Sirolimus treatment in Sturge-Weber syndrome
AJ Sebold, AM Day, J Ewen, J Adamek, A Byars… - Pediatric …, 2021 - Elsevier
Abstract 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 …
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 …
