Dimitri–Sturge–Weber syndrome
Dimitri–Sturge–Weber syndrome (DSWS), also known as Sturge-Weber syndrome or encephalotrigeminal angiomatosis, is a rare congenital neurological disorder 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 somatic 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[edit | edit source]
The most visible sign of Dimitri–Sturge–Weber syndrome is a facial port-wine stain, typically affecting one side of the face. The extent and location of the stain can vary. Additional symptoms include:
- Neurological symptoms:
- Seizures, often beginning in infancy, with varying severity.
- Intellectual disability and developmental delays.
- Hemiparesis (weakness on one side of the body).
- Eye abnormalities:
- Glaucoma, potentially leading to vision loss if untreated.
Causes[edit | edit source]
DSWS is caused by a somatic mutation in the GNAQ gene, which is not inherited but occurs randomly in a cell during early development. The GNAQ gene regulates 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[edit | edit source]
Diagnosis is based on clinical presentation, including:
- A distinctive port-wine stain.
- Neurological symptoms, such as seizures.
- Imaging studies:
- Magnetic resonance imaging (MRI) to detect characteristic brain abnormalities.
- Genetic testing may be performed to confirm the presence of the GNAQ mutation.
Treatment[edit | edit source]
There is no cure for Dimitri–Sturge–Weber syndrome. Treatment focuses on managing symptoms and preventing complications, including:
- Anticonvulsant medications: To control seizures.
- Laser therapy: To reduce the appearance of the port-wine stain.
- Regular eye examinations: To detect and treat glaucoma early.
- Supportive therapies:
- Physical therapy and occupational therapy to address developmental delays.
- Educational support for intellectual disabilities.
Prognosis[edit | edit source]
The prognosis for individuals with DSWS varies widely depending on the severity of symptoms. Early and proactive management of seizures and glaucoma can significantly improve quality of life and outcomes.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Dimitri–Sturge–Weber syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
