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.
To report a novel PME syndrome.
Epilepsy service in a tertiary care urban medical center.
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.
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.
We describe a novel PME syndrome with preserved intellect and demyelinating peripheral neuropathy.