Archives of neurology · 2009
Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Costello Daniel J, Chiappa Keith H, Siao Peter
Аннотация
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.
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.