Sturge-Weber syndrome

Sturge-Weber syndrome is a rare congenital neurocutaneous disorder marked by distinctive facial capillary malformations and cerebral vascular anomalies. The condition is caused by a somatic mosaic activating variant in the GNAQ gene, a mutation that is not inherited and does not run in families. It typically presents at birth with a characteristic port-wine stain and may later involve neurological and ocular complications. Affected individuals are identified through clinical features, and the condition affects approximately 1 in 20,000 to 50,000 births.

Patients with Sturge-Weber syndrome generally exhibit a prominent port-wine stain in the V1 trigeminal distribution along with leptomeningeal angiomas detected on brain imaging. Neurological features such as seizures, which can be refractory to medication, infantile spasms, neurodevelopmental delays, and stroke have been observed. Ocular involvement may include glaucoma, strabismus, and optic atrophy, while additional features like headache, atypical behavior, and delayed speech can also occur. Not all individuals experience all features, and severity varies considerably.

Sturge-Weber syndrome is caused by a somatic mosaic activating variant in the GNAQ gene. This mutation arises during early embryonic development and affects only a portion of the body's cells, meaning it is not inherited and does not run in families. Because the genetic change is not present in the parents' reproductive cells, the chance of having another affected child is extremely low. Genetic counseling can provide further guidance for families regarding this sporadic event.

Currently, management of Sturge-Weber syndrome focuses on supportive care and symptom control. Foundational therapies include antiepileptic medications for seizure management, low-dose aspirin therapy to reduce stroke-like episodes, pulsed-dye laser treatment for the port-wine stain, and regular ophthalmologic monitoring with appropriate treatment for glaucoma. Additionally, physical and occupational therapies are employed to manage hemiparesis and other motor deficits. A multidisciplinary care approach involving neurologists, ophthalmologists, dermatologists, geneticists, and physical therapists ensures comprehensive management. Regular surveillance remains an essential part of long-term care to identify potential complications early.

The long-term outlook for individuals with Sturge-Weber syndrome is variable, with some patients experiencing significant complications while others achieve relative stabilization after early neurological challenges. With current standards of care, many individuals live into adulthood and benefit from advances in supportive therapies. Outcomes described in medical literature continue to evolve as standards of care improve, and the clinical course may include an initial phase of neurological involvement followed by stabilization. Families often find it helpful to connect with specialists familiar with this condition and genetic counseling for further guidance on long-term management.

Sturge-Weber syndrome remains an active area of research, with several clinical trials currently investigating new treatment approaches such as MEK inhibitor therapies, novel anti-angiogenic strategies, and improved laser treatments for port-wine stains. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.