Sturge-Weber Syndrome

Sturge-Weber Syndrome is a rare condition that affects the skin, brain, and eyes. It is characterized by a distinctive port-wine stain birthmark usually found on the face. This condition involves abnormal blood vessel development in the brain, which can cause seizures, developmental delays, and weakness on one side of the body. The eyes may also be affected, leading to increased pressure and potential vision problems. Overall, it impacts the nervous system and can cause lifelong neurological and physical challenges.

Sturge-Weber Syndrome is a congenital neurocutaneous disorder caused by a somatic activating mutation in the GNAQ gene, leading to abnormal development of capillary-venous malformations. It is characterized by a facial port-wine stain typically involving the ophthalmic branch of the trigeminal nerve, leptomeningeal angiomas causing cortical calcifications and neurological symptoms, and ocular abnormalities such as glaucoma. The syndrome results in chronic neurological complications including seizures, hemiparesis, and intellectual disability. The hallmark pathology is the presence of vascular malformations in the leptomeninges and skin, which disrupt normal brain function and cause progressive neurological decline.