Abstracts

Rationale: Juvenile spasms (JS) - epileptic spasms occurring after the age of two-years-old - are not uncommon in patients with tuberous sclerosis complex (TSC). We sought to examine the efficacy of various treatments, particularly treatment response to vigabatrin (VGB), which is extremely effective for infantile spasms (IS) in TSC. Methods: The authors retrospectively reviewed the medical records of 19 patients with TSC and JS for clinical and treatment data. Results: Of 391 patients with TSC, 19 (4.8%) had JS. Of those with detailed clinical data, six had infantile spasms that persisted after age two-years-old, six returned later (range 2 to 24-years-old) after an initial remission of infantile spasms, and four occurred de novo over the age of two-years-old (range 2 to 20-years-old). All concurrently had other seizure types. Six patients became spasm-free with medication treatment, including four with VGB, one with VGB in combination with the low glycemic index treatment (LGIT), and one with felbamate. Five became spasm-free after epilepsy surgery. VGB was not effective for seven patients. Additional medications that were partially effective included clobazam (2 patients), clonazepam (1), lamotrigine (1), levetiracetam (1), oxcarbazepine (1), phenytoin (1), and rufinamide (2). Medications that had no effect included levetiracetam (1 patient), rufinamide (1), and zonisamide (2). The ketogenic diet provided partial effectiveness for one patient, and the LGIT was ineffective or not tolerated by three. The majority of patients continued to have refractory epilepsy. Conclusions: JS in TSC are difficult to treat, and often occur in the setting of refractory epilepsy. VGB can be effective, but the success of VGB for JS in TSC is not equivalent to that of IS in TSC. Previous successful treatment with VGB for IS did not predict successful treatment with VGB upon recurrence with JS. In our series, felbamate and dietary therapy were also effective for individual patients, with other anti-convulsant medications providing only partial effectiveness or having no effect. Medication-refractory patients should be considered for surgical candidacy.