Encephalofacial Hemangiomatosis Syndrome, also known as Sturge-Weber syndrome, is a rare congenital disorder characterized by the presence of facial vascular birthmarks and abnormalities in the central nervous system. This syndrome is named after the physicians Schirmer and Weber, who first described it in 1860.
The main feature of Encephalofacial Hemangiomatosis Syndrome is the presence of a facial port-wine stain birthmark, which typically affects one side of the face. This birthmark is caused by abnormal blood vessel development, resulting in a reddish or purplish discoloration of the skin. In addition to the facial birthmark, individuals with this syndrome may also have similar birthmarks on other parts of the body.
The central nervous system abnormalities associated with Encephalofacial Hemangiomatosis Syndrome include the presence of abnormal blood vessels within the brain and eyes. This can lead to a variety of neurological symptoms, such as seizures, intellectual disability, developmental delays, and visual impairments.
Encephalofacial Hemangiomatosis Syndrome is considered a sporadic condition, meaning that it typically occurs by chance and is not inherited from parents. It is believed to be caused by mutations in the GNAQ gene, which plays a role in blood vessel development.
Management of Encephalofacial Hemangiomatosis Syndrome usually involves a multidisciplinary approach, involving various specialists such as dermatologists, neurologists, ophthalmologists, and psychologists. Treatment options may include medications to control seizures, laser therapy to reduce the appearance of birthmarks, and supportive care to address developmental and educational needs.
In conclusion, Encephalofacial Hemangiomatosis Syndrome is a rare disorder characterized by facial birth
