Dimitri–Sturge–Weber syndrome

Dimitri–Sturge–Weber syndrome (DSWS), also known as Sturge-Weber syndrome or encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is characterized by a port-wine stain birthmark on the face, neurological abnormalities, and vascular eye abnormalities. DSWS is associated with a mutation in the GNAQ gene, which occurs sporadically and is not inherited. The syndrome affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes.

Symptoms and Signs

The most visible sign of Dimitri–Sturge–Weber syndrome is a facial port-wine stain, usually affecting one side of the face. However, the extent and location can vary. Neurological symptoms may include seizures, which often start in infancy and vary in severity. Intellectual disability, developmental delays, and weakness on one side of the body (hemiparesis) can also occur. Eye abnormalities, such as glaucoma, may develop, potentially leading to vision loss if not treated promptly.

Causes

DSWS is caused by a somatic mutation in the GNAQ gene. This mutation is not inherited but occurs randomly in a cell during early development before birth. The GNAQ gene plays a role in regulating blood vessel formation, and its mutation leads to the abnormal development of blood vessels in the brain, skin, and eyes associated with the syndrome.

Diagnosis

Diagnosis of Dimitri–Sturge–Weber syndrome is primarily based on the clinical presentation, including the distinctive port-wine stain and neurological symptoms. Imaging studies, such as magnetic resonance imaging (MRI), can reveal characteristic brain abnormalities. In some cases, genetic testing may be conducted to identify the GNAQ mutation.

Treatment

There is no cure for DSWS, but treatment focuses on managing symptoms and preventing complications. Early intervention with anticonvulsant medications can help control seizures. Laser therapy may reduce the appearance of the port-wine stain. Eye examinations are crucial for detecting and treating glaucoma early. Physical therapy, occupational therapy, and educational support can help individuals with developmental delays or intellectual disabilities.

Prognosis

The prognosis for individuals with Dimitri–Sturge–Weber syndrome varies widely and depends on the severity of the symptoms. Early and aggressive management of seizures and glaucoma can significantly improve quality of life and outcomes.

Dimitri–Sturge–Weber syndrome Resources
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