators of this disease pathway have yet to be identified. Here we identify endothelial Toll-like receptor 4 (TLR4) and the gut microbiome as critical stimulants of CCM formation. Activation of TLR4 by Gram-negative bacteria or lipopolysaccharide accelerates CCM formation, and genetic or pharmacologic blockade of TLR4 signalling prevents CCM formation in mice...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28488085/novel-loss-of-function-mutation-in-krit1-ccm1-is-associated-with-distinctly-progressive-cerebral-and-spinal-cavernous-malformations-after-radiochemotherapy-for-intracranial-malignant-germ-cell-tumor
#17
Alexandra Russo, Marie Astrid Neu, Johanna Theruvath, Bettina Kron, Arthur Wingerter, Silla Hey-Koch, Yasemin Tanyildizi, Joerg Faber
PURPOSE: Cerebrospinal cavernous malformations (CCMs) are vascular lesions characterized by dilated and leaky capillary caverns. CCMs can cause seizures, focal neurological deficits or acute intracranial hemorrhage; however, most patients are asymptomatic. CCMs occur either sporadically or as a familial autosomal-dominant disorder. We present a clinical and molecular study of a patient with distinctive cerebral and spinal cavernous malformations following radiochemotherapy for a malignant brain tumor...
May 9, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28460204/agenesis-of-the-internal-carotid-artery-a-family-pathology
#18
F M Perla, G Carbotta, D Di Nardo, M D'Avanzo, M C Colaiacomo, C Di Biasi, L Falvo, S Carbotta, A Maturo, F Tartaglia, L Tromba
The internal carotid artery agenesis is a rare malformation disorder. We report the case of a 12-year-old boy suffering migraine, who had presented an episode featuring amaurosis fugax, spontaneously regressed. CT angiography images show hypoplasia of the left common carotid artery with loss of opacification of the left internal carotid artery consistent to agenesis. Moreover CT scans through the skull base demonstrate absence of left petrous carotid canal and an hypertrophic left middle cerebral artery originating from an aberrant artery arising from the right cavernous carotid...
January 2017: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/28445174/obstetric-anesthesia-for-a-pregnant-woman-with-brainstem-cavernous-malformations-a-case-report
#19
Misuzu Hayashi, Manabu Kakinohana
There are no well-defined guidelines for obstetric and anesthetic management of pregnant patients with cerebral cavernous malformations (CMs). We need to pay careful attention to the attendant risks of both general and neuraxial anesthesia in this population. Here, we describe the anesthetic management of a pregnant woman with brainstem CMs who underwent cesarean delivery. We selected a general anesthetic technique because of concerns of undesirable effects of neuraxial anesthesia in the presence of cerebral CMs...
April 25, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28432261/ccm2-and-pak4-act-downstream-of-atrial-natriuretic-peptide-signaling-to-promote-cell-spreading
#20
Koichi Miura, Takashi Nojiri, Yoshiharu Akitake, Koji Ando, Shigetomo Fukuhara, Masahiro Zenitani, Toru Kimura, Jun Hino, Mikiya Miyazato, Hiroshi Hosoda, Kenji Kangawa
Atrial natriuretic peptide (ANP) is a cardiac hormone released by the atrium in response to stretching forces. Via its receptor, guanylyl cyclase-A (GC-A), ANP maintains cardiovascular homeostasis by exerting diuretic, natriuretic, and hypotensive effects mediated in part by endothelial cells. Both in vivo and in vitro , ANP enhances endothelial barrier function by reducing RhoA activity and reorganizing the actin cytoskeleton. We established mouse endothelial cells that stably express GC-A, and used them to analyze the molecular mechanisms responsible for actin reorganization...
April 21, 2017: Biochemical Journal
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