Cavernous malformations : Causes-Symptoms-Diagnosis-Treatment


 What are Cavernous malformations (CCMs)?

cerebral cavernous malformation (CCM) could be an assortment of tiny blood vessels (capillaries) within the central system that's enlarged and irregular in structure. In CCM, the walls of the capillaries area unit diluent than traditional, less elastic, and area unit possible to leak. Cavernous malformations will happen anywhere within the body. They most typically manufacture symptoms after they are a unit found within the brain and funiculus.

What are Cavernous malformations (CCMs)?
Cavernous malformations

These clusters of blood vessels (lesions) are but 1/4 in. to four inches in size.

Common symptoms embrace headaches or seizures. Experiencing symptoms depends on wherever the lesions grow and the way several of the lesions are unit gifts.

Most of the time, these formations cause no issues. Many folks ne'er recognize that they need one. In some folks, however, the lesions will burst and bleed into the brain, inflicting medicine issues, together with stroke and, in rare instances, death.

  1. Circulatory system

  1. Nervous system

medical terms

  • Cerebral cavernous malformations (CCM) are abnormally formed blood vessels As contrasted to other kinds of hemangiomas CCM vessels have the appearance of a small mulberry and they create problems in the brain or spinal cord These lesions which vary in size from 2 millimeters to 25 centimeters can develop in multiple locations on one side of the brain or one side of a spinal column They may cause headaches seizures and developmental delays several centimeters in diameter is often hereditary but most often occur on their own

  • CCMs can leak blood leading to bleeding in the brain or spinal cord (hemorrhage) This can lead to bleeding in the brain or spinal cord (hemorrhage) that generates a wide range of symptoms depending on where a cavernous malformation is located within a person's nervous system

Facts about cavernous malformations

About one in a hundred to two hundred individuals have cavernous malformations. The malformations most likely type before or shortly once birth. Some could appear to look and disappear over time on follow-up tomography scans.

About twenty fifths of individuals with cavernous malformations within the brain ne'er have symptoms.

In some instances, the condition is caused by mutations, especially genes. These familial cavernous malformations square measure heritable from a parent. In alternative cases, the malformations seem while not a case history.

Symptoms Cavernous malformations

Cerebral cavernous malformations (CCMs) may or may not be noticeable If symptoms do occur they are usually minor and tend to occur when multiple episodes of bleeding or blood clot formation lead either to seizures for upper lobe CCM or focal issues for basal ganglia and spinal cord CCMs

Generally signs and symptoms of CCM may include weakness numbness difficulty speaking difficulty understanding others unsteadiness (swaying) vision changes or severe headache Seizures can occur and neurological issues can progressively worsen over time with recurrent bleeding Bleeding can occur soon after an initial bleed or much later or a repeat bleed may never occur

When to see a doctor

Seek medical help immediately if you experience any symptoms of seizure or signs and symptoms that suggest brain hemorrhage such as:

  • Sudden, severe headache

  • Nausea

  • Vomiting

  • Weakness or numbness on one side of the body

  • Speech difficulties (not hearing or understanding speech)

  • Loss of vision

  • Double vision

  • Balance difficulties

Causes Cavernous malformations

Most CCMs (congenital contractures) appear without any known cause or family history

In many cases it is possible to identify relatives who are afflicted with multiple malformations A diagnosis of the inherited form can be confirmed by genetic testing

Some cases of CCM can also be caused by focal brain radiation therapy

Risk factors Cavernous malformations

As mentioned above, whereas most CCMs occur with no clear cause, the genetic (inherited familial) style of the condition will cause multiple cavernous malformations, each ab initio and over time.

To date, analysis has known 3 genetic variants liable for familial cavernous malformations, to which just about all familial cases of cavernous malformations are copied. 

Complications Cavernous malformations

The most concerning complications of CCMs stem from recurrent bleeding which may lead to progressive neurological damage

Hemorrhages are more likely to recur in people who have had a previous hemorrhage They're also more likely to recur in patients with malformations located in the brainstem

Can cavernous malformations disappear?

Cavernous malformations (CMs) are abnormal dilated blood vessels that lack a normal-size wall The diameter of these lesions can range from a few millimeters to the size of a large grapefruit or orange They usually occur in the head and neck and grow slowly but steadily over time often remaining asymptomatic until they reach an advanced stage.

When should a cavernoma be treated?

Because of the potential for cerebral aneurysms to bleed or rupture such a lesion must be treated surgically once leakage has been detected Although people may experience no symptoms from a cavernoma any evidence of subarachnoid hemorrhage or intracerebral hemorrhage should be investigated via brain angiography.

A cavernous malformation (CM) is a cluster of abnormal blood vessels usually located in the brain or spinal cord It can cause seizures stroke and hemorrhagic stroke; though it isn't common it can also cause bleeding in the brain that is sometimes fatal Surgery is often recommended because there are no medications available to completely control its symptoms without causing serious side effects Research has not revealed any preventative measures for this condition.

