Abstracts

Rationale: Myostatic astatic epilepsy (MAE) or Doose syndrome is a generalized epilepsy syndrome associated with massive myoclonic and/or myoclonic-astatic seizures inducing drop attacks. Other seizure types also occur with generalized spike waves and cognitive deterioration. Seizure freedom using medications remains unsatisfactory. We report a chart review of six patients treated with either the Ketogenic Diet (KD) or modified Atkins Diet (MAD). Methods: We retrospectively analyzed six patients who were diagnosed with MAE and experienced significant improvement in seizure control on the KD or MAD. All were males between two and four years when diet(s) was started. SCN1A gene sequencing was performed in two patients and SCLA2A1 gene sequencing was performed in three patients. All returned normal. Multiple EEG studies and MRI scans were performed on each patient. Results: Three patients were started on the KD and three were started on the MAD. Four of the six patients were tried on at least four seizure medications before diet therapy. The remaining two patients were tried on one and two seizure medications respectively. Four of the six patients became seizure free within several weeks of dietary therapy. Seizure freedom has been between two and three years in all four patients. The last two patients went from having multiple daily seizures to having an average of two seizures per month in one case and no seizures in a 38-day period in the other. MRI scans of the brain were normal. EEG demonstrated predominantly generalized spike discharges. Clinically, all patients had drop seizures. Seizure medications were able to be discontinued in four patients. One patient was started on the diet less than a year ago and remains on two antiseizure medications and one patient was kept on monotherapy while on the diet. One patient has fully weaned off the diet and remains without seizures. Another patient was weaned off the diet because of familial preference. By family reporting, all patients have had a significant improvement in development. Conclusions: Results suggest that a subpopulation of MAE patients can be effectively treated with high fat diets. Seizure medications were able to be tapered off in most patients. All six patients obtained significant improvement in seizure frequency, four of which became seizure free. In addition, all families reported cognitive improvement. Half of the patients were started on the KD suggesting that MAD diet initiation may be effective in this population.