Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: A novel syndrome

Abstract

Background: The progressive myoclonic epilepsies (PMEs) are a disparate group of syndromes whose common features include disabling myoclonus, progressive cognitive decline, and seizures, typically with a relentless deterioration over time. Objective: To report a novel PME syndrome. Design: Case report. Setting: Epilepsy service in a tertiary care urban medical center. Patient: A 24-year-old man with progressive myoclonus, seizures, and unique features of preserved intellect and demyelinating peripheral neuropathy. Main Outcome Measure: Detailed clinical assessment, electrophysiologic studies, and survey of the literature. Results: We characterize an unusual PME phenotype with unique features of preserved intellect and electrophysiologic evidence of a generalized demyelinating peripheral neuropathic condition. An extensive diagnostic evaluation did not reveal an underlying cause, and a literature survey did not identify other, similar clinical reports. Conclusion: We describe a novel PME syndrome with preserved intellect and demyelinating peripheral neuropathy. ©2009 American Medical Association. All rights reserved.