Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by a congenital facial birthmark and neurological abnormalities. The facial capillary vascular malformation is also known as “port-wine stain” or “nevus flammeus” and usually is seen in the territory of the trigeminal nerve.
Other symptoms associated with Sturge-Weber can include eye, endocrine and organ irregularities, as well as developmental disabilities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees. There is no specific treatment for Sturge-Weber syndrome. The primary aim is to minimize seizures activity with anticonvulsive medications.
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