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| {{DiseaseDisorder infobox | | | {{DiseaseDisorder infobox | |
| Name = Cavernous angioma | | | Name = Cavernous angioma | |
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| {{Cavernous angioma}} | | {{Cavernous angioma}} |
| {{CMG}} | | {{CMG}}; {{AE}}[[User:Edzelco|Edzel Lorraine Co, D.M.D., M.D.]] [Mailto:efco@alum.up.edu.ph] |
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| {{SK}} Cerebral cavernous malformation; CCM; cavernous hemangioma, cavernous haemangioma; cavernoma | |
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| ==Overview==
| | {{SK}} Cerebral cavernous malformation; CCM; cavernous hemangioma, cavernous haemangioma; cavernoma; cavernous malformation |
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| Cavernous angioma, is a vascular disorder of the [[central nervous system]] that may appear either sporadically or exhibit [[autosomal dominant]] inheritance. | | ==[[Cavernous angioma overview|Overview]]== |
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| ==Incidence of occurrence== | | ==[[Cavernous angioma historical perspective|Historical Perspective]]== |
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| The incidence in the general population is between 0.1–0.5%, and clinical symptoms typically appear between 30 to 50 years of age. Once thought to be strictly congenital, these vascular lesions have been found to occur ''de novo''.
| | ==[[Cavernous angioma pathophysiology|Pathophysiology]]== |
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| ==Diagnosis== | | ==[[Cavernous angioma causes|Causes]]== |
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| Diagnosis is most commonly made accidentally by routine [[magnetic resonance imaging]] (MRI) screening, but not all MRI exams are created equal. ''It is paramount that the patient request a gradient-echo sequence'' in order to unmask small or punctate lesions which may otherwise remain undetected. These lesions are also more conspicuous on FLAIR imaging compared to standard T2 weighing. FLAIR imaging is different from Gradient sequences, rather, it is similar to T2 weighing but suppresses free-flowing fluid signal. Sometimes quiescent CCMs can be revealed as incidental findings during MRI exams ordered for other reasons.
| | ==[[Cavernous angioma differential diagnosis|Differentiating Cavernous angioma from other Diseases]]== |
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| Sometimes the lesion appearance imaged by MRI remains inconclusive. Consequently neurosurgeons will order a cerebral [[angiogram]] or magnetic resonance [[angiogram]] (MRA). Since CCMs are low flow lesions (they are hooked into the venous side of the circulatory system), they will be angiographically occult (invisible). If a lesion is discernible via angiogram in the same location as in the MRI, then an [[arteriovenous malformation]] (AVM) becomes the primary concern.
| | ==[[Cavernous angioma epidemiology and demographics|Epidemiology and Demographics]]== |
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| === History and Symptoms === | | ==[[Cavernous angioma risk factors|Risk Factors]]== |
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| Clinical symptoms of this disease include recurrent [[headache]]s, focal neurological deficits, hemorrhagic [[stroke]], and [[seizures]], but CCM can also be [[asymptomatic]].
| | ==[[Cavernous angioma natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
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| This disease is characterized by grossly dilated blood vessels with a single layer of [[endothelium]] and an absence of neuronal tissue within the lesions. These thinly-walled vessels resemble sinusoidal cavities filled with stagnant blood. Blood vessels in patients with CCM can range from a few millimeters to several centimeters in diameter. CCM lesions commonly resemble raspberries in external structure.
| | ==Diagnosis== |
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| Many patients live their whole life without knowing they have a cerebral cavernous malformation. Other patients can have severe symptoms like seizures, headaches, paralysis, bleeding in the brain ([[cerebral hemorrhage]], or [[hemorrhagic stroke]]), and even death. The nature and severity of the symptoms depend on the lesion's location in the brain. Approximately 70% of these lesions occur in the [[supratentorial]] region of the brain; the remaining 30% occur in the infratentorial region.
| | [[Cavernous angioma history and symptoms|History and Symptoms]] | [[Cavernous angioma physical examination|Physical Examination]] | [[Cavernous angioma CT|CT]] | [[Cavernous angioma MRI|MRI]] | [[Cavernous angioma MRA|MRA]] | [[Cavernous angioma other imaging findings|Other Imaging Findings]] | [[Cavernous angioma other diagnostic studies|Other Diagnostic Studies]] |
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| === Physical Examination === | | ==Treatment== |
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| ====Skin====
| | [[Cavernous angioma surgery|Surgery]] | [[Cavernous angioma cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Cavernous angioma future or investigational therapies|Future or Investigational Therapies]] |
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| [[Image:cavernous Hemangioma.jpg|left|thumb|200px|Cavernous Hemangioma
| | ==Case Studies== |
| <ref>http://picasaweb.google.com/mcmumbi/USMLEIIImages/photo#5089143114176965938</ref>]]
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| <br clear="left"/>
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| ==CCMs & venous angiomas==
| | :[[Cavernous angioma case study one|Case #1]] |
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| In up to 30% there is a coincidence of CCM with a venous angioma, also known as a developmental venous anomaly (DVA). These lesions appear either as enhancing linear blood vessels or [[caput medusae]], a radial orientation of small vessels that resemble the hair of Medusa from Greek mythology. These lesions are thought to represent developmental anomalies of normal venous drainage. These lesions should not be removed, as reports of venous infarcts have been reported. When found in association with a CCM that needs resection, great care should be taken not to disrupt the angioma.
| | ==Related Chapters== |
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| '''Left orbital cavernous hemangioma'''
| | *[[Arteriovenous malformation]] |
| <gallery>
| | *[[Developmental venous anomaly]] |
| Image:
| | *[[Intramedullary cavernous malformation]] |
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| Orbital-hemangioma-001.jpg
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| Image:
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| Orbital-hemangioma-002.jpg
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| </gallery>
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| ==Familial forms==
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| Familial forms of CCM occur at three known genetic loci. The gene for CCM1 encodes ''KRIT1'' (krev interaction trapped 1) and has been found to bind to ICAP1alpha (integrin cytoplasmic domain associated protein alpha), a beta1 [[integrin]] associated protein. The gene for ''CCM2'' encodes a novel protein named "malcavernin" that contains a phosphotyrosine (PTB) binding domain. The exact biological function of CCM2 is not clear. Recently, it has been shown that CCM1 and CCM2 proteins as well as ICAP1alpha form a macromolecular complex in the cell. In addition, it appears that CCM2 protein may function as a scaffolding protein for [[MAP kinases]] that are essential in p38 activation responding to osmotic stress including MEKK3 and MKK3. It also binds to [[Rac]] and [[actin]]. Therefore, CCM2 protein is also called OSM (osmosensing scaffold for MEKK3). The ''CCM3'' gene was the most recent CCM gene identified. CCM3 was known as PDCD10 (programmed cell death 10), which was initially identified as a gene that is up-regulated during the induction of [[apoptosis]] (cell death) in TF-1, a human [[myeloid]] cell line. The precise role of the PDCD10 protein in the CCM pathway that has been established to this point has not yet been determined. Research is ongoing to determine the function and properties of all three CCM gene products as well as the reaction pathways in which they are involved.
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| Mutations in these three genes account for 70 to 80 percent of all cases of cerebral cavernous malformations. The remaining 20 to 30 percent of cases may be due to other, still unidentified, genes.
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| ==References==
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| {{reflist|2}}
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| [[Category:Neurology]] | | [[Category:Neurology]] |
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| [[fr:Cavernomes cérébraux héréditaires]]
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| [[nl:Caverneus hemangioom]]
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