MRCPCH Clinical Video Station - Sturge Weber Syndrome скачать в хорошем качестве

MRCPCH Clinical Video Station - Sturge Weber Syndrome

Sturge-Weber syndrome, also known as Sturge-Weber-Dimitri syndrome or encephalotrigeminal angiomatosis, is a rare congenital disorder that primarily affects the skin, brain, and sometimes the eyes. This syndrome is characterized by a port-wine stain birthmark on the face, typically on one side, and abnormal blood vessel development in the brain and sometimes the eyes. Here are some key features of Sturge-Weber syndrome: 1. Port-Wine Stain: The most visible sign of the syndrome is the presence of a port-wine stain birthmark, which is a dark red or purple discoloration of the skin. This birthmark is usually located on the face and may affect the forehead, eyelids, or the upper part of the face on one side. The port-wine stain is typically present at birth and can become darker and more pronounced over time. 2. Brain Involvement: Sturge-Weber syndrome is associated with abnormal blood vessel development in the brain, which can lead to various neurological problems. These issues can include seizures, developmental delays, intellectual disabilities, and other neurological symptoms. The affected blood vessels in the brain can result in an increased risk of stroke and other complications. 3. Eye Involvement: In some cases, the syndrome can also affect the eyes, leading to glaucoma, which can cause increased pressure within the eye and potential vision problems. The cause of Sturge-Weber syndrome is believed to be a sporadic genetic mutation that occurs during fetal development. It is not typically inherited from parents, but it can sometimes occur in families with a history of the condition. Treatment for Sturge-Weber syndrome aims to manage the associated symptoms and complications. This may involve the use of medications to control seizures, laser therapy or other interventions to treat the port-wine stain, and medical management of other related issues. It's important for individuals with Sturge-Weber syndrome to receive comprehensive care from a team of medical specialists, including neurologists, ophthalmologists, and dermatologists, to address the various aspects of the condition and provide the best possible quality of life. Early intervention and ongoing medical support can help improve the prognosis for individuals with this syndrome.