Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata, and angioma of the eye (leading to glaucoma). The clinical course is highly variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. Although patients with a PWS plus leptomeningeal involvement alone are generally diagnosed as having SWS, those with a facial PWS and glaucoma alone are usually classified separately or considered as having partial SWS. Leptomeningeal and choroidal vascular anomalies have also been described in the absence of a PWS and may represent another partial variant of SWS. A somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both skin and brain). This gene encodes the Q-class G protein alpha-subunit, activation of which increases MAPK signaling. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD23 Syndromes with vascular anomalies as a major feature
H01809 Sturge-Weber syndrome
