Sturge-weber syndrome

Sturge-Weber syndrome Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare congenital neurocutaneous disorder characterized by the presence of a facial port-wine stain (nevus flammeus), neurological abnormalities, and ocular manifestations. It is part of a group of disorders known as phakomatoses.

Clinical Features

The hallmark of Sturge-Weber syndrome is the facial port-wine stain, which typically affects the skin around the trigeminal nerve distribution. This vascular malformation is present at birth and can vary in size and color intensity. Neurological symptoms are due to leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These can lead to seizures, which often begin in infancy, as well as developmental delays, cognitive impairments, and hemiparesis (weakness on one side of the body). Ocular involvement in SWS can include glaucoma, which may be present at birth or develop later. Other eye abnormalities can include choroidal hemangiomas and buphthalmos (enlarged eyeball).

Pathophysiology

Sturge-Weber syndrome is caused by a somatic mutation in the GNAQ gene, which leads to abnormal blood vessel development. This mutation occurs after fertilization, meaning it is not inherited but rather occurs sporadically.

Diagnosis

Diagnosis of Sturge-Weber syndrome is primarily clinical, based on the presence of the characteristic port-wine stain and neurological symptoms. Imaging studies such as MRI and CT scan can reveal the extent of leptomeningeal angiomas. Electroencephalography (EEG) may be used to assess seizure activity.

Treatment

There is no cure for Sturge-Weber syndrome, and treatment is symptomatic. Management of seizures often involves antiepileptic drugs. Laser therapy can be used to lighten the port-wine stain. Glaucoma is managed with medications or surgery to reduce intraocular pressure. Early intervention and supportive therapies, such as physical and occupational therapy, are important for developmental support.

Prognosis

The prognosis for individuals with Sturge-Weber syndrome varies widely depending on the severity of symptoms. Early diagnosis and intervention can improve quality of life and functional outcomes.

Related Pages

• Neurocutaneous syndrome
• Port-wine stain
• Phakomatoses
• Trigeminal nerve
• Seizure
• Glaucoma
• GNAQ gene