Sturge-Weber Syndrome

Overview

Sturge-Weber syndrome is a rare condition that a person is born with, in which clusters of abnormal blood vessels affect three main areas: the skin of the face, the brain, and the eye. The most visible sign is a reddish or purplish birthmark on the face called a port-wine stain, which is present at birth.

The abnormal blood vessels over the surface of the brain can affect blood flow and lead to seizures, weakness on one side of the body, and developmental or learning difficulties. Involvement of the eye can raise the pressure inside it. The condition varies widely, and some people are mildly affected while others have more significant challenges. Care involves a team of specialists and focuses on managing seizures, eye pressure, and development.

Symptoms

Symptoms vary depending on which areas are involved and how severely. They may include:

• Port-wine birthmark: A flat reddish or purplish mark on the face, often involving the area around the eye and forehead.
• Seizures: Often beginning in infancy or early childhood, sometimes affecting one side of the body.
• Weakness or reduced movement on one side of the body.
• Developmental delays or learning difficulties.
• Eye problems: Including raised eye pressure (glaucoma), which can affect vision.
• Headaches, which can be migraine-like.

The pattern and severity differ greatly from one person to another.

Causes

Sturge-Weber syndrome is caused by a change (mutation) in a gene that occurs randomly in some of the body's cells very early in development, before birth. This is not an inherited change passed from parent to child, and it is not caused by anything the parents did during pregnancy.

The gene change affects how certain blood vessels form, leading to the abnormal vessel clusters seen in the skin, brain, and eye. Because the change happens in only some cells, the areas affected and the severity vary from person to person.

Risk Factors

• The condition arises from a random gene change and is not inherited
• A facial port-wine stain involving certain areas, such as around the eye and forehead, raises the chance of brain or eye involvement

There are no known lifestyle or environmental risk factors, and the condition cannot be prevented. A port-wine birthmark in a high-risk location is a reason to evaluate for brain and eye involvement.

Diagnosis

Diagnosis is based on the characteristic findings and imaging.

• Physical examination: Recognizing a facial port-wine stain, especially in areas that suggest higher risk.
• Brain imaging: MRI, sometimes with contrast, to look for the abnormal blood vessels over the brain and related changes. CT may also be used.
• Eye examination: To check for raised eye pressure and other eye involvement.
• Seizure assessment: Including EEG if seizures are suspected.

Early evaluation of children with a high-risk facial birthmark helps detect brain and eye involvement and guide care.

Treatment

There is no cure, and treatment focuses on managing the specific problems and supporting development. Care usually involves a team of specialists.

• Seizure control: Anti-seizure medications, and in some difficult cases, surgery may be considered.
• Eye care: Regular eye exams and treatment of raised eye pressure (glaucoma) with medication or surgery to protect vision.
• Birthmark treatment: Laser therapy can lighten the port-wine stain.
• Developmental and physical support: Physical, occupational, and learning support tailored to the child's needs.
• Headache management and other supportive care.

Ongoing monitoring helps catch and manage problems early.

Prevention

Sturge-Weber syndrome cannot be prevented because it results from a random gene change before birth. However, early recognition and care can reduce complications:

• Evaluate infants with a high-risk facial port-wine stain for brain and eye involvement
• Arrange regular eye exams to detect and treat raised eye pressure early
• Watch for and promptly treat seizures
• Provide early developmental support and therapies as needed

When to See a Doctor

See a doctor if a baby has a facial port-wine birthmark, especially involving the area around the eye and forehead, so they can be checked for brain and eye involvement. Seek emergency care for:

• A seizure, especially a first seizure or one lasting more than five minutes
• Repeated seizures without recovery in between
• Sudden weakness, difficulty moving one side of the body, or unusual drowsiness
• Signs of vision problems or eye pain

Prompt attention to seizures and eye pressure helps protect the brain and vision.

Related Topics

Frequently Asked Questions

References

1. National Institute of Neurological Disorders and Stroke (NINDS). Sturge-Weber Syndrome.
2. MedlinePlus, U.S. National Library of Medicine. Sturge-Weber syndrome.
3. Genetic and Rare Diseases Information Center (GARD), National Institutes of Health.
4. The Sturge-Weber Foundation.