Symptoms[ edit ] Individuals with this condition may have symptoms such as seizures due to the compression of the brain tissue or hemorrhaging of angioma scarring surrounding tissue, an intraparenchymal hemorrhage , double vision or other vision problems, language difficulties, memory loss, and incidental hydrocephalus. Minor symptoms may include headaches, weakness or numbness in the arms or legs, and ataxia. When it occurs in the liver it is usually asymptomatic but may present as pain in the upper right abdomen, a feeling of fullness after eating only a small amount of food, lack of an appetite, nausea, and vomiting. In the eye, as the lesion changes in size it will involve the extraocular muscles and optic nerve , and patients report double vision , decreased vision, and progressive proptosis. They are often described as raspberry-like structures because of the bubble-like caverns.

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It can also occur in other locations, such as the thyroid gland [ 1 ] or the liver. Once thought to be strictly congenital, these vascular lesions have been found to occur de novo. 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. Esses vasos de parede fina assemelham cavidades sinusoidais cheia de sangue estagnado.

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.

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. Cavernous angiomas can also occur in the spinal cord. Diagnosis is most commonly made accidentally by routine magnetic resonance imaging MRI screening, though detection is far more likely via a specific imaging technique known as a gradient-echo sequence MRI, which can unmask small or punctate lesions that may otherwise remain undetected.

FLAIR imaging is different from Gradient sequences, rather, it is similar to T2 weighing but suppresses free-flowing fluid signal. 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. 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 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. The exact biological function of CCM2 is not clear. It also binds to Rac and actin.

CCM3 is 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.

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. The remaining 20 to 30 percent of cases may be due to other, still unidentified, genes.


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