Abstracts

Rationale: About 50% of children with 1p36 deletion syndrome will develop epilepsy. Seizure types can vary, and include epileptic encephalopathy with infantile spasms, generalized seizures or complex partial seizures in some. Epilepsy in 1p36 deletion syndrome can have an unpredictable course. Medication refractory epilepsy can worsen overall outcome. Here, we report experience with use of the ketogenic diet in the management of epilepsy in 3 patients with 1p36 deletion syndrome. Methods: Although the ketogenic diet is widely used in multiple epileptic genetic syndromes, there are no reports of experience using the ketogenic diet specifically in those with 1p36 deletion syndrome. Here, through retrospective chart review, we summarize the clinical course and outcomes of 3 patients with confirmed 1p36 deletion syndrome whose refractory seizures were treated with ketogenic diet therapy. Results: The course of epilepsy in 3 patients and the role of ketogenic diet in their management is described: Patient 1 developed epileptic spasms at 10 months old with seizures refractory to five antiepileptic drugs. She became seizure free nine months after the addition of diet therapy, and remaining medications were weaned without loss of seizure control. Patient 2 had refractory tonic seizures and epileptic spasms starting at 2.5 months of age. At diet initiation three antiepileptic medications had failed to control seizures. With the addition of the ketogenic diet, his seizure frequency decreased from 2-3 clusters per day to one every 2-3 weeks, followed by one year of seizure freedom. Diet was withdrawn in the setting of seizure freedom to exclude ketosis/acidosis-related exacerbation of cardiomyopathy. Seizure freedom was maintained but the patient died from cardiac complications 8 months later. Patient 3 developed epileptic spasms and complex partial seizures at 6 weeks of age at a rate of 10-15 clusters per day. Events were refractory to five antiepileptic medications prior to diet initiation. Following diet introduction his seizures improved, to one brief event per day by week five of therapy. After three months events increased significantly resulting in diet wean and the addition of five further antiepileptics. With no improvement, the diet was restarted, however the prior seizure control was not regained. This patient died four months later due to a viral respiratory illness. Conclusions: Patients with 1p36 deletion syndrome often experience refractory epilepsy with polypharmacy without clinical improvement in their seizures. Based on our review, the ketogenic diet can reduce the seizure burden of this syndrome and should be considered as an adjunctive treatment option. Further study will be required to establish whether epilepsy in this syndrome is especially responsive to diet manipulation. Funding: No funding