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

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.