Abstracts

Rationale: Severe Sturge-Weber Syndrome (SWS) cases may present in early life with intractable seizures; these cases may be associated with developmental disorganization of the cortex, but the frequency and significance of this association remains unclear. In this study we compared the clinical features, neuroimaging and neuropathological findings in such severe cases of SWS who required surgical treatment for intractable epilepsy. Methods: We retrospectively reviewed the clinical features, preoperative magnetic resonance imaging (MRI) studies, and pathological findings of all SWS patients who underwent excisional surgery for intractable epilepsy at Boston Children's Hospital between 1994 and 2011. Results: Eleven patients (male/female = 4/7) with SWS were identified who underwent surgery for intractable epilepsy (mean age 13 +/- 6.2 months), including hemispherectomy (n = 10) and focal cortical resection (n = 1). Mean age at seizure onset was 15 +/- 11 weeks of age. In 50% (n=6) of patients, patients had 2 different types of seizures; 2 patients had 3 different types of seizures. Focal clonic seizures were the most common type and occurred in 9 patients; apnea as second type of seizure occurred in 4 patients. Brain MRIs were reviewed in 6 of 11 patients and had findings consistent with Sturge-Weber syndrome, in all cases. Five cases showed further evidence of accelerated myelination. Areas of poor differentiation of white and gray matter were seen in some patients on MRI, while histopathological examination revealed findings consistent with cortical dysplasia. Conclusions: In our patients, cortical malformations were consistently identified in children with severe SWS who underwent early epilepsy surgery. Clinical presentation in this subgroup is severe, with early onset of catastrophic epilepsy, medically intractable seizures, and associated cognitive and motor deficits. Changes consistent with cortical malformation may be associated with the more severe early onset intractable epilepsy rather than vascular malformation changes, considering that such dysplastic changes may be more epileptogenic; further studies will be necessary to confirm such trend, and also to assess whether such dysplastic changes are developmental, or secondary to vascular and perfusion anomalies in such patients.