Sturge-Kalischer-Weber syndrome is a rare congenital disorder characterized by a triad of features, including a port-wine stain birthmark (also known as a nevus flammeus or capillary malformation), neurological abnormalities, and eye involvement.
The port-wine stain, which is typically present at birth, is a flat, red or purple discoloration of the skin that commonly affects the face but can also extend to other parts of the body. Neurological abnormalities associated with this syndrome can vary, with some individuals experiencing seizures, intellectual disability, developmental delays, or weakness on one side of the body. These neurological symptoms are a result of abnormal blood vessels in the brain.
Eye involvement is another hallmark of Sturge-Kalischer-Weber syndrome and often includes glaucoma, a condition characterized by increased pressure within the eye. Glaucoma can lead to vision impairment or loss if left untreated.
The cause of Sturge-Kalischer-Weber syndrome is believed to be a sporadic genetic mutation, rather than an inherited condition. It is associated with a mutation in the GNAQ gene, which plays a role in regulating blood vessel formation and growth.
Treatment for Sturge-Kalischer-Weber syndrome is focused on managing and minimizing related symptoms. This may include medications to control seizures, physical therapy to improve motor function, and interventions to address eye-related complications, such as eye drops or surgeries to reduce intraocular pressure.
The prognosis for individuals with this syndrome varies depending on the severity of symptoms, with some individuals experiencing mild effects while others may face more significant challenges in daily life. It is important for individuals with Sturge-Kalischer-Weber syndrome to receive comprehensive medical care and support to optimize their overall well-being and quality of
