Sturge Weber Syndrome synonyms
What other names are the Sturge Weber Syndrome known by? Synonyms and other terms with which Sturge Weber Syndrome is known.
Sturge Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a rare congenital disorder characterized by the presence of a facial birthmark and neurological abnormalities. This condition is named after the physicians who first described it in the late 19th century, William Allen Sturge and Frederick Parkes Weber.
The primary feature of Sturge Weber Syndrome is a port-wine stain birthmark that typically affects one side of the face. This birthmark is caused by an overabundance of blood vessels near the surface of the skin. It is usually present at birth and can vary in size and color, ranging from light pink to deep purple. The birthmark may darken or thicken over time and can be associated with increased blood vessel growth in the brain.
In addition to the facial birthmark, individuals with Sturge Weber Syndrome may experience neurological symptoms such as seizures, developmental delays, intellectual disabilities, and glaucoma. The severity of these symptoms can vary widely among affected individuals. Seizures are the most common neurological manifestation and often begin in infancy or early childhood. They can range from mild to severe and may be difficult to control with medication.
Sturge Weber Syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not typically inherited from parents. The mutation affects the development of blood vessels in the affected areas, leading to the characteristic birthmark and associated neurological abnormalities. Diagnosis of Sturge Weber Syndrome is usually based on clinical examination, imaging studies, and genetic testing.
While there is no cure for Sturge Weber Syndrome, treatment focuses on managing symptoms and improving quality of life. This may involve medications to control seizures, physical and occupational therapy to address developmental delays, and surgical interventions for glaucoma or other complications. Early intervention and a multidisciplinary approach involving various healthcare professionals can greatly benefit individuals with Sturge Weber Syndrome.
