Sturge-Weber Syndrome

What Is It?

Sturge-Weber syndrome, also called encephalotrigeminal angiomatosis, is a congenital disorder characterized by angiomas, abnormal growth of blood vessels, which most frequently involve the nervous system and the skin of the face. Because of this involvement of the nervous system and the skin, it is known as a neurocutaneous disorder.

The neurological manifestations of Sturge-Weber general involve the leptomeninges, the membranous coverings of the brain. The skin of the face can be involved in the distributions of the trigeminal nerve (most commonly the ophthalmic and maxillary divisions) and can present as a skin angioma called a port-wine stain because of its color.

The underlying cause of Sturge Weber syndrome is not entirely known. There most certainly appears to be a significant genetic component as genetic abnormalities have been found in many patients with the disease. However, it is not a typical hereditary disease which is inherited in a simple fashion. Rather, it appears to occur sporadically. It may be due to abnormalities in embryonal development. It is present at birth (congenital).

What Types of Symptoms Are Typical?

The presence of these angiomas can have several clinical consequences. The angiomas typically occur just on one side of the face and brain, although bilateral examples have been seen. The skin angiomas present as a large port-wine stain birthmark most commonly on the forehead and eyelid or the midface, on one side.

The neurological manifestations are generally a unilateral angioma on the pia, part of the covering of the brain. This is also usually only on one side, the same side as the skin angioma. The angioma in this location can vary in exact location, size and extent. The nervous system symptoms will therefore vary from patient to patient. However, in general the angioma causes injury to the underlying brain and frequently cause seizures that begin early in infancy. The type and severity of seizures varies from patient to patient but most commonly involve the opposite side of the body primarily. If the angioma is in the region of the motor cortex, there may also be muscle weakness on the opposite side of the body.

Some children, particularly those with uncontrolled, frequent seizures, can have significant developmental delay and mental retardation. They can also present with glaucoma (increased pressure within the eye).

How Is The Diagnosis Typically Made?

In a young child who presents with with seizures and/or a port-wine stain type birthmark, a thorough neurological evaluation is usually done to work up the cause of the symptoms.

In the case of Sturge-Weber this may include neuroimaging such as CT scan and/or MRI to demonstrate the typical neurological involvement. Other tests to rule out other potential causes may also be performed.

What Are Some Common Treatments?

The treatment of any individual child with Sturge-Weber syndrome can vary and patients and their families should consult their own treating physicians about the most appropriate treatment in their specific case. However, most of the treatment is generally aimed at controlling seizure frequency or eliminating them completely if possible. This may include treatment with anti-epilepsy medications. If medications alone are not sufficient to control the seizures, surgical removal of the affected brain may be recommended in some cases. The ultimate goal of treatment is to limit or eliminate seizures to help maximize the potential for normal development and quality of life. Poor control of seizures often leads to worse outcomes.

Each patient and their family should consult their own treating physicians about the recommended treatment options in their particular case.

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Important Note: This site is not intended to offer medical advice. Every patient is different, and only your personal physician can help to counsel you about what is best for your situation. What we offer is general reference information about various disorders and treatments for your education.

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