Abstracts

Rationale: Sturge-Weber Syndrome (SWS) is a neurocutaneous syndrome that presents with facial port wine stain and leptomeningeal angiomatosis, associated with somatic GNAQ mutations in the affected regions. 75-80% of patients develop intractable epilepsy at early ages, likely associated with brain lesions. Due to the often unihemispheric involvement of the disease, hemispherectomy surgery is typically utilized for seizure control however it can lead to functional deficits such as hemiparesis. In this study we identified children with unilateral SWS without involvement of the frontal lobe, who underwent surgery for treatment of intractable epilepsy with sparing of the frontal lobe, and reported on their clinical features and outcomes. Methods: The study was approved by the institutional review board at Boston Children's Hospital. We retrospectively reviewed medical records of children with SWS and medically intractable epilepsy who had their medical care at Boston Children's Hospital. We identified four children with unilateral SWS on neuroimaging who underwent frontal sparing surgery between 2010-2018. All patients underwent pre-surgical evaluation with video EEG monitoring, also additional studies including PET, and SPECT scans, and neuropsychological testing. Results: The four children (2 boys and 2 girls, ranging 2-13 years of age) had right sided facial port wine stains and correlating brain involvement on neuroimaging. Three children patients had leptomeningeal angiomatosis involving the right temporal, parietal and occipital lobes. One child had involvement of the right temporal and occipital lobes only. Two children achieved developmental milestones appropriate for their age before and after surgery, one child had global developmental delay and one child had cognitive delay. All children had medically refractory epilepsy with 3 children prone to having status epilepticus. On EEG, all children demonstrated seizure onset from corresponding affected area on MRI.All children underwent a combination of resection and disconnection involving the affected areas, but sparing the post central gyrus and whole frontal lobe. The mean age for frontal sparing surgery was 5 years of age. Three children achieved complete seizure freedom, and 1 patient achieved a 70% reduction in seizure frequency, after the surgery. Conclusions: We identified four children with intractable epilepsy associated with SWS, who underwent frontal sparing surgery. A combination of resection and disconnection of the affected areas of leptomeningeal enhancement led to significant improvement in seizure burden, including seizure freedom in 3 out of 4 children. Our experience supports that when the frontal lobe is not involved in the SWS with leptomeningeal angiomatosis, frontal sparing surgery can be performed avoiding deficits of hemiparesis. Further studies will be necessary to assess for reproducibility of the findings and correlation with clinical outcome. Funding: None