SturgeWeber

Sturge-Weber syndrome, also known as Sturge-Weber disease, is a rare, sporadic neurocutaneous disorder characterized by a facial port-wine stain ipsilateral to leptomeningeal angiomatosis affecting the cerebral cortex. The condition results from a somatic activating mutation in the GNAQ gene during early development; because the mutation is mosaic, it is not inherited and is typically not detectable in blood.

Leptomeningeal angiomatosis leads to chronic brain ischemia and venous congestion, causing progressive neurological abnormalities. Imaging often reveals tram-track calcifications in the cortex and pial enhancement on MRI, corresponding to the areas overlying the angiomas. Ocular involvement, particularly glaucoma, is common on the same side as the facial and leptomeningeal lesions.

Clinical features typically appear in infancy or early childhood. A port-wine stain in the distribution of the trigeminal nerve (often V1/V2) is usually present at birth. Neurological symptoms include seizures, developmental delay or intellectual disability, hemiparesis, and headaches. Ophthalmologic complications such as glaucoma and uveitis may occur, contributing to vision loss.

Diagnosis is based on clinical findings supported by imaging and, when possible, molecular testing of affected tissue for GNAQ mutations. Management is multidisciplinary and symptomatic. Treatments focus on seizure control with antiepileptics, management of glaucoma, and supportive therapies for neurodevelopmental needs. Cosmetic laser therapy may improve the port-wine stain. The prognosis varies with the extent of brain involvement and severity of seizures; some individuals have mild symptoms, while others experience progressive neurological impairment.