Wyburn Mason syndrome (Arteriovenous Malformation)

 

Wyburn-Mason Syndrome is called an arteriovenous malformation (AVM). Generally, Wyburn-Mason Syndrome or arteriovenous malformation or (AVM) disorders occurs when more than one unusual connection happens between an artery(which is called a blood vessel carrying blood from the heart to the body) and a vein (which is returning blood to the heart).

AVM or arteriovenous malformation which is like a shortcut that usually lets blood flow from an artery to a vein without passing through tiny vessels called capillaries. Capillaries are important because they help to pass oxygen and other nutrients from the blood into the organs of the body.

Any blood in your body which takes a shortcut way with the help of AVM that returns oxygen-rich blood to the heart instead of passing it to your body. If this happens, some of the heart’s work is wasted so that heart has to work harder than usual workload. Large AVMs or multiple AVMs will waste a large amount of heart’s work that cannot keep up its work in future.

Signs & Symptoms 

Children with Wyburn Mason syndrome (arteriovenous malformation) might have below signs and symptoms:

• a pink, red, or purple birthmark

• pain

• swelling

• bleeding, (nonstop)

• warmer skin over the AVM

• a pulse that's felt around the AVM

In many cases with this syndrome especially in those heads which are not recognized until adulthood.  Wyburn Mason syndrome in the head might cause:

• headaches

• trouble with body movements or speech

• loss of strength or sensation

• seizures

• vision problems

• confusion

• problems understanding speech

Bleeding from Wyburn Mason syndrome will be very hard to stop. Frequent bleeding mostly leads to anemia (low amount of blood). If the bleeding occurs inside the skull, it can be very dangerous. Wyburn Mason syndrome may grow larger which causes trouble by pressing the other organs in the body.

Causes

Wyburn Mason syndrome or Arteriovenous malformations is a rare disease which comes under a type of vascular malformation  deficiency (vascular anomalies) which typically happens when blood vessels are not developed normally.

Healthcare providers don’t know the exact cause of Wyburn Mason syndrome. Children who have them are mostly born with this disease and this syndrome may grow larger when the child grows.

Wyburn Mason syndrome will happen with some genetic syndromes which include:

• Cobb syndrome: this disorder happens when vascular malformations happen in skin that includes symptoms like wine-coloured birthmarks in your body, and Arteriovenous malformations will also happen in the body parts like spine, spinal canal, and spinal cord.

• hereditary hemorrhagic telangiectasia (HHT): Wyburn Mason syndrome or AVMs in the organs like lungs, brain, and digestive tract

• Parkes Weber syndrome: more than one Arteriovenous malformations (Wyburn Mason syndrome) in one arm or one leg which usually grows longer and larger than the same limp on the other leg which is not affected by this disease..

• Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome): Arteriovenous malformations affects the retina which is the light-sensitive part in the backside of the eye and brain, in some cases it also involves the some part of the face

Diagnosis

Healthcare providers more often find Wyburn Mason syndrome during a physical examination because they can absorb pulse in its vessels. Then they can also use other tools to learn more about the AVMs and plan treatment like:

• an ultrasound, which helps to identify the sequence pattern of blood flow through the way of Arteriovenous malformations

• a CT scan or MRI, which generally helps to see the Arteriovenous malformations size and also identify how close it is to the other normal body parts

• an angiogram, that can help doctors to map the Arteriovenous malformations blood vessels, and it helps doctors to plan how to block the blood flow to it

• an MRA, or MRA angiogram helps to use special MRI techniques which map the Arteriovenous malformations without using X-rays. In some rare cases, CT angiogram will help them diagnose the Arteriovenous malformations.

• a standard angiogram, which uses live X-rays for mapping the Arteriovenous malformations blood vessels. This test will helps the doctors to plan how to decrease or block the blood flow through the Arteriovenous malformations

Treatment 

How the doctors treat Arteriovenous malformations usually depends on the disorder's location and its size and how it affects the child. Arteriovenous malformations in the body parts of arms, legs, and body which are easier to treat than those in the part of the head.

Your physicians might be treat an AVM to :

• ease pain

• reduce bleeding

• make it smaller or lessen its effects on nearby organs

When a child’s heart works more than normal because of an Arteriovenous malformations, immediate treatment helps to prevent long-term modifications to the muscles in the heart and also possible heart failure.

Generally, Arteriovenous malformations in the head are called intracranial  AVMs. Physicians might treat this disorder with embolization, surgery alone, or surgery with radiation.

Interventional radiologists who specialise in minimally invasive image-guided procedures which can usually  do the embolization and sclerotherapy treatments.

Complications 

The important complications of Wyburn-Mason Syndrome such as:

• Loss of vision

• Hemorrhage or bleeding in the brain

Weak blood vessels which will lead to the following

• Aneurysm- which means Bulges in the blood vessel wall (aneurysm)

• And rupture of the blood vessels because of internal bleeding

• Damage to the brain: Enlargement of the blood vessels will displace or compress the brain which prevent the free flow of fluids which are surrounding the brain.Fluids might start to build up which leads to hydrocephalus. This fluid build up may cause brain tissue to move up against the skull

Complications might occur with or without treatment and in some rare cases, because of treatment also.

Prevention

• There is no preventive methods or any guidelines are available because there is no exact risk factors and cause of Wyburn-Mason Syndrome are not known.

• Currently, research is being performed to identify the possibilities of treatment and prevention of both inherited and acquired genetic disorders called Wyburn-Mason Syndrome

• Follow regular medical screening at regular intervals with tests and physical examinations are highly recommended to closely monitor the progression of malformations, if any

Frequently Asked Questions

Q1. What is the cause of Wyburn-Mason syndrome?

Ans: The exact etiology of Wyburn-Mason syndrome is currently unknown. No specific genetic or hereditary pattern has been identified. 

Q2. What is the treatment for Wyburn-Mason syndrome?

Ans: No specific treatment for Wyburn-Mason syndrome exists. Treatment is directed toward the specific symptoms that are apparent in each individual.

Q3. Can AVM be cured?

Ans: Sometimes, we follow embolization with surgical resection or radiation therapy.

Q4. How long is recovery from AVM?

Ans: Most daily activities can be resumed within 4 to 6 weeks, and a full recovery can take up to 6 months.

Q5. Is AVM a brain tumor?

Ans: A cerebral vascular malformation (AVM) is a collection or tangle of blood vessels in the brain that can restrict or alter blood flow.