Sturge Weber Dimitri Syndrome, also known as Sturge-Weber Syndrome or encephalotrigeminal angiomatosis, is a rare congenital disorder that affects the development of certain blood vessels and tissues in the body. It is characterized by a distinctive "port-wine stain" birthmark on the forehead and upper eyelids, along with abnormal blood vessels in the brain and eye.
This syndrome is caused by a somatic mutation in the GNAQ gene, which leads to the formation of vascular malformations in various parts of the body. The port-wine stain birthmark, also known as a nevus flammeus, is typically present at birth and usually affects one side of the face. As the child grows, the birthmark may darken and become thicker.
Aside from the visible birthmark, individuals with Sturge Weber Dimitri Syndrome may also experience seizures, intellectual disabilities, developmental delays, and glaucoma. The extent and severity of symptoms can vary greatly among affected individuals.
Diagnosis of this syndrome usually involves a physical examination to identify characteristic features, along with imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans to evaluate the brain and associated blood vessels.
There is currently no cure for Sturge Weber Dimitri Syndrome, and treatment primarily focuses on managing the associated symptoms. This may involve the use of anticonvulsant medications to control seizures, medications or surgery for glaucoma management, and other supportive therapies to address developmental and intellectual challenges. A multidisciplinary approach involving various healthcare specialists, such as neurologists, dermatologists, and ophthalmologists, is typically required to provide comprehensive care for individuals with this condition.
