Know What is Wyburn-Mason Syndrome and its Treatment?

What Is Wyburn–Mason Syndrome?

Wyburn-Mason Syndrome is an extremely rare pathological condition identified at birth. Newborns affected with this disease have Arteriovenous Malformations. Arteriovenous Malformations are developmental abnormalities in which the blood vessels, arteries, and capillaries get affected. The function of the arteries is to carry oxygenated blood to the parts of bodies from the heart, whereas veins carry deoxygenated blood to the heart. In Arteriovenous Malformations, the collection of extremely minute blood vessels known as capillaries which normally connect arteries and veins are absent and the veins and arteries are linked directly. Larger sized Arteriovenous Malformations may have a mass of abnormal deformed blood vessels. Arteriovenous Malformations caused due to Wyburn-Mason Syndrome are normally found in the eyes and middle part of the brain.

What is Wyburn-Mason Syndrome

What Are The Causes Of Wyburn–Mason Syndrome?

The exact cause of Wyburn-Mason syndrome is still not known. This disease is considered to be a development anomaly in which there is development of Arteriovenous Malformations. This disease is not known to be hereditary. It is also unknown as to why there is development of vascular malformations in Wyburn-Mason Syndrome, although some reports suggest that it may be due to abnormalities during development of blood vessels at the time of fetal growth.

What Are The Symptoms Of Wyburn–Mason Syndrome?

The symptoms identified in Wyburn-Mason Syndrome are extremely variable and differ from individual to individual. Affected children may have eye abnormalities, abnormalities of the central nervous system or in extremely rare instances the skin. In Wyburn-Mason Syndrome, the malformations are variable and range from missing capillaries to development of large sized tangled masses of blood vessels. The absence of capillaries result in the veins and arteries getting connected directly causing excessive flow of blood.

How Is Wyburn–Mason Syndrome Diagnosed?

The diagnosis of Wyburn-Mason Syndrome involves extensive clinical evaluations including a detailed history of the affected individual and identification of the characteristic findings of the disease. Apart from this, radiologic studies like MRI scan or CT scan may be done in order to identify potentially serious complications in the brain or the central nervous system.

What Are Treatments For Wyburn–Mason Syndrome?

There is no definitive treatment to cure Wyburn-Mason Syndrome and treatment is aimed at controlling the symptoms and preventing any complications that may arise due to Arteriovenous Malformations. Milder forms of Arteriovenous Malformations may not require specific treatment as they tend to remain stable and do not cause complications. In cases if there is hemorrhaging of the retina, then laser treatment or cryosurgery is required for control of the bleeding.

Stereotactic Radiosurgery For Arteriovenous Malformation In Wyburn-Mason Syndrome:

There are some treatment measures which are still under investigation and their success rate is under observation. These are mainly concentrated on Arteriovenous Malformations in the brain. In some cases, these malformations are completely removed with surgery, although in some cases due to the location of the Arteriovenous Malformation surgical removal is not recommended. In such cases radiation treatment is considered. There are different types of stereotactic radiosurgery can be used like Linac, Gamma Knife, CyberKnife etc. The Arteriovenous Malformation can also be embolized in some cases.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:February 1, 2019

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