Sturge Weber syndrome
Sturge-Weber Syndrome Sturge-Weber Syndrome (SWS) is a rare congenital disorder characterized by a distinctive facial birthmark and neurological abnormalities. It is also known as encephalotrigeminal angiomatosis. This condition is part of a group of disorders known as phakomatoses, which are characterized by the presence of vascular malformations and tumors.
Clinical Features[edit | edit source]
Port-Wine Stain[edit | edit source]
One of the hallmark features of Sturge-Weber Syndrome is the presence of a port-wine stain, a type of capillary malformation that appears as a reddish-purple discoloration of the skin. This birthmark is typically located on the face and follows the distribution of the trigeminal nerve. Port-wine stain
Neurological Manifestations[edit | edit source]
Individuals with SWS often experience neurological symptoms due to leptomeningeal angiomas, which are abnormal blood vessels on the surface of the brain. These can lead to seizures, developmental delays, and intellectual disability. Seizures
Ocular Involvement[edit | edit source]
Glaucoma is a common ocular complication in patients with Sturge-Weber Syndrome. It can lead to increased intraocular pressure and vision loss if not managed properly. Glaucoma
Pathophysiology[edit | edit source]
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, which is why the condition is not inherited in a traditional Mendelian fashion. GNAQ gene
Diagnosis[edit | edit source]
Diagnosis of SWS is primarily clinical, based on the presence of the characteristic port-wine stain and neurological symptoms. Imaging studies such as MRI can be used to identify leptomeningeal angiomas. MRI
Management[edit | edit source]
Management of Sturge-Weber Syndrome is symptomatic and supportive. Anticonvulsant medications are used to control seizures, and laser therapy may be employed to lighten the port-wine stain. Regular ophthalmologic evaluations are necessary to monitor and treat glaucoma. Anticonvulsant
Prognosis[edit | edit source]
The prognosis for individuals with Sturge-Weber Syndrome varies depending on the severity of neurological involvement and the effectiveness of seizure control. Early intervention and comprehensive management can improve quality of life. Prognosis
Research and Future Directions[edit | edit source]
Ongoing research is focused on understanding the genetic and molecular mechanisms underlying Sturge-Weber Syndrome, with the aim of developing targeted therapies. Genetic research
See Also[edit | edit source]
External Links[edit | edit source]
- [Sturge-Weber Foundation](https://www.sturge-weber.org)
NIH genetic and rare disease info[edit source]
Sturge Weber syndrome is a rare disease.
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