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cavernous malformations

Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D'Angelo
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions have been reported and are indeed genetic cases with a de novo mutation or a mutation inherited from an asymptomatic parent...
October 13, 2016: BMC Medical Genetics
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
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...
October 8, 2016: Familial Cancer
W Tania Rahman, Julius Griauzde, Neeraj Chaudhary, Aditya S Pandey, Joseph J Gemmete, Suzanne T Chong
Neurovascular emergencies, consisting of acute ischemic stroke, non-traumatic aneurysmal subarachnoid hemorrhage, arteriovenous malformation, dural arteriovenous fistula, and carotid- cavernous fistula, can have an acute presentation to the emergency department. Radiologists should have an understanding of these processes and their imaging findings in order to provide a prompt and accurate diagnosis. Neurointerventional radiology plays a critical role in providing additional diagnostic information and potentially curative treatment...
October 7, 2016: Emergency Radiology
Arpita Lakhotia, Hala ElMoctar, Jessica Goldstein
No abstract text is available yet for this article.
September 12, 2016: Pediatric Neurology
Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Ming-Li Li, Han Wang, Qing Lin, Chi-Meng Tzeng
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions...
2016: Frontiers in Aging Neuroscience
B K Kleinschmidt-DeMasters, Kevin O Lillehei
Radiation-induced vascular "malformations", designated cavernous hemangiomas/cavernomas ("RICHs"), are seldom biopsied and are usually diagnosed based on neuroimaging features. They are an increasingly recognized complication of both CNS external beam radiation therapy and stereotactic radiosurgery. We identified 13 patients with radiation-induced vascular "malformations" in our surgical neuropathology databases searched from 2000 to 2016; 4 had received their therapy during childhood; 5 had received radiosurgery...
September 30, 2016: Journal of Neuropathology and Experimental Neurology
Kenichiro Iwami, Masazumi Fujii, Kiyoshi Saito
Surgical treatment of lesions in the posterior thalamus, especially those extending laterally, is technically challenging because of a deep surgical field, narrow operative corridor, and the surrounding critical neurovascular structures. The authors describe an occipital transtentorial/falcine approach (OTFA) that was successfully used in the treatment of a cavernous malformation (CM) extending laterally from thalamus to midbrain. A 40-year-old man complained of progressive right hemiparesis and numbness. Radiological evaluation revealed a large CM in the left thalamus, surfacing on the pulvinar thalami, and extending 4 cm laterally from the midline...
September 30, 2016: Journal of Neurosurgery
Tengfei Yu, Xing Liu, Xiangjiang Lin, Chuanfeng Bai, Jizong Zhao, Junting Zhang, Liwei Zhang, Zhen Wu, Shuo Wang, Yuanli Zhao, Guolu Meng
BACKGROUND: Past studies found that cerebral developmental venous anomaly (DVA) is often concurrent with cavernous malformation (CM). But the reason of the concurrency remains unknown. The purpose of this study was to confirm whether angioarchitectural factors relate to the concurrence and which angioarchitectural factors can induce the concurrency. METHODS: DVA cases were selected from the records of the same 3.0 T MR. The DVA cases was divided into two group which are DVA group and DVA concurrent with CM group...
2016: BMC Neurology
Sang-Jin Park, Seong-Hyun Park
OBJECTIVE: Increased expression of angiogenic factors, such as vascular endothelial growth factor (VEGF), is associated with the pathogenesis of cerebral cavernous malformations (CCMs). The purpose of this study was to investigate plasma levels of VEGF in normal subjects and in patients with CCM and to evaluate change in these levels following stereotactic radiosurgery (SRS). METHODS: Peripheral venous blood was collected from 6 patients with CCM before SRS using Gamma Knife and at the 1 week, 1 month, 3month, and 6 month follow-up visits...
September 2016: Journal of Korean Neurosurgical Society
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
September 20, 2016: Journal of Molecular Neuroscience: MN
Saverio Francesco Retta, Angela J Glading
Cerebral Cavernous Malformation (CCM) is a vascular disease of proven genetic origin, which may arise sporadically or is inherited as an autosomal dominant condition with incomplete penetrance and highly variable expressivity. CCM lesions exhibit a range of different phenotypes, including wide inter-individual differences in lesion number, size, and susceptibility to intracerebral hemorrhage (ICH). Lesions may remain asymptomatic or result in pathological conditions of various type and severity at any age, with symptoms ranging from recurrent headaches to severe neurological deficits, seizures, and stroke...