Diagnosis Cavernous malformations

 Neurology consultation

The woman's physician is a  neurologist

Many people with cerebral cavernous malformations (CCMs) do not show any signs or symptoms of their condition Your doctor may explore your brain for other neurological conditions or you may develop specific symptoms that prompt your doctor to pursue more extensive testing

Depending on the reason for suspicion medical doctors will order tests to confirm CCMs or identify other related conditions Brain imaging is also needed as soon as possible after the emergence of any new symptoms to reveal either hemorrhage or the emergence of any new viruses Malformations occur when a child is born with a deformity

  • Magnetic resonance imaging (MRI). In this test a detailed picture is made of your brain or spine Blood vessels in the brain may be imaged as well Sometimes a doctor may inject a contrast dye into a vein in your arm to look at the brain tissue in a slightly different way or to better look at the blood vessels in the brain

  • Genetic testing.If you have a family history of the condition genetic counseling and tests are helpful to identify changes associated with CCMs in genes or chromosomes Brain MRI scan

An MRI is administered to a person.

Treatment Cavernous malformations

Doctors trained in brain and nervous system conditions such as Neurologists Cerebrovascular Neurologists (neuroradiologists) and others are also involved in treating CCMs as well as other neurological conditions

Your treatment may include:

  • Observation. If you are not experiencing symptoms your doctor may initially decide to monitor your cavernous malformation since the risk is generally lower for those who are non-symptomatic Sometimes the doctor may recommend intermittent monitoring such as magnetic resonance imaging Let your doctor know about any changes in your symptoms as soon as possible

  • Medications.If you have seizures related to a cavernous malformation you may be prescribed medications to stop the seizures

  • Surgery.Your doctor may recommend surgery to remove the cavernous malformation

Surgery is used to correct a defect in the brain

Mayo Clinic neurosurgeons removed a cavernous malformation

If your treatment plan includes surgery more advanced imaging technologies may also be useful within specific contexts

Potential future treatments

Several imaging technology areas hold promise to improve predictions of the course of diseases in some specific contexts and to enhance the level of information available about a particular individual's disease state Quantitative imaging offers new tools for understanding the progression of illnesses and for detecting early changes that may presage worsening outcomes In addition new technologies are being developed that can provide images with higher spatial resolution than ever before possible These advancements will allow clinicians to make more precise diagnoses and deliver more targeted therapies which will lead These developments hold promise for enhanced imaging that may in the future lead to more precise and effective clinical care in patients with lupus the future

Preparing for your appointment

What you can do

  • Keep a detailed symptoms calendar.Recording each symptom as it occurs and how long it lasts will help you to understand what is happening to your body

  • Write down key personal information,Stress should be avoided during this phase

  • Make a list of all medications,Vitamins or supplements you are taking

  • Take a family member or friend along.Sometimes it can be difficult to remember all the information provided during an appointment Someone who accompanies you may remember something that you missed or forgot

  • Bring any recent brain scans or other imaging to your appointment

Write down questions to ask your doctor

Preparing a list of questions will help you make the most of your time with your doctor List your questions from most important to least important in case time runs out Most of these would be covered during your visit Some examples of good questions to ask your doctor follow:

General questions

  • The kind of person you are today is the kind of person you will be tomorrow

  • Where is it, or where are they located?

  • What functions do the area(s) of the brain perform?

  • In an effort to prevent birth defects and developmental disorders my children (and others in my family) should be tested

  • Should I have genetic tests for hereditary cancers?

Management and observation

  • How often will I need follow-up tests?

  • How often will I follow up with you?

Surgery (to remove a malformation)

  • How long would you guess that I would be in surgery?

  • Surgery recovery usually takes a few days to weeks

  • How long should I plan to be in the hospital?

Surgical background

  • How many CCMs have you seen, and how many have you treated?

  • Does your institution have a neurovascular specialty practice?

Other questions may work for others; The Angioma Alliance website offers a more extensive set of suggested questions

When you can't understand a piece of information or your doctor keeps repeating something do not hesitate to ask questions When you ask questions throughout your appointment and the doctor doesn't answer them you may want to consider changing doctors

What to expect from your doctor

Your doctor will often ask you a number of questions:

  • Tell me when you first began experiencing symptoms such as seizures and hemorrhage weakness in arms and legs and vision problems balance problems or difficulty with memory or attention

  • Do your symptoms come and go (intermittently) or are they persistent (present all the time)?

  • Do your symptoms occur at certain times?

What you can do in the meantime

Certain conditions and activities can trigger seizures so it’s helpful to:

  • Avoid excessive alcohol consumption

  • Avoid nicotine usage

  • Get enough sleep

  • Reduce stress

General summary

  1. in the brain Cavernous malformations are abnormal clusters of blood vessels in the brain that can leak or hemorrhage Experts believe they are caused by an abnormal connection between arteries and veins during fetal development The bleeding causes damage to surrounding tissue and is often fatal if it occurs in a part of the brain vital to bodily functions such as the part of the brain controlling breathing.

  2. Cavernous malformations are a group of vascular lesions that can be present at birth (congenital) or develop later in life Cavernous malformations may occur singly or they may be multiple They can form anywhere in the body but tend to be found more commonly on the face and extremities and less often under the scalp (in the brain) Some cavernous malformations occur within structures such as the brain muscles kidneys or liver Others grow into nearby nerves causing tingling sensations (paresthesia) pain or loss of sensation and muscle weakness These symptoms can range from mild.

  3. The cavernous malformation is an abnormal collection of blood vessels but they are not true vascular structures True blood vessels have a smooth muscle lining to help them contract and expand in order to control the amount of blood flowing through them In the cavernous malformations there is no tunica media because it has been replaced with irregular channels of endothelial cells and connective tissue.

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