Cavernous Malformations

Cavernous malformations are abnormally shaped blood vessels found in the brain or along the spinal cord. These malformations lead to clusters of blood vessels and stretched-out blood vessels with weakened walls, both of which can disrupt blood flow to the brain. Cavernous malformations may be as small as a quarter-inch in size or as large as three to four inches.

While these malformations can be found anywhere in the body, cerebral cavernous malformations, which occur in the brain, typically cause the most serious effects and disrupt normal neurological function.

When cavernous malformations are found in other locations in the body, they typically cause few or no symptoms. In fact, about 25% of people who have these malformations do not experience related health issues.

But in other cases, as blood flow is disrupted, severe and life-disrupting symptoms can occur, including bleeding in the brain.

Symptoms of Cavernous Malformations

For those who do experience symptoms, the type of symptoms and their severity depend on the location of the cavernous malformation and its walls’ strength.

Depending on whether the malformation is in the brain or spinal cord, a person may experience a wide range of neurological symptoms, including:

  • Balance issues
  • Cerebral hemorrhage (brain bleeding)
  • Headaches
  • Loss of sensation
  • Memory problems
  • Muscle weakness
  • Paralysis
  • Seizures
  • Vision or hearing problems

How Cavernous Malformations Are Diagnosed

If symptoms thought to be associated with a cavernous malformation are exhibited, a doctor will thoroughly review them, talk through personal and family medical history, and conduct a thorough physical exam.

To conclusively diagnose a cavernous malformation, the doctor will also order additional testing. This will likely include imaging tests, including MRI, to capture detailed images of the brain and/or spine. These images will reveal whether cavernous malformations are present.

Cavernous malformations can be genetic. In fact, around 20% of people with cerebral cavernous malformations have the “familial” form of the condition. Because of this, genetic testing may also be ordered to identify mutations that may be present.

Treatment for Cavernous Malformations

Treatment for cavernous malformations depends on a number of factors, including the size of the malformation, where it is located and its severity.

When a person experiences no symptoms, treatment may be unnecessary. A doctor will likely recommend regular checkups and imaging tests to determine whether a lesion has increased in size or severity.

In other cases, a doctor may recommend treatment with medications. While there is no specific medication used to treat cavernous malformations, medications can be used to manage symptoms. This could include anti-seizure medications to lessen the likelihood of seizures related to the cavernous malformation, along with medications to help alleviate headaches associated with the condition.

In severe cases, surgery may be required. This is typically the best option for treatment for someone person who experiences recurrent seizures that do not respond to medication or when a cavernous malformation causes repeated bleeding in the brain. During surgery, a doctor would use microsurgical techniques to carefully remove the malformation from the brain or spine.

 

Sources:

https://www.mayoclinic.org/diseases-conditions/cavernous-malformations/diagnosis-treatment/drc-20360942

https://rarediseases.org/rare-diseases/cavernous-malformation/

https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation#diagnosis

https://rarediseases.info.nih.gov/diseases/1204/cerebral-cavernous-malformation

https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Cavernous-Malformations

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