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A Novel Syndrome

Daniel J. Costello, MD, MRCPI; Keith H. Chiappa, MD; Peter Siao, MD

Arch Neurol. 2009;66(7):898-901.

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.

Author Affiliations: Epilepsy Service (Drs Costello and Chiappa) and Neuromuscular and Electrophysiology Service (Dr Siao), Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.

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