Sturge-Weber syndrome
A neurocutaneous syndrome characterized by port-wine stains, glaucoma, and leptomeningeal angiomatosis causing seizures and developmental delays.
Full Definition
Sturge-Weber syndrome is a rare congenital neurocutaneous disorder caused by somatic mutations in the GNAQ gene, resulting in abnormal blood vessel development. The syndrome is characterized by port-wine birthmarks (typically in the trigeminal nerve distribution), leptomeningeal angiomatosis (abnormal blood vessels in the brain covering), and often glaucoma. Neurological manifestations include seizures, stroke-like episodes, developmental delays, and progressive neurological decline. The severity of symptoms varies widely, with some patients experiencing only mild symptoms while others develop significant disabilities. Early recognition and treatment of seizures and glaucoma are crucial for optimizing outcomes.
Usage
Usage note: Always capitalize and hyphenate the eponymous name.
In Context
- "The patient's facial port-wine stain and early-onset seizures raised suspicion for Sturge-Weber syndrome." — Dermatology referral note
- "MRI with contrast revealed leptomeningeal enhancement consistent with Sturge-Weber syndrome." — Neuroradiology report