September 14, 2016: International Journal of Biochemistry & Cell Biology
Fraser Henderson, Daniel Carl Skipper, Sunil Patel
AIM: Cavernous malformations in the spinal canal are rare. We review previous reports and present our own case of a cervical intradural extramedullary cavernoma, associated with a ventral cervical rootlet. METHODS: A 65 year old woman presented with radicular pain and paresthesias of the neck and right arm. PubMed search was used to compare her case to those previously published. RESULTS: The cavernoma was successfully removed with excellent recovery and no deficits...
September 16, 2016: British Journal of Neurosurgery
Helong Zhao, Tara M Mleynek, Dean Y Li
No abstract text is available yet for this article.
September 7, 2016: Nature Medicine
Stefanie Spiegler, Bettina Kirchmaier, Matthias Rath, G Christoph Korenke, Fabian Tetzlaff, Maartje van de Vorst, Kornelia Neveling, Amparo Acker-Palmer, Andreas W Kuss, Christian Gilissen, Andreas Fischer, Stefan Schulte-Merker, Ute Felbor
Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3...
July 2016: Molecular Syndromology
Koji Hirata, Satoshi Ihara, Masayuki Sato, Yuji Matsumaru, Tetsuya Yamamoto
INTRODUCTION: Giant cavernous malformation (GCM) in children is a rare vascular anomaly, and its natural history is unclear. Despite their giant size, intraparenchymal GCMs are low-flow vascular malformations. Herein, we report a case of hyper-vascular intraparenchymal GCM with an AV shunt in a child. CASE: A 3-year-old boy had had an enlarged head since infancy. Magnetic resonance (MR) images on admission showed a strikingly enhanced mass lesion, 6 cm in size...
September 1, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Hussam Abou-Al-Shaar, Ayman Bahatheq, Radwan Takroni, Ibrahim Al-Thubaiti
BACKGROUND: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. CASE DESCRIPTION: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures...
2016: Surgical Neurology International
Jonathan Shapey, Rahul Phadke, Neil Kitchen
Metastatic spread of extracranial systemic cancers to cerebral cavernous malformations (CCM) is extremely rare. We report the first case of metastatic renal cell carcinoma found within a CCM and provide a brief review of the available literature. This article is protected by copyright. All rights reserved.
August 27, 2016: Neuropathology and Applied Neurobiology
Hariprakash Chakravarthy, Tzu-Kang Lin, Yao-Liang Chen, Yi-Ming Wu, Chin-Hua Yeh, Ho-Fai Wong
This is a case report of de novo development of two cerebral cavernous malformations adjacent to existing developmental venous anomalies. The development of cavernomas was noted over a follow-up period of 10 years. These developments happened during the course of staged endovascular management of a complex dural arterio-venous fistula along the right sphenoid wing. The patient presented with a proptosis secondary to lympho-haemangiomatous lesion of the fronto-orbital region and a high-flow right sphenoid wing dural arterio-venous fistula...
August 25, 2016: Neuroradiology Journal
Elisa Merello, Marco Pavanello, Alessandro Consales, Samantha Mascelli, Alessandro Raso, Andrea Accogli, Armando Cama, Capra Valeria, Patrizia De Marco
Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries...
October 2016: Journal of Molecular Neuroscience: MN
Gianvincenzo Sparacia, Claudia Speciale, Aurelia Banco, Francesco Bencivinni, Massimo Midiri
PURPOSE: The purpose of this study was to assess the accuracy of susceptibility-weighted imaging (SWI), compared with T2*-weighted gradient echo (GRE) imaging in assessing cerebral cavernous malformations. MATERIALS AND METHODS: We retrospectively evaluated 21 patients with a familial form of cavernous malformation. Magnetic resonance (MR) protocol included non-enhanced and contrast-enhanced fast-spin echo (FSE) T1-weighted sequences, FSE T2-weighted sequences, fluid-attenuated inversion-recovery (FLAIR), GRE T2*-weighted and SWI sequences...
October 2016: Neuroradiology Journal
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