Sirolimus as a Potential Treatment for Sturge-Weber Syndrome

Abstract

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterized by port-wine stain, leptomeningeal angiomatosis, and glaucoma. Due to the involvement of the nervous system, patients are often accompanied with epilepsy. It reported that 75% of patients with SWS did not respond to standard antiepileptic drugs. Although hemispherectomy is effective in treating these patients, the application of it has been limited due to high risk and huge trauma. Recent studies have shown that sirolimus has a positive on complex vascular malformations and seizures, so the authors attempted to treat them by using sirolimus. METHODS: The authors retrospectively analyzed 6 patients with SWS who were refractory to antiepileptic drugs and accepted oral sirolimus in their department between 2017 and 2020. RESULTS: All 6 patients were responsive to oral sirolimus treatment. Epilepsy was controlled in all patients, no epilepsy relapsed in 6 patients during the follow-up period. The facial port-wine stain of the patients were all lightened and the hypertrophy of pathological tissue was improved. Only minor adverse reactions occurred during the treatment. CONCLUSIONS: Oral sirolimus could control the occurrence of epilepsy and improve the appearance, with minor and tolerable adverse reactions. Sirolimus is especially suitable for patients with severe epilepsy, failure, or contraindications of antiepileptic drugs; it could be an alternative method for patients who are unwilling to accept the risks of neurosurgery.