Oligodendroglioma MRI

Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is characterized by abnormal blood vessels on the brain surface and skin, leading to a variety of symptoms.

Classification

SWS is classified based on the areas of the body affected:

• Type I (Classic Sturge-Weber Syndrome): This type involves facial and leptomeningeal angiomas (abnormal blood vessel formations in the brain’s surface) and may include glaucoma.

• Type II: This type involves a facial angioma without evidence of leptomeningeal involvement or neurological symptoms, but may include glaucoma.

• Type III: This type involves only leptomeningeal angiomas with no facial involvement, but neurological symptoms are present.

Cause

Sturge-Weber syndrome is caused by a somatic mutation in the GNAQ gene. This mutation occurs after conception and is not inherited from the parents; instead, it arises spontaneously in one of the developing cells. The mutation affects the development of certain blood vessels, leading to the abnormalities seen in the syndrome.

Symptoms

Symptoms of Sturge-Weber syndrome can vary significantly but typically include:

• Port-wine stain: A reddish-purple birthmark typically appearing on one side of the face, often over the forehead and eyelid.
• Neurological symptoms: These can include seizures, which may begin in infancy and vary in severity. Additional issues may involve weakness on one side of the body, developmental delays, and migraines.
• Eye problems: Glaucoma is common, occurring in about 30% of those with a facial port-wine stain. It can lead to increased pressure in the eye that can cause damage to the optic nerve.

Diagnosis

Diagnosis of Sturge-Weber syndrome typically involves:

• Medical history and physical examination: Including detailed assessment of the skin and neurological symptoms.
• Imaging studies: MRI (magnetic resonance imaging) of the brain to detect leptomeningeal angiomas and look for evidence of brain involvement.
• Eye examination: To check for signs of glaucoma and other ocular issues.

Treatment

Treatment of Sturge-Weber syndrome is symptomatic and tailored to the individual needs of the patient:

• Management of seizures: Anticonvulsant medications are prescribed to control seizures.
• Treatment for glaucoma: Medications, laser treatments, or surgery may be required to manage glaucoma.
• Laser treatment for port-wine stain: Pulsed dye laser can be used to lighten the skin marking, although multiple treatments are often necessary.
• Physical therapy and educational support: These are recommended to address developmental delays and neurological issues.
• Regular monitoring: Continuous assessment by a team of specialists, including neurologists, dermatologists, and ophthalmologists, is crucial.