About Wyburn-Mason Syndrome

What is Wyburn-Mason Syndrome?

Wyburn-Mason Syndrome (also known as Wyburn-Mason Syndrome of Retino-Vascular Angiomatosis) is a rare neurological disorder characterized by the presence of abnormal blood vessels in the brain and retina. It is caused by a mutation in the RASA1 gene, which is responsible for controlling the growth of blood vessels. Symptoms of Wyburn-Mason Syndrome include seizures, vision problems, headaches, and cognitive impairment. Treatment typically involves medications to control seizures and other symptoms, as well as surgery to remove the abnormal blood vessels.

What are the symptoms of Wyburn-Mason Syndrome?

The most common symptoms of Wyburn-Mason Syndrome include:

-Abnormalities of the eyes, including crossed eyes, drooping eyelids, and/or enlarged pupils
-Abnormalities of the brain, including seizures, developmental delays, and/or hydrocephalus
-Abnormalities of the face, including a flattened midface, a wide nasal bridge, and/or a wide mouth
-Abnormalities of the hands and feet, including webbed fingers and/or toes
-Abnormalities of the spine, including Scoliosis and/or kyphosis
-Abnormalities of the blood vessels, including arteriovenous malformations (AVMs)
-Abnormalities of the skin, including port-wine stains and/or hemangiomas

What are the causes of Wyburn-Mason Syndrome?

Wyburn-Mason Syndrome is a rare neurological disorder caused by a vascular malformation in the brain. It is caused by an abnormal tangle of blood vessels in the brain, which can cause a variety of neurological symptoms. The exact cause of Wyburn-Mason Syndrome is unknown, but it is believed to be caused by a genetic mutation.

What are the treatments for Wyburn-Mason Syndrome?

The treatments for Wyburn-Mason Syndrome vary depending on the severity of the condition and the individual patient. Generally, treatment focuses on managing the symptoms and preventing complications. This may include medications to reduce seizures, physical therapy to improve mobility, and surgery to remove any abnormal blood vessels. In some cases, radiation therapy may be used to shrink the abnormal vessels. Additionally, regular monitoring of vision and hearing is important to detect any changes.

What are the risk factors for Wyburn-Mason Syndrome?

The exact cause of Wyburn-Mason Syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for Wyburn-Mason Syndrome include:

• Family history of the disorder
• Being male
• Being of Caucasian descent
• Having a history of brain or spinal cord malformations
• Having a history of vascular malformations
• Having a history of certain types of tumors

Is there a cure/medications for Wyburn-Mason Syndrome?

There is no cure for Wyburn-Mason Syndrome, but medications can be used to manage the symptoms. These medications may include anticonvulsants, muscle relaxants, and pain medications. Surgery may also be used to treat some of the symptoms, such as narrowing of the blood vessels.