Abstracts

Epilepsy is the most common medical manifestation of TSC, with a high incidence of infantile spasms and partial epilepsy that often is refractory to medical treatment. We describe the incidence, prevalence, management, and control of seizures in a large population of patients with Tuberous Sclerosis Complex., We conducted a retrospective chart review of patients meeting clinical criteria for TSC who were seen through our TSC clinical program between January 1999 and November 2005., 194 patients met criteria for TSC (mean age 16 years, range 7 months to 60 years), including 91 females. 172 (88.7%) had a history of seizures (mean age 14.8 years, SD 14.8). Twenty-two (11%) patients did not have a history of seizures (mean 24.1years, SD 13.7). The latter group was significantly older (Student[apos]s t test, p[lt]0.005). TSC diagnosis in patients with no seizure history diagnosis may be established later in life, and they might be underrepresented in our sample.
Median age at seizure onset was 6 months (range, newborn to13 years average, mean 1.8 years). Sixty-nine patients (43% of those with seizures) had a history of infantile spasms. Of those who had DNA mutational analysis and seizures (N=122), patients with IS had a higher proportion of TSC2 mutations compared to those without IS (41/56 with IS versus 28/66 without IS, [chi]² p[lt] 0.001)
Seizure control
Detailed information on 158 patients was available for seizure control analysis. At the time of the last visit, 55 (35%) had been seizure free for one year or longer. 33 (21%) of them, including 4 that underwent epilepsy surgery, were on medications, with an average of 3.28 (total, current and past, range 1to 11) antiepileptic drugs (AED). They had been seizure free for an average of 6.65 years, maximum 28 years. Twenty-three were on current mono-therapy. Twenty-two patients (14%), including 4 that had seizure surgery, were off medications and had been on an average number of 2.81 AEDs (range 1 to 6).
Refractory epilepsy
Seventy-three patients who had been treated with 3 or more treatments, including AEDs, vagal nerve stimulator (12), ketogenic diet (10), or low glycemic index treatment (2) without reaching seizure control for one year were classified as refractory. They did not differ in mutational frequencies from 26 non-refractory patients ([chi]² = NS), who did achieve seizure control with one or two AEDs. Fifty-nine patients were excluded from this analysis, since they had not been treated with more than 2 AEDs or other treatments and had not achieved seizure control for one year. Epilepsy surgery was performed in 27 refractory patients; 10 of them eventually became seizure free. Nineteen refractory patients became seizure free after being treated with 3 or more AEDs., TSC comprises a wide epilepsy spectrum, with early onset of seizures, high IS incidence and high intractabilitity rates. Nonetheless 35% achieve complete seizure control.,