Abstracts

Rationale: Sturge-Weber Syndrome (SWS) is a rare neurocutaneous syndrome typically presenting with facial port wine stain and leptomeningeal angiomatosis, reported to be associated with somatic GNAQ mutations in the affected regions. Most patients experience refractory epilepsy at early ages. In this study we investigated children with SWS and intractable epilepsy, and found cases with apparent prolonged postictal deficits that took much time to recover. Methods: The study was approved by the institutional review board at Boston Children's Hospital. We retrospectively reviewed medical records, EEG findings and neuroimaging of children with SWS and medically intractable epilepsy (n=12, 6 boys and 6 girls. Mean age 7.95.9 years old) who had their medical care at Boston Children's Hospital in 2015, and identified four children with episodes of prolonged postictal deficits. For this study we defined "prolonged postictal deficits" as events of deficits after seizures or suspicious seizures, lasting more than one day until recovering back to baseline. Results: Four of twelve children (3 boys and 1 girl, mean age 11.38.0 years old) have had one or more episode of "prolonged postictal deficits". The clinical features of the four children are summarized in table 1. All of them had facial port wine stains and brain involvement, presenting with complex partial seizures and developmental delay. All four cases had extensive brain involvement, not only in the posterior brain regions but also extending into the temporal lobes. Two had bilateral hemisphere involvement. They all tend to have repeated admissions compared to other children with SWS, three of which had frequent seizures seen at least weekly, and had a history of status epilepticus. Regarding the episodes of prolonged postictal deficits, two children experienced hemiparesis after seizures lasting one to two days. One child had episodes of speech and short term memory deficits for two months after convulsive seizures. One child had postictal difficulties with depth perception, visual and auditory processing and understanding language, lasting up to 3 years. She also had episodes of hemiparesis. In all cases the deficits appeared to have fully recovered to the previous functional levels, even with such prolonged recovery periods. There were no obvious acute ischemic lesions detected on MR imaging in all four cases. Conclusions: One third of our children with intractable epilepsy associated with SWS experienced episodes of "prolonged postictal deficits", which would last from one day to a few years, until recovering back to baseline. Further studies with be necessary to assess the pathophysiology and clinical significance of such "prolonged postictal deficits" in SWS, which may potentially involve recurrent microvascular thrombosis and resulting venous stasis. Identification of factors that increase the risk for such prolonged postictal deficits may be important in improving management of children with SWS and intractable epilepsy. Funding: no