Child Neurology Fellow University of Chicago Chicago, Illinois
Rationale: Genetic Generalized Epilepsy (GGE) is a common epilepsy syndrome contributing to approximately 10% of all epilepsy syndrome diagnoses, with a typical age of onset in childhood and adolescence. Ketogenic diet is a time-tested, potent, and well-tolerated non-pharmacological treatment for epilepsy that has been utilized for almost a century, and has shown to be an effective treatment in various types of seizures and epilepsy syndromes. However, the study of the ketogenic diet therapy, specifically, in patients with GGE is not widely established. This case series presents six patients with a diagnosis of GGE, based on seizure semiology and EEG characteristics, who were started on the Modified Atkins Diet (MAD) with a focus on analyzing the diet’s efficacy and tolerability as a treatment. Methods: A retrospective chart review was performed in patients with epilepsy being treated with the MAD at the Ketogenic Diet Clinic at Comer Children’s Hospital at the University of Chicago. Six patients with a diagnosis of GGE were identified based on clinical history, physical exam, and EEG characteristics. GGE syndromes consisted of three cases of Absence Epilepsy with Eyelid Myoclonia (Jeavons Syndrome), two cases of Childhood Absence Epilepsy (CAE), and one case of Juvenile Absence Epilepsy (JAE).
The MAD was initiated under supervision of a pediatric epileptologist and ketogenic dietitian with a daily carbohydrate allowance of 10-20 grams. Dietary therapy was continued for six months without change to anti-seizure medications. Demographic, clinical, and laboratory information were collected during office visits. Response to the treatment including seizure frequency, duration, severity, and non-laboratory side-effects were monitored by patient and guardian self report. Results: Mean age at seizure onset was 7.2 years and the mean age at diet initiation was 10.3 years. An average of 4.2 antiseizure medications had been tried before starting the diet. Children were receiving a mean of two antiseizure medications at diet initiation. Mean seizure frequency at diet initiation was 16.2 seizures per day for absence and/or eyelid myoclonia and 1.3 seizures per month for generalized tonic-clonic seizures. All six patients achieved ketonemia within 4 weeks of MAD initiation.
At six months of MAD therapy, the mean seizure frequency for absence and/or eyelid myoclonia was 1.0 seizure per day and for generalized tonic-clonic seizures was 0 seizures per month. After undergoing the diet for six months, 3/6 (50%) patients became seizure free, 3/6 (50%) patients experienced greater 75% reduction in seizure frequency, and 3/6 (50%) were able to wean off at least one antiseizure medication. One patient reported side-effects of fatigue that may be attributed to the MAD. No report of constipation and no laboratory evidence of nephrolithiasis, liver transaminitis, dyslipidemia, or excessive weight loss. All six patients completed six months of diet therapy (100%) with one patient choosing to discontinue the diet at the end of the treatment course. Conclusions: The Modified Atkins Diet (MAD) has shown to be an efficacious and well-tolerated treatment for children with drug-resistant Genetic Generalized Epilepsy with a relatively low side-effect profile. MAD offers an additional benefit of aiding in the discontinuity of antiseizure medications and minimizing the side effects from polypharmacy treatment. The Modified Atkins Diet, therefore, should be considered as an alternative treatment option for patients with GGE. A prospective study with a larger cohort of patients should be considered. Funding: Please list any funding that was received in support of this abstract.: No funding was received in support of this abstract. Click here to view image/table
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