The aim of this case report is to highlight the potential role of sirolimus in the treatment of Sturge-Weber syndrome (SWS).

We present the case of a 3-year-old girl with SWS, who experienced recurrent epileptic seizures. The patient was treated with multiple antiepileptic drugs such as levetiracetam, carbamazepine, and phenobarbital. Poor control of epileptic seizures led to initiation of sirolimus, an mTOR pathway inhibitor. Remission of epileptic seizures and improvement in psychomotor development were observed.

Encephalotrigeminal angiomatosis, also known as SWS, is a rare, noninherited neurovascular disorder. The disease is characterized by the presence of facial port-wine stains, ipsilateral leptomeningeal angiomatosis, and frequent ipsilateral glaucoma. The most common complications of this disease include epileptic seizures, stroke-like incidents, headaches, and learning and behavioral disorders. Hyperactivation of the mTOR signaling pathway has been implicated in the pathogenesis of SWS. Currently, treatment is based on symptom management. Sirolimus, which is an inhibitor of the mTOR pathway, offers potential new treatment options.