Sturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management

Abstract

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by a somatic nonsynonymous mosaic mutation most commonly in the GNAQ gene (G protein guanine Nucleotide-binding protein Alpha subunit q). SWS is characterized by capillary-venous malformations in the brain and eyes and a characteristic facial port wine (PW) birthmark (previously called port wine stain/PWS) in the head/neck region. Clinical manifestations vary and include epilepsy, stroke-like episodes, migraine headaches, cognitive delays, glaucoma, ocular vascular anomalies, heterochromia of the iris, visual field defects, and endocrine disorders like growth hormone deficiency or central hypothyroidism. The pathognomonic findings seen in neuroimaging with magnetic resonance imaging (MRI) include the presence of unilateral intracranial leptomeningeal angiomatosis, typically ipsilateral to the facial birthmark. SWS does not currently have a definitive cure, and management strategies focus on symptomatic management such as anti-seizure medications, limited surgical resection of the epileptogenic tissue or hemispherectomy for cases of drug-resistant epilepsy (DRE), selective photo-thermolysis of the PWS using a pulsed dye laser, and the medical and/or surgical management of glaucoma. In addition to these symptomatic treatments, the use of preventive, modifying, or stabilizing treatments like low-dose aspirin in reducing the frequency and severity of seizures and stroke-like events and the use of newer therapies like cannabidiols and mTOR inhibitors are being reviewed and have shown promising early results. This comprehensive narrative review summarizes the current literature on clinical management strategies, ongoing research studies, and future directions in the diagnosis and management of SWS.

Keywords: Sturge–Weber syndrome; drug-resistant epilepsy; glaucoma; hemispherectomy; port wine birthmark.

Figure 1

(A) Bipolar longitudinal montage of a 16-month-old patient with SWS demonstrating marked asymmetry with slowing attenuation on R. (B) Bipolar longitudinal montage of a 16-month-old with SWS demonstrating marked asymmetry with slowing attenuation on R. (C) Bipolar longitudinal montage of a 16-month-old with SWS in sleep, demonstrating preserved sleep spindles on the left. (D) Average referential montage of a 16-month-old showing seizure onset at P4 (right posterior region).

Figure 2

(A) Axial SWI imaging in a 16-month patient with right-sided SWS demonstrating hypo-intensity in the right frontal region, consistent with parenchymal calcification. (B) T2 axial imaging in a 16-month patient with right-sided SWS volume loss and hypo-intensity in white matter, most prominent in the right front region. (C) Post-contrast T1 axial imaging in a 16-month patient with right-sided SWS demonstrating diffuse right-sided enhancement over gyri, consistent with pial angiomatosis and a choroid plexus papilloma in the posterior horn of the right lateral ventricle (montage type: standard 10–20 montage; longitudinal bipolar or common average and reading sensitivity).

Figure 3

PET scan in a 16m patient with right-sided Sturge–Weber Syndrome in (A) coronal, (B) sagittal, and (C) axial views, demonstrating significant hypometabolism throughout the R hemisphere.

Figure 4

Port wine stain involving the right side of the face seen in a newborn (A). Same patient at 16 months of age (B) following six pulse dye laser treatments.