Updates on Sturge-Weber Syndrome

Abstract

Sturge-Weber syndrome (SWS) is a rare, noninherited neurovascular disorder characterized by abnormal vasculature in the brain, skin, and eye. Patients with SWS characteristically have facial capillary malformation, also known as port-wine birthmark, a leptomeningeal vascular malformation seen on contrast-enhanced magnetic resonance imaging images, abnormal blood vessels in the eye, and glaucoma. Patients with SWS have impaired perfusion to the brain and are at high risk of venous stroke and stroke-like episodes, seizures, and both motor and cognitive difficulties. While the activating R183Q GNAQ somatic mutation is the most common somatic mutation underlying SWS, recent research also implicates that GNA11 and GNB2 somatic mutations are related to SWS. Recent retrospective studies suggest the use of low-dose aspirin and vitamin D in treatment for SWS and prospective drug trials have supported the usefulness of cannabidiol and Sirolimus. Presymptomatic treatment with low-dose aspirin and antiepileptic drugs shows promising results in delaying seizure onset in some patients. This review focuses on the latest progress in the field of research for Sturge-Weber syndrome and highlights directions for future research.

Non-surgical treatment of idiopathic gingival enlargement: A case report

“…Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome characterized by bright red nevus on the face. [13][14][15] It is caused by a somatic mosaic mutation in the GNAQ gene on chromosome 9q21 that affects neural crest cells in the forebrain region, resulting in vascular abnormalities in the prefrontal skin, cerebral cortex, and eyes. [16] Patients with SWS usually have at least two of the following 3 components: Port wine stains on the face, cerebral vascular malformations, and ocular vascular malformations.…”

Sturge-Weber syndrome type III: an important stroke mimic

“…SWS is the third most common neurocutaneous disorder after neurofibromatosis and tuberous sclerosis complex. It is a rare, congenital, non-hereditary, developmental disorder where hamartomatous vascular proliferation occurs in the tissues of brain, face and eyes that leads to complications related to the site and extent of involvement 1. It is often classified into three main types: type I with skin and neurological symptoms with or without glaucoma, type II with only skin and no neurological involvement with possible glaucoma and type III with isolated neurological involvement without skin abnormality and usually no glaucoma 2.…”

Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

“…Prolonged seizure activity decreases adequate venous drainage and can result in a stroke-like episode with transient neurological deficits, such as hemiparesis, visual field deficits, and speech impairment. [30][31][32] These stroke-like episodes have also been associated with minor head injuries, so families must be cautioned regarding the risk of head trauma in sports and other activities. 31,33 The weakness and loss of function on one or both sides of the body associated with stroke-like episodes may take days to months for a full recovery and can cause permanent hemiparesis.…”

“…Prolonged seizure activity decreases adequate venous drainage and can result in a stroke‐like episode with transient neurological deficits, such as hemiparesis, visual field deficits, and speech impairment 30–32 . These stroke‐like episodes have also been associated with minor head injuries, so families must be cautioned regarding the risk of head trauma in sports and other activities 31,33 .…”