Sturge–Weber syndrome

Sturge-Weber CT

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by a distinctive facial port-wine stain, neurological abnormalities, and eye problems. It is also known as encephalotrigeminal angiomatosis. The condition is named after William Allen Sturge and Frederick Parkes Weber, who first described it in the 19th century.

Clinical Features

Sturge–Weber syndrome is typically identified by the presence of a facial port-wine stain (nevus flammeus), which is a type of capillary malformation. This birthmark is usually located on the forehead and upper eyelid of one side of the face and follows the distribution of the trigeminal nerve.

Neurological Manifestations

Individuals with SWS often experience neurological symptoms due to the presence of leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These symptoms can include:

• Seizures
• Hemiparesis (weakness on one side of the body)
• Developmental delay
• Intellectual disability
• Migraines

Ocular Manifestations

Eye problems associated with SWS can include:

• Glaucoma
• Buphthalmos (enlarged eyeball)
• Choroidal hemangioma

Pathophysiology

The exact cause of Sturge–Weber syndrome is not fully understood, but it is believed to result from a somatic mutation in the GNAQ gene. This mutation leads to abnormal blood vessel development in the affected areas.

Diagnosis

Diagnosis of SWS is primarily clinical, based on the characteristic facial port-wine stain and neurological symptoms. Imaging studies such as MRI and CT scan can help identify leptomeningeal angiomas. Ophthalmologic examination is essential to detect glaucoma and other eye abnormalities.

Treatment

There is no cure for Sturge–Weber syndrome, and treatment is symptomatic and supportive. Management strategies include:

• Anticonvulsant medications for seizures
• Laser therapy for port-wine stains
• Surgery for glaucoma
• Physical therapy and occupational therapy for developmental delays

Prognosis

The prognosis for individuals with SWS varies widely depending on the severity of symptoms. Early intervention and comprehensive management can improve the quality of life for affected individuals.

Related Pages

• Neurocutaneous syndromes
• Port-wine stain
• Trigeminal nerve
• Seizure
• Glaucoma