Definition of Sturge-Weber-Dimitri Syndrome:

Sturge-Weber-Dimitri Syndrome, also known as encephalotrigeminal angiomatosis, is a rare congenital neurological disorder characterized by the presence of facial birthmarks and abnormalities in the brain, skin, and eyes.

Facial Birthmarks:

Individuals with Sturge-Weber-Dimitri Syndrome typically exhibit a facial birthmark known as a port-wine stain. This birthmark is caused by an overabundance of capillaries beneath the skin, resulting in a red or purple discoloration. It usually affects one side of the face and can vary in size and shape.

Brain Abnormalities:

One of the hallmarks of Sturge-Weber-Dimitri Syndrome is the presence of abnormal blood vessels in the brain. These vessels, known as leptomeningeal angiomas, occur on the same side of the face as the port-wine stain. The abnormal blood flow can lead to neurological symptoms, including seizures, intellectual disability, developmental delays, and hemiparesis (weakness on one side of the body).

Skin and Eye Involvement:

Aside from the facial birthmark, Sturge-Weber-Dimitri Syndrome can also cause skin abnormalities in the form of extra blood vessels on the surface. These blood vessels may be seen as reddish/purple patches on the affected side of the body. Additionally, the condition can affect the eyes, leading to glaucoma, increased pressure within the eye, and visual impairments.

Treatment Options:

While there is no cure for Sturge-Weber-Dimitri Syndrome, management of the symptoms and associated conditions is possible. Treatment options may vary based on the individual’s specific needs but might include medications to control seizures, laser therapy for the removal of birthmarks, physical and occupational therapy to address motor difficulties, and surgical intervention for glaucoma or other severe complications.