Alison J Sebold, Alyssa M Day, Joshua Ewen, Jack Adamek, Anna Byars, Bernard Cohen, Eric H Kossoff, Tomoyuki Mizuno, Matthew Ryan, Jacqueline Sievers, Lindsay Smegal, Stacy J Suskauer, Cameron Thomas, Alexander Vinks, T Andrew Zabel, Adrienne M Hammill, Anne M Comi
BACKGROUND: Sturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome. METHODS: Ten patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled...
February 2021: Pediatric Neurology