Sturge-Weber Syndrome and Related Diseases – Cannabis Research

Description of Sturge-Weber Syndrome and Related Diseases

Sturge-Weber Syndrome (SWS) is a rare neurological disorder that typically manifests at birth and is characterized by a combination of vascular malformations, including a distinctive port-wine stain (a red or purple birthmark) on the face. This condition is caused by a mutation in the GNAQ gene, leading to abnormal blood vessel development in certain areas of the body, particularly in the skin and brain. The port-wine stain usually appears on one side of the face, often following the distribution of the trigeminal nerve, and is one of the most recognizable features of the syndrome.

Along with the visible birthmark, individuals with SWS often experience a range of neurological symptoms. Seizures are common, usually beginning in early childhood, and can vary from focal to generalized seizures. Over time, these seizures can become difficult to control, which may contribute to developmental delays and intellectual disabilities in some individuals. Additionally, hemiparesis, or weakness on one side of the body, is another potential symptom resulting from brain malformations caused by abnormal blood vessel formation. These malformations can also lead to stroke-like episodes, causing sudden neurological deficits such as weakness, difficulty speaking, or loss of coordination.

Eye-related issues are also prevalent in SWS, particularly glaucoma. The abnormal blood vessels in the eye can increase intraocular pressure, leading to this condition, which can ultimately result in vision loss if not properly managed. Alongside glaucoma, individuals may also face other visual impairments.

While the symptoms of SWS can vary, some individuals may experience cognitive impairments or learning difficulties, making special education and therapy a critical part of their care. Chronic headaches are also common, often stemming from pressure within the brain or eyes.

Diagnosing SWS typically involves recognizing the characteristic port-wine stain and confirming the condition with imaging studies, such as MRI or CT scans, which reveal brain malformations. Genetic testing can also identify the mutation in the GNAQ gene.

Managing the disorder is multifaceted, with treatment focusing on controlling symptoms. Seizure medications are commonly prescribed to reduce the frequency and intensity of seizures, while glaucoma treatments help manage intraocular pressure. Support for developmental challenges is essential, often through special education programs and therapy. In some cases, surgical interventions may be required to treat complications in the brain or eyes.

Though SWS is a lifelong condition, many individuals can lead fulfilling lives with proper care and ongoing support. A multidisciplinary healthcare team, including neurologists, ophthalmologists, and developmental specialists, is often essential in managing the various aspects of the disorder.

For more information on SWS click here (K. Achint et al., 2023)