Cerebral cavernous malformation




Cerebral cavernous malformation:


Also known as cavernous hemangioma, also called cavernous angioma, cavernoma, or cerebral cavernoma (CCM).



Cavernous hemangiomas located in the brain or spinal cord are referred to as cerebral cavernomas or more usually as cerebral cavernous malformations (CCMs).


They are vascular lesions of the central nervous system composed of abnormally enlarged capillary cavities without intervening brain parenchyma.


Cavernous hemangiomas of the brain and spinal cord appear at all ages but usually occur in the third to fourth decades.



CCMs have  no sexual preference. 



CCMs are  present in 0.5% of the population. 


The condition affects one in 200-250 persons.



CCMs  can be found in the white matter, but often abut the cerebral cortex. 



Refers to a type of benign vascular tumor or hemangioma, where a collection of dilated blood vessels form a lesion. 



Cavernous malformations are composed of caverns or clusters of dilated capillaries with no intervening brain.



The endothelium of such blood vessels lack normal tight junctions, resulting in leakiness.



Grossly, the lesion is similar to mulberries or raspberries.



T2-weighted MRI sequences demonstrated a reticulated central portion of the lesion with a popcorn appearance.



The T2 hyperintense signal reflects blood and thrombosis in the caverns. 



Hypotensive regions may reflect aging blood or calcium. 



The typical T2 hypo intense rim around the lesion reflects surrounding hemosiderin.



There is a slowing of blood flow through the cavities.



The blood vessels do not form the necessary junctions with surrounding cells.



The lack of structural support from the smooth muscle is hindered, causing blood to leak into the surrounding tissue. 



The  leakage of blood causes symptoms associated with the condition.



Patients may or may not experience symptoms. 



Complications of CCM: can be life-disruptions to normal functioning, seizures, hemorrhage inside the brain tissue, vision problems, difficulty with speaking, memory loss, ataxia, or hydrocephalus, headaches and weakness or numbness in the arms or legs.



Familial cerebral cavernous malformations is thought to be responsible for one-third to one-half of cases.



Mutations may be inherited in an autosomal dominant fashion.



Mutations may occur sporadically. 


PIK3CA mutations are represented to a greater extent than any other genes in CCM‘s.


CCM genes affect endothelium stabilization and programmed cell death.



Approximately 50% of Hispanic patients with cerebral cavernous malformations in the US have a familial form. 



Familiar form of the condition accounts for only 10 to 20% of cases in Caucasians.



Several genes have been identified as having mutations thought to be related to these lesions, and these genes are located at chromosomes 7 and 3.



The loss of function of these genes is believed to be responsible for cerebral cavernous malformations.



It  is also believed that a second hit mutation is necessary for the onset of the disease. 



CCMs that contact the cortex, can represent a potential seizure focus.



CNS CCMs borders are not encapsulated, and can change in size and number over time.



Radiation causes for cavernous hemangiomas, but some cases are still unknown. 



Loss  of heterozygosity is common in tissue where hemangioma develops, 


confirming  that more than a single allele mutation is needed for the abnormal cell proliferation. 



It is theorized that endothelial cell proliferation with dysfunctional tight junctions, that are under increased endothelial stress from elevated venous pressure provides the pathophysiological basis for cavernous hemangioma development.



Gradient-Echo magnetic resonance imaging by MRI is most sensitive method for diagnosing cavernous hemangiomas.



MRI associated with an increased diagnosis of cavernous hemangiomas.



MRI appearance is most commonly described as “popcorn” or “mulberry”-shaped.



Computed tomography (CT) scanning is not sensitive or specific enough for diagnosing cavernous hemangiomas.



Angiography is typically not required  for diagnoses. 



MRI appearance is essentially pathognomonic, and biopsy is rarely needed for diagnosis.



Applying pressure to the tumor can also be used to minimize swelling.



A procedure using small particles to close off the blood supply, sclerotherapy allows for tumor shrinkage and less pain. 



A common complication of the surgery is hemorrhage and the loss of blood. 



Hemangioma may reoccur after its removal.



The risk of a stroke or death is also possible with cerebral cavernous malformation.



Treatments for cerebral cavernous hemangiomas include radiosurgery or microsurgery.



Cerebral cavernous hemangioma


treatment depends on the site, size and symptoms, as well as the history of hemorrhage from the lesion.



Microsurgery is preferred if the cerebral cavernous hemangioma is superficial in the CNS, or the risk of damage to surrounding tissue from irradiation is too high. 



Persistent symptoms of seizures or coma are indications for microsurgical intervention. 



Gamma-knife radiation provides precise radiation dose to the cerebral cavernous hemangioma while relatively sparing the surrounding tissue.



Two studies showed  that each year 0.5% of people who have never had bleeding from their brain cavernoma, but had symptoms of seizures, were affected by bleeding.



Patients who have had bleeding from their brain cavernoma in the past have a higher risk of subsequent bleeding: 


4-23% a year.



If  cavernous hemangiomas are completely excised, there is very little risk of growth or rebleeding.



Approximately 40% of malformations have associated symptoms. 



Asymptomatic individuals are usually individuals that developed the CCM malformation sporadically.



Symptomatic individuals with CCM usually have inherited the genetic mutation.



The majority of diagnoses of CCM are in adult patients.



25% of cases of CCM occur in children.



Neurosurgery is usually the treatment for brain cavernous hemangioma.



Efficacy of treatment with stereotactic radiation therapy is being studied.



There is no information related to the long-term outlook of patients with cavernoma.




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