Abstracts

Rationale: Sturge-Weber Syndrome (SWS) is a neurocutaneous disorder affecting the skin, brain and eyes. Its etiopathogenesis involves a somatic mosaic mutation in the GNAQ gene. Its classic triad consists of a port-wine stain in the trigeminal nerve distribution, leptomeningeal angiomatosis and glaucoma. Neurological manifestations include epileptic seizures, cognitive delay, hemiparesis and headaches. Epilepsy onset is prior to 1 year of age in 75% and seizures are medically refractory in 50%. Epilepsy surgery has been established as an effective treatment in patients with SWS. However, the timing and candidacy for epilepsy surgery remain controversial. There are few large-scale studies examining the indications, procedures and outcomes in children with SWS who undergo epilepsy surgery.

Methods: This retrospective cohort study includes all patients who meet the following criteria: (1) followed by an epileptologist at Boston Children’s Hospital, (2) clinical diagnosis of SWS, (3) underwent epilepsy surgery at BCH, (4) clinic visit between 01/2000 and 04/2022. Chart review of patient demographics, seizure history, EEG/imaging results, epilepsy surgery details and pathology findings was performed. Descriptive statistics and univariable logistic regression analysis were used.

Results: A total of 17 patients met the inclusion criteria, 14 with unilateral involvement and 3 with bilateral asymmetric involvement. Average seizure onset age was 7 m. Indication for epilepsy surgery was medically refractory epilepsy in all patients, including status epilepticus (n=12), seizure clusters (n=14), apnea/cyanosis (n=7) or secondarily generalized seizures (n=3). Most had pre-existing delays and 3 had regression. Eleven had hemispherectomies (7 anatomical, 4 functional), 6 had motor-sparing focal resection/disconnection. 3 required repeat surgery for incomplete disconnection. Average age at first surgery was 3 y; time between seizure onset and surgery ranged from 5 m to 10 y. Complications were reported after 4 operations (hemorrhage requiring evacuation, transient diabetes insipidus, incidental PICA infarction, delayed hydrocephalus). Pathology confirmed SWS in all specimens and cortical malformation in 7. Average follow-up time was 7 y with only 1 patient lost to follow-up. Engel class Ia seizure outcome was achieved in 11. 4 had class Ib outcome (3 hemispherectomies, 1 focal resection), one had class IIIa outcome (focal resection). Almost all had developmental stabilization or improvement. Of patients with dual pathology, 5/7 achieved class Ia outcome. Of patients with bilateral involvement, one had class Ia outcome and 2 had class Ib.

Conclusions: This retrospective cohort study examines trends and outcomes in surgical treatment of SWS patients at a large pediatric tertiary hospital over 22 years. There has been a shift towards less invasive surgeries; outcomes can be favorable with functional hemispherectomy and focal resections in carefully selected patients. Those with bilateral asymmetric involvement or dual pathology may also have favorable outcomes.

Funding: None