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.


METHODS
Case report.


METHODS
Epilepsy service in a tertiary care urban medical center.


METHODS
A 24-year-old man with progressive myoclonus, seizures, and unique features of preserved intellect and demyelinating peripheral neuropathy.


METHODS
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.


CONCLUSIONS
We describe a novel PME syndrome with preserved intellect and demyelinating peripheral neuropathy.
Costello
Daniel J
DJ
Epilepsy Service, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. djcostello@partners.org
Chiappa
Keith H
KH
Siao
Peter
P
D004569:Electroencephalography / Q000379:methods; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D006801:Humans; D007360:Intelligence; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications*; D009431:Neural Conduction / Q000502:physiology; D011129:Polyradiculoneuropathy / Q000150:complications*; D055815:Young Adult