Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children's Hospital experience.

OBJECTIVE

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in the GNAQ gene. Epilepsy is seen in 75%-80% of children with SWS, and they are at high risk of early onset seizures, status epilepticus, and drug-resistant epilepsy. Epilepsy surgery is an effective treatment, but timing and candidacy for epilepsy surgery remain controversial in this patient population. We examined the indications, trends, and outcomes of surgically treated patients with SWS at a large-volume tertiary pediatric hospital over >2 decades.

METHODS

This retrospective cohort study includes all patients who have a clinical diagnosis of SWS, underwent epilepsy surgery, and were followed by a neurologist at Boston Children's Hospital with clinic visit(s) between January 2000 and April 2022. Chart review and descriptive statistics were performed, and epilepsy characteristics and magnetic resonance imaging findings of the surgical cohort were compared with a nonsurgical SWS cohort.

RESULTS

Seventeen patients met the inclusion criteria, 12 with unilateral brain involvement (six right hemispheric) and five with bilateral asymmetric involvement. The average age at seizure onset was 7 months, and average age at first surgery was 29 months. Indication for epilepsy surgery was medically refractory epilepsy in all patients. Eleven hemispherectomies (seven anatomical, four functional) and six motor-sparing focal resections/disconnections were performed. After an average follow-up time of 7 years, Engel class I or II seizure outcome was achieved in 15 patients, including all five with bilateral asymmetric involvement. Five patients have discontinued antiseizure medications.

SIGNIFICANCE: Outcomes after epilepsy surgery in children with SWS are robust and durable, with a low rate of complications. Both functional hemispherectomy and focal resections are effective in carefully selected patients, and patients with bilateral asymmetric involvement may have favorable outcomes.