In Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis, abnormal blood vessels develop in the brain, skin, and eyes. Seizures, developmental delays, and vision problems can be caused by this condition. To effectively manage this condition, it is crucial to understand its causes, recognize its symptoms, diagnose it accurately, and implement effective prevention and treatment strategies.
An overgrowth of blood vessels in certain areas of the body is the cause of Sturge-Weber syndrome, a somatic mutation in the GNAQ gene. There is no known cause for this mutation, and the condition isn't inherited in a typical autosomal dominant or recessive manner.
Sturge-Weber syndrome can cause a variety of symptoms depending on the extent and location of the abnormal blood vessel growth. Common symptoms include:
A port-wine stain birthmark appears on one side of the face, usually following the trigeminal nerve's distribution.
There may be neurological symptoms such as seizures (epilepsy), developmental delays, intellectual disability, hemiparesis (weakness on one side of the body), and cognitive or behavioral difficulties.
Glaucoma is a common complication of Sturge-Weber syndrome, which can lead to increased eye pressure and vision loss.
It is possible for individuals with Sturge-Weber syndrome to also experience migraines, stroke-like episodes, or other neurological complications.
A clinical evaluation, imaging studies, and diagnostic tests are typically used to diagnose Sturge-Weber syndrome.
In the physical examination, healthcare providers may assess the presence of a port-wine stain birthmark and evaluate neurological function.
A magnetic resonance imaging (MRI) or computed tomography (CT) scan can be used to visualize abnormal blood vessel growth and assess associated brain abnormalities.
A glaucoma or other eye abnormalities associated with Sturge-Weber syndrome may require ophthalmologic examination.
Sturge-Weber syndrome is treated by managing symptoms and complications associated with the condition. Treatment options include:
People with Sturge-Weber syndrome who suffer from epilepsy are often prescribed anticonvulsant medications.
Management of glaucoma may involve medications to lower intraocular pressure, laser therapy, or surgical procedures to drain fluid from the eye.
It is possible to address developmental delays and improve overall functioning with early intervention programs, physical therapy, occupational therapy, speech therapy, and special education services.
Since Sturge-Weber syndrome is typically caused by somatic mutations, there are no known preventive measures to avoid its occurrence. However, early detection and prompt intervention can help manage symptoms and minimize complications.
