Abstracts

Rationale: Epileptic spasms is an age dependent type of epilepsy syndrome with significant impact on neurodevelopment. Treatment of epileptic spasms in patients with Down syndrome is challenging due to associated medical problems. So far there is no strong evidence to favor any specific antiepileptic medication in this subset of patients. Some are concerned about using ACTH (Adrenocorticotropic hormone) and corticosteroids in these patients because the potential risks may outweigh the benefits. We report 4 patients with Down syndrome and epileptic spasms treated with ACTH and corticosteroids. Methods: We reviewed charts of four patients with Down syndrome and epileptic spasms seen at SUNY Downstate Medical Center and Kings County Hospital. Data regarding patient characteristics, seizure onset, seizure type, EEG findings, epilepsy syndrome, hospital course, antiepileptic medications used and their side effects were collected and analyzed. Results: Four patients, 3 females and 1 male, with Down syndrome (Trisomy 21) and epileptic spasms were identified. Age of onset of spasms was between 6 and 16 months (Mean 10.5 months). Clinical spasms were confirmed by video EEG in all patients. EEG showed modified hypsarrhythmia in three patients and hypsarrhythmia in one patient. Alternative treatment with topiramate or valproic acid was tried prior to starting steroids in 2 patients with no significant benefit. Three patients received high dose (100 to 150 IU/m2/day) of ACTH for 1 to 2 weeks followed by tapering doses for total 6 to 10 weeks and one patient received oral prednisone (2mg/kg/day) for 2 weeks followed by tapering doses for next 4 weeks. Two patients who received ACTH had normalization of EEG with complete disappearance of clinical spasms confirmed by Video EEG within 1 to 2 weeks of treatment and remained seizure free 1 year after the treatment. One patient who received ACTH, showed improvement in EEG and transient disappearance of spasms but they recurred after 4 weeks with additional tonic seizures accompanied by generalized paroxysmal fast activity on EEG. The patient who received prednisone did not show any improvement. All patients developed irritability and cushingoid features, which resolved after stopping the therapy. One patient who received ACTH had severe infection requiring ICU admission within a week after the completion of treatment. Conclusions: In our case series, ACTH appears to be effective in the treatment of epileptic spasms in a considerable proportion of patients with Down syndrome. But therapy with ACTH needs extra vigilance in these patients as they may be more prone for infections. Larger prospective studies are needed to determine the efficacy and side effects of ACTH for this specific group of patients.