Abstracts

Tuberous sclerosis complex (TSC) is an autossomal dominant multisystemic disease. Seizure and mental retardation are prominent neurologic features. Epilepsy usually presents in the first year as epileptic spasms. Seizures are often refractory to medical treatment. Correlation between mental retardation and seizures are less clear. We studied factors associated with medical intractability of seizures and mental retardation in a case series of TSC patients. Retrospective chart review of clinical, EEG and neuroimaging data of 33 cases with the diagnosis of TSC. Data analyzed included occurrence of epilepsy, age at epilepsy onset, seizure types and response to antiepileptic drugs. Cognitive performance was evaluated by interview and neurological exam. Epilepsy occurred in 90,9% of the patients. In 19/33 (63,3%) patients, epilepsy started before 1 year of age (group 1) and after 1 year of age in 11/33 (33,3%) (group 2); 3 patients did not present epilepsy. In group 1, epileptic spasms occurred in 47,4% of cases and focal seizures in 63,1%. In group 2, all patients presented focal seizures. Medically refractory epilepsy was observed more commonly in group 1 (63,1%) than group 2 (18,2%) (p=0,12), in patients with more than one type of seizure than in patients with a single seizure type (71,4% vs 25%, p=0,12) and in patients with epileptic abnormalities than in patients without epileptiform abnormalities on EEG (52,4% vs. 22,2% p=NS). Mental retardation was seen more frequently in patients with medically refractory epilepsy than in patients without cognitive impairment (92,8% vs. 25% p=0,04) and in patients with epileptiform discharges on EEG. (77,3 % vs. 36,3% p=NS) In this series, epilepsy started more frequently during the first year of age. Mental retardation was associated with refractory epilepsy. Association between medical refractoriness and epilepsy onset before age one or occurrence of more than one seizure type should be evaluated in larger series.