Sturge-Weber Syndrome (SWS)

Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital vascular anomaly. It is a neurocutaneous disorder that affects the leptomeninges of the brain as well as facial and ophthalmic distributions of the trigeminal nerve.

An infant born with a capillary malformation (CM) on the face has approximately a 6% chance of having Sturge–Weber syndrome, and this risk increases to 26% when the CM is located in the distribution of the ophthalmic branch of the trigeminal nerve. Because the brain is involved, these children are prone to seizures, developmental delay, cognitive impairment and one-sided body weakness or paralysis. The ophthalmic component of the condition predisposes children to glaucoma.

The hallmark of SWS is extensive capillary malformation of the facial region. These malformations may have an underlying soft tissue or bony overgrowth, which may be mild or massive.

SWS is not hereditary and is caused by a mutation of the GNAQ gene.

There are three main types of SWS:

• Type 1 is the most common. Type 1 is characterized by vascular malformations on the face and brain. This type can lead to seizures. It can also delay a child’s development and cause learning disabilities. There is associated glaucoma.
• Type 2 involves a capillary malformation on the face. This type of SWS doesn’t usually affect the brain. It can lead to glaucoma, differences in blood flow and headaches. These symptoms can last into adulthood.
• Type 3 often involves unusual blood vessel growth on the brain. Type 3 has no capillary malformations and usually no glaucoma. Diagnosing type 3 can be difficult, and it is often confused with other conditions. Doctors use brain scans to identify and diagnose this type.

Diagnosis:

You/your child will meet with the Vascular Anomalies Center team during the initial clinic visit for a comprehensive review of the patient’s medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan.

Diagnosis is based on:

• Clinical features
• MRI of the brain
• Ophthalmologic exam

Your child will be referred to a neurosurgeon if the MRI confirms brain involvement and to an ophthalmologist for a comprehensive eye evaluation.

Treatment:

There is no cure for SWS and treatment is focused on symptoms that the child is experiencing. These treatments may include:

• Anticonvulsant medications to decrease seizure activity
• Ophthalmic drops to decrease pressure within the eye, and possibly surgery to treat glaucoma
• Laser treatment to lighten facial capillary malformation
• Physical/occupational therapies to correct any weakness
• Cognitive/education therapies if delays are present