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Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome
Daniel J Costello1, Keith H Chiappa, Peter Siao
1Epilepsy Service, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. djcostello@partners.org
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.
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