Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome

Ray, Debolina; Mandal, Anil K.; Garudadri, Chandra S.; Naik, Milind N.; Dhepe, Niteen

doi:10.1016/j.jaapos.2009.12.003

Cited by 8 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Screening for glaucoma every few months in infancy and early childhood is required to detect glaucoma and initiate treatment. 12 Annual ophthalmologic examinations for life are recommended even if early evaluations do not detect glaucoma or evidence of eye involvement.…”

Section: Diagnosismentioning

confidence: 99%

Current Therapeutic Options in Sturge-Weber Syndrome

Comi

2015

Seminars in Pediatric Neurology

View full text Add to dashboard Cite

Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid “angioma” of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome.

show abstract

Section: Diagnosismentioning

confidence: 99%