Encephalofacial Angiomatosis Sturge-Weber Syndrome

Encephalofacial Angiomatosis Sturge-Weber Syndrome, also referred to as Sturge-Weber syndrome (SWS), is a rare congenital disorder characterized by the presence of abnormal blood vessels in the brain, skin, and other organs.

Encephalofacial Angiomatosis

Encephalofacial angiomatosis is a general term used to describe the presence of both brain and facial blood vessel abnormalities in a disorder.

Sturge-Weber Syndrome

Sturge-Weber syndrome is a specific form of encephalofacial angiomatosis characterized by a distinct set of symptoms and physical manifestations. It is named after the doctors who first described it, William Allen Sturge and Frederick Parkes Weber.

Clinical Features

SWS is typically identified by the presence of a port-wine stain birthmark on the face, which is caused by an overabundance of blood vessels directly beneath the skin. This birthmark is often unilateral, affecting one side of the face or head. Other symptoms may include seizures, developmental delays, glaucoma, and intellectual impairment.

Cause

SWS is caused by a sporadic genetic mutation that occurs during fetal development, rather than being inherited from parents. The mutation affects cells that line blood vessels, leading to the formation of abnormal vessels in various parts of the body. The exact cause of this mutation is not yet fully understood.

Treatment and Management

Treatment for Sturge-Weber syndrome focuses on managing individual symptoms and preventing complications. This may involve medications to control seizures, laser therapy to lighten or decrease the size of the birthmark, or surgical intervention for glaucoma or other specific issues. Regular monitoring and psychosocial support are also important aspects of managing the syndrome.

While Sturge-Weber syndrome is a lifelong condition, early intervention and appropriate care can greatly improve the quality of life for individuals living with the disorder.