新生儿及儿科医学

抽象的

Updates in Medication for Sturge-Weber Syndrome: A Mini Review

Pooja Vedmurthy, Anne M. Comi

Sturge-Weber Syndrome is a rare neurovascular disease associated with glaucoma, a port wine birthmark and most commonly, leptomeningeal vascular malformations accompanied by medically refractory epilepsy. Due to the poorer prognosis associated with extensive brain involvement and early onset of seizures, aggressive and early diagnosis and seizure treatment remains a focus. The past decade has produced a base of literature published on studies and trials for interventions to treat and manage these devastating symptoms. This mini-review focuses on a recent multi-centered study of patient reported medications for SWS and on three other recent treatment trials for SWS: the use of the mTOR pathway inhibitors Sirolimus, a trial with Epidiolex (cannabidiol), and presymptomatic treatment of SWS. An overview of treatment progress for patients with SWS, can be beneficial for clinical providers and patients to determine alternative ways of management.